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Development and validation of a novel non-invasive test for diagnosing nonalcoholic fatty liver disease in Chinese children

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World Journal of Pediatrics 2024年第4期20卷 413-421页

作者： Zhe-Wen Qin Qian-Nan Ren Hong-Xi Zhang Ya-Ru Liu Ke Huang Wei Wu Guan-Ping Dong Yan Ni Jun-Fen Fu Division of Endocrinology National Clinical Research Center for Child HealthNational Children’s Regional Medical CenterThe Children’s HospitalDepartment of EndocrinologyNational Clinical Research Center for Child HealthNational Children’s Regional Medical CenterThe Children’s HospitalZhejiang University School of MedicineHangzhou310052China

With the exploding prevalence of obesity,many children are at risk of developing nonalcoholic fatty liver disease.Using anthropometric and laboratory parameters,our study aimed to develop a model to quantitatively evaluate liver fat content(LFC)in children with obesity.Methods A well-characterized cohort of 181 children between 5 and 16 years of age were recruited to the study in the Endocrinology Department as the derivation cohort.The external validation cohort comprised 77 children.The assessment of liver fat content was performed using proton magnetic resonance spectroscopy.Anthropometry and laboratory metrics were measured in all subjects.B-ultrasound examination was carried out in the external validation cohort.The Kruskal-Wallis test,Spearman bivariate correlation analyses,univariable linear regressions and multivariable linear regression were used to build the optimal predictive model.Results The model was based on indicators including alanine aminotransferase,homeostasis model assessment of insulin resistance,triglycerides,waist circumference and Tanner stage.The adjusted R^(2)of the model was 0.589,which presented high sensitivity and specificity both in internal[sensitivity of 0.824,specificity of 0.900,area under curve(AUC)of 0.900 with a 95%confidence interval:0.783–1.000]and external validation(sensitivity of 0.918 and specificity of 0.821,AUC of 0.901 with a 95%confidence interval:0.818–0.984).Conclusions Our model based on five clinical indicators was simple,non-invasive,and inexpensive;it had high sensitivity and specificity in predicting LFC in children.Thus,it may be useful for identifying children with obesity who are at risk for developing nonalcoholic fatty liver disease.

关键词： Biochemical markers Children Magnetic resonance spectroscopy Nonalcoholic fatty liver disease Pediatric obesity

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Survey of hepatitis B virus infection for liver cancer screening in China: A population-based, cross-sectional study

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中华医学杂志(英文版) 2024年第12期137卷 2024 May 20页

作者： Xu Yongjie Xia Changfa Li He Cao Maomao Yang Fan Li Qianru Cao Mengdi Chen Wanqing Office of Cancer Screening National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital Chinese Academy of Medical Sciences and Peking Union Medical College Beijing China Office of National Cancer regional medical Centre in Liaoning Province The First Affiliated Hospital of China Medical University Shenyang Liaoning China.

Background: Hepatitis B virus (HBV) infection is the primary cause of hepatocellular carcinoma (HCC) in China. The target population for HCC screening comprises individuals who test positive for hepatitis B surface antigen (HBsAg). However, current data on the prevalence of HBV infection among individuals who are eligible for HCC screening in China are lacking. We aimed to assess the seroepidemiology of HBV infection among Chinese individuals eligible for HCC screening to provide the latest evidence for appropriate HCC screening strategies in China.Methods: Questionnaires including information of sex, age, ethnicity, marital status, educational level, source of drinking water, as well as smoking and alcohol consumption history and serum samples were collected from females aged 45–64 years and males aged 35–64 years in 21 counties from 4 provinces in eastern and central China between 2015 and 2023. Enzyme-linked immunosorbent assay methods were used to detect the serum HBV marker HBsAg.Results: A total of 603,082 individuals were enrolled, and serum samples were collected for analysis from January 1, 2015 to December 31, 2023. The prevalence of HBsAg positive in the study population was 5.23% (31,528/603,082). The prevalence of HBsAg positive was greater in males than in females (5.60% [17,660/315,183]vs 4.82% [13,868/287,899], χ2 = 187.52, P <0.0001). The elderly participants exhibited a greater prevalence of HBV infection than younger participants (χ2 = 41.73,P <0.0001). Birth cohort analysis revealed an overall downward trend in HBV prevalence for both males and females. Individuals born in more recent cohorts exhibited a lower prevalence of HBV infection as compared to those born earlier.Conclusions: The current prevalence of HBV infection remains above 5% in populations eligible for HCC screening in China.

关键词： Hepatitis B virus Liver cancer screening China Hepatitis B surface antigens Early detection of cancer

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Alterations in nasal microbiota of patients with amyotrophic lateral sclerosis

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Chinese medical Journal 2024年第2期137卷 162-171页

作者： Kaixiong Liu Qifu Guo Ying Ding Li Luo Jianchai Huang Qijie Zhang Department of Respiratory and Critical Care Medicine The First Affiliated HospitalFujian Medical UniversityFuzhouFujian 350005China Department of Respiratory and Critical Care MedicineNational Regional Medical CenterBinhai Campus of The First Affiliated HospitalFujian Medical UniversityFuzhouFujian 350212China Department of Neurology Fujian Institute of NeurologyThe First Affiliated HospitalFujian Medical UniversityFuzhouFujian 350005China Department of NeurologyNational Regional Medical CenterBinhai Campus of The First Affiliated HospitalFujian Medical UniversityFuzhouFujian 350212China

Background:Links between alterations in gut microbiota composition and amyotrophic lateral sclerosis(ALS)have previously been reported.This study aimed to examine the microbiota in the nasal cavity of ALS.Methods:Sixty-six ALS patients and 40 healthy caregivers who live in close proximity with patients were enrolled.High throughput metagenomic sequencing of the 16S ribosomal deoxyribonucleic acid(rDNA)gene V3-V4 region of nasal microbiota was used to characterize the alpha and beta diversity and relative abundance of bacterial taxa,predict function,and conduct correlation analysis between specific taxa and clinical features.Results:The nasal microbiome of ALS patients showed lower alpha diversity than that of corresponding healthy family members.Genera Gaiella,Sphingomonas,Polaribacter_1,Lachnospiraceae_NK4A136_group,Klebsiella,and Alistipes were differentially enriched in ALS patients compared to controls.Nasal microbiota composition in ALS patients significantly differed from that in healthy subjects(unweighted UniFrac P=0.001),while Linear discriminant analysis Effect Size(LEfSe)analysis indicated that Bacteroidetes and Firmicutes dominated healthy nasal communities at the phylum level,whereas Actinobacteria was the predominant phylum and Thermoleophilia was the predominant class in ALS patients.Genus Faecalibacterium and Alistipes were positively correlated with ALS functional rating scale revised(ALSFRS-R;r_(s)=0.349,P=0.020 and r_(s)=0.393,P=0.008),while Prevotella-9 and Bacteroides operational taxonomic units(OTUs)were positively associated with lung function(FVC)in ALS patients(r_(s)=0.304,P=0.045,and r_(s)=0.300,P=0.048,respectively).Prevotella-1 was positively correlated with white blood cell counts(WBC,r_(s)=0.347,P=0.021),neutrophil percentage(Neu%,r_(s)=0.428,P=0.004),and neutrophil-to-lymphocyte ratio(NLR,r_(s)=0.411,P=0.006),but negatively correlated with lymphocyte percentage(Lym%,r_(s)=-0.408,P=0.006).In contrast,Streptococcus was negatively associated with Neu%(r_(s)=-0.445,P=0.003)and NLR(r_(s)

关键词： Amyotrophic lateral sclerosis Nasal microbiota Dysbiosis Inflammation

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GeMemiOM: the curated database on genes, putative methylation study targets, and microRNA targets for otitis media

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Journal of Genetics and Genomics 2024年第2期51卷 260-263页

作者： Kondyarpu Abhishek Bineet Kumar Mohanta Pratima Kumari Anshuman Dixit Puppala Venkat Ramchander Institute of Life Sciences Nalco SquareChandrasekharpurBhubaneswarIndia regional center for Biotechnology FaridabadHaryanaIndia

Otitis media(OM),the most underrated middle ear disease,often onsets during childhood and gets complicated in susceptible patients.Inflammation of the middle ear(ME)leads to its degradation and abnormal physiological functions.Prolonged ME inflammation sometimes results in lethal secondary complications(Penido et al.,2016).OM is a corroboration of multiple facets that leads to disabling hearing loss and associated complications.Some of the facets constituted are genetic,epigenetic,immunogenetic,anatomical.

关键词： inflammation media

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Abnormal function of EPHA2/p.R957P mutant in congenital cataract

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International Journal of Ophthalmology(English edition) 2024年第6期17卷 1007-1017页

作者： Jing-Jin Zhang Zong-Fu Cao Bi-Ting Zhou Ju-Hua Yang Zhong Li Shuang Lin Xiao-Le Chen Nan-Wen Zhang Qin Ye Xu Ma Yi-Hua Zhu Department of Ophthalmology the First Affiliated Hospital of Fujian Medical UniversityFujian Institute of OphthalmologyFujian Provincial Clinical Medical Research Center of Eye Diseases and OptometryFuzhou 350005Fujian ProvinceChina Department of Ophthalmology National Regional Medical CenterBinhai Campus of the First Affiliated HospitalFujian Medical UniversityFuzhou 350005Fujian ProvinceChina Chinese Academy of medical Sciences&Peking Union medical College Beijing 100000China National Human Genetic Resources center National Research Institute for Family PlanningBeijing 100081China Department of Bioengineering and Biopharmaceutics School of PharmacyFujian Medical UniversityFuzhou 350004Fujian ProvinceChina

AIM:To identify genetic defects in a Chinese family with congenital posterior polar cataracts and assess the pathogenicity.METHODS:A four-generation Chinese family affected with autosomal dominant congenital cataract was recruited.Nineteen individuals took part in this study including 5 affected and 14 unaffected individuals.Sanger sequencing targeted hot-spot regions of 27 congenital cataract-causing genes for variant discovery.The pathogenicity of the variant was evaluated by the guidelines of American College of medical Genetics and InterVar software.Confocal microscopy was applied to detect the subcellular localization of fluorescence-labeled ephrin type-A receptor 2(EPHA2).Co-immunoprecipitation assay was implemented to estimate the interaction between EphA2 and other lens membrane proteins.The mRNA and protein expression were analyzed by reverse transcription-polymerase chain reaction(qRT-PCR)and Western blotting assay,respectively.The cell migration was analyzed by wound healing assay.Zebrafish model was generated by ectopic expression of human EPHA2/p.R957P mutant to demonstrate whether the mutant could cause lens opacity in vivo.RESULTS:A novel missense and pathogenic variant c.2870G>C was identified in the sterile alpha motif(SAM)domain of EPHA2.Functional studies demonstrated the variant’s impact:reduced EPHA2 protein expression,altered subcellular localization,and disrupted interactions with other lens membrane proteins.This mutant notably enhanced human lens epithelial cell migration,and induced a central cloudy region and roughness in zebrafish lenses with ectopic expression of human EPHA2/p.R957P mutant under differential interference contrast(DIC)optics.CONCLUSION:Novel pathogenic c.2870G>C variant of EPHA2 in a Chinese congenital cataract family contributes to disease pathogenesis.

关键词： congenital cataract EPHA2 missense variant function analysis

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Laparoscopic left hemihepatectomy guided by indocyanine green fluorescence: A cranial-dorsal approach

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World Journal of Gastrointestinal Surgery 2024年第2期16卷 409-418页

作者： Xing-Ru Wang Xiao-Ju Li Dan-Dan Wan Qian Zhang Tian-Xi Liu Zong-Wen Shen Hong-Xing Tong Yan Li Jian-Wei Li Institute of Hepatobiliary Surgery First Affiliated HospitalArmy Medical UniversityChongqing 400038China Department of Hepatobiliary Surgery Qujing Central Hospital of Yunnan Regional Medical CenterQujing 655000Yunnan ProvinceChina School of Clinical Medicine Qujing Medical CollegeQujing 655000Yunnan ProvinceChina

BACKGROUND Advancements in laparoscopic technology and a deeper understanding of intra-hepatic anatomy have led to the establishment of more precise laparoscopic hepatectomy(LH)techniques.The indocyanine green(ICG)fluorescence navi-gation technique has emerged as the most effective method for identifying hepatic regions,potentially overcoming the limitations of LH.While laparoscopic left hemihepatectomy(LLH)is a standardized procedure,there is a need for innova-tive strategies to enhance its outcomes.important anatomical markers,surgical skills,and ICG staining methods.METHODS Thirty-seven patients who underwent ICG fluorescence-guided LLH at Qujing Second People's Hospital between January 2019 and February 2022 were retrospectively analyzed.The cranial-dorsal approach was performed which involves dissecting the left hepatic vein cephalad,isolating the Arantius ligament,exposing the middle hepatic vein,and dissecting the parenchyma from the dorsal to the foot in order to complete the anatomical LLH.The surgical methods,as well as intra-and post-surgical data,were recorded and analyzed.Our hospital’s medical Ethics Committee approved this study(Ethical review:2022-019-01).RESULTS Intraoperative blood loss during LLH was 335.68±99.869 mL and the rates of transfusion and conversion to laparotomy were 13.5%and 0%,respectively.The overall incidence of complications throughout the follow-up(median of 18 months;range 1-36 months)was 21.6%.No mortality or severe complications(level IV)were reported.CONCLUSION LLH has the potential to become a novel,standardized approach that can effectively,safely,and simply expose the middle hepatic vein and meet the requirements of precision surgery.

关键词： Laparoscopic left hemihepatectomy Indocyanine green Cranial-dorsal approach Laparoscopic hepatectomy Arantius ligament Glissonean pedicle

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Philippine retinoblastoma initiative multi-eye center study 2010-2020

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International Journal of Ophthalmology(English edition) 2024年第1期17卷 144-156页

作者： Roland Joseph D.Tan Gary John V.Mercado Patricia E.Cabrera Paulita Pamela P.Astudillo Rolando Enrique D.Domingo Josept Mari S.Poblete Charmaine Grace M.Cabebe Adriel Vincent R.Te Melissa Anne S.Gonzales Jocelyn G.Sy Beltran Alexis A.Aclan Jayson T.So Fatima G.Regala Kimberley Amanda K.Comia Josemaria M.Castro Mara Augustine S.Galang Aldous Dominic C.Cabanlas Benedicto Juan E.Aguilar Gabrielle S.Evangelista Jo Michael Maniwan Andrei P.Martin Calvin Y.Martinez John Alfred H.Lim Rena Ivy Bascuna Rachel M.Ng Kevin B.Agsaoay Kris Zanna A.Acluba-Arao Ellaine Rose V.Apostol Beatriz M.Prieto Department of Ophthalmology and Visual Sciences Philippine General HospitalManila 1000Philippines Department of Ophthalmology Baguio General Hospital and Medical CenterBaguio City 2600Philippines Department of Ophthalmology Manila Doctors HospitalManila 1000Philippines Department of Ophthalmology Rizal Medical CenterPasig City 1600Philippines Department of Ophthalmology Jose B.Lingad Memorial Regional HospitalPampanga 2000Philippines Department of Ophthalmology Southern Philippines Medical CenterDavao City 8000Philippines Department of Ophthalmology East Avenue Medical CenterQuezon City 1100Philippines Department of Ophthalmology Northern Mindanao Medical CenterCagayan de Oro City 9000Philippines Department of Ophthalmology Cebu Velez General HospitalCebu City 6000Philippines Legazpi Eye center Legazpi City 4500Philippines Department of Ophthalmology Cagayan Valley Medical CenterTuguegarao City 3500Philippines

AIM:To provide a comprehensive and more representative national data on the disease,especially on treatment options and outcomes,and to determine access of retinoblastoma patients from Luzon,Visayas and Mindanao to eye care,and determine if access is associated with delay in consultation,staging and outcomes.METHODS:Cohort study of retinoblastoma patients seen in eleven institutions located in the three major areas of the Philippines namely Luzon,Vizayas and Mindanao from 2010-2020.RESULTS:Totally 636 patients,involving 821 eyes,were included.Majority(57%)were from Luzon and were seen in institutions in Luzon(72%).Annually,58±10 new cases were seen with 71%having unilateral disease.Median delay of consultation remained long at 9(3,17)mo,longest in patients with unilateral disease(P<0.02)and those from the Visayas(P<0.003).Based on the International Retinoblastoma Staging System,only 35%of patients had Stage 1 while 47%already had extraocular disease.Enucleation was the most common treatment received by 484 patients while intravenous chemotherapy was received by 469.There were 250(39%)patients alive,195(31%)dead,85(13%)abandoned,17(3%)refused and 89(14%)with no data.CONCLUSION:This study presents the largest cohort of retinoblastoma patients in the Philippines in terms of patients’and participating institutions’number and geographical location and type of institution(private and public).It also presents more comprehensive data on the treatments used and outcomes(survival,globe salvage,and vision retention rates).Delay in consultation was still long among patients leading to advanced disease stage and lower survival rate.Despite increasing capacity to diagnose and manage retinoblastoma in the country,the delay of consultation remains long primarily due to accessibility issues to eye care institutions especially in the Visayas and financial concerns.The delay was still significant that overall survival rate remain low.

关键词： retinoblastoma Philippines clinical profile

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Transcriptomic and pathological profiling of a new congenic mouse model with Lepr mutation:Evaluating susceptibility to the development of obesity and NAFLD

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Genes & Diseases 2024年第3期11卷 34-38页

作者： MJ Mahesh Kumar Shailendra Arindkar Masum Saini Perumal Nagarajan National Institute of Immunology New Delhi 100067India center for Cellular and Molecular Biology Hyderabad 500007India regional center for Biotechnology Faridabad 121001India

Non-alcoholic fatty liver disease(NAFLD)and type 2 diabetes mellitus(T2DM)are two disease conditions for which obesity is a risk factor.^(1)Due to the close relationship between the three pathologies,researchers frequently use the same mouse models to identify the underlying processes of obesity,NAFLD,and T2DM.For instance,leptin(Lep)-null(ob/ob)and leptin receptor(Lepr)-deficient(db/db)mice spontaneously develop NAFLD and show different phenotypes of extreme obesity and diabetes,respectively.

关键词： obesity NAFLD Lep

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Big data-driven water research towards metaverse

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Water Science and Engineering 2024年第2期17卷 101-107页

作者： Minori Uchimiya USDA-ARS Southern regional Research center 1100 Allen Toussaint BoulevardNew OrleansLA 70124USA

Although big data is publicly available on water quality parameters,virtual simulation has not yet been adequately adapted in environmental chemistry research.Digital twin is different from conventional geospatial modeling approaches and is particularly useful when systematic laboratory/field experiment is not realistic(e.g.,climate impact and water-related environmental catastrophe)or difficult to design and monitor in a real time(e.g.,pollutant and nutrient cycles in estuaries,soils,and sediments).Data-driven water research could realize early warning and disaster readiness simulations for diverse environmental scenarios,including drinking water contamination.

关键词： Data mining Omics Remote sensing Sensor Chemoinformatics

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Early results of the integrative epigenomic-transcriptomic landscape of colorectal adenoma and cancer

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World Journal of Gastrointestinal Oncology 2024年第2期16卷 414-435页

作者： You-Wang Lu Zhao-Li Ding Rui Mao Gui-Gang Zhao Yu-Qi He Xiao-Lu Li Jiang Liu Department of Dermatology and Venereology The First Affiliated Hospital of Kunming Medical UniversityKunming 650032Yunnan ProvinceChina Kunming Biological Diversity regional center of Large Apparatus and Equipments Public Technical Service CenterKunming Institute of ZoologyKunming 650223Yunnan ProvinceChina School of Stomatology Kunming Medical UniversityKunming 650500Yunnan ProvinceChina Genome center of Biodiversity Kunming Institute of ZoologyChinese Academy of ScienceKunming 650223Yunnan ProvinceChina Department of Reproduction and Genetics The First Affiliated Hospital of Kunming Medical UniversityKunming 650032Yunnan ProvinceChina

BACKGROUND Aberrant methylation is common during the initiation and progression of colorectal cancer(CRC),and detecting these changes that occur during early adenoma(ADE)formation and CRC progression has clinical value.AIM To identify potential DNA methylation markers specific to ADE and CRC.METHODS Here,we performed SeqCap targeted bisulfite sequencing and RNA-seq analysis of colorectal ADE and CRC samples to profile the epigenomic-transcriptomic landscape.RESULTS Comparing 22 CRC and 25 ADE samples,global methylation was higher in the former,but both showed similar methylation patterns regarding differentially methylated gene positions,chromatin signatures,and repeated elements.High-grade CRC tended to exhibit elevated methylation levels in gene promoter regions compared to those in low-grade CRC.Combined with RNA-seq gene expression data,we identified 14 methylation-regulated differentially expressed genes,of which only AGTR1 and NECAB1 methylation had prognostic significance.CONCLUSION Our results suggest that genome-wide alterations in DNA methylation occur during the early stages of CRC and demonstrate the methylation signatures associated with colorectal ADEs and CRC,suggesting prognostic biomarkers for CRC.

关键词： Colorectal cancer Epigenomic alteration Transcriptome Methylation-regulated differentially expressed genes

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