bluuebunny/crossref_metadata_2025_split huggingface dataset:
A Mendelian randomization study investigating the role of sleep traits and their joint effects on the incidence of atrial fibrillation
Authors: Arora Nikhil , Brumpton Ben Michael , Åsvold Bjørn Olav , Loennechen Jan Pål , Malmo Vegard , Bhatta Laxmi , Skarpsno Eivind Schjelderup , Richmond Rebecca Claire , Strand Linn Beate 
Published: February 2025

Abstract

Background and Aims
Sleep disturbances can induce alterations in functional and electrical properties of the heart, thereby increasing susceptibility to atrial fibrillation (AF). We aimed to test the causal role of different sleep traits and their joint effects on the risk of AF.

Methods
We used an observational cohort study design along with one-sample and factorial Mendelian randomization (MR) approaches to test for individual and joint associations of sleep traits (i.e., insomnia symptoms, sleep duration and chronotype) on the risk of AF using UK Biobank and the second survey of the Trøndelag Health Study (HUNT2).

Results
One-sample MR analysis showed that genetic predisposition to insomnia symptoms (hazard ratio (HR) 1.14; 95% confidence interval (CI) 1.07, 1.21) and short (≤6 h vs. 7-8 h) sleep duration (HR 1.14; 95% CI 1.04, 1.26) increased the risk of AF in UK Biobank. However these findings (HR 0.95; 95% CI 0.81, 1.11 for insomnia symptoms and HR 1.41; 95% CI 0.57, 3.46 for short sleep duration) were not consistent in HUNT2. Factorial MR analysis showed participants with genetic predisposition to both insomnia symptoms and short sleep duration (HR 1.08; 95% CI 1.03, 1.12) had the highest risk of AF, although there was no evidence of interaction (relative excess risk due to interaction (RERI 0.03; 95% CI -0.03, 0.09). However, this finding (HR 0.96; 95% CI 0.89, 1.04) was not consistent in HUNT2. Participants with genetic predisposition to both a morning chronotype and insomnia symptoms (HR 1.08; 95% CI 1.04, 1.13) and a morning chronotype and short sleep (HR 1.06; 95% CI 1.02, 1.10) had the highest risk of AF in UK Biobank, although there was no evidence of interaction (RERI -0.01; 95% CI -0.07, 0.04 and RERI 0.06; 95% CI -0.01, 0.12, respectively).

Conclusions
Our study indicates that insomnia symptoms and short sleep duration are causal risk factors for AF. However, having two sleep traits in combination does not increase risk beyond the additive risk of each individual trait. This reinforces clinical and public health efforts to effectively manage insomnia symptoms and short sleep, in order to mitigate the risk of AF and improve overall cardiovascular health.
Pervasive mitochondrial tRNA gene loss in the clade B of haplosclerid sponges (Porifera, Demospongiae)
Authors: Lavrov Dennis V , Turner Thomas L , Vicente Jan 
Published: February 2025

Abstract
Mitochondrial tRNA gene loss and cytosolic tRNA import are two common phenomena in mitochondrial biology, but their importance is often under-appreciated in animals. This is because the mitochondrial DNA (mtDNA) of most bilaterally symmetrical animals (Bilateria) encodes a complete set of tRNAs required for mitochondrial translation. By contrast, the mtDNA of non-bilaterian animals (phyla Cnidaria, Ctenophora, Porifera, and Placozoa) often contains a reduced set of tRNA genes, necessitating tRNA import from the cytosol.
Interestingly, in many non-bilaterian lineages, tRNA gene content appears to be set early in evolution and remains conserved thereafter. Here, we report that Clade B of Haplosclerid Sponges (CBHS) represents an exception to this pattern, displaying considerable variation in tRNA gene content even among relatively closely related species. We determined mt-genome sequences for eight CBHS species and analyzed them in conjunction with six previously available sequences.
Additionally, we sequenced mt-genomes for two species of haplosclerid sponges outside the CBHS and used eight previously available sequences as outgroups. We found that tRNA gene content varied widely within CBHS, ranging from three in an undescribed Haliclona species (Haliclona sp. TLT785) to 25 in Xestospongia muta and X. testudinaria. Furthermore, we found that all CBHS species outside the genus Xestospongia lacked the atp9 gene, with some also lacking atp8.
Analysis of nuclear sequences from Niphates digitalis revealed that both atp8 and atp9 had transferred to the nuclear genome, while the absence of mt-tRNA genes indicated their genuine loss. We argue that CBHS can serve as a valuable system for studying mt-tRNA gene loss, mitochondrial import of cytosolic tRNAs, and the impact of these processes on mitochondrial evolution.
Ethylene antagonizes ABA and inhibits stomatal closure and chilling tolerance in rice
Authors: Huang Shuying , Wang Huanhuan , Liu Shiyan , Lu Shan , Hua Jian , Zou Baohong 
Published: February 2025

Abstract
Chilling stress restricts the geographical distribution of rice and severely impacts its growth and development, ultimately reducing both yield and quality. The plant hormone ethylene is involved in plant stress responses; however, its role in rice chilling tolerance has not been thoroughly explored. This study reveals that ethylene negatively regulates chilling tolerance in rice by antagonizing the chilling tolerance-promoting effects of abscisic acid (ABA). Treatment with ethylene or its biosynthetic precursor, 1-aminocyclopropane-1-carboxylic acid (ACC), results in a reduced survival rate after chilling and delayed stomatal closure in response to chilling. There are two ethylene signaling-related Raf-like protein kinases, OsCTR1 and OsCTR2, which have overlapping functions in ethylene signaling; their loss-of-function mutants exhibit constitutive ethylene responses. The ctr1 ctr2 double mutant displays lower survival rates and slower stomatal closure under chilling stress compared to the wild type. In contrast, ABA treatment significantly enhances the survival rate of the wild type under chilling stress and promotes stomatal closure in response to chilling. Furthermore, ethylene inhibits the effects of ABA on chilling tolerance and stomatal closure. The ctr1 ctr2 double mutant fails to respond to external ABA treatment regarding stomatal closure and increased survival rate under chilling stress. In conclusion, our findings suggest that ethylene negatively regulates chilling tolerance in rice by inhibiting ABA-induced stomatal closure through the action of OsCTR1 and OsCTR2.
Double the Trouble: Successful Cannulation and Air Transportation of Two Obese Trauma Patients Requiring Extracorporeal Membrane Oxygenation
Authors: Stoffel Steven T , Juhasz Sarah A , Wood Matthew E , Danciu Theodor , Wiggins Amanda R , O’Neil Erika R , Manninen Erik S 
Published: February 2025

ABSTRACT
Acute Respiratory Distress Syndrome (ARDS) is a known and severe complication of thoracic trauma. Many patients, despite appropriate ventilator and medical support, continue to worsen requiring additional cardiopulmonary support with extracorporeal membrane oxygenation (ECMO). Additionally, obesity adds a layer of complexity in the management of trauma ARDS on ECMO. We describe the first U.S. Military air transportation mission via Critical Care Air Transport (CCAT) involving the cannulation and transportation of 2 obese trauma patients requiring ECMO support. We reviewed a cohort of 2 obese patients with ARDS secondary to trauma cannulated for venovenous ECMO and simultaneously transferred via Critical Care Air Transport to a DoD ECMO Center. We describe the logistics involved in the transport and management of obese trauma patients on ECMO. Both patients were safely cannulated and transported without complications, and survived their ECMO run and hospital stay. This is the first air transport of 2 obese ECMO patients simultaneously in U.S. Military history. This transport highlights the safety of cannulation and transportation of obese trauma patients, in addition to the flexibility and logistics needed to successfully complete an ECMO military transport.
Host-Calibrated Time Tree Caps the Age of Giant Viruses
Authors: Tee Hwee Sze , Ku Chuan 
Published: February 2025

Abstract
Viruses are widespread parasites with important impacts on public health, economy, and ecosystems. However, little is known about their origins, ages, and early evolutionary relationships with hosts. Here, we infer the maximum divergence times for eukaryotic giant DNA viruses (phylum Nucleocytoviricota) with dating analyses calibrated by host taxon ages of virus lineages with specific host ranges. The last common ancestor of Nucleocytoviricota existed after 1,000 million years ago, suggesting a much later origin than that of the eukaryotes. The early evolution of Nucleocytoviricota either coincided with or postdated a substantial increase in the oxygen levels on the Earth's surface during the Neoproterozoic Era. The lineage diversification of giant viruses was frequently associated with host shifts, including two major transitions from amoebozoan hosts to animal hosts that eventually led to the emergence of iridoviruses and African swine fever viruses within the last 450 million years. These results outline the evolutionary timescale of a major virus group and are pivotal for further understanding the virus–host interactions and their potential ecological roles in the Earth's history.
The homeotic gene PhDEF regulates production of volatiles in petunia flowers by activating EOBI and EOBII
Authors: Bednarczyk Dominika , Skaliter Oded , Kerzner Shane , Masci Tania , Shklarman Elena , Shor Ekaterina , Vainstein Alexander 
Published: February 2025

Abstract
In petunia (Petunia × hybrida), MADS-box homeotic genes dictate floral organ identity. For instance, DEFICIENS (PhDEF), GLOBOSA1, and GLOBOSA2 (PhGLO1/2) are responsible for petal and stamen identity. However, whether homeotic genes, particularly PhDEF, have a function at the later stages of flower development remains elusive. In petunia flowers, scent production initiates at anthesis, when the flower is ready for pollination, and is triggered by activation of EMISSION OF BENZENOIDS I (EOBI) and EOBII, MYB transcriptional regulators of scent-related genes. Here, we revealed the role of PhDEF in mature flowers, showing that it activates scent production. PhDEF suppression using a transient viral system in petunia flowers led to a significant reduction in volatile emission and pool levels, and in the transcript levels of scent-related transcriptional regulators and enzymes. Promoter activity assays demonstrated that PhDEF activates EOBI, EOBII, and the phenylpropanoid biosynthesis genes L-PHENYLALANINE AMMONIA LYASE and PHENYLACETALDEHYDE SYNTHASE. Our findings underscore the importance of PhDEF in petunia flower development from initiation to maturation and in coordinating petal specification and the establishment of showy pollination-related traits.
Executive Summary of the American Radium Society Appropriate Use Criteria for Management of Squamous Cell Carcinoma of the Cervical Esophagus
Authors:   Expert Panel Management of Cervical Esophageal Cancer, Williams Vonetta M. , Hallemeier Christopher L. , Jethwa Krishan R. , Selfridge J. Eva , Shah Pari , Anker Christopher J. , Abood Gerard , Akselrod Dmitriy , Berlin Jordan , Kim Ed , Kennedy Timothy , Lee Percy , Sharma Navesh , William Small , Tchelebi Leila , Russo Suzanne 
Published: February 2025

Objectives:
Cervical esophageal cancer (CEC) is an uncommon malignancy accounting for <5% of all esophageal carcinomas. Treatment of CEC varies and is adapted from established regimens used for squamous cell carcinoma (SCC) or the lower esophageal and head and neck. The present systematic review and guidelines are intended to assist treatment decision making for patients with CEC based on the available evidence.

Methods:
Using the Population, Intervention, Comparator, Outcome, Timing, and Study Design (PICOTS) framework, the evidence regarding treatment outcomes was assessed using Cochrane and PRISMA 2020 methodology. Eligible studies included prospective Phase II to III trials and retrospective analyses published between January 1, 2013 and February 23, 2024 in the Ovid Medline database. These references were assessed through the American Radium Society (ARS) Appropriate Use Criteria (AUC) methodology. A systematic review PRISMA 2020 checklist confirmed the completion of essential elements. RAND-UCLA consensus methodology was used by the expert panel to rate the appropriateness of the treatment options.

Results:
ARS AUC recommendations include (1) larynx preservation using endoscopic resection (EMR or ESD) alone for the typical case with pT1a cN0 cM0 CEC, (2) definitive CRT for the typical case with cT1bN0M0 in patients who cannot undergo endoscopic resection, (3) larynx-preserving using definitive CRT (with or without induction chemotherapy) for the typical case with nonmetastatic locally advanced CEC (advanced T-stage tumors or involved lymph nodes), with surgery reserved for those patients with incomplete response or locoregional recurrence.

Conclusions:
This ARS AUC summary provides guidelines for the management of SCC of the cervical esophagus provides based on available evidence. Topics that warrant further investigation include optimization of (1) patient selection; (2) multimodality therapies including chemotherapy, immunotherapy, and targeted agents; (3) radiation dose, schedule, and treatment volume; and (4) supportive care for patients with CEC. Ongoing trials continue to improve outcomes for patients with CEC.
BRCA1-Associated Protein-1 Inactivated Melanoma Arising in a Pre-existing Nevus With ALK Fusion and Low Tumor Mutational Burden
Authors: Shaker Nada , Phelps Robert , Niedt George , Sangueza Omar , Krishnan Ramakrishnan , Patel Ankush , Torres-Cabala Carlos , Aung Phyu P. , Prieto Victor , Dumur Catherine I. , Pradhan Dinesh 
Published: February 2025

Abstract:
Breast cancer1-associated protein 1 (BAP-1)-inactivated melanocytic tumors are a group of familial or sporadic lesions with distinctive histology and molecular features. Inherited germline inactivating mutations in BAP1 have been associated with the development of multiple epithelioid melanocytic neoplasms resembling Spitz nevi and increased susceptibility for developing several malignancies, including uveal melanoma, cutaneous melanoma, renal cell carcinoma, mesothelioma, and other tumors. Cutaneous melanoma with loss of BAP1 expression is rare. We present a unique case of BAP1-inactivated melanoma with anaplastic lymphoma kinase (ALK) fusion arising in a pre-existing BAP1-inactivated nevus in a 47-year-old female patient who presented with a dome-shaped red papule on the superior crus of the right antihelix. Histology revealed intradermal melanocytic proliferation with biphenotypic morphology. There was a proliferation of atypical melanocytes showing epithelioid features in the background of nevus. Mitotic figures were identified in the cytologically atypical component of the lesion. Mart-1/Ki67 dual stain demonstrated a higher proliferation index in the larger epithelioid atypical cells, supporting the diagnosis of melanoma. Nuclear BAP-1 expression was lost in the larger atypical cells and associated nevoid cells. Preferentially expressed antigen in melanoma stain demonstrated focal positive staining in 20%–30% of the melanocytes. Immunostaining for B-Raf proto-oncogene, serine/threonine kinase V600E was diffusely positive and ALK demonstrated patchy immunoreactivity in the melanocytic proliferation. Interphase fluorescence in situ hybridization studies showed gains at chromosome 6p25 (Ras responsive element binding protein 1) in the tumor cells. The comprehensive next-generation sequencing revealed B-Raf proto-oncogene, serine/threonine kinase
V600E mutation, TP53 mutation, ALK fusion, BAP1 loss (copy number variation = 0.0, potentially germline), and loss of MAP2K7,
Von Hippel-Lindau tumor suppressor
, FGFR3, CDKN2A, 19q, and telomerase reverse transcriptase. The tumor was microsatellite stable with a low tumor mutational burden (5.76 mutations/Mb). The tumor was completely excised with negative margins. The patient is doing well at 17 months follow-up with no signs of recurrence.
Unraveling the complexity in diagnosis and management of multisystem inflammatory syndrome in children with kawasaki disease mimicry: a case report
Authors: Ansari Abdus Samad , Chaurasia Dhiraj , Kafle Sagar 
Published: February 2025

Introduction and importance:
COVID-19 can lead to a severe complication in children known as Multisystem Inflammatory Syndrome (MIS-C), often mimicking Kawasaki Disease (KD). This study addresses the diagnostic challenges and management of MIS-C.

Case presentation:
A 6-year-old female presented with fever, vomiting and rash. Clinical examination revealed cervical lymphadenopathy, periungual desquamation, lip fissures and abdominal tenderness. Echocardiography showed RCA dilatation. These findings suggested multisystem involvement and fulfilled the criteria of typical KD. The treatment was started accordingly with IVIG and empirical antibiotics. However, the confirmation of presence of SARS CoV 2 antibody led to substantial shift of diagnosis to MIS-C. Despite initial treatment, fever persisted, thus, Intravenous steroid was started which led to significant clinical improvement, rendering her almost asymptomatic in 2 weeks.

Clinical discussion:
Distinguishing MIS-C from KD is critical. Diagnostic criteria, epidemiology, and lab markers play a vital role. The case underscores the importance of recognizing subtle differences for accurate diagnosis and effective management.

Conclusion:
MIS-C, resembling KD, poses diagnostic complexities. This case emphasizes the need for clinicians to consider MIS-C in children with persistent fever and multisystem involvement post-COVID-19 exposure. Timely diagnosis and intervention are paramount for favorable outcomes in this emerging pediatric condition, urging increased awareness and reporting among healthcare professionals.
Exercise-based cardiac rehabilitation for heart failure: effects on echocardiographic parameters and functional capacity: a randomized clinical trial
Authors: Mahmoodi Zahra , Salari Arsalan , Ahmadnia Zahra , Roushan Zahra Atrkar , Gholipour Mahboobeh , Sedighinejad Abbas 
Published: February 2025

Background:
Multiple comorbidities and physiological changes play a role in a range of heart failure (HF) conditions and influence the most effective approach to exercise-based rehabilitation.This research aimed to examine and compare the outcomes of concurrent exercise training, focusing on echocardiographic parameters and functional capacity of patients with heart failure with reduced ejection fraction (HFrEF).

Materials and Methods:
In this randomized control trial, a total of 76 patients (average age: 68.2 ± 4.8 years) with HFrEF were randomly allocated into two groups: intervention group (IG, N = 38) and control group (CG, N = 38) that IG performed an eight weeks concurrent exercise training (3 aerobic and 2 resistance exercise sessions/ week) and daily breathing exercises.

Echocardiographic parameters (left ventricular ejection fraction, left ventricular end-diastolic dimension, left ventricular end-systolic dimension, and functional capacity (6-minute walking test) were assessed before and the end of the study.

Results:
The comparison of CG and IG showed that 6MWT (204.2 ± 28.72 vs.273 ± 38.37) and EF (28.28 ± 4.39 vs.37.23 ± 6.54) had increased, and LVEDD (53.89 ± 4.73 vs. 46.71 ± 5.35), LVESD (45.55 ± 4.8 vs. 39 ± 5.26) had decreased after 8 weeks, respectively (p < 0/05).

Conclusion:
In summary, this study provides compelling evidence that exercise-based cardiac rehabilitation can lead to meaningful improvements in echocardiographic parameters and functional capacity among older adults with heart failure, advocating for its broader implementation in clinical settings.
Unusual presentation of bezoars and foreign body insertion in the breast as a self-harm behavior: a case report
Authors: Rehman Ibad Ur , Farooqui Fareeha , Aqeel Raheela , Qaiser Aabia , Waseem Sania , Amir M. Ayhan , Okon Inibehe Ime , Satti Rida Altaf , Shah Syed Qamber Ali , Iqbal Khadija 
Published: February 2025

Introduction and importance:
Although they are uncommon, self-inflicted foreign bodies in the breast pose special care difficulties. Since underlying psychological issues are frequently linked to these instances, early detection and a multidisciplinary approach are necessary to improve results.

Case presentation:
Over the course of four to five months, a 28-year-old mother developed recurring breast abscesses and draining sinuses. An ultrasound showed a cord-like structure with fluid accumulation in the right breast, and CT imaging identified the foreign matter as a broken safety pin. Saline irrigation and surgical excision were carried out. Bipolar disorder was diagnosed during a meeting with a psychiatrist. Other foreign objects, such as two hair tufts and a broken needle, were found during follow-up and extracted under local anesthetic. Because the patient did not take their psychiatric medication as prescribed, they were lost to follow-up.

Clinical discussion:
Patients with unexplained breast complaints or recurrent abscesses should be evaluated for self-inflicted foreign bodies. This instance emphasizes the value of a multidisciplinary strategy that addresses the psychological as well as the physical aspects of self-harm by combining psychiatric treatment with surgical intervention.

Conclusion:
Physicians need to be on the lookout for self-inflicted foreign bodies, especially in patients who have inconsistent medical histories or mental health conditions. Improving patient outcomes requires early discovery and thorough treatment, which includes psychological support.
Validation of an Artificial Intelligence-Powered Virtual Assistant for Emergency Triage in Neurology
Authors: Alessandro Lucas , Crema Santiago , Castiglione Juan I. , Dossi Daiana , Eberbach Federico , Kohler Alejandro , Laffue Alfredo , Marone Abril , Nagel Vanesa , Pastor Rueda José M. , Varela Francisco , Fernandez Slezak Diego , Rodríguez Murúa Sofía , Debasa Carlos , Claudio Pensa , Farez Mauricio F. 
Published: February 2025

Objectives:
Neurological emergencies pose significant challenges in medical care in resource-limited countries. Artificial intelligence (AI), particularly health chatbots, offers a promising solution. Rigorous validation is required to ensure safety and accuracy. Our objective is to evaluate the diagnostic safety and effectiveness of an AI-powered virtual assistant (VA) designed for the triage of neurological pathologies.

Methods:
The performance of an AI-powered VA for emergency neurological triage was tested. Ten patients over 18 years old with urgent neurological pathologies were selected. In the first stage, 9 neurologists assessed the safety of the VA using their clinical records. In the second stage, the assistant’s accuracy when used by patients was evaluated. Finally, VA performance was compared with ChatGPT 3.5 and 4.

Results:
In stage 1, neurologists agreed with the VA in 98.5% of the cases for syndromic diagnosis, and in all cases, the definitive diagnosis was among the top 5 differentials. In stage 2, neurologists agreed with all diagnostic parameters and recommendations suggested by the assistant to patients. The average use time was 5.5 minutes (average of 16.5 questions). VA showed superiority over both versions of ChatGPT in all evaluated diagnostic and safety aspects (P<0.0001). In 57.8% of the evaluations, neurologists rated the VA as “excellent” (suggesting adequate utility).

Conclusions:
In this study, the VA showcased promising diagnostic accuracy and user satisfaction, bolstering confidence in further development. These outcomes encourage proceeding to a comprehensive phase 1/2 trial with 100 patients to thoroughly assess its “real-time” application in emergency neurological triage.