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Machine learning applications in stroke medicine:advancements,challenges,and future prospectives

Neural Regeneration Research 2024年第4期19卷 769-773页

作者： Mario Daidone Sergio Ferrantelli Antonino Tuttolomondo Internal Medicine and Stroke Care Ward Department of Health PromotionMother and Child CareInternal Medicine and Medical SpecialtiesUniversity of Palermo Molecular and Clinical Medicine PhD program University of Palermo

Stroke is a leading cause of disability and mortality worldwide,necessitating the development of advanced technologies to improve its diagnosis,treatment,and patient outcomes.In recent years,machine learning techniques have emerged as promising tools in stroke medicine,enabling efficient analysis of large-scale datasets and facilitating personalized and precision medicine approaches.This abstract provides a comprehensive overview of machine learning’s applications,challenges,and future directions in stroke medicine.Recently introduced machine learning algorithms have been extensively employed in all the fields of stroke medicine.Machine learning models have demonstrated remarkable accuracy in imaging analysis,diagnosing stroke subtypes,risk stratifications,guiding medical treatment,and predicting patient prognosis.Despite the tremendous potential of machine learning in stroke medicine,several challenges must be addressed.These include the need for standardized and interoperable data collection,robust model validation and generalization,and the ethical considerations surrounding privacy and bias.In addition,integrating machine learning models into clinical workflows and establishing regulatory frameworks are critical for ensuring their widespread adoption and impact in routine stroke care.Machine learning promises to revolutionize stroke medicine by enabling precise diagnosis,tailored treatment selection,and improved prognostication.Continued research and collaboration among clinicians,researchers,and technologists are essential for overcoming challenges and realizing the full potential of machine learning in stroke care,ultimately leading to enhanced patient outcomes and quality of life.This review aims to summarize all the current implications of machine learning in stroke diagnosis,treatment,and prognostic evaluation.At the same time,another purpose of this paper is to explore all the future perspectives these techniques can provide in combating this disabling disease.

关键词： cerebrovascular disease deep learning machine learning reinforcement learning stroke stroke therapy supervised learning unsupervised learning

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Single-cell RNA sequencing in juvenile idiopathic arthritis

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Genes & Diseases 2024年第2期11卷 633-644页

作者： Xiwen Luo Xuemei Tang Department of Rheumatology and Immunology Children’s Hospital of Chongqing Medical UniversityChongqing 400014China Chongqing Key Laboratory of child Infection and Immunity 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 400014China

Juvenile idiopathic arthritis (JIA) is one of the most common chronic inflammatory rheumatic diseases in children,with onset before age 16 and lasting for more than 6 weeks.JIA is a highly heterogeneous condition with various consequences for health and quality of life.For some JIA patients,early detection and intervention remain challenging.As a result,further investigation of the complex and unknown mechanisms underlying JIA is required.Advances in technology now allow us to describe the biological heterogeneity and function of individual cell populations in JIA.Through this review,we hope to provide novel ideas and potential targets for the diagnosis and treatment of JIA by summarizing the current findings of single-cell RNA sequencing studies and understanding how the major cell subsets drive JIA pathogenesis.

关键词： Juvenile idiopathic arthritis Macrophage Macrophage activation syndrome Monocyte Single-cell RNA sequencing Synoviocyte T cell

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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 disease.RACK1 is highly expressed in neuronal cells of the central nervous system and regulates the pathogenesis of AD.Specifically,RACK1 is involved in regulation of the amyloid-β precursor protein processing through α-or β-secretase by binding to different protein kinase C isoforms.Additionally,RACK1 promotes synaptogenesis and synaptic plasticity by inhibiting N-methyl-D-aspartate receptors and activating gamma-aminobutyric acid A receptors,thereby preventing neuronal excitotoxicity.RACK1 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 pathways.The 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 target.In 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

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Coverage and determinants of infant postnatal care in Nigeria: A population-based cross-sectional study

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儿科学研究(英文) 2024年第1期8卷 27-36页

作者： Egbewale Bolaji Emmanuel Oyedeji Olusola Bump Jesse Sudfeld Christopher Robert Department of Global Health and Population Takemi Program in International Health Harvard T. H. Chan School of Public Health Boston Massachusetts USA Department of Community Medicine College of Health Sciences Ladoke Akintola University of Technology Ogbomoso Nigeria Department of Pediatrics and child Health College of Health Sciences Ladoke Akintola University of Technology Ogbomoso Nigeria

Importance: In 2019, Nigeria had the largest number of under-5 child deaths globally and many of these deaths occurred within the first week of life. The World Health Organization recommends infant postnatal care (PNC) attendance to support newborn survival; however, utilization of PNC is known to be low in many contexts.Objective: This study examined coverage and individual-level determinants of infant PNC attendance in Nigeria.Methods: Nigeria Demographic Health Survey (NDHS) 2018 data were used to evaluate infant PNC coverage and determinants. Infant PNC was defined as receipt of care within 2 days of birth. children delivered up to 2 years before the 2018 NDHS were included. We examined predictors of infant PNC with modified Poisson regression models to estimate relative risks (RRs).Results: The national coverage of infant PNC was 37.3% (95% confidence interval [CI]: 35.8%–38.7%). Significant heterogeneity in PNC attendance existed at state and regional levels. Facility delivery was strongly associated with the uptake of PNC (RR: 6.07; 95% CI: 5.60–6.58). Greater maternal education, maternal employment, urban residence, female head of household, and greater wealth were also associated with an increased likelihood of PNC visits.Interpretation: The uptake of infant PNC is low and interventions are urgently needed to promote equity in access and increase demand for PNC in Nigeria.

关键词： Infant postnatal care Epidemiology Coverage Determinants Nigeria

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Early embryonic failure caused by a novel mutation in the TUBB8 gene:A case report

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World Journal of Clinical Cases 2024年第12期12卷 2092-2098页

作者： Xiao-Yu Zhang Xing-Xing Zhang Lei Wang Department of Reproductive Center Zaozhuang Maternal and Child Healthcare HospitalZaozhuang 277000Shandong ProvinceChina

BACKGROUND This study aimed to explore the relationship between gene mutations and early embryonic development arrest and to provide more possibilities for the diagnosis and treatment of repeated implantation failure.CASE SUMMARY Here,we collected and described the clinical data of a patient with early embryonic development stagnation after repeated in vitro fertilization attempts for primary infertility at the Department Reproductive Center of Zaozhuang Maternal and child Healthcare Hospital.We also detected the whole-exon gene of the patient's spouse and parents,and conducted bioinformatics analysis to determine the pathogenesis of the gene.CONCLUSION A novel mutant of the TUBB8 gene[c.602G>T(p.C201F)]was identified,and this mutant provided new data on the genotype-phenotype relationships of related diseases.

关键词： Genes Mutation Embryonic development Fertilization in vitro Intracytoplasmic sperm injection Case report

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A genomic association study revealing subphenotypes of childhood steroid-sensitive nephrotic syndrome in a larger genomic sequencing cohort

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Genes & Diseases 2024年第4期11卷 400-410页

作者： Han Chan Fenfen Ni Bo Zhao Huimin Jiang Juanjuan Ding Li Wang Xiaowen Wang Jingjing Cui Shipin Feng Xiaojie Gao Xueying Yang Huan Chi Hao Lee Xuelan Chen Xiaoqin Li Jia Jiao Daoqi Wu Gaofu Zhang Mo Wang Yupeng Cun Xiongzhong Ruan Haiping Yang Qiu Li Department of Nephrology Children's Hospital of Chongqing Medical UniversityNational Clinical Research Center for Child Health and DisordersMinistry of Education Key Laboratory of Child Development and DisordersChongqing Key Laboratory of PediatricsChongqing 400014China Department of Nephrology Shenzhen Children's HospitalShenzhenGuangdong 518034China Department of Nephrology Kunming Children's HospitalKunming Medical UniversityKunmingYunnan 650228China Department of Nephrology Wuhan Children's HospitalTongji Medical College of Huazhong University of Science and TechnologyWuhanHubei 430015China Department of Nephrology Chengdu Women and Children Central HospitalChengduSichuan 610073China Pediatric Research Institute 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 DisordersChongqing Key Laboratory of Translational Medical Research in Cognitive Development and Learning and Memory DisordersChildren's Hospital of Chongqing Medical UniversityChongqing 400014China Department of Nephrology John Moorhead Research LaboratoryUniversity College London Medical SchoolRoyal Free CampusUniversity College LondonLondon NW32PFUnited Kingdom

Dissecting the genetic components that contribute to the two main subphenotypes of steroid-sensitive nephrotic syndrome(SSNS)using genome-wide association studies(GWAS)strategy is important for understanding the disease.We conducted a multicenter cohort study(360 patients and 1835 controls)combined with a GWAS strategy to identify susceptibility var-iants associated with the following two subphenotypes of ssNS:steroid-sensitive nephrotic syn-drome without relapse(SSNswR,181 patients)and steroid-dependent/frequent relapse nephrotic syndrome(SDNS/FRNS,179 patients).The distribution of two single-nucleotide poly-morphisms(SNPs)in ANKRD36 and ALPG was significant between SSNSWR and healthy controls,and that of two SNPs in GAD1 and HLA-DQA1 was significant between SDNS/FRNS and healthy controls.Interestingly,rs1047989 in HLA-DQA1 was a candidate locus for SDNS/FRNS but not for SSNSWR.No significant SNPs were observed between SSNSWR and SDNS/FRNS.Meanwhile,chromosome 2:171713702 in GAD1 was associated with a greater steroid dose(>0.75 mg/kg/d)upon relapse to first remission in patients with SDNS/FRNS(odds ratio=3.14;95%confidence interval,0.97-9.87;P=0.034).rs117014418 in APOL4 was significantly associated with a decrease in eGFR of greater than 20%compared with the baseline in SDNS/FRNS patients(P=0.0001).Protein-protein intersection network construction suggested that HLA-DQA1 and HLA-DQB1 function together through GSDMA.Thus,SSNSWR belongs to non-HLA region-dependent nephropathy,and the HLA-DQA/DQB region is likely strongly associated with dis-ease relapse,especially in SDNS/FRNS.The study provides a novel approach for the GWAS strategy of SsNS and contributes to our understanding of the pathological mechanisms of SSNSWRandSDNS/FRNS.

关键词： Frequentrelapse Genome-wide association study Human leukocyte antigen region Steroid-sensitive nephrotic syndrome

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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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Perioperative complication incidence and risk factors for retroperitoneal neuroblastoma in children:analysis of 571 patients

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World Journal of Pediatrics 2024年第3期20卷 250-258页

作者： Min He Jia-Bin Cai Xuan Wu Yin-Bing Tang Jin-Yan Wang Jun-Qin Mao Ji-Jun Chen Li-Feng Zhang Zhong-Hai Guan Jie-Ni Xiong Wan-Xin Peng Jin-Hu Wang Ting Tao Pediatric Cancer Research Center National Clinical Research Center for Child HealthHangzhouChina Department of Surgical Oncology Children's HospitalZhejiang University School of MedicineHangzhouChina Cancer Center Zhejiang UniversityNo.3333 Binsheng RodeHangzhouChina

Background Surgery plays an important role in the treatment of neuroblastoma.Perioperative complications may impact the course of neuroblastoma treatment.To date,comprehensive analyses of complications and risk factors have been lacking.Methods Patients with retroperitoneal neuroblastoma undergoing tumor resection were retrospectively analyzed between 2014 and 2021.The data collected included clinical characteristics,operative details,operative complications and postopera-tive outcomes.Risk factors for perioperative complications of retroperitoneal neuroblastoma were analyzed.Results A total of 571 patients were enrolled in this study.Perioperative complications were observed in 255(44.7%)patients.Lymphatic leakage(28.4%),diarrhea(13.5%),and injury(vascular,nerve and organ;7.5%)were the most frequent compli-cations.There were three operation-related deaths(0.53%):massive hemorrhage(n=1),biliary tract perforation(n=1)and intestinal necrosis(n=1).The presence of image-defined risk factors(IDRFs)[odds ratio(OR)=2.09,P<0.01],high stage of the International Neuroblastoma Risk Group staging system(INRGSS)(OR=0.454,P=0.04),retroperitoneal lymph node metastasis(OR=2.433,P=0.026),superior mesenteric artery encasement(OR=3.346,P=0.003),and inferior mesenteric artery encasement(OR=2.218,P=0.019)were identified as independent risk factors for perioperative complications.Conclusions Despite the high incidence of perioperative complications,the associated mortality rate was quite low.Perio-perative complications of retroperitoneal neuroblastoma were associated with IDRFs,INRGSS,retroperitoneal lymph node metastasis and vascular encasement.Patients with high-risk factors should receive more serious attention during surgery but should not discourage the determination to pursue total resection of neuroblastoma.

关键词： Complication Neuroblastoma Risk factors Surgery

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Deciding on life-saving treatment after a violent suicide attempt:an ethical case report

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General Psychiatry 2024年第2期37卷 289-291页

作者： Robert Wichers Hanna M Heller Sisco van Veen Department of child and Adolescent Psychiatry&Psychosocial Care Amsterdam University Medical CenterLocation AMCAmsterdamThe Netherlands Amsterdam Public Health Mental Health programAmsterdamThe Netherlands Department of Hospital Psychiatry Amsterdam University Medical CenterLocation VUmcAmsterdamThe Netherlands Research Department 113 Suicide PreventionAmsterdamThe Netherlands Department of Psychiatry&Department of Ethics Law and HumanitiesAmsterdam University Medical CenterAmsterdamThe Netherlands GGZ inGeest Mental Health Care AmsterdamThe Netherlands

To the editor:In the USA alone,there were 1.7 million suicide attempts in 2021.1 Although the majority of suicide attempts are not fatal,immediate medical attention is often necessary,especially when violent methods are used.2 These methods include jumping from heights,using a firearm,crashing a motor vehicle,and lying down or jumping in front of a moving object.

关键词： treatment editor alone

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Nutritional and lipid profile status of children with spinal muscular atrophy in China: A retrospective case-control study

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中华医学杂志(英文版) 2024年第10期137卷 2024 Mar 21页

作者： Feng Yijie Wei Jia Yao Mei Jin Jianing Cui Yiqin Long Qi Chen Fei Hong Yi Zhou Dongming Hu Jingjing Chen Xiao Gao Feng Yuan Changzheng Mao Shanshan Department of Neurology Children’s Hospital Zhejiang University School of Medicine National Clinical Research Center for Child Health Hangzhou Zhejiang China Department of Infection Children’s Hospital Zhejiang University School of Medicine National Clinical Research Center for Child Health Hangzhou Zhejiang China Department of Nutrition Children’s Hospital Zhejiang University School of Medicine National Clinical Research Center for Child Health Hangzhou Zhejiang China children’s Hospital Zhejiang University School of Medicine National Clinical Research Center for Child Health Hangzhou Zhejiang China School of Public Health Zhejiang University School of Medicine Hangzhou Zhejiang China children’s Hospital School of Public Health Zhejiang University School of Medicine National Clinical Research Center for Child Health Hangzhou Zhejiang China

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