Phenomics (Cham, Switzerland)最新文献

{"title":"Impacts of Behavioral Compliance on Weight-Loss and Metabolic Profile in a Smartphone App-Based Lifestyle Intervention or Plus Dietitian Supporting: A Randomized and Controlled Trial Among Chinese.","authors":"Xue Li, Ling Lu, Liang Sun, Yunxia Xie, Kang Huang, Changzheng Yuan, Liying Chen, Xu Lin","doi":"10.1007/s43657-024-00162-0","DOIUrl":"10.1007/s43657-024-00162-0","url":null,"abstract":"<p><p>Mobile health technologies provided innovative solutions for lifestyle interventions and offered reliable methods to evaluate behavioral phenotypes during such interventions. To systematically quantify the impacts of behavioral compliance on weight-loss and metabolic profiles during lifestyle intervention, a total of 395 Chinese adults with overweight/obesity (BMI ≥ 24 kg/m²) or central obesity (waistline ≥ 90 cm for men or ≥ 80 cm for women) were randomly assigned to a smartphone app-based arm (SAA, n = 197) or smartphone app plus dietitian arm (SADA, n = 198) for 6 months. Compliance scores (0-5) were determined based on fulfilling five behavioral tasks: completing online courses, wearing a smart band, and recording weight, food intake, and blood pressure. SADA had greater weight-loss (- 4.94% vs. - 2.28%, <i>p</i> < 0.001) and lower triglyceride, but higher HDL-C levels (both <i>p</i> < 0.05) than SAA after six months. Between-group weight-loss differences were attenuated at compliance scores ≥ 3 (SADA: - 6.30% vs. SAA: - 4.79%, <i>p</i> = 0.07). Mediation analysis suggested that compliance scores explained approximately 30% of the additional weight loss in the SADA (<i>p</i> < 0.001), and self-weighing was the primary mediator (<i>p</i> < 0.05). Higher educational levels, greater initial weight loss, self-perceived simplicity, and satisfaction with the program were potential determinants of intervention compliance. Overall, the superior weight loss and metabolic improvements in the SADA group could be mediated by behavioral compliance, which was possibly influenced by some demographic and intervention response features. Our findings highlighted the roles of behavioral phenotypes and adherence in app-based lifestyle interventions, and added evidence for the future development of more precise strategies in long-term weight management.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s43657-024-00162-0.</p>","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"5 2","pages":"154-168"},"PeriodicalIF":3.7,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12209060/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144556112","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cell Function Experiments and Bioinformatics Analysis Jointly Revealed the Antineoplastic Effect of Lumican on Hepatocellular Carcinoma.","authors":"Xiaoyu Zhou, Zixuan Xing, Ruijun Dong, Xi Zhang, Xuefeng Liang, Zhengyang Lu, Ganghua Yang","doi":"10.1007/s43657-024-00182-w","DOIUrl":"10.1007/s43657-024-00182-w","url":null,"abstract":"<p><p>Hepatocellular carcinoma (HCC) is one of the most common cancers worldwide, and immune checkpoint inhibitor (ICI)-based therapies are now an integral part of systemic treatment. In this study, we identify potential biomarker for HCC and further investigate its functional significance using both bioinformatic and experimental methods. Differential analysis and weighted gene co-expression network analysis (WGCNA) were conducted, identifying <i>lumican</i> (<i>LUM</i>) as the target gene. Our results showed a significant downregulation of <i>LUM</i> in HCC. <i>LUM</i> expression was also associated with the progression-free interval and the infiltration of B cells, neutrophils, and myeloid dendritic cells. Enrichment analysis highlighted the involvement of <i>LUM</i> in focal adhesion and the extracellular matrix. In addition, overexpression of <i>LUM</i> suppressed proliferation, migration and invasion in hepatoma cell lines while promoting cell apoptosis. Our results demonstrate the importance of <i>LUM</i> in HCC development and may help to elucidate the underlying mechanisms and biological processes influenced by <i>LUM</i>.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s43657-024-00182-w.</p>","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"5 3","pages":"252-269"},"PeriodicalIF":6.2,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12391580/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144981698","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Characteristics of the Corneal Endothelium in Elderly Adults with High Myopia.","authors":"Yinglei Zhang, Shaohua Zhang, Keke Zhang, Yi Lu, Xiangjia Zhu","doi":"10.1007/s43657-024-00186-6","DOIUrl":"10.1007/s43657-024-00186-6","url":null,"abstract":"<p><p>This cross-sectional study aimed to investigate the corneal endothelial characteristics in elderly individuals with high myopia. We assessed corneal endothelial characteristics in 1065 eyes of 1065 elderly patients (549 highly myopic and 516 control eyes) using non-contact specular microscopy. Confirmation of suspected Fuchs endothelial corneal dystrophy (FECD) was performed with slit-lamp and confocal microscopy. Highly myopic eyes exhibited significantly greater central endothelial cell density (ECD) and coefficient of variation (CV) (<i>p</i> = 0.001 and <i>p</i> = 0.002, respectively), and lower average cell area (AVG) and percent of hexagonality (HEX) (<i>p</i> = 0.014 and <i>p</i> < 0.001, respectively) compared to control eyes. After adjusting for age and gender, axial length (AL) was positively correlated with ECD and CV (<i>r</i> = 0.130, <i>p</i> < 0.001 and <i>r</i> = 0.113, <i>p</i> < 0.001, respectively), and was negatively correlated with AVG and HEX (<i>r</i> = - 0.105, <i>p</i> = 0.001 and <i>r</i> = - 0.204, <i>p</i> < 0.001, respectively). FECD prevalence was 4.92% in highly myopic eyes and 3.29% in controls, with more advanced cases in highly myopic eyes (<i>p</i> = 0.036). In conclusion, longer AL was associated with increased corneal ECD, and greater endothelial pleomorphism and polymegethism in elderly patients. Highly myopic eyes appeared to have higher prevalence and severity of FECD. The study was registered on www.clinicaltrials.gov on February 26, 2017, with the registration number NCT03062085.</p>","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"4 6","pages":"562-569"},"PeriodicalIF":6.2,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11889312/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143588564","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Amyotrophic Lateral Sclerosis and Risk of Common Cancer: Mendelian Randomization Interrogation of Causality and Mediation.","authors":"Xiaoxue Tan, Gaifen Liu, Xiangnan Li, Fan Zhong, Zhixi Su, Haijian Wang","doi":"10.1007/s43657-024-00159-9","DOIUrl":"10.1007/s43657-024-00159-9","url":null,"abstract":"<p><p>Compared with the well-documented inverse comorbidity of common neurodegenerative diseases with some types of cancer, the association of amyotrophic lateral sclerosis (ALS) with cancer was obscure. This Mendelian randomization (MR) analysis was aimed to appraise the causal relationship of ALS with cancer. Leveraging summary statistics of genome-wide association study (GWAS) for ALS, overall-cancer and nine types of site-specific common solid cancer including colorectal cancer (CRC) in populations of European (discovery and replication) and East Asian ancestry, we investigated the causal association of ALS with cancer using inverse-variance weighted (IVW) method and complementary sensitivity analyses. We performed MR-based mediation analysis to assess possible role of serum lipid traits such as hyperlipidemia, one shared risk factor of ALS and CRC, in their causal association. We found that genetically-predicted ALS was not associated with overall-cancer and other tested types of cancer, but was causally associated with reduced risk of CRC [odds ratio (OR) 0.84; 95% confidence interval (95% CI) 0.74-0.96; <i>p</i> = 0.011, OR 0.32; 95% CI 0.15-0.69; <i>p</i> = 0.004, in datasets of European (discovery) and East Asian ancestry respectively]. We observed absences of directional pleiotropy (MR Egger, intercept = -0.02 and -0.02, <i>p</i> = 0.49 and 0.60), instrumental outlier (MR-PRESSO, <i>p</i> = 0.95 and 0.84) or heterogeneity (Cochran <i>Q</i>, <i>p</i> = 0.95 and 0.82). Null reverse causality of CRC with ALS was found in either datasets. However, we found no evidence of the inverse association of ALS with CRC in either the replication (OR 0.99; 95% CI 0.93-1.06) or the combined European datasets (OR 0.92; 95% CI 0.79-1.09). Mediation analysis in European datasets suggested that hyperlipidemia may affect the risk of CRC via ALS in an indirect manner, with the measured mediation effect of hyperlipidemia on CRC being -0.02 (95% CI -0.04 to -0.002, <i>p</i> = 0.03). Our two-sample MR study in <i>trans</i>-ethnic populations uncovered that genetically proxied ALS may be causally associated with reduced risk of CRC, providing new insight into the inverse comorbidity and etiological causality of neurodegenerative disease and cancer.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s43657-024-00159-9.</p>","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"5 3","pages":"270-283"},"PeriodicalIF":6.2,"publicationDate":"2025-01-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12390901/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144981667","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Newly Identified Genes Linked to Tetralogy of Fallot.","authors":"Ying Liu, Weinian Shou","doi":"10.1007/s43657-024-00203-8","DOIUrl":"10.1007/s43657-024-00203-8","url":null,"abstract":"","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"4 6","pages":"633-634"},"PeriodicalIF":6.2,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11889324/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143588612","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>MST1R</i> Gene Variants Predispose Individuals to Tetralogy of Fallot.","authors":"Zhiyu Feng, Xianghui Huang, Yuan Gao, Han Gao, Weilan Na, Chaozhong Tan, Shaojie Min, Yuquan Lu, Quannan Zhuang, Siyi Lin, Xiaojing Ma, Weicheng Chen, Weili Yan, Wei Sheng, Guoying Huang","doi":"10.1007/s43657-024-00175-9","DOIUrl":"10.1007/s43657-024-00175-9","url":null,"abstract":"<p><p>Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart malformation. While a few susceptibility genes for TOF have been identified, research on the genetic basis of TOF is limited. The <i>Macrophage stimulating 1 receptor</i> (<i>MST1R</i>) gene encodes the macrophage-stimulating protein receptor with tyrosine phosphatase activity that is involved in immune defense. In this study, we performed whole-exome sequencing (WES) on 10 TOF families and 50 sporadic TOF patients and identified a recessive homozygous missense mutation in <i>MST1R</i>, c.T2009G: p.V670G, in two offspring with TOF in a single family. Targeted sequencing of the <i>MST1R</i> gene showed enrichment for rare variants in 417 TOF patients compared with East Asians in Genome Aggregation Database Version 2 (gnomADv2_EAS). <i>MST1R</i>-deficient human induced pluripotent stem cells (hiPSCs) maintained normal pluripotency but differentiated into non-functional cardiomyocytes (CMs). Taken together, our findings indicate that <i>MST1R</i> may play a critical role in cardiac differentiation and genetic variations in <i>MST1R</i> may be associated with the pathogenesis of TOF.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s43657-024-00175-9.</p>","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"4 6","pages":"548-561"},"PeriodicalIF":3.7,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11889330/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143588502","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Brain Imaging and Phenotyping for the China Phenobank Project.","authors":"Wenjia Bai","doi":"10.1007/s43657-024-00197-3","DOIUrl":"10.1007/s43657-024-00197-3","url":null,"abstract":"","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"4 6","pages":"592-593"},"PeriodicalIF":6.2,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11889274/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143588448","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Protocol for Simultaneous EEG and fNIRS Measurement in Characterizing Brain State.","authors":"Ligang Zhou, Fang Xiao, Ning Shen, Yalin Wang, Jinbu Tang, Jingchun Luo, Wei Chen, Chen Chen","doi":"10.1007/s43657-023-00148-4","DOIUrl":"10.1007/s43657-023-00148-4","url":null,"abstract":"<p><p>Multi-modal signal measurement is widely used in health monitoring and disease recognition, such as electroencephalography (EEG)-functional magnetic resonance imaging (fMRI), EEG-functional near-infrared spectroscopy (fNIRS), EEG-electrocardiograph (ECG), etc. The concurrent recording of EEG-fNIRS not only measures concentration changes of oxyhemoglobin (HbO₂) and deoxyhemoglobin (HbR) of the cortical microcirculation blood vessels but also records electrical activities of the cerebral cortex in a relatively portable setting compared with EEG-fMRI and other patterns. This protocol proposes a standard operating procedure for the joint EEG-fNIRS measurement, including electrode placement, hardware, and software. In the signal process, artifacts' removal, EEG-fNIRS phenotypes extraction by software and self-developed algorithm ways, and data storage are involved. In addition, solutions to problems that may be encountered in this protocol are also presented. This protocol is expected to broaden the application of joint EEG-fNIRS measurement and gain a deeper understanding of the underlying neural activation pattern and mechanism of the brain.</p>","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"5 2","pages":"219-237"},"PeriodicalIF":6.2,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12209161/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144556116","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Novel Heterozygous <i>IHH</i> c.331_333del Mutation Identified in a Fetus with Brachydactyly Type A1 Causes IHH Protein Maturation Failure in HEK293T Cells.","authors":"Ting Zhu, Lijie Guan, Dan Chen, Yi Luo, Mianmian Zhu, Rongyue Sun, Jiamin Shi, Qiu Wang, Yuan Chen, Yihong Wang, Hongwei Wang, Zhongqiu Lu, Dan Wang","doi":"10.1007/s43657-024-00191-9","DOIUrl":"10.1007/s43657-024-00191-9","url":null,"abstract":"<p><p>Brachydactyly A1 (BDA1) is a rare disorder characterized by the disproportionate shortening of fingers and/or toes with or without symphalangism. Mutations in <i>Indian hedgehog signaling molecule</i> (<i>IHH</i>), which impair the effect of functional IHH protein derived from its precursor IHH, are commonly identified in patients with BDA1 or acrocapitofemoral dysplasia (ACFD). The ultrasound phenotype of fetuses with <i>IHH</i> mutations has rarely been described. To better understand the consequences of <i>IHH</i> mutation, we analyzed the characteristics of a Chinese fetus with BDA1 caused by a novel heterozygous <i>IHH</i> mutation. Clinical data and genomic DNA were collected from the proband and family members. Whole-exome sequencing (WES) was performed to identify potential causative mutations. Sequence analysis was performed to investigate the conservation of the affected leucine residue in IHH. Protein 3D modeling was performed to predict the effects of the mutation on protein structure. In vitro overexpression transfection experiments in human embryonic kidney 293T (HEK293T) cell lines were performed to evaluate the pathogenicity of the identified mutation. The fetal proband carried a novel heterozygous mutation in <i>IHH</i> (NM_002181.4: c.331_333delCTG, NP_002172.2: p.Leu111del) inherited from the father; this mutation manifested as shortening of the limbs, with more severe shortening observed in the proximal extremities than in the distal extremities, as evidenced by ultrasound. The Leu111 residue is highly conserved among vertebrates, and deletion of this residue destabilizes the protein structure. Western blotting analysis of HEK293T cells in overexpression transfection experiments revealed that the Leu111del mutation led to an increase in the level of the IHH precursor and a reduction in the level of functional IHH protein compared with those in HEK293T cells expressing wild-type IHH, indicating that this mutation might cause IHH protein dysmaturity. The novel heterozygous mutation c.331_333delCTG (p.Leu111del) in the <i>IHH</i> gene is the likely cause of BDA1 in this Chinese fetus. This mutation causes IHH protein maturation failure. These findings contribute to our understanding of the molecular pathogenesis of BDA1 and the clinical identification of fetal BDA1.</p>","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"5 2","pages":"123-136"},"PeriodicalIF":3.7,"publicationDate":"2024-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12209099/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144556108","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Improved prediction of swimming talent through random forest analysis of anthropometric and physiological phenotypes.","authors":"Cheng Liu, Bingxiang Xu, Kang Wan, Qin Sun, Ruwen Wang, Yue Feng, Hui Shao, Tiemin Liu, Ru Wang","doi":"10.1007/s43657-024-00176-8","DOIUrl":"10.1007/s43657-024-00176-8","url":null,"abstract":"<p><p>The field of competitive swimming lacks broadly applicable predictive models for talent identification across various age groups of adolescent swimmers. This study aimed to construct a predictive model for athletic talent using machine learning methods based on anthropometric and physiological data. Baseline data were collected from 5444 participants aged 10-18 in Shanghai, China, between 2015 and 2018, with 4969 completing a 3-year follow-up. Talents were discerned based on their performance over the follow-up period, revealing age- and sex- dependent developmental differences between swimmers classified as talented versus non-talented. After controlling for confounding variables, age and sex, nine machine learning algorithms were employed, with Random Forest achieving the highest performance and being selected as the final model. The model demonstrated excellent predictive performance on both the test dataset and an independent validation dataset from Shandong (<i>n</i> = 118), indicating its strong generalizability. Furthermore, using the SHapley Additive exPlanations (SHAP) method to interpret the model, abdominal skinfold, lung capacity, chest circumference, shoulder width, and triceps skinfold were identified as the five most critical indicators for talent identification.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s43657-024-00176-8.</p>","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"4 5","pages":"465-472"},"PeriodicalIF":6.2,"publicationDate":"2024-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11666874/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142900993","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}