bluuebunny/crossref_metadata_2025_split huggingface dataset:
Irritable bowel syndrome and erectile dysfunction in medical students at a Peruvian university: an analytical cross-sectional analysis
Authors: Valladares-Garrido Mario J , Zapata-Castro Luis E , Quiroga-Castañeda Pedro P , Berrios-Villegas Iván , Vera-Ponce Víctor J , León-Figueroa Darwin A , Pereira-Victorio César J , Valladares-Garrido Danai 
Published: May 2024

AbstractBackgroundThere is inconclusive evidence regarding the role of irritable bowel syndrome (IBS) in the development of erectile dysfunction (ED), especially among medical students due to high academic stress.AimTo determine the association between IBS and ED in medical students from a Peruvian university in 2022.MethodsAn analytical cross-sectional study was conducted with secondary data analysis on 133 medical students from a university in northern Peru during the 2021-II academic semester. The dependent variable was ED as measured with the 5-item International Index of Erectile Function, and the exposure variable was IBS as assessed with the Rome IV–Bristol questionnaire.OutcomesThe results were the prevalence rates of IBS and ED and the association of these variables.ResultsOf the 133 medical students surveyed, the median age was 22 years (IQR, 19-24). The median score on the 5-item International Index of Erectile Function was 21 (IQR, 10-24). The prevalence of ED was 38.4% (95% CI, 30.05%-47.17%). Among the medical students 3% and 9% displayed moderate and severe ED, respectively, and 24.8%, 13.5%, and 24.1% showed moderate depressive, anxious, and severe symptoms. An overall 10.5% had IBS. Medical students with IBS had a 108% higher prevalence of ED than those without the syndrome (prevalence ratio, 2.08; 95% CI, 1.06-4.06). Other confounding variables were not significantly associated (P &gt; .05).Clinical ImplicationsThe results underline the importance of comprehensive sexual and mental health assessment, with an emphasis on the relationship between IBS and ED in medical students.Strengths and LimitationsStrengths include the use of validated and reliable instruments and rigorous biostatistical methods, and this is the first Peruvian investigation to explain the association between IBS and ED in medical students. Limitations include the cross-sectional design and nonprobability sampling, and there may be bias in applying the instruments.ConclusionThis study reveals a significant association between IBS and a higher prevalence of ED in these students.
Application of the Delphi method to the development of common data elements for social drivers of health: A systematic scoping review
Authors: Levites Strekalova Yulia A , Nelson July D , Weber Haley M , Wang Xiangren , Midence Sara M 
Published: May 2024

Abstract
Collaborative data science requires standardized, harmonized, interoperable, and ethically sourced data. Developing an agreed-upon set of elements requires capturing different perspectives on the importance and feasibility of the data elements through a consensus development approach. This study reports on the systematic scoping review of literature that examined the inclusion of diverse stakeholder groups and sources of social drivers of health variables in consensus-based common data element (CDE) sets. This systematic scoping review included sources from PubMed, Embase, CINAHL, WoS MEDLINE, and PsycINFO databases. Extracted data included the stakeholder groups engaged in the Delphi process, sources of CDE sets, and inclusion of social drivers data across 11 individual and 6 social domains. Of the 384 studies matching the search string, 22 were included in the final review. All studies involved experts with healthcare expertise directly relevant to the developed CDE set, and only six (27%) studies engaged health consumers. Literature reviews and expert input were the most frequent sources of CDE sets. Seven studies (32%) did not report the inclusion of any demographic variables in the CDE sets, and each demographic SDoH domain was included in at least one study with age and sex assigned at birth included in all studies, and social driver domains included only in four studies (18%). The Delphi technique engages diverse expert groups around the development of SDoH data elements. Future studies can benefit by involving health consumers as experts.
Biographies of uncertainty regulation in the labor market and extension of working life in Chile
Authors: Cabib Ignacio , Yopo Díaz Martina , Biehl Andrés , Cereceda Trinidad , Ormeño Juan Pablo , Ortiz Francisca 
Published: May 2024

Abstract
Despite lacking policies targeting the extension of working life, Chile is the Latin American country that has exhibited the largest increase in the labor force participation rate of people aged 65+ in the last two decades. In this research, following an analytical framework on regulation of endogenous uncertainty and relying on rich qualitative data (life story interviews of 90 older workers aged 60–86, across 21 cities and 6 regions), we approached the complexity of extended working lives in Chile by addressing an unexplored dimension. Specifically, we explore individuals’ agency over their employment trajectories (i.e., both in adulthood and old age) among those who remained active in the labor market after the legal retirement age. Our findings provide strong evidence that extended working lives not only result from precarious social conditions, but are also shaped by complex processes involving both expansive and adaptive individual agency in which people engaged throughout their life course. Therefore, the high exogenous uncertainty in the labor market should not merely be interpreted from the perspective of “precarity,” but also as a scenario that encouraged individuals to behave in a way that led them to engage in the labor force across their lives in accordance with their preferred level of endogenous uncertainty.
False-Negative 68Ga-FAPI PET/CT in Pediatric Thyroid Medullary Carcinoma Seen With 68Ga-DOTATOC PET/CT and 18F-FDG PET/CT
Authors: Haidar Mohamad B. , Abou Zeid Farah A. , Meguerian Zarouhie Z. , Al-Ibraheem Akram N. , Noun Peter E. 
Published: May 2024

Abstract
In adults, 68Ga-FAP inhibitor (68Ga-FAPI) PET/CT outperforms 68Ga-radiolabeled somatostatin analog peptides (68Ga PET/CT) and 18F-FDG PET/CT in detecting thyroid lesions. This is the case of a 13-year-old boy newly diagnosed with medullary thyroid cancer with high calcitonin level. 68Ga PET/CT revealed the presence of only a primary thyroid lesion. Proven to be superior in detecting metastasis, 68Ga-FAPI PET/CT was performed. The results came out negative for primary and potential metastatic lesions. This case sheds shed light on false-negatives reported in 68Ga-FAPI PET/CT scans in pediatric patients, emphasizing the need for alternate radiotracers when a negative study is met.
Prognostic Risks for Tracheostomy in Pierre Robin Sequence
Authors: Chaisrisawadisuk Sarut , Lauvalert Aekachai , Vathanophas Vannipa , Kongchu Nachasa , Vongviriyangkoon Tara 
Published: May 2024

Background
Pierre Robin sequence (PRS), characterized by micrognathia, glossoptosis, cleft palate, and obstructed airways, is one of the craniofacial conditions challenging various approaches to managing compromised airways, ranging from conservative measures to invasive airway surgery. This study was conducted to identify predictive risk factors for tracheostomy in the PRS.

Methods
A retrospective chart review was conducted at a tertiary referral hospital in Thailand. Children diagnosed with PRS from January 2010 to December 2021 were enrolled. Univariate and multivariate analysis methods were used to identify the risk factors.

Results
Sixty-five patients with PRS were identified in electronic medical records, but 6 were excluded. Thirteen of the remaining 59 patients underwent tracheostomy. There were no significant differences in sex, preterm gestational age, cleft palate, associated syndromes, chromosome abnormalities, or cardiac or neurological involvement between patients who received tracheostomy and those who did not. However, patients with oropharyngeal dysfunction who received tracheostomy tended to use a nasogastric tube or percutaneous gastrostomy 92.3% of the time (P = 0.043). In addition, patients with abnormal airways from endoscopy were more likely to undergo tracheostomy (odds ratio, 2.17; 95% confidence interval [CI], 1.20–3.90). Interestingly, patients with a sum of Apgar scores at 1 and 5 minutes <15 were more likely to undergo tracheostomy (adjusted odds ratio, 9.91; 95% CI, 1.32–74.52). Furthermore, patients with at least 3 identified comorbidities were more likely to undergo tracheostomy (adjusted odds ratio, 11.34; 95% CI, 1.16–111.15).

Conclusions
The need for tracheostomy depends on comorbidities, Apgar scores, and abnormal airway anatomy. Feeding methods can become more complex with tracheostomy. Prognostic risk factors can help guide treatment and counseling for health care workers and caregivers.
The Effects of vibrotactile stimulation of the upper extremity on sensation and perception
Authors: Abdel Khaleq Abeer , More Yash , Skaufel Brody , Al Borno Mazen 
Published: May 2024

AbstractVibrotactile stimulation has applications in a variety of fields, including medicine, virtual reality, and human-computer interaction. Eccentric Rotating Mass (ERM) vibrating motors are widely used in wearable haptic devices for their small size, low cost, and low energy features. The effect of ERM motor vibrations on upper extremity sensation and perception have not been thoroughly studied previously, which is important to design better wearable haptic devices. We conducted experiments with vibrotactile stimulation on 15 healthy participants. Eight motors were placed on a consistent set of muscles on the upper extremity and one motor was placed on the index finger. We found a significant correlation between voltage and sensation intensity (r=0.39). However, we did not find a significant aggregate-level correlation on the perceived pleasantness of the simulation. The sensation intensity varied based on the location of the vibration on the upper extremity (with the lowest intensity on the triceps brachii and brachialis) and slightly decreased (5.9 ± 2.9 %) when participants performed reaching movements. When a single motor was vibrating, the participants’ accuracy at identifying the motor without visual feedback increased as voltage increased, reaching up to 81.4 ± 14.2 %. When we stimulated three muscles simultaneously, we found that most participants were able to identify only two out of three vibrating motors (41.7 ± 32.3 %). Our findings can help tune stimulation parameters in human- machine interaction applications.
A Decade in a Systematic Review: The Evolution and Impact of Cell Painting
Authors: Seal Srijit , Trapotsi Maria-Anna , Spjuth Ola , Singh Shantanu , Carreras-Puigvert Jordi , Greene Nigel , Bender Andreas , Carpenter Anne E. 
Published: May 2024

ABSTRACTHigh-content image-based assays have fueled significant discoveries in the life sciences in the past decade (2013-2023), including novel insights into disease etiology, mechanism of action, new therapeutics, and toxicology predictions. Here, we systematically review the substantial methodological advancements and applications of Cell Painting. Advancements include improvements in the Cell Painting protocol, assay adaptations for different types of perturbations and applications, and improved methodologies for feature extraction, quality control, and batch effect correction. Moreover, machine learning methods recently surpassed classical approaches in their ability to extract biologically useful information from Cell Painting images. Cell Painting data have been used alone or in combination with other - omics data to decipher the mechanism of action of a compound, its toxicity profile, and many other biological effects. Overall, key methodological advances have expanded Cell Painting’s ability to capture cellular responses to various perturbations. Future advances will likely lie in advancing computational and experimental techniques, developing new publicly available datasets, and integrating them with other high-content data types.
Bilirubin is a new ligand for nuclear receptor Liver Receptor Homolog-1
Authors: Chapagain Pratima , Haratipour Zeinab , Malabanan M. Merced , Choi Woong Jae , Blind Raymond D. 
Published: May 2024

SummaryThe nuclear receptor Liver Receptor Homolog-1 (LRH-1,NR5A2) binds to phospholipids that regulate important LRH-1 functions in the liver. A recent compound screen unexpectedly identified bilirubin, the product of liver heme metabolism, as a possible ligand for LRH-1. Here, we show unconjugated bilirubin directly binds LRH-1 with apparentKd=9.3uM, altering LRH-1 interaction with all transcriptional coregulator peptides tested. Bilirubin decreased LRH-1 protease sensitivity, consistent with MD simulations predicting bilirubin stably binds LRH-1 within the canonical ligand binding site. Bilirubin activated a luciferase reporter specific for LRH-1, dependent on co-expression with the bilirubin membrane transporterSLCO1B1, but bilirubin failed to activate ligand-binding genetic mutants of LRH-1. Gene profiling in HepG2 cells shows bilirubin selectively regulated transcripts from endogenous LRH-1 ChIP-seq target genes, which was significantly attenuated by either genetic knockdown of LRH-1, or by a specific chemical competitor of LRH-1. Gene set enrichment suggests bilirubin and LRH-1 share roles in cholesterol metabolism and lipid efflux, thus we propose a new role for LRH-1 in directly sensing intracellular levels of bilirubin.
Type-I interferons drive the gastrointestinal inflammatory response in a mouse model of Parkinson’s disease
Authors: Waters Harrison , Chen Shuyan , Vincan Elizabeth , Flanagan Dustin J. , Schwab Renate H.M. , Crack Peter J. , Taylor Juliet M. 
Published: May 2024

AbstractBackground and AimsParkinson’s disease (PD) is an age-related neurodegenerative disorder characterised by classical motor symptoms due to a loss of dopaminergic neurons in the substantia nigra pars compacta. The type-I interferons (IFNs) are elevated in the aging brain and we have implicated them in the neuroinflammatory response in PD. With increasing evidence of gastrointestinal (GI) dysfunction in PD patients, this study explored the contribution of the type-I IFNs to the transmission of pathology from the brain to the gut in PD.MethodsYoung (10-12 weeks) and aged (40-50 weeks) wildtype and IFNAR1−/−mice received an intrastriatal injection of human alpha-synuclein (α-Syn) pre-formed fibrils (PFF) (8ug) with gut tissue analysed 6-months post-injection (p.i). A mouse intestinal organoid culture model was established to further characterise the α-Syn induced inflammatory response in the gut.ResultsAn intrastriatal injection of human α-Syn PFFs was shown to initiate a type-I IFN-dependent neuroinflammatory response in the GI tract of wildtype mice at 6-months p.i. This response was attributed to an elevation in type-I IFN signalling in aged mice that was absent in the IFNAR1−/−mice. Mouse intestinal organoid cultures confirmed α-Syn was taken up by the enteroendocrine cells (EECs) to induce a type-I IFN mediated pro-inflammatory response that was attenuated in IFNAR1−/−cultures.ConclusionThis study has confirmed the type-I IFNs modulate the α-Syn PFF induced inflammatory response within the gut potentiating pathology progression along the gut-brain axis. Early intervention of this type-I IFN response may be a potential therapeutic target to limit the progression of PD.
Chromatin protein complexes involved in gene repression in lamina-associated domains
Authors: Manzo Stefano G , Mazouzi Abdelghani , Leemans Christ , van Schaik Tom , Neyazi Nadia , van Ruiten Marjon S , Rowland Benjamin D , Brummelkamp Thijn , van Steensel Bas 
Published: May 2024

ABSTRACTLamina-associated domains (LADs) are large chromatin regions that are associated with the nuclear lamina (NL) and form a repressive environment for transcription. The molecular players that mediate gene repression in LADs are currently unknown. Here we performed FACS-based whole-genome genetic screens in human cells using LAD-integrated fluorescent reporters to identify such regulators. Surprisingly, the screen identified very few NL proteins, but revealed roles for dozens of known chromatin regulators. Among these are the negative elongation factor (NELF) complex and interacting factors involved in RNA polymerase pausing, suggesting that regulation of transcription elongation is a mechanism to repress transcription in LADs. Furthermore, the chromatin remodeler complex BAF and the activation complex Mediator can work both as activators and repressors in LADs, depending on the local context and possibly rewiring of heterochromatin. Our data clearly emphasize that the fundamental regulatory steps of the transcription process and chromatin remodeling factors, rather than interaction with NL proteins, play a major role in the regulation of transcription within LADs.HIGHLIGHTSHaploid genetic screens identify proteins that control gene activity in LADsChromatin proteins rather than NL proteins control repression in LADsRegulators of elongation contribute to repression of transcription in LADsBAF and Mediator can both repress and activate transcription in LADs
Association of mid-age Life’s Essential 8 score with digital cognitive performance and incident Alzheimer’s disease: the Framingham Heart Study
Authors: Yang Jian , Ding Huitong , Li Yi , Ang Ting Fang Alvin , Devine Sherral , Liu Yulin , Qiu Wendy , Au Rhoda , Ma Jiantao , Liu Chunyu 
Published: May 2024

ABSTRACTBackgroundEmerging studies indicate that cardiovascular health (CVH) is a modifiable risk factor for AD. However, studies on how mid-life Life’s Essential 8 (LE8) scores affect the AD risk and digital cognitive performance are limited.ObjectiveTo examine the associations between CVH in middle age, as defined by LE8 scores, and subsequent digital cognitive performance and incident AD.MethodsLinear regression and Cox proportional-hazard models were used to examine the associations of mid-age CVH with dCDT performance and incident AD, respectively. Prediction performance of mid-age LE8 scores for incident AD were assessed using ROC curve analysis.ResultsEvery one-SD increase in mid-age LE8 total score was associated with a 0.16-SD increase in dCDT total score (p < 0.001). Ideal CVH in middle age was associated with higher dCDT scores compared to intermediate CVH. Furthermore, higher mid-age LE8 scores were associated to a decreased risk of AD, with ideal CVH significantly lowering AD risk compared to intermediate CVH. The combination of dCDT performance, mid-age LE8 scores, APOE ε4 status, and other covariates provided the best prediction performance for incident AD, with an AUC of 0.84. Notably, mid-life LE8 scores improved its predictive accuracy by 5.7%.ConclusionOur findings emphasize the critical role of CVH in middle age as a predictor of both digital cognitive performance and the risk of developing AD, highlighting the importance of early intervention on CVH to delay the progression of cognitive decline.
Mitral Annular Disjunction in Heritable Thoracic Aortic Disease: Insights From the Montalcino Aortic Consortium
Authors: Asokan Kishan L. , Landes Jennifer R. , Renders Wannes , Muiño Mosquera Laura , De Backer Julie , Jantzen David W , Yetman Anji T. , Teixido-Tura Gisela , Evangelista Arturo , Jeremy Richmond , Jones Edward G. , Morris Shaine , Doan Tam , Ouzonian Maral , Braverman Alan , Jondeau Guillaume , Milleron Olivier , Prakash Siddharth K. , Milewicz Dianna M. 
Published: May 2024

AbstractBackgroundMitral annular disjunction (MAD), posterior displacement of the mitral valve leaflet hinge point, predisposes to arrhythmias or sudden cardiac death. We evaluated the burden of MAD, mitral valve prolapse (MVP), and mitral regurgitation (MR) by heritable thoracic aortic disease (HTAD) gene in a cross-sectional analysis of 2014-2023 data in the Montalcino Aortic Consortium (MAC) registry.MethodsMAD was determined by direct measurement of echocardiographic images. MR and MVP were defined according to current clinical guidelines. Associations were evaluated using chi-squared or Fisher exact tests.ResultsMR and MVP were enriched in MAC participants (672) with pathogenic variants (PV) in TGF-β pathway genes. The combination of MR and MVP was associated with mitral surgery and arrhythmias. In the subgroup with available images, MAD was enriched inSMAD3PV compared to other TGF-β PV (PR 1.8 [1.1-2.8],P< 0.02). Severe disjunction (>10 mm) was only observed in the TGF-β subgroup and was further enriched in participants withSMAD3PV (PR 3.1 [1.1-8.6]). MVP (PR 5.2 [3.0-9.0]) and MR (PR 2.7 [1.8-3.9) were increased in participants with MAD, but MAD was not independently associated with adverse cardiac or aortic events.ConclusionsMitral phenotypes are more prevalent in individuals with PV in TGF-β pathway genes, particularlySMAD3, and are associated with adverse aortic and cardiac events. Because congenital mitral disease may be the primary presenting feature of SMAD3 PV, genetic testing for HTAD should be considered for such individuals, especially if they also have a family history of HTAD.Clinical/Research PerspectiveWhat Is New?1)Mitral regurgitation, mitral valve prolapse, and mitral annular disjunction (MAD) are common in heritable thoracic aortic disease (HTAD) caused by pathogenic variants (PV) in TGF-β pathway genes (SMAD3,TGFBR1,TGFBR2,TGFB2, orTGFB3) and are associated with adverse cardiac events.2)Pathological mitral phenotypes are particularly prominent in people withSMAD3PV and may be the presenting feature of HTAD in some cases.What Are the Clinical Implications?3)Pathological mitral valve phenotypes may identify a high-risk subgroup of HTAD cases with more frequent adverse cardiovascular events. Because congenital mitral disease may be the primary presenting feature ofSMAD3PV, genetic testing for HTAD should be considered for such individuals, especially if they also have a family history of HTAD.