bluuebunny/crossref_metadata_2025_split huggingface dataset:
Temporomandibular Joint Space in Mandibular Prognathism
Authors: Shin Dongsun , Keum Hye In , Yoo Seung Rim , Lim Hun Jun , Kim Bong Chul 
Published: March 2024

This study compared the temporomandibular joint (TMJ) space between patients with normal and prognathic mandibles. The study included a total of 68 Korean individuals, and the TMJ space was measured using computed tomography. Patients with normal SNB values (normal mandible) were classified into Group 1. Patients with high SNB values (prognathic mandibles) were categorized into Group 2. The TMJ space was defined as the distance between the condylar process and the mandibular fossa, and it was significantly different between Groups 1 and 2 (1.94±0.07 mm versus 1.50±0.05 mm, P<0.01). This study confirmed that the TMJ space in patients with prognathic mandibles is narrower than that in patients with normal mandibles.
Operative Volumes and Postoperative Outcomes After Elective Resection of Congenital Lung Malformations in Infants
Authors: Engwall-Gill Abigail J. , Weller Jennine H. , Salvi Pooja S. , Sescleifer Anne M. , Penikis Annalise B. , Sferra Shelby R. , Halbert-Elliott Kyra M. , Rhee Daniel S. , Solomon Daniel G. , Kunisaki Shaun M. 
Published: March 2024

Objective:
To determine whether hospital- and surgeon-level operative volumes are associated with differences in postoperative outcomes among infants undergoing elective lung surgery for a congenital lung malformation (CLM).

Summary Background Data:
Infant lung surgery is a relatively uncommon procedure performed by pediatric surgeons nationwide. The relationship between surgical volume and postoperative outcomes remains unknown.

Methods:
A retrospective cohort study of asymptomatic infants who underwent elective lung resection of a CLM was conducted using the Pediatric Health Information System database (2016-2020). Multivariable linear and poisson regressions were performed based on annual lung resection tertiles.

Results:
There were 1420 infants managed by 48 hospitals and 309 primary surgeons. Institutions that performed seven or fewer CLM resections per year (56%) were associated with significantly higher postoperative complication rates compared to medium- and high-volume hospitals (low: 134 [34%], medium: 110 [21%], high: 144 [29%]; P<0.001). Surgeons who performed one or fewer CLM resections per year (82%) were associated with significantly higher complication rates compared to medium- and high-volume surgeons (low: 171 [31%], medium: 75 [26%], high: 119 [24%]; P=0.02). Multivariable analyses confirmed that low-volume hospitals were associated with higher complications (OR 1.81, CI 1.38-2.37; P<0.001), and low-volume surgeons had an increased risk of complications (overall: OR 1.37, CI 1.01-1.84; P=0.04).

Conclusions:
In this cohort study of infants undergoing elective lung resection for a CLM, lower volume providers were associated with higher postoperative patient morbidity. These findings represent an opportunity to inform quality improvement initiatives on pediatric lung resection and the debate on surgical subspecialization for this unique patient population.
Newly identified nematodes from the Great Salt Lake are associated with microbialites and specially adapted to hypersaline conditions
Authors: Jung Julie , Loschko Tobias , Reich Shelley , Rassoul-Agha Maxim , Werner Michael S. 
Published: March 2024

Extreme environments enable the study of simplified food-webs and serve as models for evolutionary bottlenecks and early Earth ecology. We investigated the biodiversity of invertebrate meiofauna in the benthic zone of the Great Salt Lake (GSL), Utah, USA, one of the most hypersaline lake systems in the world. The hypersaline bays within the GSL are currently thought to support only two multicellular animals: brine fly larvae and brine shrimp. Here, we report the presence, habitat, and microbial interactions of novel free-living nematodes. Nematode diversity drops dramatically along a salinity gradient from a freshwater river into the south arm of the lake. In Gilbert Bay, nematodes primarily inhabit reef-like organosedimentary structures built by bacteria called microbialites. These structures likely provide a protective barrier to UV and aridity, and bacterial associations within them may support life in hypersaline environments. Notably, sampling from Owens Lake, another terminal lake in the Great Basin that lacks microbialites, did not recover nematodes from similar salinities. Phylogenetic divergence suggests that GSL nematodes represent previously undescribed members of the family Monhysteridae—one of the dominant fauna of the abyssal zone and deep-sea hydrothermal vents. These findings update our understanding of halophile ecosystems and the habitable limit of animals.
Dominance reversals: the resolution of genetic conflict and maintenance of genetic variation
Authors: Grieshop Karl , Ho Eddie K. H. , Kasimatis Katja R. 
Published: March 2024

Beneficial reversals of dominance reduce the costs of genetic trade-offs and can enable selection to maintain genetic variation for fitness. Beneficial dominance reversals are characterized by the beneficial allele for a given context (e.g. habitat, developmental stage, trait or sex) being dominant in that context but recessive where deleterious. This context dependence at least partially mitigates the fitness consequence of heterozygotes carrying one non-beneficial allele for their context and can result in balancing selection that maintains alternative alleles. Dominance reversals are theoretically plausible and are supported by mounting empirical evidence. Here, we highlight the importance of beneficial dominance reversals as a mechanism for the mitigation of genetic conflict and review the theory and empirical evidence for them. We identify some areas in need of further research and development and outline three methods that could facilitate the identification of antagonistic genetic variation (dominance ordination, allele-specific expression and allele-specific ATAC-Seq (assay for transposase-accessible chromatin with sequencing)). There is ample scope for the development of new empirical methods as well as reanalysis of existing data through the lens of dominance reversals. A greater focus on this topic will expand our understanding of the mechanisms that resolve genetic conflict and whether they maintain genetic variation.
Transcriptional Regulation of Protein Synthesis by Mediator Kinase in MYC-driven Medulloblastoma
Authors: Wang Dong , Ritz Caitlin , Pierce Angela , Brunt Breauna , Luo Yuhuan , Dahl Nathan , Venkataraman Sujatha , Danis Etienne , Kuś Kamil , Mazan Milena , Rzymski Tomasz , Veo Bethany , Vibhakar Rajeev 
Published: March 2024

AbstractMYC-driven medulloblastoma (MB) is a highly aggressive cancer type with poor prognosis and limited treatment options. Through CRISPR-Cas9 screening across MB cell lines, we identified the Mediator-associated kinase CDK8 as the top dependence for MYC-driven MB. Loss of CDK8 markedly reduces MYC expression and impedes MB growth. Mechanistically, we demonstrate that CDK8 depletion suppresses ribosome biogenesis and mRNA translation. CDK8 regulates occupancy of phospho-Polymerase II at specific chromatin loci facilitating an epigenetic alteration that promotes transcriptional regulation of ribosome biogenesis. Additionally, CDK8-mediated phosphorylation of 4EBP1 plays a crucial role in initiating eIF4E-dependent translation. Targeting CDK8 effectively suppresses cancer stem and progenitor cells, characterized by increased ribosome biogenesis activity. We also report the synergistic inhibition of CDK8 and mTORin vivoandin vitro. Overall, our findings establish a connection between transcription and translation regulation, suggesting a promising therapeutic approach targets multiple points in the protein synthesis network for MYC-driven MB.
De novogenome assembly ofMyricaria laxifloraprovides insights into its molecular mechanisms under flooding stress
Authors: Weibo Xiang , Linbao Li , Guiyun Huang , Bicheng Dun , Huiyuan Chen , Xiaobo Ma , Haibo Zhang , Zhiqiang Xiao , Jihong Liu , Zhen Yang , Di Wu 
Published: March 2024

AbstractM. laxiflorais an endangered plant distributed in the Yangtze River floodplain of China, which often suffers from flood hazards during its growth and development. Due to the lack of a reference genome forM. laxiflora, the molecular regulatory mechanism of its waterlogging stress remains unclear. Here, we report for the first time the high-quality reference genome ofM. laxifloraby using HiFi sequencing and Hi-C. The total assembly size of theM. laxifloragenome was 1.29 Gb with a scaffold N50 size of 29.5 Mb. A total of 23,666 genes encoding proteins and 5,457 ncRNA were predicted in this reference genome. In theM. laxifloragenome, a total of 101 MylAP2/ERF genes were identified and divided into 5 subgroups. Many MeJA responsive elements, ABA responsive elements, and hypoxia responsive elements were found in the promoter regions of these MylAP2/ERF genes. Based on transcriptome data analysis, a total of 74 MylAP2/ERF genes can respond to flooding stress. Meanwhile, it was found that three genes (MylAP2/ERF49/78/91) which belong to the same branch with RAP2.2 gene exhibited different expression trends under flooding stress. Our results provide valuable information on the molecular regulatory mechanism of flooding stress inM. laxiflora.
Influence of frailty on cardiovascular events and mortality in patients with Chronic Obstructive Pulmonary Disease (COPD): Study Protocol for a multicentre European observational study
Authors: Verduri A , Clini E , Carter B , Hewitt J 
Published: March 2024

ABSTRACTBackgroundFrailty is a clinical state that increases susceptibility to minor stressor events. The risk of frailty is higher in chronic conditions, such as Chronic Obstructive Pulmonary Disease (COPD). Recent studies on COPD have shown that patients living with frailty have an increased risk of mortality. The presence of cardiovascular diseases or conditions are common in COPD and may increase the risk of death.MethodsThis protocol describes a European prospective cohort study of community-based people, in a stable condition with diagnosis of COPD (as defined by GOLD guidelines) across hospitals in Italy and UK. Frailty prevalence will be assessed using the Clinical Frailty Scale. At 1- and 2-year follow up, primary outcome will be the impact of frailty on the number of cardiovascular events; secondary outcomes: the influence of frailty on cardiovascular mortality, all-cause mortality, and deaths due to COPD. For the primary outcome a zero-inflated Poisson regression will compare the number of cardiovascular events at 1 year. Secondary outcomes will be analysed using the time to mortality.DiscussionThis multicentre study will assess the association between frailty and cardiovascular events and mortality in population with COPD. Data collection is prospective and includes routine clinical data. This research will have important implications for the management of patients with COPD to improve their quality of care, and potentially prognosis.Trial registration numberNCT05922202 (www.clinicaltrials.gov).
Determining Optimal Placement of Copy Number Aberration Impacted Single Nucleotide Variants in a Tumor Progression History
Authors: Wu Chih Hao , Joshi Suraj , Robinson Welles , Robbins Paul F. , Schwartz Russell , Sahinalp S. Cenk , Malikić Salem 
Published: March 2024

AbstractIntratumoral heterogeneity arises as a result of genetically distinct subclones emerging during tumor progression. These subclones are characterized by various types of somatic genomic aberrations, with single nucleotide variants (SNVs) and copy number aberrations (CNAs) being the most prominent. While single-cell sequencing provides powerful data for studying tumor progression, most existing and newly generated sequencing datasets are obtained through conventional bulk sequencing. Most of the available methods for studying tumor progression from multi-sample bulk sequencing data are either based on the use of SNVs from genomic loci not impacted by CNAs or designed to handle a small number of SNVs via enumerating their possible copy number trees. In this paper, we introduceDETOPT, a combinatorial optimization method for accurate tumor progression tree inference that places SNVs impacted by CNAs on trees of tumor progression with minimal distortion on their variant allele frequencies observed across available samples of a tumor. We show that on simulated dataDETOPTprovides more accurate tree placement of SNVs impacted by CNAs than the available alternatives. When applied to a set of multi-sample bulk exome-sequenced tumor metastases from a treatment-refractory, triple-positive metastatic breast cancer,DETOPTreports biologically plausible trees of tumor progression, identifying the tree placement of copy number state gains and losses impacting SNVs, including those in clinically significant genes.
PREVALENCE, INCIDENCE AND DETERMINANTS OF QUANTIFERON-POSITIVITY IN SOUTH AFRICAN SCHOOLCHILDREN
Authors: Stewart Justine , Walker Neil , Jennings Karen , Delport Carmen , Nuttall James , Coussens Anna K , Dyers Robin , Jolliffe David A , Tang Jonathan C. Y. , Fraser William D , Wilkinson Robert J , Bekker Linda-Gail , Martineau Adrian R , Middelkoop Keren 
Published: March 2024

ABSTRACTBackgroundTuberculosis (TB) control requires the understanding and disruption of TB transmission. We describe prevalence, incidence and risk factors associated with childhood TB infection in Cape Town.MethodsWe report cross-sectional baseline and prospective incidence data from a large trial among primary school children living in high TB-burden communities. Prevalent infection was defined as QuantiFERON-TB Gold Plus (QFT-Plus) positivity as assessed at baseline. Subsequent conversion to QFT-Plus positivity was measured 3 years later among those QFT-Plus-negative at baseline. Multivariable logistic regression models examined factors associated with TB infection.ResultsQuantiFERON-positivity at baseline (prevalence: 22.6%, 95% Confidence Interval [CI]: 20.9 – 24.4), was independently associated with increasing age (adjusted odds ratio [aOR] 1.24 per additional year, 95% CI: 1.15 – 1.34) and household exposure to TB during the participant’s lifetime (aOR 1.87, 95% CI: 1.46 – 2.40). QFT-Plus conversion at year 3 (12.2%, 95% CI: 10.5-14.0; annual infection rate: 3.95%) was associated with household exposure to an index TB case (aOR 2.74, 95% CI: 1.05 to 7.18).ConclusionRates of QFT-diagnosed TB infection remain high in this population. The strong association with household TB exposure reinforces the importance of contact tracing, preventative treatment and early treatment of infectious disease to reduce community transmission.
Burden and Determinants of Self-Reported High Blood Pressure Among Women of Reproductive Age In Tanzania: Evidence from 2022 Tanzania Demographic and Health Survey
Authors: Musilanga Nelson , Nasib Hussein , Mwakibolwa Ambokile , Jackson Given , Shayo Frank , Kijusya Keneth , Henry Samson , Nhanga Clarkson , Girukwigomba Saleh , Keshi Joseph , Luwumba Mussa 
Published: March 2024

AbstractBackgroundHigh blood pressure, commonly referred to as hypertension, remains a prevalent global health concern characterized by elevated arterial pressure. Its multifactorial etiology involves genetic predisposition, lifestyle factors, and comorbidities, posing significant risks such as cardiovascular diseases, stroke, and kidney diseases. Therefore, the aim of this study was to assess the burden and determinants of self-reported high blood pressure among women of reproductive age in Tanzania.MethodsWe utilized population-based cross-sectional data obtained from the Tanzania Demographic and Health Survey (TDHS) 2022, specifically phase VIII. The analysis involved a weighted sample of 15,254 women aged 15-49 years. The outcome variable was self-reported high blood pressure. Multivariable logistic regression models were employed to examine the independent variables associated with self-reported high blood pressure, and the results were presented as adjusted odds ratios (aOR) with a 95% confidence interval (CI). The significance level was set at p < 0.05 for all analyses.ResultsOverall, the mean age of study participants was 29.3 ± 9.8 years, with a self-reported high blood pressure burden of 6.6% among women of reproductive age in Tanzania. Moreover, increased age correlated with higher odds of high blood pressure compared to women aged 15-19 years. Those with a secondary level of education exhibited a higher likelihood of high blood pressure (aOR: 1.76, 95% CI: 1.36-2.28, p < 0.001) in contrast to women with no education. Married (aOR: 1.57, 95% CI: 1.19-2.08, p=0.002) and widowed (aOR: 1.54, 95% CI: 1.11-2.12, p=0.009) individuals were more prone to high blood pressure than those who were never married. Additionally, women in higher wealth brackets showed a significantly elevated risk of high blood pressure compared to those in the poorest wealth group. Giving birth once or twice in the last 5 years reduced the odds by 20% (aOR: 0.80, 95% CI: 0.67-0.96, p < 0.001). Conversely, self-reported poor health status and recent visits to health facilities were associated with significantly higher odds of high blood pressure (aOR: 2.87, 95% CI: 1.76-4.67, p < 0.001) and (aOR: 1.38, 95% CI: 1.20-1.60, p < 0.001), respectively.ConclusionThis study highlights the substantial burden of high blood pressure among reproductive-age women, urging heightened awareness and proactive screening measures. It unveils intricate factors contributing to elevated blood pressure, suggesting tailored strategies involving lifestyle changes, education, and improved healthcare access. These findings prompt targeted interventions, emphasizing the need for collaborative efforts among stakeholders to effectively curb this health burden.
“ARVs is for HIV and cream is for HPV or precancer:” Women’s Perceptions and Perceived Acceptability of Self-Administered Topical Therapies for Cervical Precancer Treatment: A Qualitative Study from Kenya
Authors: Mungo Chemtai , Kachoria Aparna Ghosh , Adoyo Everlyn , Zulu Graham , Goraya Supreet Kaur , Omoto Jackton , Osongo Cirilus , Ferrari Renée M. , Rahangdale Lisa 
Published: March 2024

AbstractBackgroundWomen in low- and middle-income countries (LMICs) bear a disproportionate burden of cervical cancer, despite being a preventable disease. Prevention efforts in LMICs are hindered in part by lack of access to cervical precancer treatment, due to weak health infrastructure and a lack of adequate human resources to deliver current provider-administered precancer treatments. Innovative strategies are urgently needed to close the cervical precancer treatment gap in LMICs, including the use of self-administered topical therapies such as 5-fluorouracil and imiquimod, for which efficacy evidence is available from high-income settings. We investigated African women’s perceptions and perceived acceptability of these therapies for cervical precancer treatment.MethodsBetween November 2022 and April 2023, we conducted five focus group discussions (FGDs) with women ages 25-65 years undergoing cervical cancer screening or precancer treatment in Kisumu, Kenya. The FGDs explored women’s experiences with screening and precancer treatment, their acceptability of topical therapies for precancer treatment, and perceived barriers and facilitators to uptake. The FGDs were moderated by local qualitative research assistants, conducted in local languages, transcribed, coded, and analyzed using qualitative description using NVIVO software.ResultsTwenty-nine women participated, with a mean age of 35.4 years (SD 6.5). All had undergone cervical cancer screening, and 25 (83%) had a history of precancer treatment with ablation or excision. Multiple themes were identified related to women’s perceptions of topical therapies. Participants were highly receptive of topical treatments, with many favoring the option of self-administration compared to provider-administration of such therapies. Self-administration of topical therapies was felt to help address challenges associated with current treatment methods, including difficulty in access, pain with procedures, cost, and lack of privacy with pelvic exams. Participants had a preference for topical therapies that are used less frequently compared to those used daily.ConclusionsAmong Kenyan women with a history of cervical precancer treatment, self-administered topical therapies for precancer are acceptable and have the potential to address barriers, including access, privacy, and cost, that hinder precancer treatment in LMICs. If supported by efficacy studies in LMICs, self-administered topical therapies offer a scalable approach to closing the precancer treatment gap in LMICs.Trial registrationNot applicable
Characterizing genetic profiles for high triglyceride levels in U.S. patients of African ancestry
Authors: Jiang Lan , Gangireddy Srushti , Dickson Alyson L. , Xin Yi , Yan Chao , Kawai Vivian , Cox Nancy J. , Linton MacRae F. , Wei Wei-Qi , Stein C. Michael , Feng QiPing 
Published: March 2024

ABSTRACTHypertriglyceridemia (HTG) is a common cardiovascular risk factor characterized by elevated circulating triglyceride (TG) levels. Researchers have assessed the genetic factors that influence HTG in studies focused predominantly on individuals of European ancestry (EA). However, relatively little is known about the contribution of genetic variation to HTG in people of AA, potentially constraining research and treatment opportunities; the lipid profile for African ancestry (AA) populations differs from that of EA populations—which may be partially attributable to genetics. Our objective was to characterize genetic profiles among individuals of AA with mild-to-moderate HTG and severe HTG versus those with normal TGs by leveraging whole genome sequencing (WGS) data and longitudinal electronic health records (EHRs) available in the All of Us (AoU) program. We compared the enrichment of functional variants within five canonical TG metabolism genes, an AA-specific polygenic risk score for TGs, and frequencies of 145 known potentially causal TG variants between patients with HTG and normal TG among a cohort of AA patients (N=15,373). Those with mild-to-moderate HTG (N=342) and severe HTG (N≤20) were more likely to carryAPOA5p.S19W (OR=1.94, 95% CI [1.48-2.54], p=1.63×10-6and OR=3.65, 95% CI [1.22-10.93], p=0.02, respectively) than those with normal TG. They were also more likely to have an elevated (top 10%) PRS, elevated carriage of potentially causal variant alleles, and carry any genetic risk factor. Alternative definitions of HTG yielded comparable results. In conclusion, individuals of AA with HTG were enriched for genetic risk factors compared to individuals with normal TGs.