bluuebunny/crossref_metadata_2025_split huggingface dataset:
The association between neighbourhood walkability and blood lipids: a Canadian population study
Authors: Cakmak Sabit , Lukina Anna , Dales Robert 
Published: September 2024

AbstractWe examined the association between walkability and blood lipids in a nationally representative sample of 29,649 participants aged 3–79 years who participated in the Canadian Health Measures Survey (CHMS) cycles 1 to 6. We focused on seven lipid biomarkers: apolipoprotein A (Apo A), apolipoprotein B (Apo B), triglycerides (TG), high-density lipoprotein cholesterol (HDL), low-density lipoprotein cholesterol (LDL), total cholesterol (TC), and TC/HDL. Cross-sectional associations were analyzed using generalized linear mixed models incorporating survey-specific sampling weights. An increase in the Canadian Active Living Environments Index, a measure of neighborhood walkability, equivalent to the magnitude of its interquartile range (IQR) was associated with the following percentage (95% confidence intervals (CI)) changes in lipids: decreased TG, -2.85 (-4.77, -0.93) and TC/HDL, -1.68 (-2.80, -0.56), and increased HDL, 1.68 (0.93, 2.42). Significant effects were largely restricted to adults (aged 17 to 79). In the younger age group there were no significant associations between walkability and lipids in the fully adjusted model. Significant associations were more frequently seen in females than males. For females, fully adjusted significant inverse associations were observed for TG, LDL, and TC/HDL, and there were positive associations with HDL and Apo A. Canadians living in more walkable neighborhoods have more favorable lipid profiles, suggesting that the built environment has the potential to influence the risk profile for cardiovascular health, especially among adults and females.
Intraosseous myofibroma mimicking an odontogenic lesion: case report, literature review, and differential diagnosis
Authors: de Macêdo Santos José Wittor , Benitez Benito K. , Baumhoer Daniel , Schönegg Daphne , Schrepfer Thomas , Mueller Andreas. A. , Thieringer Florian M. 
Published: September 2024

Abstract
Background
Intraosseous myofibroma of the jaw is a rare neoplasm of mesenchymal origin with limited comprehensive understanding. It typically affects patients in the first two decades of life with a male predilection.

Case presentation
This study presents a rare case of myofibroma mimicking an odontogenic lesion in a 2-year-old boy. The patient presented with an incidental finding of a painless swelling of the right mandibular ramus of unknown etiology. Imaging analysis revealed a solid, expansile lesion adjacent to the germinal zone of the right mandibular first molar. Histopathologic analysis and immunohistochemistry after incisional biopsy suggested a possible central odontogenic fibroma, and the patient underwent total enucleation, leading to the final diagnosis of intraosseous myofibroma. Follow-up examinations showed no evidence of recurrence.

Conclusions
This report contributes to the understanding of myofibroma in pediatric patients and underscores the critical role of meticulous histopathologic examination for effective surgical planning and optimal patient outcomes.
Prognostic impact of nectin-like molecule-5 (CD155) expression in non-small cell lung cancer
Authors: Xitlally Popa-Navarro , Alejandro Avilés-Salas , Norma Hernández-Pedro , Mario Orozco-Morales , Enrique Caballé-Pérez , Cesar Castillo-Ruiz , José Lucio-Lozada , Pedro Barrios-Bernal , Juan-Manuel Hernandez-Martinez , Oscar Arrieta 
Published: September 2024

Abstract
Background
CD155 is a transmembrane protein that inhibits antitumor immune response and represents a predictor of worse prognosis in non-small-cell lung cancer (NSCLC). However, it remains unexplored its association with clinical characteristics and genomic status of Latin American patients. This study characterizes the CD155 expression and its clinical implications in this population.

Methods
Tissue biopsies from 86 patients with locally-advanced or metastatic NSCLC were assessed for CD155 protein expression, ALK rearrangements and EGFR mutations. Cutoff values for high CD155 expression (CD155high) were determined from receiver operating characteristic (ROC) curves according to 2-year survival. It was evaluated its association with clinicopathological features, median progression-free survival (mPFS) and overall survival (mOS).

Results
the cutoff score for CD155high was 155 in the entire cohort and in patients without oncogenic alterations, and it was 110 in patients with oncogenic alterations. Eighty-four patients (97.7%) were CD155 positive, of which fifty-six (65.0%) had CD155high. EGFR L858R mutation related to lower CD155 IHC score than exon 19 deletion. Individuals with CD155high showed a shorter mOS (13.0 vs. 30.8 months; HR: 1.96 [95% CI, 1.15–3.35]; p = 0.014). Patients without oncogenic alterations having a CD155high displayed shorter mPFS (1.6 vs. 6.4 months, HR: 2.09 [95% CI, 1.06–4.20]; p = 0.034) and mOS (2.9 vs. 23.1 months; HR: 1.27 [95% CI, 1.07– 4.42]; p = 0.032). Patients with oncogenic alterations having CD155high only showed a trend to shorter mOS (26.3 vs. 52.0 months; HR: 2.39 [95% CI, 0.98–5.83]; p = 0.058).

Conclusion
CD155high is a predictor of worse outcomes in patients with advanced NSCLC, predominantly among those without oncogenic alterations. CD155 could be a potential biomarker and a molecular target in patients with poor responses to current therapies.
Evaluating the effectiveness of a community-based health promotion intervention on knowledge improvement regarding low birth weight and its determinants among antenatal couples in Sri Lanka
Authors: Guruge G. N. Duminda , Young Sansfica M. , Perera K. M. N. , Dharmaratne S. D. , Gunathunga M. W. 
Published: September 2024

Abstract
Background
Improvement of the knowledge of pregnant mothers and their partners related to low birth weight (LBW) is a vital factor in preventing LBW and reducing its prevalence.

Objectives
Implement and evaluate the effectiveness of a community based health promotion intervention on pregnant mothers and their partners to increase knowledge on birth weight and its determinants. The second objective is to determine the difference of the birth weight after implementing the intervention.

Methods
A quasi experimental study design was used, and the setting was 806 pregnant mothers, 403 each in two districts. In 26 ANCs, twenty six initial training sessions were conducted as a group, with an average of three hours for each session. Three follow up sessions were conducted in each ANC over 04 months (in total 104 sessions). All sessions were conducted in groups of 10 to 20 antenatal couples. The pregnant mothers and their partners completed interviewer-administered questionnaires. Pre and post data were analysed based on four major knowledge categories using statistical methods. The McNemar’s Chi Square test; Chi Square test, Fisher’s Exact test, Paired t test, Student’s independent sample t test, Wilcoxon Signed Ranks test and Mann Whitney U test methods were applied as appropriate.

Results
Both mothers and their partners in the intervention group (IG) reached significantly higher gains in knowledge than in the comparison group (CG). The participants who got the lowest scores for knowledge, at the pre assessment, in IG, also improved more than the CG {mothers (p = 0.002) and partners (p = 0.007)}. The mean birth weight shows that the IG has significantly improved for both mothers (p < 0.001) and partners (p = 0.013) with low knowledge scores (< 50% of total).

Conclusions
Knowledge about birth weight and its determinants among pregnant mothers and their partners improved significantly.
DMDD, isolated from Averrhoa carambola L., ameliorates diabetic nephropathy by regulating endoplasmic reticulum stress-autophagy crosstalk
Authors: Shi Jianmei , Wang Yuxiang , Liang Tao , Wang Xixi , Xie Jingxiao , Huang Renbin , Xu Xiaohui , Wei Xiaojie 
Published: September 2024

Abstract
Background
Studies have shown that Averrhoa carambola L. possesses therapeutic potential for diabetes and related complications. However, the specific beneficial effects and molecular mechanisms of 2-dodecyl-6-meth-oxycyclohexa-2,5-diene-1,4-dione (DMDD) isolated from Averrhoa carambola L. on diabetic nephropathy (DN) require further investigation.

Methods
80 C57BL/6 J male mice were subjected to a 1-week adaptive feeding, followed by a high-fat diet and intraperitoneal injection of 100 mg/kg streptozotocin (STZ) to construct an in vivo DN model. Additionally, human renal proximal tubular epithelial cells (HK-2) induced by high glucose (HG) were used as an in vitro DN model. The expression levels of epithelial-mesenchymal transition (EMT), endoplasmic reticulum stress (ERS), and autophagy-related proteins in renal tubular cells were detected by Western Blot, flow cytometry, immunofluorescence, and enzyme-linked immunosorbent assay (ELISA) staining. Transcriptome analysis revealed was conducted to elucidate the specific mechanism of by which DMDD mitigates DN by inhibiting ERS and autophagy. HK-2 cells were transfected with IRE1α overexpression lentivirus to reveal the role of IRE1α overexpression in HG-induced HK-2.

Results
The experimental data showed that DMDD significantly reduced blood glucose levels and improved renal pathological alterations in DN mice. Additionally, DMDD inhibited the calcium (Ca2+) pathway, manifested by decreased autophagosome formation and downregulation of LC3II/I, Beclin-1, and ATG5 expression. Moreover, in HG-induced HK-2 cells, DMDD suppressed the overexpression of GRP78, CHOP, LC3II/I, Beclin1, and ATG5. Notably, IRE1α overexpression significantly increased autophagy incidence; however, DMDD treatment subsequently reduced the expression of LC3II/I, Beclin1, and ATG5.

Conclusion
DMDD effectively inhibits excessive ERS and autophagy, thereby reducing renal cell apoptosis through the IRE1α pathway and Ca 2+ pathway.
Meta-analysis of bone mineral density in adults with phenylketonuria
Authors: Rocha Júlio C. , Hermida Álvaro , Jones Cheryl J. , Wu Yunchou , Clague Gillian E. , Rose Sarah , Whitehall Kaleigh B. , Ahring Kirsten K. , Pessoa André L. S. , Harding Cary O. , Rohr Fran , Inwood Anita , Longo Nicola , Muntau Ania C. , Sivri Serap , Maillot François 
Published: September 2024

AbstractBackgroundLifelong management of phenylketonuria (PKU) centers on medical nutrition therapy, including dietary phenylalanine (Phe) restriction in addition to Phe-free or low-Phe medical foods/protein substitutes. Studies have reported low bone mineral density (BMD) in mixed-age PKU populations, possibly related to long-term Phe restriction. Therefore, a meta-analysis investigating BMD specifically in adults with PKU was conducted.MethodsStudies reporting BMD-related outcomes were identified from a systematic literature review evaluating somatic comorbidities experienced by adults with PKU on a Phe-restricted diet (searched February 1, 2022, updated November 1, 2023). Risk of study bias was assessed (Scottish Intercollegiate Guidelines Network checklists). The primary outcome of the meta-analysis was pooled mean BMD Z-scores of different bones. Secondary outcomes were the prevalence of low BMD Z-scores at pre-specified thresholds. Subgroup analyses of mean BMD Z-scores (decade of study publication, controlled versus uncontrolled blood Phe levels, gender) were conducted.ResultsBMD-related data from 4097 individuals across 10 studies rated as at least acceptable quality were included. Mean BMD Z-scores were statistically significantly lower compared with an age-matched control or reference (non-PKU) population, across bones, but still within the expected range for age (> -2.0): lumbar spine (seven studies,n = 304), -0.63 (95% confidence interval (CI): -0.74, -0.52); femoral neck (four studies,n = 170), -0.74 (95% CI: -1.25, -0.22); radius (three studies,n = 114), -0.77 (95% CI: -1.21, -0.32); total body (four studies,n = 157), -0.61 (95% CI: -0.77, -0.45). The small number of observations in the subgroup analyses resulted in a high degree of uncertainty, limiting interpretation. Estimated prevalence of BMD Z-scores ≤ -2.0 was 8% (95% CI: 5%, 13%; four studies,n = 221) and < -1.0 was 42% (95% CI: 35%, 51%; five studies,n = 144).ConclusionsAdults with PKU had lower BMD Z-scores than the reference (non-PKU) population but < 1 in 10 were below the expected range for age. The low number of studies prevents identification of which population characteristics are most impacting BMD.This meta-analysis was supported by BioMarin Pharmaceutical Inc., Novato, CA and is registered with the Research Registry (reviewregistry1476).
Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases
Authors: Wang Yinan , Li Nuoya , Zhang Songyun 
Published: September 2024

AbstractPorphyria is a group of rare metabolic disorders caused by mutations in the genes encoding crucial enzymes in the heme biosynthetic pathway. However, the lack of comprehensive genetic analysis of porphyria patients in the Chinese population makes identifying and diagnosing carriers of the condition challenging. Using the ChinaMAP database, we determined the frequencies of P/LP porphyria-associated gene variants according to the ACMG guidelines. We also calculated the carrier rates and prevalence of each type of porphyria in the Chinese population under Hardy–Weinberg equilibrium. Compared with the variants in the gnomAD database, the genetic spectrum of porphyria-related P/LP variants in the Chinese population is distinct. In the ChinaMAP database, we identified 23 variants. We estimated the carrier rates for autosomal dominant porphyrias (AIP, HCP, VP, PCT) in the Chinese population to be 1/1059, 1/1513, 1/10588, and 1/1765, respectively. For autosomal recessive porphyrias (ADP, EPP, HEP, CEP), the estimated carrier rates were 1/5294, 1/2117, 1/1765, and 1/2647, respectively, with predicted prevalence rates of 8.92 × 10−9, 7.51 × 10−5, 8.02 × 10−8, and 3.57 × 10−8, respectively. Notably, 12 of the variants we identified were unique to the Chinese population. The predicted prevalence rate of EPP was the highest among the various types of porphyria in the Chinese population, while the others were moderate to low. This is the first comprehensive genetic study on porphyria in the Chinese population. Clarifying the genetic characteristics of various porphyria types among the Chinese population provides scientifically sound reference data for both research and genetic screening to identify porphyria carriers.
Prevalence of hearing loss in pseudohypoparathyroidism
Authors: Djian Cassandre , Berkenou Jugurtha , Rothenbuhler Anya , Botton Jérémie , Linglart Agnès , Nevoux Jérôme 
Published: September 2024

Abstract
Background
The main clinical features of pseudohypoparathyroidism (PHP)/inactivating parathyroid hormone/parathyroid hormone-related protein signaling disorders (iPPSD), including parathyroid hormone (PTH) resistance, brachydactyly and short stature, develop during middle and late childhood. Very few studies have addressed hearing loss in PHP/iPPSD patients, and these studies have yielded widely divergent conclusions. The aim of our study was to assess hearing and determine the predictive factors of hearing loss in patients with PHP/iPPSD.

Methods
Our retrospective cohort study was conducted between March 2019 and May 2020 in the Otolaryngology Department and the calcium phosphate reference center for rare diseases in Bicêtre Paris-Saclay Hospital, France. We retrospectively collected data from patients with PHP/iPPSDs (age, sex, genetic mutations, height, body mass index (BMI), PTH resistance, presence or absence of ectopic ossifications and brachydactyly). All patients underwent auditory investigations, including tonal and vocal audiometry. The primary outcome was the pure tone average (PTA). The PTA was compared with the norm according to the International Organization for Standardization. Hearing loss was defined as a PTA ≥ 20 db.

Results
The median age of the patients was 15.6 years [9.5, 28.5]. Thirty-six patients were diagnosed with iPPSD2, and eight were diagnosed with iPPSD3. Twenty-six of them (59%) were female. Hearing impairment was confirmed in 17 patients (39%). The mean PTA and the mean SRT of the deaf ears were 40 ± 26 db and 31 ± 14 db. The mean difference in the PTA between the patients and the normal controls was 11.4 db (p = 0.00002). Short stature and the presence of ectopic ossifications were two significant predictive factors of hearing loss (p = 0.009 and p = 0.03, respectively). Sex, BMI, PTH resistance, mutation category and brachydactyly were not associated with an increased risk of hearing loss (p = 0.19, p = 0.41, p = 0.13, p = 0.50, p = 0.19, respectively).

Conclusion
Our study confirmed the frequency of hearing loss in patients with PHP/iPPSD disease (prevalence = 39%). A diagnosis of PHP/iPPSD should trigger auditory investigations and follow-up, especially when short stature and/or ectopic ossifications are present.
Development, evaluation and comparison of machine learning algorithms for predicting in-hospital patient charges for congestive heart failure exacerbations, chronic obstructive pulmonary disease exacerbations and diabetic ketoacidosis
Authors: Arnold Monique , Liou Lathan , Boland Mary Regina 
Published: September 2024

Abstract
Background
Hospitalizations for exacerbations of congestive heart failure (CHF), chronic obstructive pulmonary disease (COPD) and diabetic ketoacidosis (DKA) are costly in the United States. The purpose of this study was to predict in-hospital charges for each condition using machine learning (ML) models.

Results
We conducted a retrospective cohort study on national discharge records of hospitalized adult patients from January 1st, 2016, to December 31st, 2019. We constructed six ML models (linear regression, ridge regression, support vector machine, random forest, gradient boosting and extreme gradient boosting) to predict total in-hospital cost for admission for each condition. Our models had good predictive performance, with testing R-squared values of 0.701-0.750 (mean of 0.713) for CHF; 0.694-0.724 (mean 0.709) for COPD; and 0.615-0.729 (mean 0.694) for DKA. We identified important key features driving costs, including patient age, length of stay, number of procedures, and elective/nonelective admission.

Conclusions
ML methods may be used to accurately predict costs and identify drivers of high cost for COPD exacerbations, CHF exacerbations and DKA. Overall, our findings may inform future studies that seek to decrease the underlying high patient costs for these conditions.
TRPM4 inhibition slows neuritogenesis progression of cortical neurons
Authors: Riquelme Denise , Juanchuto-Viertel Nicole , Álamos Carlos , Leiva-Salcedo Elias 
Published: September 2024

AbstractTRPM4 is a non-selective cation channel activated by intracellular Ca2+ but only permeable to monovalent cations, its activation regulates membrane potential and intracellular calcium. This channel participates in the migration and adhesion of non-excitable cells and forms an integral part of the focal adhesion complex. In neurons, TRPM4 expression starts before birth and its function at this stage is not clear, but it may function in processes such as neurite development. Here we investigate the role of TRPM4 in neuritogenesis. We found that neurons at DIV 0 express TRPM4, the inhibition of TRPM4 using 9-Ph reduces neurite number and slows the progression of neurite development, keeping neurons in stage 1. The genetic suppression of TRPM4 using an shRNA at later stages (DIV2) reduces neurite length. Conversely, at DIV 0, TRPM4 inhibition augments the Cch-induced Ca2 + i increase, altering the calcium homeostasis. Together, these results show that TRPM4 participates in progression of neurite development and suggest a critical role of the calcium modulation during this stage of neuronal development.
Development of the Better Research Interactions for Every Family (BRIEF) intervention to support recruitment for neonatal clinical trials: an intervention mapping guided approach
Authors: Weiss Elliott Mark , Gray Megan M. , Ko Linda K. , Duenas Devan M. , Oslin Ellie , Kraft Stephanie A. 
Published: September 2024

Abstract
Background
Recruitment for neonatal clinical trials can be particularly challenging. Low enrollment rates bias the research population and decrease generalizability of findings. We identified a critical need for an intervention to improve how researchers recruit for neonatal clinical trials. Working within the US neonatal research context, we developed the Better Research Interactions for Every Family (BRIEF) Intervention, which had two overarching goals: to improve the recruitment experience for all parents, focusing on minoritized populations, and to increase participation, focusing on decreasing disparities in research participation.

Methods
We used intervention mapping (IM) to guide all steps of intervention development. IM is a planning framework that provides a systematic process and detailed protocol for step-by-step decision-making for intervention development, implementation, and evaluation.

Results
We performed IM’s six steps. In step 1, we convened two stakeholder groups, a parent panel and an expert panel, who provided guidance through development of all BRIEF components. Through a recent systematic review, empirical data collected by our team, and consultations with the panels, we identified key determinants (barriers and facilitators) of low enrollment rates and research team members as change agents. In step 2, we iteratively refined our list of key factors to include and linked determinants of behavior changes to these performance objectives. In step 3, we chose three theories (social cognitive theory, theory of information processing, and the trans-theoretical model), methods from identified practical applications suitable for the population (research team members) and the context (busy research NICU teams). In step 4, we developed and refined the intervention components, including self-guided pre-work and a single in-person session. In step 5, we identified the Darbepoetin plus slow-release intravenous iron trial as our partner study in which to pilot BRIEF. In step 6, we developed a multi-stage evaluation plan that included five distinct levels of outcomes.

Conclusions
This manuscript shares our rationale and processes for the creation of a research team member-facing intervention aiming to improve recruitment processes for neonatal clinical trials. Our approach can inform those aiming to improve recruitment for neonatal clinical trials and those who may be considering use of IM within similar contexts.