bluuebunny/crossref_metadata_2025_split huggingface dataset:
A mitochondria-related genes associated neuroblastoma signature - based on bulk and single-cell transcriptome sequencing data analysis, and experimental validation
Authors: Wang Chaoyu , Tan Jiaxiong , Jin Yan , Li Zongyang , Yang Jiaxing , Jia Yubin , Xia Yuren , Gong Baocheng , Dong Qiuping , Zhao Qiang 
Published: June 2024

BackgroundNeuroblastoma (NB), characterized by its marked heterogeneity, is the most common extracranial solid tumor in children. The status and functionality of mitochondria are crucial in regulating NB cell behavior. While the significance of mitochondria-related genes (MRGs) in NB is still missing in key knowledge.Materials and methodsThis study leverages consensus clustering and machine learning algorithms to construct and validate an MRGs-related signature in NB. Single-cell data analysis and experimental validation were employed to characterize the pivotal role of FEN1 within NB cells.ResultsMRGs facilitated the classification of NB patients into 2 distinct clusters with considerable differences. The constructed MRGs-related signature and its quantitative indicators, mtScore and mtRisk, effectively characterize the MRGs-related patient clusters. Notably, the MRGs-related signature outperformed MYCN in predicting NB patient prognosis and was adept at representing the tumor microenvironment (TME), tumor cell stemness, and sensitivity to the chemotherapeutic agents Cisplatin, Topotecan, and Irinotecan. FEN1, identified as the most contributory gene within the MRGs-related signature, was found to play a crucial role in the communication between NB cells and the TME, and in the developmental trajectory of NB cells. Experimental validations confirmed FEN1’s significant influence on NB cell proliferation, apoptosis, cell cycle, and invasiveness.ConclusionThe MRGs-related signature developed in this study offers a novel predictive tool for assessing NB patient prognosis, immune infiltration, stemness, and chemotherapeutic sensitivity. Our findings unveil the critical function of FEN1 in NB, suggesting its potential as a therapeutic target.
The role of GPD1L, a sodium channel interacting gene, in the pathogenesis of Brugada Syndrome
Authors: Greiner Alexander M. , Mehdi Haider , Cevan Chloe , Gutmann Rebecca , London Barry 
Published: June 2024

BackgroundBrugada Syndrome (BrS) is an inherited arrhythmia syndrome in which mutations in the cardiac sodium channel SCN5A (NaV1.5) account for approximately 20% of cases. Mutations in sodium channel-modifying genes may account for additional BrS cases, though BrS may be polygenic given common SNPs associated with BrS have been identified. Recent analysis, however, has suggested that SCN5A should be regarded as the sole monogenic cause of BrS.ObjectiveWe sought to re-assess the genetic underpinnings of BrS in a large mutligenerational family with a putative mutation in GPD1L that affects surface membrane expression of NaV1.5 in vitro.MethodsFine linkage mapping was performed in the family using the Illumina Global Screening Array. Whole exome sequencing of the proband was performed to identify rare variants and mutations, and Sanger sequencing was used to assay previously-reported risk single nucleotide polymorphsims (SNPs) for BrS.ResultsLinkage analysis decreased the size of the previously-reported microsatellite linkage region to approximately 3 Mb. GPD1L-A280V was the only coding non-synonymous variation present at less than 1% allele frequency in the proband within the linkage region. No rare non-synonymous variants were present outside the linkage area in affected individuals in genes associated with BrS. Risk SNPs known to predispose to BrS were overrepresented in affected members of the family.ConclusionTogether, our data suggest GPD1L-A280V remains the most likely cause of BrS in this large multigenerational family. While care should be taken in interpreting variant pathogenicity given the genetic uncertainty of BrS, our data support inclusion of other putative BrS genes in clinical genetic panels.
The ratio of alanine aminotransferase to high-density lipoprotein cholesterol is positively correlated with the insulin resistance in American adults: a population-based cohort study
Authors: Zhou Xinhe , Xu Jing , Dai Huifang 
Published: June 2024

IntroductionPrevious studies have demonstrated a correlation between the ratio of alanine aminotransferase to high-density lipoprotein cholesterol (ALT/HDL-C) in the serum and the risk of diabetes. However, no existing study has investigated the association between insulin resistance (IR) and ALT/HDL-C. Therefore, this study aims to explore the association between ALT/HDL-C and IR in American adults.MethodsA total of 7,599 adults selected from the National Health and Nutrition Examination Survey (NHANES) in 2013 to 2020 were studied. IR was assessed based on the homeostatic model assessment of insulin resistance (HOMA-IR). And the association between IR and ALT/HDL-C was assessed through multiple logistic regression, generalized smooth curve fitting and subgroup analyses.ResultsMultiple logistic regression analysis indicated a significant correlation between IR and ALT/HDL-C, with odds ratios (OR) of 1.04 (95% CI = 1.02–1.05) in males and 1.04 (95% CI = 1.02–1.07) in females. A non-linear association and saturation effect between ALT/HDL-C and IR risk were identified, with an inverted L shaped curve and an inflection point at 33.62. The area under the ROC curve (AUC) of ALT/HDL-C was significantly larger (AUC = 0.725 for males and 0.696 for females, all p &lt; 0.01) compared with the use of ALT, HDL-C, AST and AST/ALT. Subgroup analysis showed a significantly higher independent association in obese individuals and individuals aged ≥50 years (All P interaction &lt;0.05).ConclusionElevated ALT/HDL-C demonstrates a significant correlation with IR, which can be used as a potential indicator of IR in American adults.
Morphological characteristics of cerebellum, pons and thalamus in Reccurent isolated sleep paralysis – A pilot study
Authors: Miletínová Eva , Kliková Monika , Dostalíková Amálie , Bušková Jitka 
Published: June 2024

IntroductionRecurrent isolated sleep paralysis (RISP) is a rapid eye movement sleep (REM) parasomnia, characterized by the loss of voluntary movements upon sleep onset and/or awakening with preserved consciousness. Evidence suggests microstructural changes of sleep in RISP, although the mechanism of this difference has not been clarified yet. Our research aims to identify potential morphological changes in the brain that can reflect these regulations.Materials and methodsWe recruited 10 participants with RISP (8 women; mean age 24.7 years; SD 2.4) and 10 healthy control subjects (w/o RISP; 3 women; mean age 26.3 years; SD 3.7). They underwent video-polysomnography (vPSG) and sleep macrostructure was analyzed. After that participants underwent magnetic resonance imaging (MRI) of the brain. We focused on 2-dimensional measurements of cerebellum, pons and thalamus. Statistical analysis was done in SPSS program. After analysis for normality we performed Mann–Whitney U test to compare our data.ResultsWe did not find any statistically significant difference in sleep macrostructure between patients with and w/o RISP. No evidence of other sleep disturbances was found. 2-dimensional MRI measurements revealed statistically significant increase in cerebellar vermis height (p = 0.044) and antero-posterior diameter of midbrain-pons junction (p = 0.018) in RISP compared to w/o RISP.DiscussionOur results suggest increase in size of cerebellum and midbrain-pons junction in RISP. This enlargement could be a sign of an over-compensatory mechanism to otherwise dysfunctional regulatory pathways. Further research should be done to measure these differences in time and with closer respect to the frequency of RISP episodes.
A prognostic model incorporating the albumin-corrected anion gap in patients with aneurysmal subarachnoid hemorrhage
Authors: Wang Ruoran , Rong Juan , Xu Jianguo , He Min 
Published: June 2024

BackgroundAneurysmal subarachnoid hemorrhage (aSAH) patients typically have poor prognoses. The anion gap (AG) has been proven to correlate with mortality in various critically ill patients. However, hypoalbuminemia can lead to underestimations of the true anion gap levels. This study was conducted to verify the prognostic value of single AG and albumin-corrected anion gap (ACAG) among aSAH patients.MethodsSignificant factors in the univariate logistic regression analysis were included in the multivariate logistic regression analysis to explore the risk factors for mortality in aSAH patients and to confirm the independent relationship between ACAG and mortality. The restricted cubic spline (RCS) was used to visually show the relationship between ACAG level and mortality risk of aSAH patients. The predictive model for mortality was developed by incorporating significant factors into the multivariate logistic regression analysis. The prognostic value of ACAG and the developed model was evaluated by calculating the area under the receiver operating characteristics curve (AUC).ResultsAmong 710 aSAH patients, a 30-day mortality was observed in 20.3% of the cases. A positive relationship was demonstrated between the ACAG level and mortality in aSAH patients using the RCS curve. The multivariate logistic regression analysis helped discover that only six factors were finally and independently related to mortality of aSAH patients after adjusting for confounding effects, including the Hunt–Hess scale score (p = 0.006), surgical options (p &lt; 0.001), white blood cell count (p &lt; 0.001), serum chloride levels (p = 0.023), ACAG (p = 0.039), and delayed cerebral ischemia (p &lt; 0.001). The AUC values for the AG, albumin, and ACAG in predicting mortality among aSAH patients were 0.606, 0.536, and 0.617, respectively. A logistic regression model, which includes the Hunt–Hess scale score, surgical options, white blood cell count, serum chloride levels, ACAG, and delayed cerebral ischemia, achieved an AUC of 0.911 for predicting mortality.ConclusionThe ACAG is an effective prognostic marker for aSAH patients. A prognostic model incorporating ACAG could help clinicians evaluate the risk of poor outcomes among aSAH patients, thereby facilitating the development of personalized therapeutic strategies.
Motor improvement of remote programming in patients with Parkinson's disease after deep brain stimulation: a 1-year follow-up
Authors: Wan Xiaonan , Duan Chengcheng , Lin Zhengyu , Zeng Zhitong , Zhang Chencheng , Li Dianyou 
Published: June 2024

BackgroundRemote programming (RP) is an emerging technology that enables the adjustment of implantable pulse generators (IPGs) via the Internet for people with Parkinson's disease (PwPD) who have undergone deep brain stimulation (DBS). Previous studies have not comprehensively explored the effectiveness of RP in managing motor symptoms, often omitting assessments such as the rigidity and retropulsion tests during the follow-up. This study evaluates the comprehensive improvements in motor performance and the potential cost benefits of RP for PwPD with DBS.MethodsA retrospective analysis was conducted on two groups of patients—those who received RP and those who received standard programming (SP). Clinical outcomes including motor improvement, quality of life, and daily levodopa dosage were compared between the groups during a 12 (± 3)-month in-clinic follow-up.ResultsA total of 44 patients were included in the study, with 18 in the RP group and 26 in the SP group. No significant differences were observed in the frequency of programming sessions or clinical outcomes between the groups (p &gt; 0.05). However, the RP group experienced significantly lower costs per programming session than the SP group (p &lt; 0.05), despite patients in the former group living further from our center (p &lt; 0.05).ConclusionsOur findings suggest that RP could significantly reduce the costs of programming for PwPD with DBS, especially without compromising the effectiveness of treatment across all motor symptoms in the short term.
Household- and community-level factors of zero vegetable or fruit consumption among children aged 6–23 months in East Africa
Authors: Endawkie Abel , Gedefie Alemu , Muche Amare , Mohammed Anissa , Ayres Aznamariam , Melak Dagnachew , Abeje Eyob Tilahun , Bayou Fekade Demeke , Belege Getaneh Fekadeselassie , Asmare Lakew 
Published: June 2024

IntroductionThe World Health Organization recommends that children aged 6–23 months should consume a diversified diet, including fruits and vegetables, during each meal. However, low consumption of fruits and vegetables contributes to 2.8% of child deaths globally. The literature review indicates limited research on factors that affect zero vegetable or fruit consumption among children aged 6–23 months in East Africa. Therefore, this study aimed to investigate the household- and community-level factors determining zero vegetable or fruit consumption among children aged 6–23 months in East Africa.MethodThe study analyzed cross-sectional secondary data from the recent rounds of demographic and health surveys conducted in East Africa from 2015 to 2023. The weighted sample comprised 113,279 children aged 6–23 months. A multilevel mixed-effect analysis was used, measuring the random variation between the clusters based on the intra-cluster correction coefficient, median odds ratio, and proportional change variance. Adjusted odds ratio with a 95% confidence interval was reported while considering variables having a p &lt; 0.05 as statistically significant.ResultsThe overall prevalence of zero vegetable or fruit consumption among children aged 6–23 months in East Africa was 52.3%, with Ethiopia showing the highest prevalence (85.9%). The factors associated with zero vegetable or fruit consumption were maternal educational level, number of household members, short birth interval, multiple births, sex of the household head, household wealth index, community-level maternal literacy, community-level wealth index, and countries.ConclusionConsidering the high overall prevalence of zero vegetable or fruit consumption among children aged 6–23 months in East Africa, overlooking this nutritional gap among children is a serious oversight. Therefore, efforts should be geared toward improving individual- and community-level maternal literacy. In particular, nutrition and public health organizations should support low-income communities to achieve vegetable or fruit consumption for infants and young children.
Association of soy intake and cooking methods with colorectal polyp and adenoma prevalence: findings from the extended Lanxi pre-colorectal cancer cohort (LP3C)
Authors: Zheng Weifang , Lin Xunan , Zhu Meng , Ye Hao , Hu Xiaodong , Liu Xiaohui , Hu Lixiang , Zheng Youyou , Hu Peiling , Zhuang Pan , Jiao Jingjing , Zhang Yu 
Published: June 2024

BackgroundLimited research has explored the association between dietary soy products and colorectal polyps and adenomas, with insufficient attention given to cooking methods and subtypes of polyps. This study aimed to comprehensively assess the relationship between soy intake, its cooking methods, and the risk of colorectal polyps and adenomas within a high-incidence population of colorectal cancer (CRC) in China.MethodsData were derived from 14,903 participants aged 40–80 years, enrolled in the extended Lanxi Pre-colorectal Cancer Cohort (LP3C) between March 2018 and December 2022. This cross-sectional study is based on the participants’ baseline information. Long-term dietary information was collected through a validated food frequency questionnaire (FFQ), and colorectal polyps and adenomas were identified through electronic colonoscopy. Employing multivariate logistic regression, results were expressed as odds ratios (ORs) with their corresponding 95% confidence intervals (95% CIs).Results4,942 cases of colorectal polyps and 2,678 cases of adenomas were ascertained. A significant positive association was found between total soy intake and the occurrence of polyps/adenomas. Considering cooking methods, a notable increase in polyp risk was associated with the consumption of fried soys while no association was detected for boiled or marinated soys. Furthermore, total soy intake demonstrated associations with large and multiple polyps, polyps Yamade-typed less than II, and polyps across all anatomical subsites.ConclusionWithin the high-risk CRC population in China, increased soy product intake was linked to a higher risk of polyps, primarily attributed to the consumption of fried soys. This suggests that modifying cooking methods to avoid fried soys may serve as a preventive strategy for colorectal polyps.
Dietary supplementation with a wild green oat extract (Avena sativa L.) to improve wellness and wellbeing during smoking reduction or cessation: a randomized double-blind controlled study
Authors: Friling Marina , García-Muñoz Ana María , Lavie Arava , Pérez-Piñero Silvia , Victoria-Montesinos Desirée , López-Román Francisco Javier , García-Guillén Ana Isabel , Muñoz-Carrillo Juan Carlos , Cánovas Fernando , Ivanir Eran , Jalanka Jonna 
Published: June 2024

ObjectiveSmoking reduction or cessation are critical public health goals, given the well-documented risks of tobacco use to health. Reducing smoking frequency and cessation entirely are challenging due to nicotine addiction and withdrawal symptoms, which can significantly affect mental wellness and overall wellbeing. Previous research has suggested that certain dietary supplements may support smoking cessation and reduction efforts by mitigating these adverse effects. The objective of this study was to assess the effect of supplementation with 900 mg/day of Neuravena®, a green oat extract (GOE) of Avena sativa L., in enhancing wellness and wellbeing during a smoking reduction or cessation experience.MethodsThis was an 8-week randomized, double-blind, placebo-controlled study, ClinicalTrials Identifier: NCT04749017 (https://classic.clinicaltrials.gov/ct2/show/NCT04749017). Participants were assigned to one of the study groups, 72 participants were assigned to GOE and 73 to placebo. The subjects were followed for 8-weeks intervention period as well as an additional 4-week follow-up period. At subsequent visits, they underwent clinical assessments including assessments of quality of life, perceived stress, depression, nicotine dependence, anxiety, cognitive performance, and specific assessments of craving intensity.ResultsGOE was associated with greater improvements in elements of the abbreviated World Health Organization Quality of Life (WHOQOL-BREF) questionnaire as compared with placebo. Similar results were obtained from the SF-36 questionnaire and a visual QoL analogue scale (VAS). Perceived stress levels showed greater decline from baseline among the GOE supplemented participants as compared to placebo. Sleep quality parameters improved with GOE supplementation and worsened in the placebo group. At the end of the intervention period, the percentage of successful reducers (defined as &gt;20% reduction in daily cigarettes) was higher in the GOE group as compared to placebo (66.7% vs. 49.3%, p = 0.034). The improvements from baseline in QoL measures in the GOE group persisted at 4 weeks after termination of the intervention.ConclusionGOE supplementation demonstrated greater improvements in quality of life measures, stress and sleep related parameters during a smoking reduction or cessation experience and the product was shown to be safe and well tolerated.
Association between the composite dietary antioxidant index and the prevalence and recurrence of kidney stones: results of a nationwide survey
Authors: Zhu Huan , Chen Yinmei , Feng Yue , Chen Hui 
Published: June 2024

AimThis study aims to evaluate the relationship between the Composite Dietary Antioxidant Index (CDAI) and the prevalence and recurrence of kidney stones.MethodsData from the National Health and Nutrition Examination Survey (NHANES) collected between 2007 and 2014 were used in this cross-sectional analysis. The CDAI was derived by standardizing the intake of dietary antioxidants from 24 h dietary recalls. The study assessed the prevalence and recurrence of kidney stones based on questionnaire responses. The association between the CDAI and both the prevalence and recurrence of kidney stones was investigated using multivariable logistic regression. Subgroup analyses and interaction tests further evaluated the robustness of this relationship.ResultsThe study included 20,743 participants, and the reported incidence and recurrence rates of kidney stones were 9.09 and 2.90%, respectively. After stratifying the CDAI into tertiles, an inverse trend was observed in both kidney stones’ prevalence and recurrence probabilities with increasing CDAI levels. Adjusting for confounding factors, individuals in the top tertile had a 23% lower prevalence of kidney stones (OR = 0.77, 95% CI: 0.66, 0.90, p = 0.0011) and a 39% lower recurrence rate (OR = 0.61, 95% CI: 0.47, 0.80, p = 0.0003) than those in the bottom tertile. In addition, interaction tests showed that age, gender, body mass index, hypertension, and diabetes did not significantly affect the relationship between CDAI levels and kidney stone prevalence and recurrence rates.ConclusionOur study suggests that increased levels of CDAI are associated with reduced incidence and recurrence rates of kidney stones. Therefore, increasing the intake of dietary antioxidants may be an effective strategy for preventing kidney stones and their recurrence.
Branched-chain amino acids and L-alanine supplementation ameliorate calcium dyshomeostasis in sarcopenia: New insights for nutritional interventions
Authors: Conte Elena , Mantuano Paola , Boccanegra Brigida , Imbrici Paola , Dinoi Giorgia , Lenti Roberta , Cappellari Ornella , Cappetta Donato , De Angelis Antonella , Berrino Liberato , Gordish-Dressman Heather , Bianchini Gianluca , Aramini Andrea , Allegretti Marcello , Liantonio Antonella , De Luca Annamaria 
Published: June 2024

Introduction: During aging, sarcopenia and decline in physiological processes lead to partial loss of muscle strength, atrophy, and increased fatigability. Muscle changes may be related to a reduced intake of essential amino acids playing a role in proteostasis. We have recently shown that branched-chain amino acid (BCAA) supplements improve atrophy and weakness in models of muscle disuse and aging. Considering the key roles that the alteration of Ca2+-related homeostasis and store-operated calcium entry (SOCE) play in several muscle dysfunctions, this study has been aimed at gaining insight into the potential ability of BCAA-based dietary formulations in aged mice on various players of Ca2+ dyshomeostasis.Methods: Seventeen-month-old male C57BL/6J mice received a 12-week supplementation with BCAAs alone or boosted with two equivalents of L-alanine (2-Ala) or with dipeptide L-alanyl-L-alanine (Di-Ala) in drinking water. Outcomes were evaluated on ex vivo skeletal muscles indices vs. adult 3-month-old male C57BL/6J mice.Results: Ca2+ imaging confirmed a decrease in SOCE and an increase of resting Ca2+ concentration in aged vs. adult mice without alteration in the canonical components of SOCE. Aged muscles vs. adult muscles were characterized by a decrease in the expression of ryanodine receptor 1 (RyR1), the Sarco-Endoplasmic Reticulum Calcium ATPase (SERCA) pump, and sarcalumenin together with an alteration of the expression of mitsugumin 29 and mitsugumin 53, two recently recognized players in the SOCE mechanism. BCAAs, particularly the formulation BCAAs+2-Ala, were able to ameliorate all these alterations.Discussion: These results provide evidence that Ca2+ homeostasis dysfunction plays a role in the functional deficit observed in aged muscle and supports the interest of dietary BCAA supplementation in counteracting sarcopenia-related SOCE dysregulation.