bluuebunny/crossref_metadata_2025_split huggingface dataset:
Arachnoid Cyst Associated With Traumatic Chronic Subdural Hemorrhage in Children
Authors: Xu Tianqi , Chen Jiwu , Xi Bin , Xie Zhiping 
Published: December 2024

Introduction:
It was reported that most arachnoid cyst (AC)-associated chronic subdural hematoma (CSDH) was spontaneous. However, AC with CSDH caused by trauma was extremely scarcely reported. In this paper, the authors reported a successful surgical treatment of a case of AC associated with CSDH after trauma.

Case Presentation:
A 15-year-old girl was admitted with headache and vomiting persisting for 3 days following a head injury received 1 month previously. Head magnetic resonance imaging (MRI) showed a left temporal AC and ipsilateral CSDH. Digital subtraction angiography (DSA) of the brain showed no vascular abnormalities. The patient underwent a left burr hole irrigation and drainage (BHID). The patient recovered well after surgery and was discharged 4 days later.

Clinical Discussion:
This event’s pathogenesis is thought to be caused by vascular rupture around AC. It can not only occur spontaneously but also be caused by varying degrees of head trauma. Surgery is the most common and effective treatment, including BHID, partial/subtotal membrane resection, endoscopic fenestration, and so on.

Conclusion:
Arachnoid cyst (AC) with traumatic CSDH is an extremely scarce condition. Surgery is the most common and effective treatment. Moreover, it is necessary to perform DSA before surgery to rule out cerebral vascular malformations in children and adolescents.
Digital genetic counselling services for cascade cardiogenetic testing: a focus group study on proband, relative, and provider perspectives
Authors: van Lingen Marlies N. , van Till Sietske A. L. , Giesbertz Noor A.A. , Beinema Tessa C. , Ausems Margreet G.E.M. , Klaassen Randy , Cornel Martina C. , van den Heuvel Lieke M. , van Tintelen J.Peter 
Published: December 2024

AbstractDigital interventions are potentially promising to improve accessibility and efficiency of genetic counselling services. However, current literature on stakeholder perspectives towards digital tools for cascade testing is limited. Therefore, this focus group study aimed to gain insights into the attitude and perspectives of probands, at-risk relatives (ARR), and genetic healthcare professionals (HCP) towards digital innovations for assistance with both pre-test and post-test counselling and cascade genetic testing in cardiogenetics. We conducted seven online focus groups, which where transcribed and thematically analysed. In total, 37 individuals participated (10 probands, 11 ARR and 16 HCP). Thematic analysis of focus group transcripts showed a first theme of (1) acceptability of digital tools. Other identified themes were defined as ‘domains’ where digital tools impact traditional, in-person clinical genetic care, being: (2) family communication, (3) decision-making, (4) care relations, and (5) the genetic care system. Stakeholders expressed a predominantly positive attitude towards digitisation of (parts of) the predictive genetic counselling in cardiogenetics, under the condition that access to human contact is preserved. In the clinical setting of predictive counselling, efforts should be made to ensure access to genetic services for all ARR and to protect in-person involvement of HCP.
The membrane-associated ubiquitin ligase MARCHF8 promotes cancer immune evasion by degrading MHC class I proteins
Authors: Khalil Mohamed I. , Wang Jie , Yang Canchai , Vu Lexi , Yin Congcong , Chadha Smriti , Nabors Harrison , Vocelle Daniel , May Danielle G. , Chrisopolus Rachel J. , Zhou Li , Roux Kyle J. , Bernard Matthew P. , Mi Qing-Sheng , Pyeon Dohun 
Published: December 2024

AbstractThe loss of major histocompatibility complex class I (MHC-I) molecules has been proposed as a mechanism by which cancer cells evade tumor-specific T cells in immune checkpoint inhibitor (ICI)-refractory patients. Nevertheless, the mechanism by which cancer cells downregulate MHC-I is poorly understood. We report here that membrane-associated RING-CH-type finger 8 (MARCHF8), upregulated by human papillomavirus (HPV), ubiquitinates and degrades MHC-I proteins in HPV-positive head and neck cancer (HPV+ HNC). MARCHF8 knockdown restores MHC-I levels on HPV+ HNC cells. We further reveal thatMarchf8knockout significantly suppresses tumor growth and increases the infiltration of natural killer (NK) and T cells in the tumor microenvironment (TME). Furthermore,Marchf8knockout markedly increases crosstalk between the cytotoxic NK cells and CD8+T cells with macrophages and enhances the tumor cell-killing activity of CD8+T cells. CD8+T cell depletion in mice abrogatesMarchf8knockout-driven tumor suppression and T cell infiltration. Interestingly,Marchf8knockout, in combination with anti-PD-1 treatment, synergistically suppresses tumor growth in mice bearing ICI-refractory tumors. Taken together, our finding suggests that MARCHF8 could be a promising target for novel immunotherapy for HPV+ HNC patients.One Sentence SummaryTargeting MARCHF8 restores MHC-I proteins, induces antitumor CD8+T cell activity, and suppresses the growth of ICI-refractory tumors.
Cardiovascular autonomic dysfunction is linked with arterial stiffness across glucose metabolism: The Maastricht Study
Authors: Schaarup Jonas R. , Bjerg Lasse , Hansen Christian S. , Andersen Signe T. , van Greevenbroek Marleen , Schram Miranda T. , de Galan Bastiaan E. , Stehouwer Coen , Witte Daniel R. 
Published: December 2024

AbstractObjectiveTo ascertain the cross-sectional association between cardiovascular autonomic function and arterial stiffness across glucose metabolism status.MethodsWe performed a cross-sectional analysis of participants of The Maastricht Study without prior CVD. Cardiovascular autonomic function was based on heart rate variability (HRV) indices from 24-hour electrocardiogram recordings and summarized in Z-scores for time and frequency domains. Aortic and carotid stiffness were assessed by carotid-femoral pulse wave velocity (PWV) and carotid artery distensibility (CD), respectively. We used multiple linear regression to study the associations and adjusted for demographic and lifestyle factors and a range of cardiovascular risk factors. We tested the modification of the associations by glucose metabolism status.ResultsPWV and CD measures were available in 3671 and 1806 participants, respectively (median (25th; 75thpercentile) age: 60 years (53; 66), 51% women, 20 % type 2 diabetes by design. Participants with lower HRV had higher aortic stiffness, as reflected by 2.8% (CI: 2.1; 3.4) and 2.8% (2.1; 3.5) higher PWV per standard deviation (SD) lower composite HRV time-domain and frequency domain Z-score, respectively. Similar trends were observed for carotid stiffness, reflected by 3.2% (1.4; 5.0) and 3.1% (1.2; 5.0) lower CD per SD lower composite HRV time-domain and frequency domain Z-score, respectively. Associations were stronger among people with prediabetes and type 2 diabetes compared to normal glucose metabolism (p-value for interaction for prediabetes: <0.05; and for type 2 diabetes ranging between: <0.05 - <0.10).ConclusionCardiovascular autonomic dysfunction is associated with higher aortic and carotid stiffness, especially in people with dysglycemia. Thus, autonomic dysfunction may contribute to cardiovascular risk by affecting vascular stiffness.Short abstractThis study investigates the association between cardiovascular autonomic function and arterial stiffness in 3,671 participants of The Maastricht Study without prior CVD. Cardiovascular autonomic function was assessed using 24-hour heart rate variability (HRV). Aortic stiffness was measured by pulse wave velocity (PWV), and carotid stiffness by carotid artery distensibility (CD). Lower HRV was associated with 2.8–3.2% higher PWV and 3.1–3.2% lower CD per SD decrease in HRV Z-scores, with stronger associations observed in individuals with dysglycemia. These findings suggest that autonomic dysfunction may increase cardiovascular risk through effects on vascular stiffness, particularly in prediabetes and diabetes.
Shorter leukocyte telomere length is associated with distinct CSF biomarker dynamics across early AD stages in at-risk individuals
Authors: Rodríguez-Fernández Blanca , González-Escalante Armand , Genius Patricia , Evans Tavia , Ortiz-Romero Paula , Minguillón Carolina , Kollmorgen Gwendlyn , Ashton Nicholas A. , Zetterberg Henrik , Blennow Kaj , Gispert Juan Domingo , Navarro Arcadi , Suárez-Calvet Marc , Sala-Vila Aleix , Crous-Bou Marta , Vilor-Tejedor Natàlia ,   ALFA study
Published: December 2024

AbstractINTRODUCTIONTelomere length (TL) is a hallmark of biological aging. Shorter TL has been linked to an increased risk of Alzheimer’s disease (AD), but its role in AD pathophysiology remains unclear. This study investigates the relationship between TL, longitudinal cerebrospinal fluid (CSF) AD biomarkers, and brain structure in cognitively unimpaired (CU) individuals at risk for AD.METHODSWe analyzed data from 346 middle-aged CU ALFA+ participants, measuring leukocyte TL (LTL) by qPCR. AD-related CSF biomarkers were measured at baseline and after 3 years. Stratified analyses byAPOE-e4 and amyloid-tau (AT) status were conducted.RESULTSShorter LTL was associated with higher astrocytic reactivity and synaptic dysfunction biomarkers, as well as thicker cortex in AD-vulnerable regions. Astrocytic biomarkers mediated the LTL-cortical thickness association. InAPOE-e4 carriers and AT-positive individuals, shorter LTL linked to higher p-tau181 and neurodegeneration markers.CONCLUSIONThese findings highlight telomere shortening as a potential contributor of early AD-related progression.HighlightsShorter leukocyte telomere length (LTL) was associated with higher levels of cerebrospinal fluid (CSF) GFAP, CSF S100B and CSF α-synuclein, independently of amyloid and tau pathology.Shorter LTL was associated with higher baseline CSF NfL and t-tau levels in the A+T- and A+T+ groups, respectively.LTL association with brain structure was partially mediated by CSF biomarkers of astrocytic reactivity.Research in context1.Systematic review:Literature review was performed using traditional sources (e.g., PubMed). While the association between leukocyte telomere length (LTL) shortening and increased sporadic AD risk is well-documented, its role in AD pathogenesis remains unclear. These findings have been appropriately referenced.2.Interpretation:In cognitively unimpaired adults at higher risk for AD, shorter LTL was associated with high AD-related cerebrospinal fluid (CSF) biomarkers, including p-tau181 and biomarkers of neurodegeneration, synaptic dysfunction, glial reactivity, and inflammation. These associations were either more pronounce or exclusively observed inAPOE-e4 carriers and individuals with early AD pathology (measured by CSF Aβ42/40 and p-tau181). Furthermore, increased astrocytic reactivity mediated the relationship between LTL and brain structure integrity.3.Future directions:Further research is needed to understand the role of peripheral aging in AD pathology. Investigating how peripheral immune aging influences brain homeostasis and AD progression could help identify early targets of neuroinflammation and neurodegeneration.
Weighted analysis of symptom profile by vaccination status in positive SARS-CoV-2 cases: observational study in São Gonçalo, Brazil
Authors: Rangel das Chagas Raphael , Freitas Hércules Rezende , Cardozo Sergian Vianna 
Published: December 2024

AbstractThis study investigates symptom associations in SARS-CoV-2 positive individuals based on vaccination status. Unvaccinated individuals exhibited significantly higher odds of experiencing severe symptoms, including fever > 38.5□°C (logOR = 3.64, 95% CI: 1.52–5.77, p = 0.0008), rhinitis (logOR = 2.94, 95% CI: 0.82–5.05, p = 0.0065), headache (logOR = 2.17, 95% CI: 0.06–4.28, p = 0.0436), and myalgia (logOR = 3.25, 95% CI: 1.17–5.34, p = 0.0023). Conversely, unvaccinated individuals were less likely to report cough (logOR = -2.44, 95% CI: -4.53 to -0.34, p = 0.0226), potentially reflecting behavioral factors related to vaccine hesitancy. Among vaccinated participants, symptom profiles varied by vaccine type. Both Oxford-AstraZeneca and Pfizer-BNT162b2 vaccines were associated with increased odds of loss of smell (logOR = 0.81 and 1.47, respectively) and loss of taste (logOR = 0.75 for Oxford-AstraZeneca). Additionally, the Oxford-AstraZeneca vaccine was linked to dyspnea (logOR = 0.85, 95% CI: 0.02–1.69, p = 0.0449). These findings suggest that vaccination reduces the likelihood of severe systemic and respiratory symptoms while influencing specific symptom manifestations in breakthrough cases. Ongoing research is essential to understand vaccine-specific immune responses and their impact on clinical outcomes.
“I Been Taking Adderall Mixing it With Lean, Hope I Don’t Wake Up Out My Sleep”: Harnessing Twitter to Understand Nonmedical Prescription Stimulant Use among Black Women and Men Subscribers
Authors: Webster Joni-Leigh , Lakamana Sahithi , Ge Yao , Sarker Abeed 
Published: December 2024

AbstractBlack women and men outpace other races for stimulant-involved overdose mortality despite lower lifetime use. Growth in mortality from prescription stimulant medications is increasing in tandem with prescribing patterns for these medications. We used Twitter to explore nonmedical prescription stimulant use (NMPSU) among Black women and men using emotion and sentiment analysis, and topic modeling. We applied the NRC Lexicon and VADER dictionary, and LDA topic modeling to examine feelings and themes in conversations about NMPSU by gender. We paid attention to the ability of natural language processing techniques to detect differences in emotion and sentiment among Black Twitter subscribers given increased mortality from stimulants. We found that, although emotion and sentiment outcomes match the directionality of emotions and sentiment observed (i.e., Black Twitter subscribers use more positive language in tweets), this belies limitations of NRC and VADER dictionaries to distinguish feelings for Black people. Even still, LDA topic models showcased the relevance of hip-hop, dependence on NMPSU, and recreational use as consequential to Black Twitter subscribers’ discussions. However, gender shaped the relevance of these topics for each group. Greater attention needs to be paid to how Black women and men use social media to discuss important topics like drug use. Natural language processing methods and social media research should include larger proportions of Black, Hispanic/Latinx, and American Indian populations in development of emotion and sentiment lexicons, otherwise outcomes regarding NMPSU will not be generalizable to populations writ large due to cultural differences in communication about drug use online.
NeoCLIP: A Self-Supervised Foundation Model for the Interpretation of Neonatal Radiographs
Authors: Huang Yixuan , Sharma Puneet , Palepu Anil , Greenbaum Nathaniel , Beam Andrew , Beam Kristyn 
Published: December 2024

AbstractImportanceArtificial intelligence (AI) based on deep learning has shown promise in adult and pediatric populations in the interpretation of medical imaging to make important diagnostic and management recommendations. However, there has been little work developing new AI methods for neonatal populations.ObjectiveTo develop a novel, deep contrastive learning model to predict a comprehensive set of pathologies from radiographs relevant to neonatal intensive care.Design, Setting, and ParticipantsWe identified a retrospective cohort of infants who obtained a radiograph while admitted to a large neonatal intensive care unit in Boston, MA from January 2008 to December 2023. After collecting radiographs with corresponding reports and relevant demographics for all subjects, we randomized the cohort into three sets: training (80%), validation (10%), and test (10%).InterventionsWe developed a deep learning model, NeoCLIP, to identify 15 unique pathologies and 5 medical devices relevant to neonatal intensive care on plain film radiographs. The pathologies were automatically extracted from radiology reports using a custom pipeline based on large language models.Main Outcomes and MeasuresWe compared the performance of our model, as defined by AUROC, against various baseline methods.ResultsWe identified 4,629 infants which were randomized into the training (3,731 infants), validation (419 infants), and test (479 infants) sets. In total, we collected 20,154 radiographs with a corresponding 15,795 reports. The AUROC of our model was greater than all baseline methods for every radiographic finding other than portal venous gas. The addition of demographics improved the AUROC of our model for all findings, but the difference was not statistically significant.Conclusions and RelevanceNeoCLIP successfully identified a broad set of pathologies and medical devices on neonatal radiographs, outperforming similar models developed for adult populations. This represents the first such application of advanced AI methodologies to interpret neonatal radiographs.
Learning Outcomes that Maximally Differentiate Psychiatric Treatments
Authors: Strobl Eric V. , Kim Semmie 
Published: December 2024

AbstractObjectiveMatching each patient to the most effective treatment option(s) remains a challenging problem in psychiatry. Clinical rating scales often fail to differentiate between treatments because most treatments improve the scores of all individual items at only slightly varying degrees. As a result, nearly all clinical trials in psychiatry fail to differentiate between active treatments.MethodsWe introduce a new statistical technique called Supervised Varimax (SV) that corrects this problem by accurately detecting large treatment differences directly from original clinical trial data. The algorithm combines the individual items of a clinical rating scale that onlyslightlydiffer between treatments into a few scores thatgreatlydiffer between treatments. We applied SV to multi-center, double-blind and randomized clinical trials called CATIE and STAR*D which were long thought to identify few to no differential treatment effects.ResultsSV identified optimal outcomes harboring large differential treatment effects in Phase I of CATIE (absolute sum = 1.279,p= 0.002). Post-hoc analyses revealed that olanzapine is more effective than quetiapine and ziprasidone for hostility in chronic schizophrenia (difference = −0.284,pFWER= 0.047; difference = −0.283,pFWER= 0.048), and perphenazine is more effective than ziprasidone for emotional dysregulation (difference = −0.313,pFWER= 0.020). SV also discovered that bupropion augmentation is more effective than buspirone augmentation for treatment-resistant depression with increased appetite from Level 2 of STAR*D (difference = −0.280,pFWER= 0.003).ConclusionsSV represents a powerful methodology that enables precision psychiatry from clinical trials by optimizing the outcome measures to differentiate between treatments.
Adaptive replication origin activation alters chromatin dynamics and stability in cancer cells
Authors: Pérez-Venteo Alejandro , Unzueta Fernando , Feu Sonia , Llinàs-Arias Pere , Mauvezin Caroline , Agell Neus 
Published: December 2024

ABSTRACTGenome duplication, critical for cell survival and identity, requires precise origin activation to ensure accurate DNA replication and chromatin structure maintenance. In colorectal cancer cells, prolonged replication stress does not hinder cell proliferation, although the mechanisms driving cancer cell adaptability remain largely unclear. Here, we demonstrate that upon recovery, cancer cells are able to activate new replication origins in distinct domains, causing persistent changes in chromatin accessibility, nuclear morphology, and replication timing, ultimately promoting chromatin instability. Chromatin accessibility, particularly in promoter regions, increased following replication stress in a subset of cells, correlating with altered gene expression and nuclear expansion. Additionally, some genes with enhanced promoter accessibility displayed sustained expression changes, further suggesting a transcriptional shift linked to stress adaptation. Our findings reveal that colorectal cancer cells recover from severe replication stress through new origin activation, a mechanism that not only maintains cell proliferation under stress but may also accelerate tumour heterogeneity. This research underscores replication origin activation as a potential therapeutic target in combating cancer cell resilience.GRAPHICAL ABSTRACTMAIN HIGHLIGHTSColorectal cancer cells under severe replication stress activate new replication origins upon recovery.The firing of new origins in distinct replication domains results in long-lasting changes in chromatin accessibility, especially in promoter regions, and is associated with alterations in nuclear morphology and replication timing.Increased chromatin accessibility in certain promoter regions correlates with prolonged gene expression changes.The capacity of CRC cells to recover from severe replication stress fosters chromatin instability and tumour heterogeneity.
Bluetongue virus serotype 12 in the Netherlands in 2024 - A BTV serotype reported in Europe for the first time
Authors: van den Brom René , Santman-Berends Inge , van der Heijden Mark G. , Harders Frank , Engelsma Marc , van Gennip Rene G.P. , Maris-Veldhuis Mieke A. , Feddema Arno-Jan , Peterson Karianne , Golender Natalia , Spierenburg Marcel , van Rijn Piet A. , Holwerda Melle 
Published: December 2024

AbstractBluetongue (BT) is a viral midge borne disease primarily affecting ruminants such as sheep, cattle, and goats. In 2023, the Netherlands reported the first case of bluetongue virus serotype 3 (BTV-3), after being BTV free for eleven years. Since May 2024, vaccination with inactivated BT vaccines for serotype 3 was applied in the Netherlands. Nonetheless, in late June/July 2024, BTV-3 re-emerged and spread over large parts of Europe. In October 2024, BTV-12 was identified by follow-up diagnostics after a BTV-3 vaccinated sheep with signs of BT was tested positive for BTV but negative for serotype 3. This marks a significant event, as BTV-12 had never been reported in Europe. Screening of farms in close proximity to the sheep farm and retrospective analysis of previously BTV PCR positive tested clinical suspicions, resulted in nine BTV-12 affected farms in total. The emergence of BTV-12 in the Netherlands raises important questions about the route of introduction of BT in the Netherlands and mechanisms of viral spread of this specific serotype. Possible adaptation of new BTV serotypes to the European climatic and husbandry conditions prompts reconsideration of surveillance, prevention, and control strategies in relation to changing ecological conditions and vector dynamics. The initial findings, respective studies as well as the initial attempts to trace the origin of BTV-12 are described.