bluuebunny/crossref_metadata_2025_split huggingface dataset:
Electrocardiographic Changes in Pregnant Patients With Congenital Heart Disease
Authors: Pabon Maria A. , Misra Amrit , Gauvreau Kimberlee , Duncan Madeline E. , Conklin Ava , Economy Katherine E. , Wu Fred M. , Tadros Thomas , Valente Anne Marie ,   For the STORCC Investigators
Published: January 2025

ABSTRACTBackgroundElectrocardiograms (EKGs) are routinely performed in pregnant patients with pre‐existing cardiovascular disease. However, in pregnant patients with congenital heart disease (CHD), EKG changes during gestation have not been explored.MethodsWe performed a retrospective study of pregnant patients with CHD enrolled in the STORCC initiative. Patients were included if they had at least two EKGs across the perinatal period and were grouped by specific conditions: atrial septal defect (ASD), tetralogy of Fallot, congenital pulmonary stenosis, coarctation of the aorta (CoA), bicuspid aortic valve (BAV), systemic right ventricle (SRV), and Fontan circulation. EKG parameters were measured in all available EKGs by two investigators, blinded to diagnosis and time of gestation.ResultsOne hundred and seventy pregnant patients were included. There was a statistically significant increase in HR from pre‐pregnancy to third trimester in all groups except for those with Fontan and SRV. Patients with ASD and BAV had a statistically significant increase in their QTc (ASD:13 ms, p = 0.017; BAV:7 ms, p = 0.018) during pregnancy. QRS duration was shorter (4 ms) in the third trimester for patients with ASD (p = 0.033) and CoA (p = 0.014). Despite these individual findings, EKG parameters remained within normal limits and regressed to baseline in the postpartum period.ConclusionsPatients with CHD have statistically significant EKG changes throughout pregnancy, but the values remain within normal limits. Like patients without heart disease, those with CHD increase their HR during pregnancy, except individuals with SRV and Fontan, who appear to lack capacity for physiologic HR augmentation.
Birth weight and prepubertal growth trajectory had a combined effect on pubertal initiation in girls
Authors: Deng Rui , Li Weiqin , Feng Tianshu , Wei Liumei , Li Xingxiu , Leng Junhong , Dong Bin , Sawyer Susan M. 
Published: January 2025

AbstractAimMost studies of prepubertal weight and puberty have not used continuous or long follow‐up periods. We explored the effect that birth weight and growth trajectories from 0–9 years of age had on starting puberty.MethodsData were obtained from 1510 children in Tianjin, China, who were born in 2013 and selected by cluster random sampling. Information on pubertal status was collected by parent‐reported questionnaires and up to 14 anthropometric measurements were obtained from physical examinations. A group‐based trajectory model was applied to fit the growth trajectories. Cox regression and log‐binomial regression were used for association analyses.ResultsAfter exclusions, we studied 1164 children (50.9% girls) up to a mean age of 9.6 years. Girls with a low birth weight or low‐stable growth trajectories were less likely to have started puberty, while those with macrosomia or high‐stable growth trajectories had a higher risk of having started puberty. Combined analyses showed that the risk of pubertal initiation for girls with a normal birth weight and low‐stable trajectories was 0.76. It was 1.42 for those with macrosomia and high‐stable trajectories. Similar results were not found in the boys.ConclusionIt is important that pubertal initiation studies investigate growth over the life course.
Impact of COVID‐19 Pandemic on Children With Intellectual Disabilities and Their Parents: The Perspective of Parents in India
Authors: Gogoi Pariz Pikul , Jha Munmun 
Published: January 2025

ABSTRACTBackgroundThe COVID‐19 pandemic affected children with intellectual disabilities and their parents in numerous ways. This study investigates the impact by analysing the narratives of their parents in the city of Guwahati, located in Assam, a northeastern state of India. The study contributes to the scholarship on intellectual disability in relation to the COVID‐19 pandemic. It suggests the central role of parents and the necessity of empowering them with timely information and disability training, which will help sustain the uninterrupted development of children.MethodsThis study employs a qualitative method with semi‐structured interviews. Twelve parents of children with intellectual disabilities from three special schools participated in this study. The questions explored their lived experiences with their children, caregiving responsibilities at home and the challenges they faced due to the disruption of special services during the pandemic.FindingsFour key themes emerged from this study: (1) the pandemic led to the disruptions of special services for children with intellectual disabilities, (2) children's physical mobility was restricted at home, and they could not access regular need‐based therapies or exercise their social skills in special schools, (3) parents suffered psychological stress as they could not fathom how to manage the children at home and (4) parents underwent financial hardships due to their lack of resources and loss of family income during the pandemic.ConclusionsParents emphasized the need for timely information regarding disability‐related measures to understand and deal with the risks of the pandemic. Some parents tried to engage their children in activities at home. This study recommends the strengthening of disability training for parents to limit the negative psychological effects and issues faced by children with intellectual disabilities. Future research should explore and unravel positive coping mechanisms used by the parents.
Getting Crowdsourcing Right: Aligning Crowdsourcing Goals and Decision‐Making Processes
Authors: Shuai Min , Steils Nadia , Gailly Benoît 
Published: January 2025

ABSTRACTThe mismatch between crowdsourcing goals and decision making across the crowdsourcing process is likely to not only generate participants' negative feelings but also unsatisfactory outcomes. However, the crowdsourcing literature has thus far mainly focused on how to make decisions at each stage of the process, overlooking the alignment between crowdsourcing goals, decision making and project outcome satisfaction. To address this gap, our research conducted in‐depth interviews with managers involved in crowdsourcing, triangulated with secondary data from real‐life contests to provide a comprehensive analysis. Specifically, we empirically examine the influence of three types of crowdsourcing goals, namely, fishing, hunting and collective production; on decision making at each stage of the crowdsourcing process, that is, ideation, selection, implementation and evaluation. We additionally observe how the alignment between crowdsourcing goals and decision making affects managers' perception and evaluation of the crowdsourcing initiative. We thus contribute to the crowdsourcing and innovation management literature by investigating project‐related crowdsourcing decision making in line with predefined crowdsourcing goals and provide a blueprint for managers toward a more effective project management style.
Sexual violence, secrets, and work: Ruling relations of campus sexual violence policy
Authors: Ostridge Lindsay 
Published: January 2025

AbstractCampus sexual violence complaints involving students might seem easy to record and report, but university campuses in North America have a culture of secrecy and tend to focus on neoliberal approaches. In this paper, I trace the genealogy of a sexual violence policy from an unnamed university to argue that ruling relations make the current provincially mandated stand‐alone sexual violence policies into a performative tool that silences expert knowledges, coordinates institutional practices towards a particular type of sexual violence prevention, and re‐inforces a broader neoliberal logic in higher education. I explore my argument in the following three sections: the social organization of the policy and prevention campaign, the rules and regulations of the policy, and the neoliberalism of the current sexual violence discourse. As my analytical framework, I draw on Dorothy Smith's social ontology, which aims to investigate the practices and experiences of people by focusing on work and bodily existence as key points of reference. Drawing upon in‐depth semi‐structured interviews I conducted with fourteen participants (and one email exchange) at an unnamed Ontario university, I analyze how variously positioned people within an institutional structure negotiate relations of ruling in the specific context of campus sexual violence.
Deciphering the Genetic and Epidemiological Landscape of Inherited Retinal Diseases (IRDs) in a Cohort of Eastern Iranian Patients
Authors: Ardehaie Reza Mousavi , Eslahi Atieh , Alerasool Masoome , Rad Elham Khani , Shoeibi Nasser , Sedaghat Mohammad Reza , Avan Amir , Pasdar Alireza , Mojarrad Majid 
Published: January 2025

ABSTRACTInherited retinal diseases (IRDs) may have significant diagnostic challenges due to their genetic complexity and diverse inheritance patterns. Advanced genotyping tools like exome sequencing (ES) offer promising opportunities for identifying causative variants and improving disease management. This retrospective study was aimed to present prevalent pathogenic and novel variants in patients diagnosed with IRDs using ES. We investigated 154 patients diagnosed clinically with IRDs, of which non‐syndromic IRDs were more prevalent than syndromic form (~56% vs. ~44%). Out of 154 unrelated patients, 133 (~86%) were genetically resolved, where retinitis pigmentosa was the most common subtype (26% of all resolved patients). Fifty‐three previously known and also 56 novel variants across known IRD genes were identified. Autosomal recessive inheritance predominated in both resolved forms (112/133, 84.21%), with 46 novel variants. This could be due to high rate of consanguinity in the studied families (114/133 patients, 85.71%). The two previously reported ancestral founder pathogenic variants in TMEM67 (c.725A > G) and BBS2 (c.471G > A) genes, as well as the most common variant in AIPL1 gene (c.834G > A), were also prevalent in our patients. Interestingly, identical novel compound heterozygote of the CEP290 gene (c.3167C > A and c.7024C > T) were identified in two unrelated cases. This retrospective study was the first attempt in terms of sample size and diversity to add more to our current knowledge of the genetic makeup of IRDs in a population from the East of Iran. Our findings can facilitate genetic counselling and subtype classification of IRDs, especially in challenging cases.
Loss‐of‐Function of CLMP Is Associated With Congenital Short Bowel Syndrome and Impaired Intestinal Development
Authors: Chen Shanshan , Xu Juan , Xiao Yongtao , Cai Hui , Zhou Jie , Cai Wei , Wang Ying 
Published: January 2025

ABSTRACTCoxsackie and adenovirus receptor‐like membrane protein (CLMP) mutation is identified as a genetic risk factor of congenital short bowel syndrome (CSBS). However, the specific pathogenic mechanism remains unclear. This study aimed to explore the clinical manifestations, genetic characteristics, and molecular mechanisms underlying CSBS caused by CLMP mutations. Whole‐exome sequencing was performed to determine the pathogenic gene mutations in children with CSBS and their family members. In addition, a zebrafish model was established by microinjecting morpholinos into zebrafish embryos to investigate the role of clmp in intestinal embryonic development. This was investigated by measuring the length of zebrafish, evaluating gastrointestinal motility, and performing qRT‐PCR assays. Two children with CSBS had CLMP mutations, one with a c.244C>T (p.R82*) mutation and exons 3–5 deletion, and the other with a c.23T>A (p.L8*) mutation and exons 3–5 deletion. After knocking down clmp expression in zebrafish embryos, the intestinal length and the gastrointestinal motility decreased. Furthermore, the expression of smooth muscle‐associated genes decreased significantly. Additionally, clmp mRNA partially rescued zebrafish defects caused by clmp morpholino knockdown. Clmp knockdown decreased intestinal transport dynamics and expression of smooth muscle‐related genes in zebrafish. CLMP is expected to be a potential gene therapeutic target for CSBS.
Blood flow restriction combined with nordic hamstring exercise does not impair endothelial function but does not increase neuromuscular activation
Authors: Yuksel Fuat , Guzel Nevin , Tor Ömer Burak , Akkan Koray 
Published: January 2025

AbstractBackgroundOptimizing hamstring exercises is crucial for injury prevention and performance. This study explored the effects of blood flow restriction (BFR) during Nordic hamstring exercises (NHE) on hamstring muscle activation and vascular function.MethodsA randomized, single‐blind study included 14 healthy, physically active males (mean age: 27.5 years). Each participant's lower extremities were randomly assigned to BFR or control groups. In the BFR group, blood flow was restricted to 60% of arterial occlusion pressure. Participants performed three sets of five NHE repetitions. Endothelial function was assessed by flow‐mediated dilation (FMD) via Doppler ultrasound before and after exercise. Surface electromyography (EMG) recorded neuromuscular activation of the semitendinosus (ST) and biceps femoris (BF) muscles during exercises.ResultsFMD values showed no significant differences between BFR and control groups (F(1,13) = 0.156, p = 0.7, partial η² = 0.012). Neuromuscular activations of ST and BF muscles decreased across sets in both groups but did not differ significantly between groups (ST: F(2,26) = 1.172, p = 0.448, partial η² = 0.09; BF: F(2,26) = 1.442, p = 0.527, partial η² = 0.1).ConclusionsBFR did not produce acute additional effects on muscle activation or endothelial function compared to standard NHE. This suggests that incorporating BFR in NHE may not enhance immediate neuromuscular or vascular responses. Further research is needed to evaluate its long‐term benefits.
Tricuspid Regurgitation after Orthotopic Heart Transplantation: Trajectories and Association With Mortality
Authors: Belani Kiran , Brinker Vincent , Fuller Matthew , Cooter Mary , Schroder Jacob N. , Mamoun Negmeldeen , DeVore Adam , Swaminathan Madhav , Nicoara Alina , McCartney Sharon L. 
Published: January 2025

AbstractBackgroundTricuspid regurgitation (TR) is common immediately after orthotopic heart transplantation (OHT), though the expected outcomes of TR over time remain undefined. In this study, we examined the natural trajectory of TR in the first 120 days post‐transplantation. We observed the clinical phenotypes of trajectories of TR after OHT, and assessed trajectory correlation with 1‐year mortality and degree of right ventricular (RV) dysfunction.MethodsAll patients who underwent OHT at a single institution from January 2009 to July 2019 were included, unless death occurred during the index hospitalization. TR and RV dysfunction on follow‐up transthoracic echocardiograms were tracked on 4‐point scales and latent‐class mixed modeling (LCMM) identified classes of TR trajectories. Fisher's exact test was used to compare 1‐year mortalities between classes.ResultsBased on LCMM, four distinct classes of TR trajectories emerged, characterized as sustained (n = 40), variable (n = 172), stable (n = 175), and recovered (n = 189) TR. Significant differences in mortality rates were found amongst classes at 10.0%, 8.1%, 4.0%, and 2.6%, respectively (p = 0.025). The degree of RV dysfunction mirrored TR severity in all subsets except the sustained TR group.ConclusionsThe trajectory of TR in the first 120 days post‐OHT is associated with 1‐year mortality. In many subsets, there is a close association with TR grade and RV function improvement. However, in the sustained TR group, RV function improved without subsequent improvement in TR severity. These findings could identify patients with higher mortality risk for whom more frequent follow‐up or intervention is warranted.
Increased Mortality in Kidney Transplant Recipients During the Delta/Omicron Era of the COVID‐19 Pandemic Despite Widespread Vaccination
Authors: Smith Byron , Nair Sumi , Wadei Hani , Mai Martin , Khamash Hasan , Schinstock Carrie , Liang Yun , Abdelrheem Ahmed , Park Walter , Badley Andrew , Stegall Mark D. 
Published: January 2025

ABSTRACTIntroductionThe incidence of mortality late in the pandemic, particularly after widespread vaccine availability, is not well understood. Herein, we elucidate the effect of this impact of the COVID pandemic as well as risk factors for mortality during it.MethodsThe primary end point was death with a functioning graft with secondary endpoints of mortality rates in subgroups and at different time intervals during the pandemic.ResultsDespite widespread vaccination, mortality rates for kidney transplant (KTx) recipients almost doubled during the COVID‐19 era (6.40 deaths per 100 person years vs. 3.54 pre‐COVID). Mortality increased in all racial/ethnic groups but increased more in Native Americans, Hispanics, and African Americans compared to non‐Hispanic Caucasians. The highest mortality rate occurred during the Delta and Omicron time frames. In contrast to the general population, mortality was more evenly spread across age groups in KTx recipients.ConclusionsMortality rates during the COVID‐19 era were extremely high, more than doubling in some racial/ethnic groups. We conclude that the KTx population was a particularly vulnerable group during the COVID‐19 era and suggests the need for further research into the management of variants in the future.
Socioeconomic and mental health inequalities in global burden of type 2 diabetes: Evidence from the Global Burden of Disease Study 2021
Authors: Chen Mingling , Dou Chun , Ye Chaojie , Kong Lijie , Xu Min , Xu Yu , Li Mian , Zhao Zhiyun , Zheng Jie , Lu Jieli , Chen Yuhong , Ning Guang , Wang Weiqing , Wang Tiange , Bi Yufang 
Published: January 2025

AbstractAimTo explore the holistic impact of socioeconomic and mental health inequalities on the global burden of type 2 diabetes.Materials and MethodsThis cross‐sectional study used data on the incidence, disability‐adjusted life years (DALYs), and mortality of type 2 diabetes as well as DALYs attributable to risk factors during 1990–2021 from the Global Burden of Disease Study 2021. Average annual percent change (AAPC) was applied to assess the temporal trends from 1990 to 2021. Countries were categorised according to levels of sociodemographic index (SDI) and prevalence of depressive disorders or anxiety disorders.ResultsIn 2021, the highest age‐standardised incidence rate (per 100 000 population) for type 2 diabetes was in countries with a higher prevalence of depressive or anxiety disorders (ranging from 466.35 to 517.08), wherein those with higher SDI experienced the fastest increase from 1990 to 2021 (AAPC ranging from 2.51% to 2.61%). The highest age‐standardised rates of DALY and mortality (per 100 000 population) for type 2 diabetes in 2021 were in countries with lower SDI, of which countries with a higher prevalence of depressive or anxiety disorders exhibited the greatest burden (ranging from 1714.38 to 2012.12 for DALY; from 48.66 to 51.91 for mortality). The attributable risk factors for DALYs of type 2 diabetes varied across countries with different SDI levels and prevalence of mental disorders.ConclusionsThe results suggest that the imbalance of faster socioeconomic development but worse mental health underpins diabetes incidence, while slower socioeconomic development and worse mental health jointly contribute to the disability and mortality burdens of diabetes. It is imperative to promote mental health alongside economic and social development to address the public health challenge of type 2 diabetes.
Wildfires induce a reduction in body size and morphological variation of an insular endemic insect
Authors: Rhee Howon , Naber Sabine , Krehenwinkel Henrik , Hochkirch Axel 
Published: January 2025

Abstract
Anthropogenetic disturbance is known to affect population sizes and genetic population structure of many biotas. Wildfires are a major disturbance in many regions of the world, particularly in Mediterranean regions and on the Atlantic islands.
Populations of many insects, such as the Madeiran Green Bush‐Cricket (Psalmatophanes barretoi), are threatened by wildfires. However, the effects of wildfires on genetic structure and diversity as well as morphological variation of the populations remain little understood.
Therefore, we studied genetic diversity, structure and potential bottlenecks of this species using microsatellites. We also studied morphological variation and fluctuating asymmetry within and between populations to unravel potential effects of wildfires.
We did not find any evidence for genetic differentiation of populations, but some populations had high heterozygosity excess, regardless of burning. Morphological variation in burnt areas was lower than in non‐burnt areas. Fluctuating asymmetry of the wing length was significantly higher in burnt areas.
Our results show that even genetically well‐connected populations may suffer from bottlenecks leading to reduced morphological variation after disturbance.
Systemic calcinosis in horses: Pathological and genetic aspects
Authors: Carvalho Serena Guilherme , Marchezan Piva Manoela , Viezzer Bianchi Matheus , Fernandes da Fonseca Helena Carolina , Chitolina Pupin Rayane , Martins Basso Roberta , Secorun Borges Alexandre , Monteiro Nunes Marcelo , Driemeier David , Panziera Welden , Oliveira‐Filho José Paes , Gomes Danilo Carloto , Pavarini Saulo Petinatti 
Published: January 2025

AbstractBackgroundIn horses, systemic calcinosis is a rare syndrome characterised by muscle lesion associated with the mineralisation of large muscle groups or other organs, in the absence of an alternative cause for the calcification, such as toxic, enzootic or metabolic. Molecular and histopathological aspects of the disease are still poorly elucidated.ObjectivesTo describe the epidemiological, pathological and molecular aspects of systemic calcinosis in a convenience sample of six horses submitted to necropsy in the Southern and Midwestern regions of Brazil.Study designRetrospective exploratory study.MethodsPost‐mortem necropsy records of six horses with a cause of death compatible with systemic calcinosis, were reviewed followed by histopathology, immunohistochemistry, microbiology and molecular investigation.ResultsThe affected horses were all Quarter Horses with a mean age of 16.8 months, and an average disease course of 15.5 days. Muscle necrosis and mononuclear infiltration were observed in all animals in association with mineral deposition variably affecting the muscle tissue and/or other organs such as heart, lung and kidney. All tested animals (5/6) showed positive PCR results for the E321G MYH1 gene variant, which encodes the heavy chain of fast‐contracting skeletal muscle myosin and is associated with myopathy. Three horses demonstrated positive immunostaining for Streptococcus equi, which is a known trigger for immune responses.Main limitationsThe study was limited by the small sample size, molecular evaluation was not completed in one animal due to technical limitations, lack of pre‐mortem evaluation of calcium metabolism and lack of accurate descriptions in the necropsy reports of involvement of each muscle individually.ConclusionsIn horses, systemic calcinosis syndrome causes immune‐mediated muscle lesions in association with calcification of organs and tissues, varying greatly among animals. The E321G MYH1 variant was present in all horses tested for the variant and could be involved in the pathophysiology of systemic calcinosis.