bluuebunny/crossref_metadata_2025_split huggingface dataset:
Association between antibiotic use and the risk of rheumatoid arthritis: a retrospective cohort study in South Korea
Authors: Park Sun Jae , Kim Minkyung , Jeong Jihui , Park Young Jun , Jeong Seogsong , Kim Minseo , Kim Hye Jun , Song Jihun , Kim Sung Min , Chang Jooyoung , Kim Kyae Hyung , Ko Ahryoung , Park Sang Min 
Published: September 2024

Abstract

Objectives
Certain studies propose that antibiotic use may influence RA incidence, but the clear association between antibiotics and RA remains unclear. Therefore, this study aimed to examine the relationship between antibiotics and RA risk to provide additional epidemiological evidence.

Methods
This population-based retrospective cohort study was conducted with adults aged 40 years or older using the Korean National Health Insurance Service database. Antibiotic exposure was measured from 2003 to 2007. Study participants were followed up from 1 January 2008 to 31 December 2019. Multivariable Cox hazard regression was utilized to evaluate adjusted hazard ratios (aHRs) and 95% confidence intervals (CIs) for the risk of RA according to accumulative days of antibiotic use and the number of antibiotic classes used, respectively.

Results
During 3 395 590 person-years of follow-up, 29 274 cases of RA were identified. Participants who used antibiotics for 91 or more days had a higher risk of RA (aHR, 1.79; 95% CI, 1.67–1.92) than antibiotic non-users. Additionally, individuals who used four or more kinds of antibiotic classes had a higher risk of RA (aHR, 1.61; 95% CI, 1.51–1.71) than those who did not prescribe antibiotics. The risk of RA was positively associated with both higher cumulative days of antibiotic exposure and a larger number of drug classes. These trends were maintained in sensitivity analyses, including variations in antibiotic exposure periods.

Conclusion
Our findings suggest a possible association between the long-term use of antibiotics and RA incidence. Further studies are necessary for a clearer understanding of this association.
Anti-pentraxin 3 antibodies and residual disease activity in rheumatoid arthritis
Authors: Salvato Mariangela , Frizzera Francesca , Ghirardello Anna , Calligaro Antonia , Botsios Costantino , Zen Margherita , Doria Andrea , Giollo Alessandro 
Published: September 2024

Abstract

Objectives
This study quantified anti-PTX3 antibodies in the serum of seropositive and seronegative RA patients, examining their associations with disease activity and patient-reported outcome measures (PROMs).

Methods
In this cross-sectional study, RA patients diagnosed per ACR/EULAR 2010 criteria were recruited. Seronegative RA was defined as ACPA &lt;7 kU/L. Data on demographics, clinical characteristics, medications, and PROMs were collected. Serum anti-PTX3 antibodies were measured using an in-house ELISA method. Comparative analyses were conducted with historical controls having PsA and FM.

Results
The cohort included 83 RA patients (42 seropositive, 41 seronegative). Seropositive patients had lower anti-PTX3 antibody levels than PsA (P = 0.001) and FM (P = 0.004) controls. Seronegative patients had higher levels than seropositive ones (P = 0.032). Anti-PTX3 antibodies correlated with CDAI (r = 0.255), PtGA (r = 0.257), VAS-GH (r = −0.235), VAS-pain (r = 0.233), and HAQ (r = 0.311), but not with joint counts, inflammatory markers, or physician’s global assessment. The PtGA association remained significant when adjusted for BMI, SJC28, ESR, and prednisone dosage (β = 0.206, P = 0.042). Patients with near-controlled RA (SJC28 ≤ 2, PtGA &gt; 2) had higher anti-PTX3 levels than those with controlled disease (SJC28 ≤ 2, PtGA ≤ 2; P = 0.048). Tocilizumab or abatacept-treated patients had lower levels compared with those on TNFi or JAKi.

Conclusion
Elevated anti-PTX3 antibodies in RA indicate residual active disease despite controlled inflammation. They may serve as a biomarker for true active disease, especially in seronegative RA patients who might be undertreated.
Low remission rates and high incidence of adverse events in a prospective VEXAS syndrome registry
Authors: Kirino Yohei , Maeda Ayaka , Asano Tomoyuki , Migita Kiyoshi , Hidaka Yukiko , Ida Hiroaki , Kobayashi Daisuke , Oda Nobuhiro , Rokutanda Ryo , Fujieda Yuichiro , Atsumi Tatsuya , Kishida Dai , Kobayashi Hiroshi , Shiratsuchi Motoaki , Shimizu Toshimasa , Kawakami Atsushi , Tanaka Kazuki , Tsuji Tomohiro , Mishima Koji , Miyamae Takako , Hasegawa Anna , Ikeda Kei , Watanabe Tomoya , Yamaguchi Yukie , Nishikomori Ryuta , Ohara Osamu , Nakajima Hideaki ,   Japan VEXAS Study Group, Inaba Yutaka , Tsujimoto Kohei , Nagahata Ken , Miyoshi Yuji , Takeuchi Yoichi , Takatsuki Kensaku 
Published: September 2024

Abstract

Objective
We aimed to gather real-world clinical evidence of detailed disease activity, treatments, remission rates and adverse events (AEs) associated with vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome in a prospective study.

Methods
Patients in Japan suspected of having VEXAS syndrome were enrolled in a registry study. A novel disease activity measure VEXASCAF assessing 11 symptoms associated with VEXAS syndrome was evaluated at enrolment and after 3 months. AEs, survival, CRP levels and treatments were also recorded at enrolment and 3 months after enrolment. All exons of ubiquitin-like modifier activating enzyme 1 (UBA1) were sequenced using a next-generation sequencer to determine the variant allele frequencies of pathogenic variants in the peripheral blood of all patients.

Results
Of the 55 registered patients, 30 patients were confirmed to have pathogenic variants of UBA1. All patients were male, with a median age of 73.5 years. VEXASCAF and CRP levels decreased significantly at 3 months post-enrolment, but the oral prednisolone dose did not change. Only two patients achieved complete remission according to FRENVEX at 3 months after enrolment. During the observation period of 6 months, 28 AEs were observed, including three deaths, four malignancies from two cases, two thromboses and 13 infections (including four mycobacterial infections). Inflammation of the lung and cervical region (i.e. parotid and submandibular gland swelling, tonsillitis, cervical swelling and pain) were the most common AEs.

Conclusions
Patients with VEXAS syndrome required high-dose glucocorticoids to reduce disease activity, and complications—such as malignancy, thrombosis, and infection—occurred frequently within a short observation period.
Assessment of occupational radiation exposure during a specific endoscopic retrograde cholangiopancreatography procedure
Authors: Abdi Ahmed Jibril , Pedersen Malene Roland Vils , Precht Helle , Brage Karen , Lund Hansen Pernille 
Published: September 2024

Abstract

Aim
The aim of this study was to evaluate the occupational radiation exposure of staff during endoscopic retrograde cholangiopancreatography (ERCP), with a focus on individuals closest to the radiation source, and to identify potential increases in exposure to hands and eye lenses. Patient radiation exposure during ERCP was also assessed.

Materials and methods
Staff organ doses were monitored using a Philips Allura Xper FD 20 fluoroscopy system, during 24 ERCP procedures for a period of 7 months. Staff doses were measured using thermoluminescence dosemeters and electronic personal dosemeters, and patient effective doses were simulated and calculated.

Results
Physicians’ annual organ doses ranged from 0.2 to 1.6 mSv for shoulders, 0.1 to 0.4 mSv for eye lenses, and 0.3 to 1.6 mSv for fingers. The annual organ dose of the nursing staff ranged from 0.08 to 2.4 mSv for shoulders, 0.02 to 2.3 mSv for eye lenses, and 1.2 to 5.3 mSv for fingers. The effective dose to patients ranged from 0.009 to 0.46 mSv.

Conclusion
Staff doses were within safe limits, but patient doses were high, emphasizing the need for improved radiation protection.
Efficacy of User Self-Led and Human-Supported Digital Health Interventions for People With Schizophrenia: A Systematic Review and Meta-Analysis
Authors: Arnautovska Urska , Trott Mike , Vitangcol Kathryn Jemimah , Milton Alyssa , Brown Ellie , Warren Nicola , Leucht Stefan , Firth Joseph , Siskind Dan 
Published: September 2024

Abstract

Background
Digital health interventions (DHIs) may enable low cost, scalable improvements in the quality of care for adults with schizophrenia. Given the fast-growing number of studies using these tools, this review aimed to assess the efficacy and feasibility of randomized controlled trials (RCTs) of DHIs among people with schizophrenia, focusing on human support.

Design
A systematic search of PubMed, Embase, PsycINFO, CINAHL, Web of Science, and Cochrane databases was conducted in January 2024 to identify relevant RCTs. Random effects meta-analyses were undertaken to evaluate the effects on psychosis symptoms, cognition, and other health-related outcomes.

Results
Twenty-six RCTs (n = 2481 participants) were included. Pooled recruitment and retention rates were 57.4% and 87.6%, respectively. DHIs showed no statistically significant effect sizes across all examined outcomes, including psychosis symptoms, depression, quality of life, global and social cognition, global and social functioning, and medication adherence. A third (34.6%) of DHIs were developed using co-design while the majority (70%) personalized the intervention to its users and 69.2% were deemed to be at high risk of bias. There were trends toward effects in favor of DHIs with human support for social cognition and quality of life.

Conclusions
DHIs are feasible for people with schizophrenia and potentially useful for improving health outcomes, particularly when including human support. More high-quality studies are required to examine the benefits of human support within DHIs. Future research should examine the feasibility of sustained adherence and benefits from digital interventions, possibly incorporating human interaction complemented with artificial intelligence, in real-world clinical settings.
Introduction of a Novel Patient Safety Advisory: Evaluation of Perceived Information With a Modified QPP Questionnaire—A Case-Control Study
Authors: Tubic Bojan , Bånnsgård Margareta , Gustavsson Susanne , Engström My , Moreno Johanna , Finizia Caterina 
Published: September 2024

Objectives
Adverse events (AEs) may result in serious injuries or death. AEs occur in approximately 9.2% of hospitalizations, with a potential preventability of 43.5%. The aim of this study was to examine whether use of an illustrated patient safety advisory affected information transfer to inpatients regarding how they can participate in their own care to decrease the risk of AEs.

Methods
All patients in the control (n = 129) and case/intervention (n = 511) groups received verbal information from healthcare personnel. The intervention group also received the illustrated patient safety advisory, “Your safety at the hospital.” Before discharge, patients completed the Quality from the Patient’s Perspective questionnaire.

Results
Mean patient age was 64.6/62.4 years in the intervention/control group, respectively, and 50% were men. Significant differences between groups were observed for most questions presented from the perceived reality of care perspective, in favor to the intervention group. Patients at surgical wards indicated higher scores on 9 of 12 Quality from the Patient’s Perspective questions. Patients with hospital stays ≥4 days, at surgical wards, and living with someone else, placed higher subjective importance to questions concerning, e.g., protection/infection, nutrition, risk of falls and pressure ulcers, and discharge information.

Conclusions
Using an illustrated patient safety advisory to complement oral information about patient safety risks resulted in positive responses and a significant difference was demonstrated in how information is perceived. The safety advisory could be used as a tool to decrease AEs. Patients who live alone may need more focused patient safety information to encourage involvement in their own care.
A workflow for clinical profiling of BRCA genes in Chilean breast cancer patients via targeted sequencing
Authors: González Evelin , Moreno Salinas Rodrigo , Muñoz Manuel , Lantadilla Herrera Soledad , Cabrera Morales Mylene , Jullian Pastor , Ebner Durrels Waleska , Vigueras Stari Gonzalo , Anabalón Ramos Javier , Miquel Juan Francisco , Jara Lilian , Moraga Carol , Di Genova Alex 
Published: September 2024

AbstractBackgroundBreast cancer (BC) is the leading cause of cancer-related deaths among women globally and in Chile. Mutations in the tumor-suppressor genes BRCA1 and BRCA2 significantly increase the risk of developing cancer, with the probability rising by more than 50%. Identifying pathogenic variants in BRCA1 and BRCA2 is crucial for both diagnosis and treatment. Targeted panels, which focus on medically relevant subsets of genes, have become essential tools in precision oncology. Beyond technical and human resource factors, standardized bioinformatics workflows are essential for the accurate interpretation of results. We developed a robust bioinformatics pipeline, implemented with Nextflow, to process sequencing data from targeted panels to identify germline variants.ResultsWe developed an automated and reproducible pipeline using Nextflow for the targeted sequencing of BRCA1/2 genes. The pipeline incorporates two variant callers, Strelka and DeepVariant, both of which have demonstrated high performance in detecting germline SNVs and indels. The runtime is efficient, with a median execution time of less than 3 minutes per task. We sequenced and processed 16 samples from breast cancer patients. In our analysis, we identified 8 nonsynonymous mutations inBRCA1and 9 inBRCA2. Of the total reported germline mutations, 97% were classified as benign, 1% as pathogenic, 1% as of uncertain significance, and 1% as unknown. The allelic frequencies observed in our cohort closely resemble those of Admixed American and South Asian populations, with the greatest divergence observed in comparison to African individuals.ConclusionWe successfully analyzed theBRCA1andBRCA2genes in 16 breast cancer patients at a public hospital in Chile. A custom Nextflow pipeline was developed to process the sequencing data and evaluate the pathological significance of the identified genetic variants. By employing multiple variant-calling methodologies, we were able to detect and mitigate potential false positives, thereby enhancing the accuracy and reliability of variant detection through cross-verification. A pathogenic variant was identified in one patient, while benign or likely benign variants were found in the remaining 15. Expanding the number of oncogenes sequenced per patient could improve the detection of actionable variants.
Demographic and Historical Processes InfluencingCochliomyia hominivorax(Diptera: Calliphoridae) Population Structure across South America
Authors: Souza Kelly da Silva e , de Paula Letícia Chiara Baldassio , Azeredo-Espin Ana Maria Lima de , Torres Tatiana Teixeira 
Published: September 2024

AbstractBackgroundThis study investigates the genetic variability and population structure ofCochliomyia hominivorax, the New World screwworm fly. This study tested the hypothesis that the species exhibits a center-periphery distribution of genetic variability, with higher genetic diversity in central populations (e.g., Brazil) and lower diversity in peripheral populations.MethodsUtilizing microsatellite markers, we analyzed larvae collected from infested livestock across South America. Larvae were collected directly from various wound sites to ensure a broad representation of genetic diversity.ResultsContrary to our initial hypothesis, the results revealed consistent genetic variability across the species’ distribution, low population differentiation, and no evidence of isolation-by-distance patterns among subpopulations. The genetic analysis indicated an excess of homozygotes, potentially due to the Wahlund effect, null alleles, or selection pressure.ConclusionsThese findings suggest a complex metapopulation structure forCo. hominivorax, challenging classical population genetics models. This complexity likely arises from the species’ high dispersal capability and frequent local extinctions followed by recolonization. These results have important implications for the design and implementation of control programs, emphasizing the need for coordinated and large-scale actions rather than isolated initiatives.
Galar- a large multi-label video capsule endoscopy dataset
Authors: Le Floch Maxime , Wolf Fabian , McIntyre Lucian , Weinert Christoph , Palm Albrecht , Volk Konrad , Herzog Paul , Kirk Sophie Helene , Steinhäuser Jonas L. , Stopp Catrein , Geissler Mark Enrik , Herzog Moritz , Sulk Stefan , Kather Jakob Nikolas , Meining Alexander , Hann Alexander , Palm Steffen , Hampe Jochen , Herzog Nora , Brinkmann Franz 
Published: September 2024

ABSTRACTVideo capsule endoscopy (VCE) is an important technology with many advantages (non-invasive, representation of small bowel), but faces many limitations as well (time-consuming analysis, short battery lifetime, and poor image quality). Artificial intelligence (AI) holds potential to address every one of these challenges, however the progression of machine learning methods is limited by the avaibility of extensive data. We proposeGalar, the most comprehensive dataset of VCE to date.Galarconsists of 80 videos, culminating in 3,513,539 annotated frames covering functional, anatomical, and pathological aspects and introducing a selection of 29 distinct labels. The multisystem and multicenter VCE data from two centers in Saxony (Germany), was annotated framewise and cross-validated by five annotators. The vast scope of annotation and size ofGalarmake the dataset a valuable resource for the use of AI models in VCE, thereby facilitating research in diagnostic methods, patient care workflow, and the development of predictive analytics in the field.
Screening for avoidant restrictive food intake disorder (ARFID) in primary care: clinical presentation and validation of the ARFID-Brief Screener in Swedish preschoolers
Authors: Dinkler Lisa , Brimo Katarzyna , Holmäng Helena , Yasumitsu-Lovell Kahoko , Kuja-Halkola Ralf , Kantzer Anne-Katrin , Omanovic Zerina , Suganuma Narufumi , Eitoku Masamitsu , Fujieda Mikiya , Fernell Elisabeth , Möllborg Per , Bryant-Waugh Rachel , Gillberg Christopher , Råstam Maria 
Published: September 2024

AbstractObjectiveLittle is known about the prevalence and clinical presentation of avoidant restrictive food intake disorder (ARFID) in preschool children, and well-validated, parent-reported screening tools are lacking. This study evaluated the diagnostic validity of the parent-reported ARFID-Brief Screener in preschool children and examined prevalence and clinical characteristics of ARFID.MethodParents of 645 children (50.5% male, mean age 3.2 years) completed the ARFID-Brief Screener in connection with the 2.5- and 4-year routine check-ups at 21 child health services centers in West Sweden. Parents of all screen-positive and of randomly selected screen-negative children were invited to a clinical follow-up interview via phone. Co-occurring neurodevelopmental problems were assessed via questionnaire, clinical examination, and health care records.ResultsOf 42 (6.5%) children screening positive for ARFID, 29 were followed up via interview, and ARFID diagnosis was confirmed in 21 (positive predicted value 72%; other diagnostic metrics: negative predictive value 94%, sensitivity 91%, specificity 79%, and overall accuracy 84%. The adjusted prevalence of ARFID was 5.9%. All children with ARFID presented with both sensory-based avoidance and low interest, and the majority (65.2%) met criteria solely through DSM-5 criterion A4 (marked interference with psychosocial functioning). The ARFID group had significantly more co-occurring neurodevelopmental problems.DiscussionARFID is not rare among preschoolers, although prevalence might have been slightly overestimated here. The ARFID–Brief Screener showed high diagnostic validity, but follow-up assessments are necessary to confirm diagnoses and reduce false positives. Co-occurring neurodevelopmental problems were common in ARFID and may serve as early markers of increased ARFID risk.Public Significance StatementThis study provides valuable insights into the occurrence of avoidant restrictive food intake disorder (ARFID) in preschool children, a group previously underrepresented in research. Our findings support the effectiveness of the ARFID-Brief Screener in identifying at-risk children, potentially enabling timely interventions and improving long-term outcomes. The higher prevalence of early-onset neurodevelopmental problems in children with ARFID suggest that they may serve as early markers of increased risk of ARFID.
Genetic Risk of Reticular Pseudodrusen in Age-Related Macular Degeneration:HTRA1/lncRNABX842242.1dominates, with no evidence for Complement Cascade involvement
Authors: Farashi Samaneh , Abbott Carla J , Ansell Brendan RE , Wu Zhichao , Altay Lebriz , Arnon Ella , Arnould Louis , Bagdasarova Yelena , Balaskas Konstantinos , Chen Fred K , Chew Emily , Chowers Itay , Clarke Steven , Cukras Catherine , Delcourt Cécile , Delyfer Marie-Noëlle , den Hollander Anneke I. , Fauser Sascha , Finger Robert P. , Gabrielle Pierre-Henry , Han Jiru , Hodgson Lauren AB , Hogg Ruth , Holz Frank G , Hoyng Carel , Kumar Himeesh , Lad Eleonora M , Lee Aaron , Luhmann Ulrich FO , Mauschitz Matthias M , McKnight Amy J , McLenachan Samuel , Mishra Aniket , Moghul Ismail , Orozco Luz D , Sampson Danuta M , Scott Liam W , Sitnilska Vasilena , Song Scott , Stockwell Amy , Swaroop Anand , Terheyden Jan H , Tiosano Liran , Tufail Adnan , Yaspan Brian L ,   MACUSTAR consortium,   NICOLA consortium, Pébay Alice , Fletcher Erica L , Guymer Robyn H , Bahlo Melanie 
Published: September 2024

AbstractAge-related macular degeneration (AMD) is a multifactorial retinal disease with a large genetic risk contribution. Reticular pseudodrusen (RPD) is a sub-phenotype of AMD with a high risk of progression to late vision threatening AMD. In a genome-wide association study of 2,165 AMD+/RPD+ and 4,181 AMD+/RPD-compared to 7,660 control participants, both chromosomes 1 (CFH) and 10 (ARMS2/HTRA1) major AMD risk loci were reidentified. However association was only detected for the chromosome 10 locus when comparing AMD+/RPD+ to AMD+/RPD-cases. The chromosome 1 locus was notably absent. The chromosome 10 RPD risk region contains a long non-coding RNA (ENSG00000285955/BX842242.1) which colocalizes with genetic markers of retinal thickness.BX842242.1has a strong retinal eQTL signal, pinpointing the parafoveal photoreceptor outer segment layer. Whole genome sequencing of phenotypically extreme RPD cases identified even stronger enrichment for the chromosome 10 risk genotype.