bluuebunny/crossref_metadata_2025_split huggingface dataset:
Routine discussion of previous trauma in the perinatal period: Insights from interviews with women, voluntary sector representatives, and maternity care providers
Authors: Cull Joanne , Thomson Gill , Downe Soo , Fine Michelle , Topalidou Anastasia 
Published: October 2024

AbstractBackgroundMany pregnant women have a history of trauma, such as abuse or violence, which can significantly impact their mental and physical health. Discussing these experiences in maternity care presents an opportunity to support women, reduce stigma, and connect them with resources. However, concerns persist about stigmatisation, re-traumatisation and unwarranted safeguarding referrals. As part of a larger study that aimed to develop a methodology for conducting trauma discussions, interviews were carried out with a range of stakeholders.MethodsSemi-structured interviews were conducted with women with trauma histories (experts by experience; n=4), representatives of voluntary sector organisations (n=7), and healthcare providers (n=12). Reflexive thematic analysis was used to analyse the data. The study employed a critical participatory action research approach, supported by a Patient and Public Involvement & Engagement group (named as the ‘Research Collective’ for this study) comprising experts by experience, maternity care professionals, and voluntary sector practitioners. The group contributed to both the design and analysis phases of the research.FindingsFive key themes emerged from the interviews, exploring both the benefits and challenges of trauma discussion in maternity care. Participants reflected on who should lead these discussions, the appropriate settings and timings, and strategies for effective communication. The emotional and training needs of care providers conducting trauma discussions were also highlighted.ConclusionTrauma discussions in maternity care are a complex but necessary intervention that require careful consideration of timing, communication, and referral pathways. This paper offers concrete steps towards creating a more empathetic and supportive maternity care environment.Statement of SignificanceProblemTraumatic experiences such as abuse or violence contribute to long term mental and physical health problems.What is already knownRaising the issue of previous trauma within maternity care offers an opportunity to provide support, but if handled insensitively can be distressing to women.What this paper addsThis paper shows that discussing trauma is complex and requires a system-wide approach which addresses when, where, and how to talk about trauma, referral pathways, and the need for training and support for maternity care providers. It also offers insights on conducting these discussions sensitively and effectively.
Clinical signatures ofSYNGAP1-related disorders through data integration
Authors: McKee Jillian L. , Magielski Jan H. , Xian Julie , Cohen Stacey , Toib Jonathan , Chen Chen , Kim Dan , Rathod Aakash , Brimble Elise , Fitter Nasha , Graglia J. Michael , Helde Kathryn A. , Boland Michael J. , Ruggiero Sarah McKeown , Sederman Rob , Helbig Ingo 
Published: October 2024

ABSTRACTObjectiveTo characterize the longitudinal disease and treatment histories of individuals withSYNGAP1-related disorders.MethodsParticipants withSYNGAP1were identified from a range data data sources, including insurance claims data by ICD-10 diagnosis codes (n=246), a specialized medical record registry and a local cohort followed at a single tertiatry health care institution (n=158).ResultsCompared to a broader population of individuals with epilepsy, phenotypes associated withSYNGAP1disorders included behavioral abnormalities (Odds ratio (OR) 12.35, 95% CI 9.21–16.78), generalized-onset seizures (OR 1.56, CI 1.20–2.02), and autism (OR 12.23, CI 9.29–16.24). A wide range of clinical features showed distinct age-related patterns, such as a more than five-fold risk of autistic behavior emerging between 27 and 30 months. Generalized-onset seizures became significantly enriched (OR 4.05, CI 2.02–7.59) after 3 years of age and persisted over time. Valproic acid (OR 2.26, CI 1.29–3.70) and clobazam (OR 2.58, CI 1.55–4.09) were commonly used for epilepsy management, which contrasted significantly from treatment strategies in the broader epilepsy cohort. Furthermore, valproate and lamotrigine were more effective at reducing seizure frequencies or maintaining seizure freedom than other anti-seizure medications. Risperidone, aripiprazole, and guanfacine were commonly used for behavioral features.InterpretationPhenotypic features specific toSYNGAP1included a predominance and age-dependence of generalized seizures, a more than ten-fold risk of behavioral abnormalities, and a developmental profile with prominent deficits in verbal skill acquisition. Clear delineation of trajectories ofSYNGAP1-related disorders will improve diagnosis, prognosis, and clinical care, facilitating clinical trial readiness.
Investigating Mood and Cognition in People with Multiple Sclerosis: A Prospective Study Protocol
Authors: Cooper Elena C. , Schindler Matthew K. , Bar-Or Amit , Brandstadter Rachel B. , Calkins Monica E. , Gur Ruben C. , Jacobs Dina A. , Markowitz Clyde E. , Moore Tyler M. , Naydovich Laura R. , Perrone Christopher M. , Ruparel Kosha , Spangler Bailey C. , Troyan Scott , Shinohara Russell T. , Satterthwaite Theodore D. , Baller Erica B. 
Published: October 2024

ABSTRACTMultiple sclerosis (MS) is an immune-mediated neurological disorder that affects one million people in the United States. Up to 50% of people with MS experience depression, yet the mechanisms of depression in MS remain under-investigated. Studies of medically healthy participants with depression have described associations between white matter variability and depressive symptoms, but frequently exclude participants with medical comorbidities and thus cannot be extrapolated to people with intracranial diseases. White matter lesions are a key pathologic feature of MS and could disrupt pathways involved in depression symptoms. The purpose of this study is to investigate the impact of brain network disruption on depression using MS as a model. We will obtain structured clinical and cognitive assessments from two hundred fifty participants with MS and prospectively evaluate white matter lesion burden as a predictor of depressive symptoms. Ethics approval was obtained from The University of Pennsylvania Institutional Review Board (Protocol #853883). The results of this study will be presented at scientific meetings and conferences and published in peer-reviewed journals.ARTICLE SUMMARYStrengths and Limitations of this StudyWe will use MS as a model to study how white matter disease contributes to both the pathophysiology of depression in MS and to general network mechanisms of depression.We will leverage research-grade 3-tesla (3T) MRIs acquired as part of routine MS care and maximize scalability by using the Method for Inter-Modal Segmentation Analysis (MIMoSA) for automated white matter lesion segmentation.Our study will include participants with medical comorbidities, creating a more representative population and more broadly applicable results.We will obtain detailed clinical and cognitive assessments from each participant to evaluate the inter-relationship of mood symptoms, anxiety symptoms, and cognitive deficits, and relate them to white matter disease.This is a single-center study.
Medical Risk Factors Associated with Listening Difficulties in Children
Authors: Moore David R. , Vesole Adam S. , Lin Li , Caldwell-Kurtzman Jody , Hunter Lisa L. 
Published: October 2024

abstractOBJECTIVESListening difficulty refers to difficulty hearing speech despite normal pure-tone audiometry. It is as prevalent as clinical hearing loss among adults, but incidence, causes and treatment remain poorly understood in children. We hypothesized that four medical risk factors would be associated with listening difficulty in children.METHODSA prospective, case-control study was conducted in a tertiary care children’s hospital. Children (6-13 years old) with clinically normal hearing divided into listening difficulty (n=68) and typically developing (n=84) groups based on a validated caregiver report. All children were native English users without reported conditions restricting participation. Testing included extended high frequency (EHF) audiometry, speech and spatial perception, and cognitive function. Caregiver reports, electronic medical records, and testing ascertained risk of prematurity, head injury, otitis media and EHF hearing loss. Logistic regression, chi-square, correlation, and odds ratios determined associations of listening difficulty with risk factors.RESULTSPrevalence and risk of prematurity (18%, OR 3.39 [95% CI, 1.1-10.2]), head injury (21%, 3.37 [1.2-9.3]), and high frequency hearing loss (32%, 2.42 [1.1-5.5]) were significantly greater for children with listening difficulty than typically developing children. Ventilation tubes were no more common in the listening difficulty group (25%, 1.14 [0.5-2.4]). EHF hearing loss was associated with prematurity and tubes. Prematurity, tubes, and EHF loss were significantly related to poorer competing speech perception and dichotic listening.CONCLUSIONSChildren with a history of prematurity, head injury or EHF loss were at increased risk of listening difficulties. Early intervention to boost communication skills could potentially improve poorer long-term outcomes.
Evaluating generative artificial intelligence’s limitations in health policy identification and interpretation
Authors: Wilson Rory , Weets Ciara M. , Rosner Amanda , Katz Rebecca 
Published: October 2024

AbstractPolicy epidemiology utilizes human subject-matter experts (SMEs) to systematically surface, analyze, and categorize legally-enforceable policies. The Analysis and Mapping of Policies for Emerging Infectious Diseases project systematically collects and assesses health-related policies from all United Nations Member States. The recent proliferation of generative artificial intelligence (GAI) tools powered by large language models have led to suggestions that such technologies be incorporated into our project and similar research efforts to decrease the human resources required. To test the accuracy and precision of GAI in identifying and interpreting health policies, we designed a study to systematically assess the responses produced by a GAI tool versus those produced by a SME.We used two validated policy datasets, on emergency and childhood vaccination policy and quarantine and isolation policy in each United Nations Member State. We found that the SME and GAI tool were concordant 78.09% and 67.01% of the time respectively. It also significantly hastened the data collection processes.However, our analysis of non-concordant results revealed systematic inaccuracies and imprecision across different World Health Organization regions. Regarding vaccination, over 50% of countries in the African, Southeast Asian, and Eastern Mediterranean regions were inaccurately represented in GAI responses. This trend was similar for quarantine and isolation, with the African and Eastern Mediterranean regions least concordant. Furthermore, GAI responses only provided laws or information missed by the SME 2.14% and 2.48% of the time for the vaccination dataset and for the quarantine and isolation dataset, respectively. Notably, the GAI was least concordant with the SME when tasked with policy interpretation.These results suggest that GAI tools require further development to accurately identify policies across diverse global regions and interpret context-specific information. However, we found that GAI is a useful tool for quality assurance and quality control processes in health policy identification.
Co-expression-wide association studies link genetically regulated interactions with complex traits
Authors: Malakhov Mykhaylo M. , Pan Wei 
Published: October 2024

AbstractTranscriptome- and proteome-wide association studies (TWAS/PWAS) have proven successful in prioritizing genes and proteins whose genetically regulated expression modulates disease risk, but they ignore potential co-expression and interaction effects. To address this limitation, we introduce the co-expression-wide association study (COWAS) method, which can identify pairs of genes or proteins whose genetically regulated co-expression is associated with complex traits. COWAS first trains models to predict expression and co-expression conditional on genetic variation, and then tests for association between imputed co-expression and the trait of interest while also accounting for direct effects from each exposure. We applied our method to plasma proteomic concentrations from the UK Biobank, identifying dozens of interacting protein pairs associated with cholesterol levels, Alzheimer’s disease, and Parkinson’s disease. Notably, our results demonstrate that co-expression between proteins may affect complex traits even if neither protein is detected to influence the trait when considered on its own. We also show how COWAS can help disentangle direct and interaction effects, providing a richer picture of the molecular networks that mediate genetic effects on disease outcomes.
Noninvasive Optical Monitoring of Cerebral Hemodynamics Immediately after Birth in Neonates with Congenital Heart Disease
Authors: Winston Chloe N. , Bowe Madison E. , Lee Sura , Ranieri Nicolina R. , Ades Anne , Gebb Juliana , Rychik Jack , Naim Maryam Y. , Bostwick Anna , Forti Rodrigo M. , Ko Tiffany S , Foglia Elizabeth E. , Baker Wesley B. , Lynch Jennifer M. 
Published: October 2024

AbstractObjectiveCritical congenital heart disease (CHD) is associated with neuropsychiatric impairment that may stem from altered cerebral hemodynamics. While cerebral hemodynamics are shown to differ in neonates with CHD, the effect of CHD on cerebral physiology earlier in life during the fetal to neonatal transition period is yet to be elucidated. This period of neonatal resuscitation could represent an opportunity for intervention in critical CHD, so we aimed to characterize cerebral physiology immediately after birth in neonates with critical CHD using noninvasive optical monitoring.MethodsThis case series analysis included term neonates with hypoplastic left heart syndrome (HLHS; n=2) and with transposition of the great arteries (TGA; n=2) who were born at Children’s Hospital of Philadelphia. Continuous measurements of cerebral hemodynamics were acquired during the first hour after birth with novel non-invasive frequency-domain diffuse optical spectroscopy (FD-DOS) and diffuse correlation spectroscopy (DCS), as well as commercial near-infrared spectroscopy (NIRS). NIRS measures cerebral oxygenation, and the combined FD-DOS/DCS device measures cerebral oxygenation, blood flow, and metabolism.ResultsIn all four patients, cerebral oxygen saturation was lower than reference values in the literature. Additionally, we observed decreases in cerebral blood flow and oxygen metabolism during postnatal transition that were not reflected by peripheral oxygen saturation. The decreases were spontaneous in infants with HLHS and temporally associated with invasive respiratory support in infants with TGA.ConclusionThis study demonstrates periods of neurological vulnerability during postnatal transition in CHD and motivates further research on the use of noninvasive optical monitoring during neonatal resuscitation.Clinical PerspectiveWhat is New?An advanced noninvasive hybrid FD-DOS/DCS system detects periods of neurological vulnerability during neonatal resuscitation in patients with critical CHD that are not reflected by peripheral oxygen saturation trends.Invasive respiratory support is associated with cerebral desaturations.What Are the Clinical Implications?These findings suggest the utility of noninvasive cerebral monitoring during neonatal resuscitation in neonates with critical CHD and motivate further studies to assess this.
Unravelling the Impact of Tumor Location on Patient Survival in Glioblastoma: A Genomics and Radiomics Approach
Authors: Kundal Kavita , Kumar Neeraj , Kumar Rahul 
Published: October 2024

AbstractGlioblastoma (GBM), the most aggressive form of brain tumor, has a median survival rate of 12-15 months. Understanding the relationship between genetics and tumor location, as well as identifying non-invasive biomarkers, is crucial for improving treatment strategies and survival outcomes in GBM. In this study, we investigated the impact of tumor location on survival outcome of GBM patients along with genetic factors that influence tumor behaviour in different brain regions. Interestingly, we found that patients with parietal lobe tumors had significantly poor survival outcome compared to those with tumors in other brain regions, particularly the frontal lobe. In a comprehensive genomic analysis, we identified genetic factors, seemingly contributing to the poor survival outcomes in parietal lobe patients. We found the enrichment ofPTENloss-of-function mutations in parietal lobe tumors and interestingly these mutations are known to be associated with chemoresistance and poor patient survival. We also found two fusion genes i.e.,FGFR3-TACC3andEGFR-SEPT14, exclusively in parietal lobe tumors, which are known to play crucial roles in tumorigenesis. Differential gene expression analysis revealed the upregulation of genes likePITX2, HOXB13, andDTHD1, which could be responsible for tumor progression in parietal lobe tumors. Conversely, the downregulation ofALOX15increased relapse risk. Copy number alterations, such as deletions in tumor suppressor gene (LINC00290), were linked to the aggressive nature of parietal lobe tumors. Radiomic analysis revealed two key features, lowerLLL_GLDM_DependanceEntropyand higherHLL_firstorder_Mean, both of which show a significant correlation with increased risk and poorer survival outcome. These findings suggest the potential for targeted therapies and personalized treatments based on tumor location, genetic profile, and radiomic markers. We anticipate that as the size of the datasets will increase for radiogenomics based studies, it will further strengthen these findings and our understanding of molecular drivers for GBM progression, treatment resistance and survival outcome.
Serum proteomics reveals high-affinity and convergent antibodies by tracking SARS-CoV2 hybrid immunity to emerging variants of concern
Authors: Patel Anand , Lima Thiago , Carson Richard , Huang Qiulong , Bonissone Stefano R. , Castellana Natalie 
Published: October 2024

AbstractThe rapid spread of SARS-CoV2 and continuing impact on human health has prompted the need for effective and rapid development of monoclonal antibody therapeutics. In this study, we interrogate polyclonal antibodies in serum and B cells from whole blood of three donors with SARS-CoV2 immunity to find high-affinity anti-SARS-CoV2 antibodies to escape variants. Serum IgG antibodies were selected by affinity to the receptor-binding domain (RBD) and non-RBD sites on the spike protein of Omicron subvariant B.1.1.529 from each donor. Antibodies were analyzed by bottom-up mass spectrometry, and matched to single- and bulk-cell sequenced repertoires for each donor. Antibodies observed in serum were recombinantly expressed, and characterized to assess domain binding, cross-reactivity between different variants, and capacity to inhibit RBD binding to host protein. Donors infected with early Omicron subvariants had serum antibodies with subnanomolar affinity to RBD that show binding activity to a newer Omicron subvariant BQ.1.1. The donors also showed a convergent immune response. Serum antibodies and other single- and bulk-cell sequences were similar to publicly reported anti-SARS-CoV-2 antibodies, and characterized serum antibodies had the same variant-binding and neutralization profiles as their reported public sequence. The serum antibodies analyzed were a subset of anti-SARS-CoV2 antibodies in the B cell repertoire, which demonstrates significant dynamics between the B cells and circulating antibodies in peripheral blood.
Non-Invasive Systemic Blood Pressure Measurement Wait Period Error Mitigation
Authors: McMahon Seán , Morrow Paul 
Published: October 2024

AbstractWorld Health Organisation blood pressure measurement guidelines stipulate that a patient should be seated, back straight and legs uncrossed, for five minutes prior to blood pressure measurement. A study shows that in the majority of cases, the wait period is disregarded by the physician and consequently, the patient may be exposed to the risk of missed diagnosis or misdiagnosis. Modern oscillometric blood pressure measurement devices do not enforce a wait period or monitor patients to gauge their readiness for a measurement. This study investigates whether the electrocardiogram (ECG) or photoplethysmography (PPG) data of a patient could be used as a determinant of readiness for blood pressure measurement. The results indicate that the standard deviation of the interpeak difference of a patient’s ECG bio-signal could be used as a trigger for blood pressure measurement. In this single participant study, the wait period could be reduced from five minutes to 35 seconds. A follow up clinical investigation is recommended to validate the result on broader populations and a list of improvements are provided for such a follow up investigation.
Investigating the Prevalence and Risk Determinants of Ovarian Cancer in Women from Bauchi State North-East, Nigeria
Authors: Jibril Murtala Muhammad , Baffah Maryam Dalhatu , Mohammed Mohammed Bello 
Published: October 2024

AbstractOvarian cancer posed a significant health challenge, particularly in low-resource settings where late diagnosis and limited healthcare access contribute to high mortality rates. This cross- sectional study assessed the prevalence and risk factors for ovarian cancer among women attending General Hospital Azare, North-eastern Nigeria. Data were collected from women of reproductive age 18 and above through structured questionnaires and medical records. The study found an ovarian cancer prevalence of 7.2%, with key risk factors including family history of cancer (17.5%), early menarche, and nulliparity (66%). Despite access to healthcare, only 11.3% of participants had undergone ovarian cancer screening, and 58.8% lacked adequate knowledge of its risk factors. Urban residence (80.4%) and student status (71.1%) were linked to better healthcare access, but a significant gap in awareness persisted. Family history had the strongest association with ovarian cancer (Chi-square = 24.621, p < 0.001), although a counterintuitive negative coefficient suggested the need for further investigation. Alcohol consumption (Chi- square = 27.086, p < 0.001) and hormonal contraceptive use (Chi-square = 12.855, p = 0.0016) were also significantly associated with increased risk. Smoking (Chi-square = 8.57, p = 0.0034) further elevated the risk, while physical activity indicated no significant association. These findings highlighted the need for public health interventions, including education, awareness programs, and improved access to diagnostic services. Efforts to promote early detection and address healthcare disparities are crucial in reducing ovarian cancer risks in this population.