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Dissecting the cell microenvironment of ovarian endometrioma through single-cell RNA sequencing

Science China Life Sciences 2025年第1期 116-129页

作者： Jiangpeng Wu Siyu Xia Wenting Ye Yan Sun Jing Cai Fubing Yu Haiping Wen Xiuwei Yi Taikang Li Mingwei Chen Jiayun Chen Ge Song Chuanbin Yang Yali Song Jigang Wang Department of Reproductive Medicine Dongguan Maternal and Child Health Care Hospital Department of Urology and Shenzhen Clinical Research Centre for GeriatricsShenzhen People's HospitalSouthern University of Science and Technology State Key Laboratory for Quality Ensurance and Sustainable Use of Dao-di Herbs Artemisinin Research Centerand Institute of Chinese Materia MedicaChina Academy of Chinese Medical Sciences Reproductive Medicine Center Foshan Women and Children Hospital State Key Laboratory of Antiviral Drugs School of PharmacyHenan University

Ovarian endometrioma（OE）, also known as “chocolate cysts,” is a cystic mass that develops in the ovaries due to endometriosis and is a common gynecological condition characterized by the growth of endometrial tissue outside the uterus, leading to symptoms such as dysmenorrhea, pelvic pain, and infertility. However, the precise molecular and cellular mechanisms driving this pathophysiology remain largely unknown, posing challenges for diagnosis and treatment. Here, we employed integrated single-cell transcriptomic profiling of over 52,000 individual cells from endometrial tissues of OE patients and healthy donors and identified twelve major cell populations. We identified notable alterations in cell type-specific proportions and molecular signatures associated with OE. Notably, the activation of IGFBP5+macrophages with pro-inflammatory properties, NK cell exhaustion, and aberrant proliferation of IQCG+and KLF2+epithelium are key features and may be the potential mechanisms underlying the pathogenesis of OE. Collectively, our data contribute to a better understanding of OE at the single cell level and may pave the way for the development of novel therapeutic strategies.

关键词： ovary high-throughput sequencing transcriptomics gene expression analysis ligand-receptor analysis

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Chronic liver disease is universal in children with biliary atresia living with native liver

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World Journal of Gastroenterology 2017年第43期23卷 7776-7784页

作者： Way Seah Lee Sik Yong Ong Hee Wei Foo Shin Yee Wong Chen Xi Kong Ru Bin Seah Ruey Terng Ng Department of Paediatrics University Malaya Medical Centre Paediatrics and child health Research Group University Malaya

AIM To examine the medical status of children with biliary atresia(BA) surviving with native *** In this cross-sectional review,data collected included complications of chronic liver disease(CLD)(cholangitis in the preceding 12 mo,portal hypertension,variceal bleeding,fractures,hepatopulmonary syndrome,portopulmonary hypertension) and laboratory indices(white cell and platelet counts,total bilirubin,albumin,international normalized ratio,alanine aminotransferase,aspartate aminotransferase,γ-glutamyl transpeptidase). Ideal medical outcome was defined as absence of clinical evidence of CLD or abnormal laboratory indices. RESULTS Fifty-two children [females = 32,62%; median age 7.4 years,n = 35(67%) older than 5 years] with BA(median age at surgery 60 d,range of 30 to 148 d) survived with native liver. Common complications of CLD noted were portal hypertension(40%,n = 21; 2 younger than 5 years),cholangitis(36%) and bleeding varices(25%,n = 13; 1 younger than 5 years). Fifteen(29%) had no clinical complications of CLD and three(6%) had normal laboratory indices. Ideal medical outcome was only seen in 1 patient(2%). CONCLUSION Clinical or laboratory evidence of CLD are present in 98% of children with BA living with native livers after hepatoportoenterostomy. Portal hypertension and variceal bleeding may be seen in children younger than 5 years of age,underscoring the importance of medical surveillance for complications of BA starting at a young age.

关键词： Biliary atresia Medical status Chronic liver disease

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GeDiPNet: Online resource of curated gene-disease associations for polypharmacological targets discovery

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Genes & Diseases 2023年第3期10卷 647-649页

作者： Indra Kundu Mridula Sharma Ram Shankar Barai Khushal Pokar Susan Idicula-Thomas Biomedical Informatics centre Indian Council of Medical Research-National Institute for Research in Reproductive and Child HealthMumbai 400012India

There are numerous online databases dedicated to genes associated with human *** redundancy and lack of consistency of disease terms in these databases pose a significant impediment in high throughput data *** address this,we developed GeDiPNet by compiling data available on gene-disease associations from six popular open access sources namely DisGeNET,1 ClinGen.

关键词： databases online analysis.

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Functional gastrointestinal disorders and gut-brain axis: What does the future hold?

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World Journal of Gastroenterology 2019年第5期25卷 552-566页

作者： Kashif Mukhtar Hasham Nawaz Shahab Abid centre of Excellence in Women and child health Aga Khan University Department of Medicine Section of Gastroenterology Aga Khan University

Despite their high prevalence, lack of understanding of the exact pathophysiology of the functional gastrointestinal disorders has restricted us to symptomatic diagnostic tools and therapies. Complex mechanisms underlying the disturbances in the bidirectional communication between the gastrointestinal tract and the brain have a vital role in the pathogenesis and are key to our understanding of the disease phenomenon. Although we have come a long way in our understanding of these complex disorders with the help of studies on animals especially rodents, there need to be more studies in humans, especially to identify the therapeutic targets. This review study looks at the anatomical features of the gut-brain axis in order to discuss the different factors and underlying molecular mechanisms that may have a role in the pathogenesis of functional gastrointestinal disorders. These molecules and their receptors can be targeted in future for further studies and possible therapeutic interventions. The article also discusses the potential role of artificial intelligence and machine learning and its possible role in our understanding of these scientifically challenging disorders.

关键词： Functional gastrointestinal disorders Idiopathic bowel syndrome Gut-brain axis Microbiome-gut-brain axis Machine learning Artificial intelligence

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Early developmental levels of children with autism spectrum disorder with different adaptive behaviors:a retrospective analysis

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Journal of Zhejiang University-Science B(Biomedicine & Biotechnology) 2024年第11期25卷 1031-1038页

作者： Chao SONG Ting HAN Lifei HU Ning SHAO Zepeng WANG Yan JIN Tingting CHEN Zhiwei ZHU Department of Developmental and Behavioral Pediatrics Children’s HospitalZhejiang University School of MedicineNational Clinical Research Centre for Child HealthHangzhou310052China

The Diagnostic and Statistical Manual of Mental Disorders,5th Edition(DSM-5)(American Psychiatric Association,2013)defines autism spectrum disorder(ASD)as a complex neurodevelopmental disorder that begins in early chi... 详细信息

关键词： spectrum Psychiat developmental

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Influence of parental education on the intelligence quotient profiles and socially adaptive behavior of school-age children with autism spectrum disorder in eastern China

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Journal of Zhejiang University-Science B(Biomedicine & Biotechnology) 2024年第11期25卷 1009-1019页

作者： Wenhao LI Chao SONG Lifei HU Lingling WU Zhiwei ZHU Department of Developmental and Behavioral Pediatrics Children’s HospitalZhejiang University School of MedicineNational Clinical Research Centre for Child HealthHangzhou310053China

Intelligence quotient(IQ)and adaptive behavior are the influencing factors of autism spectrum disorder(ASD)in children entering mainstream *** study explored the association between parental education level,IQ,and adaptive behavior in ASD groups.A total of 257 school-age ASD children were enrolled in our study from January 2017 to June *** parents completed a standard demographic form,including age at autism diagnosis,gender,school placement,and parents’educational *** Chinese version of the Wechsler Intelligence Scale for children,Fourth Edition(WISC-IV)was completed by a certified assessor for each enrolled *** were interviewed on adaptive behavior using the Chinese version of the Adaptive Behavior Assessment System,Second Edition(ABAS-II).The average IQ of school-age ASD children was 76.88(standard deviation(SD)=22.62)and boys had higher IQ levels than *** IQ was positively correlated with *** General Adaptive Composite(GAC)score was 82.47(SD=15.86)and adaptive behavior did not increase with *** children who attended mainstream schools had better adaptive behavior profiles than other *** mother’s education level showed a significant correlation with the IQ and adaptive behavior of autistic children,while the father’s education level did ***,better training and support for parents may help autistic children enter mainstream schools,with adaptive training being the most urgently required skill for parents.

关键词： Autism spectrum disorder(ASD)School-age children Intelligence quotient(IQ)Adaptive behavior Parental education

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Epidemiological Survey of Hemoglobinopathies Based on Next-Generation Sequencing Platform in Hunan Province,China

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Biomedical and Environmental Sciences 2023年第2期36卷 127-134页

作者： XI Hui LIU Qin XIE Dong Hua ZHOU Xu TANG Wang Lan TANG De Guo ZENG Chun Yan WANG Qiong NIE Xing Hui PENG Jin Ping GAO Xiao Ya WU Hong Liang ZHANG Hao Qing QIU Li FENG Zong Hui WANG Shu Yuan ZHOU Shu Xiang HE Jun ZHOU Shi Hao ZHOU Fa Qun ZHENG Jun Qing WANG Shun Yao CHEN Shi Ping ZHENG Zhi Fen MA Xiao Yuan FANG Jun Qun LIANG Chang Biao WANG Hua NHC Key Laboratory of Birth Defect for Research and Prevention Hunan Provincial Maternal and Child Health Care HospitalChangsha 410028HunanChina Yongzhou Hospital for Maternal and child health Care Yongzhou 425000HunanChina Changde Hospital for Maternal and child health Care Changde 415099HunanChina Hengyang Hospital for Maternal and child health Care Hengyang 421009HunanChina Shaoyang Hospital for Maternal and child health Care Shaoyang 422001HunanChina Yiyang Hospital for Maternal and child health Care Yiyang 413099HunanChina Yueyang Hospital for Maternal and child health Care Yueyang 414021HunanChina Center of Prenatal Diagnosis Chenzhou No.1 People’s HospitalChenzhou 423099HunanChina Loudi Hospital for Maternal and child health Care Loudi 417599HunanChina Huaihua Hospital for Maternal and child health Care Huaihua 418099HunanChina Xiangtan Hospital for Maternal and child health Care Xiangtan 411104HunanChina Zhuzhou Hospital for Maternal and child health Care Zhuzhou 412008HunanChina Changsha Hospital for Maternal and child health Care Changsha 410007HunanChina Xiangxi Tujia and Miao Autonomous Prefecture Hospital for Maternal and child health Care Jishou 416000HunanChina Zhang Jiajie centre for maternal and child health family planning services Zhangjiajie 427299HunanChina BGI Genomics BGI-ShenzhenShenzhen 518083GuangdongChina Clinical Laboratory of BGI health BGI-ShenzhenShenzhen 518083GuangdongChina BGI-Wuhan Clinical Laboratories BGI-ShenzhenWuhan 430074HubeiChina SEBIA Representative Office Shanghai 200001China

Objective This study was aimed at investigating the carrier rate of,and molecular variation in,α-andβ-globin gene mutations in Hunan *** We recruited 25,946 individuals attending premarital screening from 42 districts and counties in all 14 cities of Hunan *** screening was performed,and molecular parameters were *** The overall carrier rate of thalassemia was 7.1%,including 4.83%forα-thalassemia,2.15%forβ-thalassemia,and 0.12%for bothα-andβ-*** highest carrier rate of thalassemia was in Yongzhou(14.57%).The most abundant genotype ofα-thalassemia andβ-thalassemia was-α^(3.7)/αα(50.23%)andβ^(IVS-Ⅱ-654)/β^(N)(28.23%),***α-globin mutations[CD108(ACC>AAC),CAP+29(G>C),Hb Agrinio and Hb Cervantes]and sixβ-globin mutations[CAP+8(C>T),IVS-Ⅱ-848(C>T),-56(G>C),beta nt-77(G>C),codon 20/21(-TGGA)and Hb Knossos]had not previously been identified in ***,this study provides the first report of the carrier rates of abnormal hemoglobin variants andα-globin triplication in Hunan Province,which were 0.49%and 1.99%,*** Our study demonstrates the high complexity and diversity of thalassemia gene mutations in the Hunan *** results should facilitate genetic counselling and the prevention of severe thalassemia in this region.

关键词： Thalassemia Carrier rate Molecular spectrum Abnormal hemoglobin variants α-globin triplication

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Consequences of bullying victimization in childhood and adolescence:A systematic review and meta-analysis

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World Journal of Psychiatry 2017年第1期7卷 60-76页

作者： Sophie E Moore Rosana E Norman Shuichi Suetani Hannah J Thomas Peter D Sly James G Scott child health Research centre the University of Queensland Institute of health and Biomedical Innova-tion Queensland University of Technology School of Public health and Social Work Queensland University of Technology Queensland centre for Mental health Research the Park Centre for Mental Health Faculty of Medicine the University of Queensland the University of Queensland centre for Clinical Research the University of Queensland Metro North Mental health Royal Brisbane and Women’s Hospital

AIM To identify health and psychosocial problems associated with bullying victimization and conduct a meta-analysis summarizing the causal *** A systematic review was conducted using Pub Med, EMBASE, ERIC and Psyc INFO electronic databases up to 28 February 2015. The study included published longitudinal and cross-sectional articles that examined health and psychosocial consequences of bullying victimization. All meta-analyses were based on qualityeffects models. Evidence for causality was assessed using Bradford Hill criteria and the grading system developed by the World Cancer Research *** Out of 317 articles assessed for eligibility, 165 satisfied the predetermined inclusion criteria for *** significant associations were observed between bullying victimization and a wide range of adverse health and psychosocial problems. The evidence was strongest for causal associations between bullying victimization and mental health problems such as depression, anxiety, poor general health and suicidal ideation and behaviours. Probable causal associations existed between bullying victimization and tobacco and illicit drug use. CONCLUSION Strong evidence exists for a causal relationship between bullying victimization, mental health problems and substance use. Evidence also exists for associations between bullying victimization and other adverse health and psychosocial problems, however, there is insufficient evidence to conclude causality. The strong evidence that bullying victimization is causative of mental illness highlights the need for schools to implement effective interventions to address bullying behaviours.

关键词： Bullying Victimization Systematic review Meta-analysis child Adolescent

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Prospective randomised controlled trial of Algisite^(TM) M, Cuticerin^(TM), and Sorbact■ as donor site dressings in paediatric split-thickness skin grafts

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Burns & Trauma 2018年第4期6卷 297-306页

作者： Craig A.McBride Roy M.Kimble Kellie A.Stockton Pegg Leditschke children’s Burns centre Queensland Children’s HospitalChildren’s Health Queensland Hospital and Health ServiceSouth BrisbaneQueenslandAustralia centre for children’s Burns and Trauma Research Centre for Children’s Health ResearchUniversity of QueenslandSouth BrisbaneAustralia Discipline of Paediatrics and child health School of MedicineUniversity of QueenslandSt LuciaQueenslandAustralia

Background:This is a parallel three-arm prospective randomised controlled trial (RCT) comparing Algisite?M, Cuticerin?, and Sorbact? as donor site dressings in paediatric split-thickness skin grafts (STSG). All three were in current use within the Pegg Leditschke children's Burn centre (PLCBC), the largest paediatric burns centre in Queensland, Australia. Our objective was to find the best performing dressing, following on from previous trials designed to rationalise dressings for the burn wound itself. Methods:All children for STSG, with thigh donor sites, were considered for enrolment in the trial. Primary outcome measures were days to re-epithelialisation, and pain. Secondary measures were cost, itch, and scarring at 3 and 6 months. Patients and parents were blinded to group assignment. Blinding of assessors was possible with the dressing in situ, with partial blinding following first dressing change. Blinded photographic assessments of re-epithelialisation were used. Scar assessment was blinded. Covariates for analysis were sex, age, and graft thickness (as measured from a central biopsy). Results:There were 101 patients randomised to the Algisite?M (33), Cuticerin?(32), and Sorbact? (36) arms between April 2015 and July 2016. All were analysed for time to re-epithelialisation. Pain scores were not available for all time points in all patients. There were no significant differences between the three arms regarding pain, or time to re-epithelialisation. There were no significant differences for the secondary outcomes of itch, scarring, or cost. Regression analyses demonstrated faster re-epithelialisation in younger patients and decreased donor site scarring at 3 and 6 months with thinner STSG. There were no adverse effects noted. Conclusions:There are no data supporting a preference for one trial dressing over the others, in donor site wounds (DSW) in children. Thinner skin grafts lead to less donor site scarring in children. Younger patients have faster donor si

关键词： Split-thickness skin graft Donor site wound Paediatric Burns Alginate Algisite^(TM) M Cuticerin^(TM) Sorbact■

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MITOCHONDRIAL DNA POLYMORPHISM IN CHINESE

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Science in China,Ser.B 1988年第7期31卷 860-872页

作者：俞民澍邱信芳薛京伦刘祖洞谈家桢李厚均刘德祥李力余伍忠唐仙珍周美蓉 Institute of Genetics Fudan University Shanghai Laboratory of Genetics Xinjiang Urumqi General Hospital of Military Area Shanghai Luwan District Maternal and child health centre

Human mitochondrial DNA （mtDNA） restriction endonuclease fragment patterns were analyzed using placenta DNA isolated from 273 individuals representing four different nationalities, the Han, the Uygur, the Kazakh and the Hui populations. Thirty-eight fragment patterns （morphs） were observed with the enzyme ApaI, BamHI, EcoRl, HindIII, HinfI, HhaI, HapII, KpnI, MboI, PstI, PvuII, SacI, ScaL and XhoI. Fourteen new morphs, including some only existing in individual racial and national populations were observed, which indicates that there is a significant difference in the distribution of mtDNA morphs among various national and racial populations. By comparison with the mtDNA sequences in primate species, some mtDNA ancestral morphs were found to be retained in Oriental population today. This result provided indirect evidence that Asia may be one of the human original sources. Genetic distances among four national populations computed and employed in construction of an average linkage tree suggested that the

关键词： mitoehondrial DNA polymorphism restriction morphs.

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