bluuebunny/crossref_metadata_2025_split huggingface dataset:
Meningiomas in Rubinstein-Taybi syndrome: A case report and comprehensive review
Authors: Chen Andrea , Hart Shannon Louise , Lannon Melissa , Hawkins Cynthia , Reddy Kesava K V , Lu Jian-Qiang 
Published: December 2024

Abstract
Rubinstein-Taybi syndrome (RTS) is a congenital disorder with characteristic clinical manifestations. In the vast majority of cases, it is caused by mutations of the gene encoding the transcriptional co-activator cAMP-response element binding protein (CBP)-binding protein (CREBBP). It has been thought to be a tumor predisposition syndrome as RTS patients have an increased risk of developing tumors including meningiomas. However, RTS-associated meningiomas are rarely reported. We report a unique RTS-associated meningioma in which an oncogenic CREBBP mutation is identified. We also comprehensively review the reported RTS-associated meningiomas, from epidemiology and pathogenesis to clinicopathological characteristics and treatment. All RTS patients with meningiomas are female and have the exclusive mutations of CREBBP. In population-based studies RTS-associated meningiomas seem to develop at younger ages. Their pathogenesis may be driven by the CREBBP/CBP alterations resulting in aberrant signal transduction in the CBP-mediated signaling pathways. Meningiomas in RTS patients have common clinicopathological characteristics including comorbidity with other tumors, radiologically intra-osseous growth, and uncommon histopathology such as ossifying and secretory features. Given the genetic nature and rarity of RTS-associated meningiomas, further investigation of their characteristics may define molecular targets for improved therapeutic options for RTS patients.
Simultaneous bilateral deep femoral artery aneurysms: case report of a rare peripheral arterial aneurysm
Authors: Assefa Rahel Abebayehu , Zeleke Henok T/Silassie , G/Giorgis Dawit 
Published: December 2024

Abstract
Deep femoral artery aneurysms are very rare; particularly when isolated and occur simultaneously in both limbs. We report such a case of a misdiagnosed 16-year-old male presenting after hematoma evacuation was attempted for painful swelling in the left groin. Once the diagnosis was confirmed by computed tomography angiography (CTA), an emergency aneurysmectomy with deep femoral artery (DFA) ligation was performed on the left limb. Subsequently, an elective aneurysmectomy with DFA ligation was done for the contralateral limb during the same admission, with no postoperative complications. Echocardiography, performed with suspicion for infective endocarditis as the cause for possible mycotic aneurysm, revealed Chronic Rheumatic Valvular Heart Disease, without evidence of vegetations, abscesses, or intracardiac thrombi. This case report seeks to discuss the patient’s clinical presentation, CTA findings, and surgical management in a low-resource setting, underscoring the risks of this rare condition if misdiagnosed.
Phylogenomic Insights into the Evolution and Origin of Nematoda
Authors: Qing Xue , Zhang Yuanmeng Miles , Sun Sidi , Ahmed Mohammed , Lo Wen-Sui , Bert Wim , Holovachov Oleksandr , Li Hongmei 
Published: December 2024

Abstract
The phylum Nematoda represents one of the most cosmopolitan and abundant metazoan groups on Earth. In this study, we reconstructed the phylogenomic tree for phylum Nematoda. A total of 60 genomes, belonging to 8 nematode orders, were newly sequenced, providing the first low-coverage genomes for the orders Dorylaimida, Mononchida, Monhysterida, Chromadorida, Triplonchida, and Enoplida. The resulting phylogeny is well-resolved across most clades, with topologies remaining consistent across various reconstruction parameters. The subclass Enoplia is placed as a sister group to the rest of Nematoda, agreeing with previously published phylogenies. While the order Triplonchida is monophyletic, it is not well-supported, and the order Enoplida is paraphyletic. Taxa possessing a stomatostylet form a monophyletic group; however, the superfamily Aphelenchoidea does not constitute a monophyletic clade. The genera Trichinella and Trichuris are inferred to have shared a common ancestor approximately 202 millions of years ago (Ma), a considerably later period than previously suggested. All stomatostylet-bearing nematodes are proposed to have originated ~305 Ma, corresponding to the transition from the Devonian to the Permian period. The genus Thornia is placed outside of Dorylaimina and Nygolaimina, disagreeing with its position in previous studies. In addition, we tested the whole genome amplification method and demonstrated that it is a promising strategy for obtaining sufficient DNA for phylogenomic studies of microscopic eukaryotes. This study significantly expanded the current nematode genome dataset, and the well-resolved phylogeny enhances our understanding of the evolution of Nematoda.
Cold-related Mortality in US State and Private Prisons: A Case–Crossover Analysis
Authors: Skarha Julianne , Spangler Keith , Dosa David , Rich Josiah D. , Savitz David A. , Zanobetti Antonella 
Published: December 2024

Background:
Cold temperatures are associated with increased risk for cardiovascular and respiratory disease mortality. Due to limited temperature regulation in prisons, incarcerated populations may be particularly vulnerable to cold-related mortality.

Methods:
We analyzed mortality data in US prisons from 2001 to 2019. Using a case–crossover approach, we estimated the association of a 10 °F decrease in cold temperature and extreme cold (days below the 10th percentile) with the risk of total mortality and deaths from heart disease, respiratory disease, and suicide. We assessed effect modification by personal, facility, and regional characteristics.

Results:
There were 18,578 deaths during cold months. The majority were male (96%) and housed in a state-operated prison (96%). We found a delayed association with mortality peaking 3 days after and remaining positive until 6 days after cold exposure. A 10 °F decrease in temperature averaged over 6 days was associated with a 5.1% (95% confidence interval [CI]: 2.1%, 8.0%) increase in total mortality. The 10-day cumulative effect of an extreme cold day was associated with an 11% (95% CI: 2.2%, 20%) increase in total mortality and a 55% (95% CI: 11%, 114%) increase in suicides. We found the greatest increase in total mortality for prisons built before 1980, located in the South or West, and operating as a dedicated medical facility.

Conclusions:
Cold temperatures were associated with an increased risk of mortality in prisons, with marked increases in suicides. This study contributes to the growing evidence that the physical environment of prisons affects the health of the incarcerated population.
The Association Between Ambient Particulate Matter Exposure and Anemia in HIV/AIDS Patients
Authors: Liang Wei , Han Aojing , Hou Dong , Li Ruihan , Hu Qilin , Shen Huanfeng , Jin Yalei , Xiang Hao 
Published: December 2024

Background:
Anemia is common among HIV/AIDS patients, impacting prognosis. Particulate matter (PM) exposure is an understudied, potentially modifiable risk factor in this group.

Methods:
We gathered 36,266 hemoglobin (Hb) measurements from 6808 HIV/AIDS patients from the HIV/AIDS Comprehensive Response Information Management System from 1 January 2004 to 31 December 2021. We evaluated the relationship between Hb levels and short-term PM exposure using linear mixed-effects models. We used logistic regression to estimate the association of long-term PM exposure with baseline anemia prevalence and time-varying Cox models to estimate the association of long-term PM exposure with follow-up incidence of anemia. Mediation analysis explored the role of chronic kidney disease (CKD) in the association between PM exposure and anemia.

Results:
For every 5 µg/m³ increase in 28-day average PM1, Hb levels decreased by 0.43 g/l. For a 10 µg/m³ increase in PM2.5, Hb decreased by 0.55 g/l; for the same increase in PM10, Hb decreased by 0.35 g/l. A 5 µg/m³ increase in 1-year average PM1 corresponded to a 7% higher prevalence of anemia at baseline, a 10 µg/m³ increase in PM2.5 to 8% higher prevalence, and a 10 µg/m³ increase in PM10 to 6% higher prevalence. These rises in average PM concentrations during follow-up were associated with increased incident anemia by 54% (PM1), 72% (PM2.5), and 51% (PM10). CKD partially mediated the positive associations between PM exposure and the incidence of anemia.

Conclusion:
PM exposure was associated with lower Hb levels and higher incidence of anemia in HIV/AIDS patients and CKD with mediating estimated effects in PM-induced anemia.
Assessing Trauma and Training Needs of Sexual Assault Nurse Examiners Across the United States
Authors: Dawson Haley R. , Compo Nadja Schreiber , Thomas Tami , Nobrega Juan Lopez 
Published: December 2024

ABSTRACT

Background
Much of the research on sexual assault nurse examiners (SANEs) focuses on program outcomes rather than the individual experiences of SANEs. The present research therefore sought to examine the individual experiences of SANEs regarding trauma, support, training needs, and challenges.

Methods
A national sample of SANEs participated in an online survey. In addition to a series of questions on work-related challenges and training needs, participants also completed the Secondary Traumatic Stress Scale (Bride et al., 2004) and the Professional Quality of Life Scale Stamm, 2009). Written survey responses were analyzed for themes regarding support services and training needs.

Results
One hundred twelve SANEs from 24 U.S. states participated in our survey. Of these, 74 SANEs completed the Secondary Traumatic Stress Scale, and 69 SANEs completed the Professional Quality of Life Scale. Overall, SANEs reported little secondary trauma or burnout. Furthermore, SANEs identified key areas in which additional training would be beneficial, including trial preparation, photography, and hands-on training.

Discussion
Self-reported trauma and burnout findings are discussed in light of the high use of support services such as therapy, decompressing with other SANEs, and leisure activities. Our findings provide valuable information for supervisors and training providers of SANEs and have important implications for future SANE research.
Workday Habits and Fatigue of American Jockeys
Authors: Keener Michaela M. , Vice Gavin C. , Tumlin Kimberly I. , Heebner Nicholas R. 
Published: December 2024

Abstract

Objective
1) Characterize the workday habits of American jockeys, and 2) Evaluate the relationship between workday habits and fatigue through changes in postural stability (balance) across their workday.

Methods
Thirty-seven jockeys participated in pre- and post-race day testing. Jockeys completed questionnaires on workday habits and a two-minute balance test with tri-axial accelerometers on the unstable surface and sacrum.

Results
The median caloric intake during their workday was 263.8 kcal. Wilcoxon-signed rank tests reported no significant changes in balance across the workday. Statistically significant (p < 0.05) correlations existed between sleep (τ = -0.41) and number of races ridden (τ = 0.37) with balance variables.

Conclusions
American jockeys exhibit weight-cycling behaviors, primarily restricted caloric and fluid intake. No changes were evaluated in balance across the workday. Future research should focus on evaluating other fatigue mechanisms involving abdominal muscle fatigue and cognitive fatigue.
Patient-Physician Communication Experience Modifies Racial/Ethnic Health Care Disparities Among Surveillance, Epidemiology, and End Results-Consumer Assessment of Healthcare Providers and Systems Participants With Colorectal Cancer and Multiple Chronic Conditions
Authors: Navarro Stephanie , Le Jessica , Tsui Jennifer , Barzi Afsaneh , Stern Mariana C. , Pickering Trevor , Farias Albert J. 
Published: December 2024

Purpose:
After cancer diagnosis, non-White patients and those with multimorbidity use less primary care and more acute care than non-Hispanic White (NHW) patients and those lacking comorbidities. Yet, positive patient experiences with physician communication (PC) are associated with more appropriate health care use. In a multimorbid cohort, we measured associations between PC experience, race and ethnicity, and health care use following colorectal cancer (CRC) diagnosis.

Participants and Methods:
We identified 2606 participants using Surveillance, Epidemiology, and End Results (SEER)-Consumer Assessment of Health Care Providers and Systems (CAHPS) data who were diagnosed with CRC from 2001 to 2017 with pre-existing chronic conditions. Self-reported PC experiences were derived from Medicare CAHPS surveys. Chronic condition care, emergency department, and hospital use following CRC diagnosis were identified from Medicare claims. Simple survey-weighted multivariable logistic regression stratified by experiences with care analyzed associations between race and ethnicity and health care use.

Results:
Among patients reporting excellent PC experience, non-Hispanic Black (NHB), Hispanic, and non-Hispanic Asian (NHA) patients were more likely to use sufficient chronic condition care than NHW patients (NHB: OR=1.48, 99.38% CI=1.38–1.58; Hispanic: OR=1.34, 99.38% CI=1.26–1.42; NHA: OR=2.31, 99.38% CI=2.12–2.51). NHB and NHA patients were less likely than NHW patients to visit the emergency department when reporting excellent PC experience (NHB: OR=0.66, 99.38% CI=0.63–0.69; NHA: OR=0.67, 99.38% CI=0.64–0.71). Among patients reporting excellent PC, NHB, Hispanic, and NHA patients were less likely than NHW patients to be hospitalized (NHB: OR=0.93, 99.38% CI=0.87–0.99; Hispanic: OR=0.93, 99.38% CI=0.87–0.99; NHA: OR=0.20, 99.38% CI=0.19–0.22).

Conclusion:
Improving patient experiences with PC, particularly among older racial and ethnic minority cancer survivors with chronic conditions, may help reduce disparities in adverse healthcare use following CRC diagnosis.
Threads of Care
Authors: Pradhan Rohit , Ghiasi Akbar , Davlyatov Ganisher , Gupta Shivani , Weech-Maldonado Robert 
Published: December 2024

Objective:
To assess the association of agency nursing staff utilization with nursing home (NH) quality.

Background:
Nursing staff are the primary caregivers in NHs, where high-quality care is contingent upon their adequacy and expertise. Long-standing staffing challenges, exacerbated by the COVID-19 pandemic, have led NHs to rely on agency/contract labor to alleviate staffing shortages.

Methods:
This study used the following secondary datasets: Payroll-Based Journal, Care Compare: 5-Star Quality Rating System, LTCFocus.org, Area Health Resource Files, and Rural-Urban Commuting Area codes for 2017–2022. Multivariable ordinal logistic regression with 2-way (facility and year-level) fixed effects was employed. The study included all Centers for Medicare and Medicaid Services certified U.S. NHs. Analytic data comprised 80,244 facilities, averaging 13,374 unique NHs per year. The study focused on the quality star rating (1–5 scale) from the 5-Star Quality Rating System as the dependent variable. Independent variables included the proportion of agency nursing staff hours per resident day for registered nurses, licensed practical nurses, and certified nursing assistants while controlling for facility and community characteristics that may affect NH quality.

Results:
A 10% increase in agency registered nurses, licensed practical nurses, and certified nursing assistants (logged) was associated with a decrease in the odds of achieving a higher star rating by 4%, 5%, and 4%, respectively (P < 0.001).

Conclusions:
The use of agency nursing staff can negatively impact NH quality. Efforts to better integrate agency nursing staff into NHs, combined with strategies to recruit and retain permanent nursing staff, could lead to improved outcomes for residents.
Insights intoDEPDC5-Related Epilepsy from 586 people: Variant Penetrance, Phenotypic Spectrum, and Treatment Outcomes
Authors: Ochoa-Urrea Manuela , Butler Elizabeth A. , Bruenger Tobias , Leu Costin , Bosselmann Christian M. , Najm Imad , Lhatoo Samden , Lal Dennis 
Published: December 2024

AbstractVariants in the GATOR1 complex geneDEPDC5disrupt mTORC1 pathway regulation, driving cortical malformations and focal epilepsy.DEPDC5is the most common genetic cause of focal epilepsy, often linked to focal cortical dysplasia (FCD). However, reduced penetrance complicates genetic counselling and risk prediction.This study analysed the largestDEPDC5-related epilepsy cohort, synthesising data from 170 families and 586 variant carriers. Epilepsy penetrance was estimated at 64.9% (n=380/586), with median seizure onset at 5 years. By age 10, 76.1% of individuals experienced seizures. Drug resistance occurred in 48.3% (n=101/209) of cases, and cortical malformations were present in 28% (n=49/175) of MRIs. SUDEP accounted for 16% (n=4/25) of deaths among affected individuals.Early seizure onset correlated strongly with drug resistance, intellectual disability, and MRI abnormalities, underscoring its role as a severity marker. Surgical intervention in drug-resistant cases (34.7% [n=35/101]) achieved favourable outcomes (Engel I or II) in 88% (n=29/33) of individuals, with pathology confirming cortical malformations in 92.6% (n=25/27) of those with abnormal MRIs.This study advances the understanding ofDEPDC5-related epilepsy, providing critical insights into penetrance, phenotype, and treatment outcomes to inform precision care and genetic counselling.
Characterizing Tyrosine Ring Flips in Proteins by19F NMR
Authors: Lu Meng , Xu Guohua , Wu Qiong , Liu Xiaoli , Yang Mingjuan , Jiang Ling , Yang Minghui , Liu Maili , Li Conggang 
Published: December 2024

ABSTRACTAromatic ring flip dynamics are essential for elucidating the catalytic mechanism of enzyme, protein binding, and the “breathing” motions of proteins. NMR is the primary method for measuring aromatic ring flip rates in proteins at the residue level, but it typically requires extreme conditions such as high pressure or low temperature to slow down the ring flips to a detectable rate on the NMR time scale. Consequently, ring flip rates have only been measured for a limited number of proteins due to the lack of simple method under mild conditions. Here we report a novel19F NMR method utilizing 2,6-difluoro-tyrosine (2,6-F2Y) substitution to measure the ring flip rate of tyrosine residuesin vitroand in living cells. We validated the effectiveness of method on three proteins, the B1 domain of protein G (GB1), ubiquitin (UBQ) and histidine-containing phosphocarrier protein (HPr). The results demonstrated that this19F NMR approach can quantify the ring flip on timescales from microseconds to seconds under mild experimental conditions. For the first time, we measured the tyrosine ring flip dynamics of HPr in three types of living cells:E. coli, A2780 cells andX. laevisoocytes. Our findings reveal that tyrosine ring flip dynamics are remarkably affected by cellular environment and are cell-type dependent. The strong interactions and the low activation enthalpy are associated with fast ring flipping. Our study provides a simple, convenient and efficient method for characterizing tyrosine ring flip in proteins bothin vitroand in cells, and it also opens a new avenue for measuring the ring flip rates in proteins in complex biological environments.TOC
Data-driven clustering of mental health symptoms and brain functional connectivity signatures in transdiagnostic psychiatric inpatients
Authors: Aruldass Athina R. , Rubbani Shafi , Zhukovsky Peter , Sneider Jennifer T. , Cohen-Gilbert Julia , Osman Abdirahman , Tatham Jocelyn , Chen Joann , Howell Allyna-London , Irujo Carmen , Bronson Lilikoi , Rossvall Annah , Duffy Lucie , Wong Samantha , Layfield Savannah , Rodriguez-Villa Fernando , Gelda Steven , Gelwan Eliot , Leslie Michael , Eisen Jane , Coletti Joseph , Busch Alisa B. , Sugarman Dawn E. , Pizzagalli Diego A. , Yip Agustin , Ressler Kerry J. , Daskalakis Nikolaos P. 
Published: December 2024

ABSTRACTBackgroundPsychiatric disorders are notoriously heterogenous, often rendering diagnostic efforts challenging, and leading to poor therapeutic outcomes. The growing emphasis on ‘transdiagnostic’ approaches in psychiatry aligns well with the National Institute of Health-devised Research Domain Criteria (RDoc) framework that seeks to enable precision psychiatry. Here, we sought to identify transdiagnostic subgroups, which share behavioral and neural abnormalities, in a large population of psychiatric inpatients treated at a tertiary psychiatric hospital.MethodsThe sample included 1,571 patients across five units within the Depression & Anxiety Disorders Division at McLean Hospital who completed self-assessments as part of an ongoing quality-of-care improvement project. Self-assessments included validated measures of depression, anxiety, anhedonia, trauma, personality and substance misuse as well as broader screening questions. First, we identified naturally occurring transdiagnostic subgroups based on the self-reported questionnaires using consensus clustering to implement partition-around-medoids. In a subsample, we ascertained brain functional connectivity differences between the resultant subgroups using a multi-granular approach, i.e. whole-brain to connection-wise.ResultsIn a k=2 partitioning solution, the first transdiagnostic cluster; C1 (N=809) had consistently higher means across all questionnaires compared to the second cluster; C2 (N=762). QIDS total score (P<0.0001, effect size = 0.54) and BASIS-24 derived total score (P<0.0001, effect size = 0.53) showed the largest difference between the groups. In follow-up imaging analysis (N=26) functional connectivity (FC) differences were observed connection-wise (P<0.0001) and between functional networks (P<0.0001), with C1 showing stronger FC than C2. Cluster-by-sex analyses revealed that females had higher BASIS-24 derived depression/functioning (C1|C2; P<0.0001 | P<0.0001), and QIDS (C1|C2; P<0.0001 | P<0.0001) scores compared to males. This was coupled with greater intermodular FC in males than females in C1 (P<0.0001) and C2 (P<0.0005).ConclusionsThese results suggest that inpatients with transdiagnostic symptoms show biobehavioral abnormalities, underpinned by sex differences. Behaviorally, this is a function of acuity, i.e., severity of psychopathological symptoms, and not diagnosis. Biologically, the dysfunction captured here may span across various brain networks, rather than a singular region.