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Asian Journal of Andrology 2024年第2期26卷 183-188页

作者： Huan Jiang Chu-Jie Huang Department of Reproductive Endocrinology Longgang District Maternity&Child Healthcare Hospital of Shenzhen City(Longgang Maternity and Child Institute of Shantou University Medical College)Shenzhen 518172China institute of Reproductive Immunology College of Life Science and TechnologyJinan UniversityGuangzhou 510632China

Aberrant sperm protamination is linked to sperm dysmorphology and nuclear chromatin ***,its effects on sperm cytoplasmic maturation remain largely *** relationships of protamines,sperm morphology,DNA damage,and cytoplasmic remodeling were illustrated in this study to provide fresh perspectives on the mechanisms of male infertility.A total of 205 infertile males were allocated into 5 groups according to the percentage of spermatozoa exhibiting abnormal morphology within their *** concentration,motility,abnormal sperm morphology,cytoplasmic droplets(CDs),and excess residual cytoplasm(ERC)were analyzed according to the World Health Organization manual(2010).Sperm nuclear vacuoles(NVs)were determined by propidium iodide(PI)*** protamine expressions(P1 and P2)were detected by western *** damage was measured by acridine orange test(AOT)to calculate the proportion of sperm with single-strand DNA breaks(SSBs).Our data showed that sperm concentration and motility in infertile males significantly decreased with the severity of abnormal sperm morphology(both P<0.01).P1 level,P1/P2 ratio,and SSB rate increased with the severity of sperm dysmorphology,whilst the P2 level decreased(all P

关键词： abnormal sperm morphology excess residual cytoplasm male infertility protamines sperm DNA damage sperm nuclear vacuoles

Pediatric stricturing Crohn's disease

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World Journal of Gastroenterology 2024年第12期30卷 1651-1654页

作者： Alessandro Boscarelli Matteo Bramuzzo Department of Pediatric Surgery and Urology Institute for Maternal and Child Health-IRCCS“Burlo Garofolo”Trieste 34137Italy Department of Gastrointestinal Endoscopy and Nutrition Institute for Maternal and Child Health-IRCCS"Burlo Garofolo"Trieste 34137Italy

Crohn’s disease(CD)is a chronic inflammatory disease of the digestive *** incidence of pediatric CD is increasing and is currently 2.5-11.4 per 100000 ***,approximately 25%of children with CD develop stricturing CD(SCD)that requires *** stricturing diseases refractory to pharmacological management frequently require non-pharmacological ***-pharmacological therapeutic strategies include endoscopic balloon dilatation,stricturoplasty,and surgical resection of the strictured ***,strictures tend to recur postoperatively regardless of treatment *** lifetime risk of surgery in patients with childhood SCD remains at 50%-90%.Thus,new and emerging strategies,advanced diagnostic tools,and minimally invasive approaches are under investigation to improve the outcomes and overall quality of life of pediatric patients with SCD.

关键词： Stricturing Crohn’s disease Pediatrics Insights Future perspectives

The roles of RACK1 in the pathogenesis of Alzheimer's disease

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Journal of Biomedical Research 2024年第2期38卷 137-148页

作者： Wenting He Xiuyu Shi Zhifang Dong Pediatric Research institute Ministry of Education Key Laboratory of Child Development and DisordersNational Clinical Research Center for Child Health and DisordersChongqing Key Laboratory of Child Neurodevelopment and Cognitive DisordersChildren's Hospital of Chongqing Medical UniversityChongqing 400014China

The receptor for activated C kinase 1(RACK1)is a protein that plays a crucial role in various signaling pathways and is involved in the pathogenesis of Alzheimer's disease(AD),a prevalent neurodegenerative ***1 is highly expressed in neuronal cells of the central nervous system and regulates the pathogenesis of ***,RACK1 is involved in regulation of the amyloid-β precursor protein processing through α-or β-secretase by binding to different protein kinase C ***,RACK1 promotes synaptogenesis and synaptic plasticity by inhibiting N-methyl-D-aspartate receptors and activating gamma-aminobutyric acid A receptors,thereby preventing neuronal ***1 also assembles inflammasomes that are involved in various neuroinflammatory pathways,such as nuclear factor-kappa B,tumor necrosis factor-alpha,and NOD-like receptor family pyrin domain-containing 3 *** potential to design therapeutics that block amyloid-β accumulation and inflammation or precisely regulate synaptic plasticity represents an attractive therapeutic strategy,in which RACK1 is a potential *** this review,we summarize the contribution of RACK1 to the pathogenesis of AD and its potential as a therapeutic target.

关键词： RACK1 Alzheimer's disease PKC amyloid-β synaptic plasticity neuroinflammation

LncRNA IDH1-AS1 sponges miR-518c-5p to suppress proliferation of epithelial ovarian cancer cell by targeting RMB47

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The Journal of Biomedical Research 2024年第1期38卷 51-65页

作者： Juan Zhou Yiran Xu Luyao Wang Yu Cong Ke Huang Xinxing Pan Guangquan Liu Wenqu Li Chenchen Dai Pengfei Xu Xuemei Jia Department of Gynecology Women's Hospital of Nanjing Medical UniversityNanjing Maternity and Child Health Care HospitalNanjingJiangsu 210004China Nanjing Maternity and child Health Medical institute Women's Hospital of Nanjing Medical UniversityNanjing Maternity and Child Health Care HospitalNanjingJiangsu 210004China.

Long noncoding RNA(lncRNA)IDH1 antisense RNA 1(IDH1-AS1)is involved in the progression of multiple cancers,but its role in epithelial ovarian cancer(EOC)is ***,we investigated the expression levels of IDH1-AS1 in EOC cells and normal ovarian epithelial cells by quantitative real-time PCR(qPCR).We first evaluated the effects of IDH1-AS1 on the proliferation,migration,and invasion of EOC cells through cell counting kit-8,colony formation,EdU,transwell,wound-healing,and xenograft *** then explored the downstream targets of IDH1-AS1 and verified the results by a dual-luciferase reporter,qPCR,rescue experiments,and Western *** found that the expression levels of IDH1-AS1 were lower in EOC cells than in normal ovarian epithelial *** IDH1-AS1 expression of EOC patients from the Gene Expression Profiling Interactive Analysis database indicated a favorable prognosis,because IDH1-AS1 inhibited cell proliferation and xenograft tumor growth of ***1-AS1 sponged miR-518c-5p whose overexpression promoted EOC cell *** miR-518c-5p mimic also reversed the proliferation-inhibiting effect induced by IDH1-AS1 ***,we found that RNA binding motif protein 47(RBM47)was the downstream target of miR-518c-5p,that upregulation of RBM47 inhibited EOC cell proliferation,and that RBM47 overexpressing plasmid counteracted the proliferation-promoting effect caused by the IDH1-AS1 *** together,IDH1-AS1 may suppress EOC cell proliferation and tumor growth via the miR-518c-5p/RBM47 axis.

关键词： lncRNA IDH1-AS1 epithelial ovarian cancer miR-518c-5p RBM47

The protective effect of Limosilactobacillus reuteri against gestational diabetes mellitus through restoring intestinal microbiota homeostasis and attenuating inflammation in mice

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Food Science and Human Wellness 2024年

作者： Ce Qi Haowen Zhang Zhenli Liu Xiaolin Liu Lintao Zhang Liangliang You Jin Sun institute of Nutrition and Health， Qingdao University QingDao Newhope QinPai Dairy Co.Ltd. Tai'an Maternal and child Health Hospital Jiaozhou Maternity and child Health and Family Planning Service Center

Limosilactobacillus reuteri QS01 is potential probiotic isolated from the intestinal microbiota of healthy women in early pregnancy. In the current study， we examined whether QS01 can prevent gestational diabetes mellitus (GDM) in an enhanced mouse model of the condition. Female C57BL/6J mouse offspring (F1 generation) born to dams fed a control (CON) or low-protein diet (GDM group) during gestation and lactation were used. Pregnant F1 mice fed a standard diet were randomly assigned to 5 groups: CON， GDM， and GDM mice treated with metformin， QS01 or Lacticaseibacillus rhamnosus HN001. An oral glucose tolerance test was performed before sacrifice at gestational day 17. Glucose tolerance was significantly ameliorated by all three treatments. QS01 supplementation fortified the intestinal mucosal barrier and inhibited the escalation of plasma inflammatory cytokines. QS01 treatment altered the cecal microbiota composition and function. Plasma and cecal metabolite profiles were modulated by QS01， prominently demonstrating significant upregulation of indole lactate and L-tryptophan in plasma and 5-hydroxy-tryptophan in the cecum， positively correlated with gut Lactobacillus abundance. In summary， QS01 plays a role in preventing GDM by remodeling the intestinal microbiota， reinforcing the intestinal mucosal barrier and alleviating chronic inflammation.

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Insights from an academic endeavor into central nervous system drug discovery

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Neural Regeneration Research 2025年第6期20卷 1717-1718页

作者： Lieve van Veggel An M.Voets Tim Vanmierlo Rudy Schreiber BIOMED Biomedical Research institute Faculty of Medicine and Life SciencesHasselt UniversityHasseltBelgium Department of Psychiatry and Neuropsychology Division of Translational NeuroscienceEuropean Graduate School of NeuroscienceSchool for Mental Health and NeuroscienceMaastricht UniversityMaastrichtThe Netherlands Section of psychopharmacology Neuropsychology and PsychopharmacologyFaculty of Psychology and NeuroscienceMaastricht UniversityMaastrichtThe Netherlands University MS Center(UMSC) Hasselt-PeltBelgium

Historically,"big pharma"did most central nervous system drug discovery R&D ***,in modern times their"management reductionism"resulted in disappointing pipelines and pharma resided to(late)development,regulatory approval,and marketing(Thong,2015).This had significant consequences for financing and executing research,resulting in a larger role for funding by governments and patient-organizations and a shift of research to academia(Mazzucato,2013).

关键词： academic approval consequences

Recent advancement of sonogenetics:A promising noninvasive cellular manipulation by ultrasound

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Genes & Diseases 2024年第5期11卷 163-182页

作者： Jin Tang Mingxuan Feng Dong Wang Liang Zhang Ke Yang Pediatric Research institute Children’s Hospital of Chongqing Medical UniversityNational Clinical Research Center for Child Health and DisordersMinistry of Education Key Laboratory of Child Development and DisordersChina International Science and Technology Cooperation Base of Child Development and Critical DisordersChongqing Engineering Research Center of Stem Cell TherapyChongqing 400014China Department of Ultrasound The First Affiliated Hospital of Chongqing Medical UniversityChongqing 400016China Tongji Medical College Huazhong University of Science and TechnologyWuhanHubei 430074China

Recent advancements in biomedical research have underscored the importance of noninvasive cellular manipulation ***,a method that uses genetic engineering to produce ultrasound-sensitive proteins in target cells,is gaining prominence along with optogenetics,electrogenetics,and *** stimulation with ultrasound,these proteins trigger a cascade of cellular activities and *** traditional ultrasound modalities,sonogenetics offers enhanced spatial selectivity,improving precision and safety in disease *** technology broadens the scope of non-surgical interventions across a wide range of clinical research and therapeutic applications,including neuromodulation,oncologic treatments,stem cell therapy,and *** current literature predominantly emphasizes ultrasonic neuromodulation,this review offers a comprehensive exploration of *** discuss ultrasound properties,the specific ultrasound-sensitive proteins employed in sonogenetics,and the technique’s potential in managing conditions such as neurological disorders,cancer,and ophthalmic diseases,and in stem cell *** objective is to stimulate fresh perspectives for further research in this promising field.

关键词： Mechanosensitive channel Neuromodulation Sonogenetics Ultrasound Ultrasound-sensitive protein

Repeated pregnancy losses with multiple aneuploidies and major genomic imbalance:A case report

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Asian pacific Journal of Reproduction 2024年第3期13卷 143-146页

作者： Shailesh Pande Shiny Babu Harshavardhan Gawde Neha Minde Genetic Research Center ICMR-National Institute for Research in Reproductive and Child HealthJehangir Merwanji StreetParelMumbai-400012India

Rationale:If one of the partners is having balanced autosomal translocation,it is usually observed that the offspring inherit either normal chromosomes,balanced translocation identical to one of the parent or unbalanced chromosomal rearrangements of the same parental chromosome having ***:A unique case presented with history of 8 miscarriages for genetic *** last abortus material evaluation showed monosomy of chromosome X(Turner syndrome)in all the analyzed *** was a history of infertility and also repeated second trimester abortions on the paternal *** the maternal side,there was a history of intellectual ***:History of repeated abnormal pregnancy ***’s karyotype is normal;however,husband shows translocation between chromosome 4 and ***:Peripheral blood sample around 3 mL was collected for *** biopsy was done and DNA was extracted and processed for whole exome ***:Wife’s karyotype is normal and husband has translocation between chromosome 4 and ***,the entire pregnancy outcome including embryo screening has different,complete or partial aneuploidies of chromosomes other than chromosome 4 and *** lesson:Though the translocation in one of the parent is balanced,we have to think beyond traditional ways for evaluating a couple with repeated pregnancy loss as we cannot predict the errors at cell *** of in vitro fertilization and preimplantation genetic diagnosis in couples having balanced translocations should be discussed so that early intervention can prevent the agony of pregnancy loss.

关键词： In vitro fertilization Karyotype Products of conception Preimplantation genetic testing PGT Recurrent pregnancy loss

SIL1 improves cognitive impairment in APP23/PS45 mice by regulating amyloid precursor protein processing and Aβ generation

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Zoological Research 2024年第4期45卷 845-856页

作者： Qunxian Wang Yanshuang Jiang Zijun Meng Xiangjun Dong Dongjie Hu Liangye Ji Weihui Zhou Weihong Song Chongqing Key Laboratory of child Neurodevelopment and Cognitive Disorders Ministry of Education Key Laboratory of Child Development and DisordersNational Clinical Research Center for Child Health and DisordersChina International Science and Technology Cooperation Base of Child Development and Critical DisordersChildren's Hospital of Chongqing Medical UniversityChongqing 400000China Second Affiliated Hospital and Yuying children’s Hospital Institute of AgingKey Laboratory of Alzheimer’s Disease of Zhejiang ProvinceWenzhou Medical UniversityWenzhouZhejiang 325000China Oujiang Laboratory(Zhejiang Lab for Regenerative Medicine Vision and Brain Health)WenzhouZhejiang 325001China

SIL1,an endoplasmic reticulum(ER)-resident protein,is reported to play a protective role in Alzheimer’s disease(AD).However,the effect of SIL1 on amyloid precursor protein(APP)processing remains *** this study,the role of SIL1 in APP processing was explored both in vitro and in *** the in vitro experiment,SIL1 was either overexpressed or knocked down in cells stably expressing the human Swedish mutant *** the in vivo experiment,AAV-SIL1-EGFP or AAV-EGFP was microinjected into APP23/PS45 mice and their wild-type *** blotting(WB),immunohistochemistry,RNA sequencing(RNA-seq),and behavioral experiments were performed to evaluate the relevant *** indicated that SIL1 expression decreased in APP23/PS45 *** of SIL1 significantly decreased the protein levels of APP,presenilin-1(PS1),and C-terminal fragments(CTFs)of APP in vivo and in ***,knockdown of SIL1 increased the protein levels of APP,β-site APP cleavage enzyme 1(BACE1),PS1,and CTFs,as well as APP mRNA expression in 2EB2 ***,SIL1 overexpression reduced the number of senile plaques in APP23/PS45 ***,Y-maze and Morris Water maze tests demonstrated that SIL1 overexpression improved cognitive impairment in APP23/PS45 *** findings indicate that SIL1 improves cognitive impairment in APP23/PS45 mice by inhibiting APP amyloidogenic processing and suggest that SIL1 is a potential therapeutic target for AD by modulating APP processing.

关键词： Alzheimer’s disease SIL1 APP processing Cognitive impairment

Novel de novo TRPV4 mutation identified in a Chinese family with metatropic dysplasia inhibits chondrogenic differentiation

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Genes & Diseases 2024年第3期11卷 83-86页

作者： Ping Wei Weizhe Shi Tianying Nong Caixia Xian Xia Li Zhaohui Li Xin Li Jianping Wu Liyuan Shang Fulong Xu Yibo Xu Hongwen Xu Mingwei Zhu Guangzhou institute of Pediatrics Guangzhou Women and Children's Medical CenterGuangzhou Medical UniversityGuangdong Provincial Clinical Research Center for Child HealthGuangzhouGuangdong 510623China Department of Pediatric Orthopedics Guangzhou Women and Children's Medical CenterGuangzhou Medical UniversityGuangdong Provincial Clinical Research Center for Child HealthGuangzhouGuangdong 510623China

Metatropicdysplasia(MD,MIM156530)is a rare congenital bone dysplasia primarily characterized by severe platyspondyly with long and wide vertebral bodies and dumbbell deformity of the tubular *** can be caused by heterozygous mutations in the gene encoding transient receptor potential vanilloid family member 4(TRPV4).We identifieda novel de novo mutation,c.2353T>C,in the TRPV4 gene,in a Chinese family with mild MD.

关键词： TRPV4 dysplasia congenital