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Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children

四川生理科学杂志 2022年第12期44卷 2223-2223页

作者： Danyel Lee Laboratory of Human Genetics of Infectious Diseases Necker Branch INSERM U1163 Paris France Paris City University Imagine Institute Paris France Laboratory of Virology and Infectious Disease The Rockefeller University New York NY USA St. Giles Laboratory of Human Genetics of Infectious Diseases Rockefeller Branch The Rockefeller University New York NY USA Department of Cancer Biology Lerner Research Institute Cleveland Clinic Cleveland OH USA Human Evolutionary Genetics Unit Institut Pasteur Paris City University CNRS UMR 2000 Paris France Doctoral College Sorbonne University Paris France Laboratory of Immunology Lyon Sud Hospital Lyon France pediatric Intensive Care Department Hospital Sant Joan de Déu Barcelona Spain Kids Corona Platform Barcelona Spain Center for Biomedical Network Research on Epidemiology and Public Health (CIBERESP) Instituto de Salud Carlos III Madrid Spain Department of Surgery and Surgical Specializations Faculty of Medicine and Health Sciences University of Barcelona Barcelona Spain Respiratory and Immunological Dysfunction in pediatric Critically Ill Patients Institute of Recerca Sant Joan de Déu Barcelona Spain Bursa City Hospital Bursa Turkey Ankara City Hospital Yildirim Beyazit University Ankara Turkey Immunology and Rheumatology Division Department of Pediatrics University of Montreal CHU Sainte-Justine Montreal QC Canada Human Evolutionary Genetics Unit Institut Pasteur Paris City University CNRS UMR 2000 Paris France Center for Translational Research Institut Pasteur Paris City University Paris France Laboratory of Virology and Infectious Disease The Rockefeller University New York NY USA Department of Biochemistry and Center for RNA Science and Therapeutics Case Western Reserve University Cleveland OH USA Department of Surgery Weill Cornell Medical College New York NY USA Laboratory of Virology and Infectious Disease The Rockefeller University New York NY USA Department of pediatrics School of Me

Multisystem inflammatory syndrome in children(MIS-C)is a rare and severe condition that follows benign *** report autosomal recessive deficiencies of OAS1,OAS2,or RNASEL in five unrelated children with *** cytosolic d... 详细信息

关键词： inflammatory children multisystem

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pediatric-specifi c reference intervals in a nationally representative sample of Iranian children and adolescents: the CASPIAN-III study

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世界儿科杂志:英文版 2016年第3期12卷 335-342页

作者： Roya Kelishadi Hamid Reza Marateb Marjan Mansourian Gelayol Ardalan Ramin Heshmat Khosrow Adeli Department of pediatrics Child Growth and Development Research CenterResearch Institute for Primordial Prevention of Non Communicable DiseaseIsfahan University of Medical SciencesIsfahanIran Biomedical Engineering Department Engineering Facultythe University of IsfahanIsfahanIran Department of Biostatistics and Epidemiology Health SchoolIsfahan University of Medical SciencesIsfahanIran Epidemiology Department Chronic Diseases Research CentreEndocrinology and Metabolism Population Sciences InstituteEndocrinology and Metabolism Research InstituteTehran University of Medical SciencesTehranIran The Hospital for Sick Children University of TorontoTorontoOntarioCanada

Background:This study aimed to determine for the fi rst time the age-and gender-specific reference intervals for biomarkers of bone,metabolism,nutrition,and obesity in a nationally representative sample of the Iranian children and ***:We assessed the data of blood samples obtained from healthy Iranian children and adolescents,aged 7 to 19 *** reference intervals of glucose,lipid profile,liver enzymes,zinc,copper,chromium,magnesium,and 25-hydroxy vitamin D[25(OH)D]were determined according to the Clinical&Laboratory Standards Institute C28-A3 *** reference intervals were partitioned using the Harris–Boyd method according to age and ***:The study population consisted of 4800 school students(50%boys,mean age of 13.8 years).Twelve chemistry analyses were partitioned by age and gender,displaying the range of results between the 2.5th to 97.5th *** differences existed only between boys and girls at 18 to 19 years of age for low density lipoprotein-cholesterol.25(OH)D had the only reference interval that was similar to all age groups and both ***:This study presented the first national database of reference intervals for a number of biochemical markers in Iranian children and *** is the fi rst report of its kind from the Middle East and North *** fi ndings underscore the importance of providing reference intervals in different ethnicities and in various regions.

关键词： adolescents biomarkers chemistry pediatrics reference intervals

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Multi-Drug Resistant Acute Otitis Media amongst Children Attending Out-Patient Clinic in Chukwuemeka Odumegwu Ojukwu University Teaching Hospital, Awka, South-East Nigeria

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Advances in Microbiology 2016年第7期6卷 495-501页

作者： Shedrack Obiora Ejiofor Amarachi Divine Edeh Chijioke Elias Ezeudu Thaddeus Harrison Gugu Angus Nnamdi Oli Department of Paeditrics Chukwuemeka Odumegwu Ojukwu University Teaching Hospital Awka Nigeria Department of Pharmaceutical Microbiology and Biotechnology Faculty of Pharmaceutical Sciences Nnamdi Azikiwe University Awka Nigeria Department of Paeditrics College of Health Sciences Nnamdi Azikiwe University Nnewi Campus Nnewi Nigeria

Objective: The study assessed microbial etiology and multi-drug resistant profile of the pathogens isolated from children diagnosed of acute otitis media (AOM) at Chukwuemeka Odumegwu Ojukwu University Teaching Hospital, Awka. Method: Ear swab samples were collected aseptically from 40 children that visited the children out-patient clinic of the hospital. The samples were cultured within 20 minutes of collection and the isolates identified microbiologically. Antimicrobial susceptibility testing was done by Kirby-Bauer’s disc diffusion method. Results: A total of 2025 children visited the hospital during the study period and 40 (1.98%) had clinical diagnosis of acute otitis media. Ten (25%) of the 40 samples did not yield any microbial growth. Children aged ≤one year had the highest prevalence of AOM (55%). Staphylococcus aureus (34.9%) was the predominant bacteria isolate followed by Pseudomonas aeruginosa (30.2%) while Candida krusei (14%) was the predominant fungi isolate. All the bacterial isolates were resistant to ampicillin and coamoxiclav. Staphylococcus aureus isolates were marginally susceptible to gentamicin (60%) and sparfloxacin (73.3%). Pseudomonas aeruginosa, Escherichia coli and Staphylococcus aureus were resistant to ceftriaxone, ciprofloxacin, streptomycin, cefuroxime, erythromycin and azithromycin. Nystatin and voriconazole had comparable effect (60%) against the fungal isolates and fluconazole was ineffective. Conclusion: The incidence of multiple antibiotic resistant bacteria associated with acute otitis media in the pediatric patient was very high. Empiric treatment of the infection in the community should be discouraged. AOM preventive strategies should be targeted on the very young children to reduce the risk of recurrence.

关键词： Acute Otitis Media Antimicrobial Resistance Tertiary Health Institution Peadiatric Infection Low-Income Country

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Feasibility study of first-year medical students identifying cardiac anatomy using ultrasound in rural Panama

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World Journal of Emergency medicine 2015年第3期6卷 191-195页

作者： Brianna Miner Amanda Purdy Laura Curtis Kevin Simonson Caleb Shumway Jessa Baker Jessica Vaughan Kara Percival Olivia Sanchez Shadi Lahham Linda Joseph J Christian Fox School of medicine University of California Irvine Department of Emergency medicine University of California Irvine

BACKGROUND: There are over 15 million children who have cardiac anomalies around the world, resulting in a significant morbidity and mortality. Early recognition and treatment can improve the outcomes and lengthen life-expectancy of these patients. The NIH and WHO have promoted guidelines for screening for congenital cardiac anomalies using ultrasound in rural ***: Our study took place in Bocas Del Toro, Panama where a mobile clinic was established for community healthcare screening and ultrasonographic evaluation by medical student volunteers and volunteer clinical faculty. This was a non-blinded, investigational study utilizing a convenience sample of pediatric patients presenting for voluntary evaluation. Seven first-year medical students were recruited for the study. These students underwent a training program for advanced cardiac ultrasound instruction, termed "pediatric Echocardiography Cardiac Screening(PECS)".RESULTS: Ten patients were enrolled in the study. Nine patients had adequate images as defined by the PECS criteria and were all classified as normal cardiac pathology by the medical students, resulting in a sensitivity and specificity of 100%. A single patient was identified by medical students as having a pathologic pulmonic stenosis. This was confirmed as correct by a blinded ***: In this pilot study, the first-year medical students were able to correctly identify pediatric cardiac anatomy and pathology in rural Panama after undergoing a 12-hour ultrasound PECS training session. We believe that with this knowledge, minimally trained practitioners can be used to screen for cardiac anomalies in rural Panama using ultrasound.

关键词： Ultrasound Panama Rural medicine Medical education

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Analysis of Pneumonia Model via Efficient Computing Techniques

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Computers, Materials & Continua 2022年第3期70卷 6073-6088页

作者： Kamaledin Abodayeh Ali Raza Muhammad Rafiq Muhammad Shoaib Arif Muhammad Naveed Zunir Zeb Syed Zaheer Abbas Kiran Shahzadi Sana Sarwar Qasim Naveed Badar Ul Zaman Muhammad Mohsin Department of Mathematics and General Sciences Prince Sultan University Riyadh66833Saudi Arabia Department of Mathematics Govt.Maulana Zafar Ali Khan Graduate College Wazirabad52000Punjab Higher Education Department(PHED)Lahore54000Pakistan Department of Mathematics National College of Business Administration and Economics Lahore54660Pakistan Department of Mathematics Faculty of SciencesUniversity of Central PunjabLahore54500Pakistan Department of Mathematics Air UniversityIslamabad44000Pakistan Department of Mathematics Technische Universitat Chemnitz6209111Germany

Pneumonia is a highly transmissible disease in *** to the World Health Organization(WHO),the most affected regions include south Asia and sub-Saharan ***,15%of pediatric deaths can be attributed to *** techniques have a significant role in science,engineering,and many other *** this study,we focused on the efficiency of numerical techniques via computer *** studied the dynamics of the pneumonia-like infections of epidemic models using numerical *** discuss two types of analysis:dynamical and *** dynamical analysis included positivity,boundedness,local stability,reproduction number,and equilibria of the *** also discusswell-known computing techniques including Euler,Runge Kutta,and non-standard finite difference(NSFD)for the *** non-standard finite difference(NSFD)technique shows convergence to the true equilibrium points of the model for any time step ***,Euler and Runge Kutta do not work well over large time *** techniques are the suitable tool for crosschecking the theoretical analysis of the model.

关键词： Pneumonia disease epidemic model computing techniques convergence analysis

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Integrative single-cell analysis of cardiogenesis identifies developmental trajectories and non-coding mutations in congenital heart disease

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四川生理科学杂志 2022年第12期44卷 2229-2229页

作者： Mohamed Ameen Department of Cancer Biology Stanford University Stanford CA USA Department of Computer Science Stanford University Stanford CA USA Illumina Artificial Intelligence Laboratory Illumina Inc Foster City CA USA Cardiovascular Institute Stanford University Stanford CA USA Department of Physics Stanford University Stanford CA USA Department of Biomedical Informatics Stanford University Stanford CA USA Center for Stem Cell and Organoid medicine CuSTOM Division of Developmental Biology Cincinnati Children’s Hospital Medical Center Cincinnati OH USA Department of Computer Science California Institute of Technology Pasadena CA USA Department of Cardiothoracic Surgery Stanford University Stanford CA USA Department of Genetics Stanford University Stanford CA USA Department of Dermatology Stanford University School of Medicine Stanford CA USA Veterans Affairs Palo Alto Healthcare System Palo Alto CA USA Division of Cardiovascular medicine Stanford University School of Medicine Stanford CA USA Department of Applied Physics Stanford University Stanford CA USA

To define the multi-cellular epigenomic and transcriptional landscape of cardiac cellular development,we generated single-cell chromatin accessibility maps of human fetal heart *** identified eight major differentiation trajectories involving primary cardiac cell types,each associated with dynamic transcription factor(TF)activity signatures.

关键词： cardiac congenital fetal

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pediatric Nursing Care and Its Practices in Three Health Care Facilities

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Open Journal of Nursing 2020年第12期10卷 1275-1293页

作者： Daniel Muhayimana Doriane Arakaza David Ndayegamiye Jovithe Bamboneyeho Tkachuk Anna Edouard Niyongabo faculty of Health sciences Hope Africa University BI-Bujumbura Burundi University of the Incarnate Word San Antonio Texas USA Hope Africa University BI-Bujumbura Burundi Department of Public Health Sciences Easter Africa Health Center National Institute of Public Health (INSP) Bujumbura-Burundi

Introduction: pediatric nursing cares are among the most important care needed referring to the category of patients. A gap of the best practice in pediatric Nursing Care (PNC) had been publically a major problem of health and raises the rate of morbidity and mortality. The lack of nursing guidelines, low level of studies, experience at work and low economic status of Health Care Facilities (HCFs) were the main problems assessed in these three HCFs (HUCK, VNC and MHK) in this study. The purpose of this study is to assess the knowledge of nurses during their practices in pediatric Wards of HCFs and to provide a better contribution. Method: A descriptive study design was used in this study during the period of one month. 43, 25 and 30 nurses were selected among 98 nurses by using Dilman formula. A questionnaire with 5 parameters was distributed. Data were typed using Microsoft ward and analyzed using Statistical Package for Social Scientists version 16 software (SPSS). Results: The current study found that the majority of nurses don’t know to make the best nursing diagnosis neither the factors related to the implementation of EBP in PNC. The nurses have shown different barriers often met during their practices. The all process of nursing diagnosis was not recognized with the average of 97.6% of nurses. Conclusion: Even if the nurses have some experience at work they express their weakness based on low level of study, lack of knowledge and trained professionals on work and the pediatric nursing guidelines.

关键词： pediatric Nursing Nursing Theories pediatric Nurse Role of pediatric Nurse Evidence Based Practice

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Imaging Findings of Children Stroke in Burkina Faso and Etiological Approach

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Open Journal of Radiology 2019年第1期9卷 20-35页

作者： Bénilde Marie Ange Tiemtore-Kambou Prosper Précieux Sagbohan Dominique Bicaba Nina-Astrid Nde-Ouedraogo Zakari Nikiema Prosper David Lamien Adama Gnoumou Ousséï ni Diallo Rabiou Cisse faculty of Health Sciences Ouaga 1 Pr Joseph Ki-Zerbo University Ouagadougou Burkina Faso Bogodogo Teaching Hospital Ouagadougou Burkina Faso SanouSouroTeaching Hospital Bobo-Dioulasso Burkina Faso Yati Clinic Ouagadougou Burkina Faso Yalgado Ouedraogo Teaching Hospital Ouagadougou Burkina Faso

Introduction: Stroke is defined as a sudden onset focal neurological deficit of presumed vascular origin. Although it is essentially adult and elderly condition, stroke can occur in children. Their diagnosis essentially radiological is based on two main imaging modalities namely Computed Tomography (CT) and/or Magnetic Resonance Imaging (MRI). Our study aimed to study radiological features of stroke in children with an etiologic approach in three health facilities of Ouagadougou. Material and Method: We conducted a retrospective study with descriptive focus during 11-year period from January 1st, 2006 to September 1st, 2017 among children aged between 02 months and 16 years who underwent brain CT scan and/or MRI;in whom diagnosis of stroke had been established in radiology department of Yalgado Ouedraogo Teaching Hospital (CHU-YO), Schiphra Methodist Medical Center (CM Schipphra) and Saint Camille Hospital of Ouagadougou (HOSCO). Results: 40 cases of pediatric stroke were collected including 23 at HOSCO, 15 at CHU-YO and 03 at CM Schipphra. Mean age was 6.45 years, with extremes of 2 months and 192 months. Unilateral contralateral motor weakness was the most common clinical presentation (32.5%) followed by seizures (17.5%). Ischemic stroke dominated in 82.5% of cases. Sino-venous thrombosis was rare and suspected in only one case. Sylvian artery was mostly affected in ischemic stroke for 56.25% of patients. The main etiologic factors found were hematologic (67.50%) then infectious factors (25%). Sickle cell disease was always incriminated in hematologic factor. Homozygous SS patients were the most numerous (82%). Conclusion: Stroke diagnosis in children is based on etiologic investigation, biology with a major role of medical imaging. Sickle cell disease accounts a lot in occurrence of stroke in children in our context.

关键词： Stroke Children Brain CT/MRI Ouagadougou Burkina Faso

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Dolutegravir as First-or Second-Line Treatment for HIV-1 Infection in Children

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四川生理科学杂志 2021年第10期43卷 1670-1670页

作者： Anna Turkova From the Medical Research Council Clinical Trials Unit at University College London Institute of Clinical Trials and Methodology (A.T. E.W. S.A. T.S. B.W. C.S. D.F. D.M.G.) the University College London Great Ormond Street Institute of Child Health (N.K.) and the Department of Global Health and Development London School of Hygiene and Tropical Medicine (S.B.) London and Heartlands Hospital University Hospitals Birmingham NHS Foundation Trust Birmingham (S.B.W.) — all in the United Kingdom the University of Zimbabwe Harare (H.A.M. M.B.-D. G.M.) Baylor College of medicine Fort Portal (A.R.K. P.A. D.B.) the Joint Clinical Research Center Mbarara (A. Lugemwa S.M. L.A.) and the Joint Clinical Research Center (C.M.K. E.K. V.M.) Makerere University–Johns Hopkins University Research Collaboration (P.M. L.B.-M. G.M.A.) and Makerere University (V.M.) Kampala — all in Uganda the Perinatal HIV Research Unit University of the Witwatersrand Johannesburg (A.V. N.R. E.V. A. Liberty) the Family Centre for Research with Ubuntu the Department of Paediatrics and Child Health Stellenbosch University Tygerberg (M.F.C.) the Department of Paediatrics and Children Health King Edward VIII Hospital University of KwaZulu–Natal (M.A.) and the Africa Health Research Institute (O.B. N.K.) Durban — all in South Africa the Program for HIV Prevention and Treatment–Institut de Recherche pour le Développement Research Unit Faculty of Associated Medical Sciences Chiang Mai University Chiang Mai (T.R.C. S.C.) the Faculty of Medicine Chulalongkorn University (T.P.) and HIV-NAT (HIV Netherlands Australia Thailand Research Collaboration) Thai Red Cross AIDS Research Center Bangkok (T.P.) and Prapokklao Hospital Chanthaburi (C.N.) — all in Thailand the First Department of medicine Division of Infectious Diseases University Medical Center Hamburg–Eppendorf Hamburg Germany (R.K.) the Department of Pharmacy Radboud Institute for Health Sciences Radboud University Medical Center Nijmegen the

Results:From September 2016 through June 2018,a total of 707 children and adolescents who weighed at least 14 kg were randomly assigned to receive dolutegravir-based ART(350 participants)or standard care(357).The median age was 12.2 years(range,2.9 to 18.0),the median weight was 30.7 kg(range,14.0 to 85.0),and 49%of the participants were *** design,311 participants(44%)started first-line ART(with 92%of those in the standard-care group receiving efavirenz-based ART),and 396(56%)started second-line ART(with 98%of those in the standard-care group receiving boosted protease inhibitor-based ART).The median follow-up was 142 *** 96 weeks,47 participants in the dolutegravir group and 75 in the standard-care group had treatment failure(estimated probability,0.14 vs.0.22;difference,-0.08;95%confidence interval,-0.14 to-0.03;P=0.004).Treatment effects were similar with first-and second-line therapies(P=0.16 for heterogeneity).A total of 35 participants in the dolutegravir group and 40 in the standard-care group had at least one serious adverse event(P=0.53),and 73 and 86,respectively,had at least one adverse event of grade 3 or higher(P=0.24).At least one ART-modifying adverse event occurred in 5 participants in the dolutegravir group and in 17 in the standard-care group(P=0.01).

关键词： avi assigned boost

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Clinical and Therapeutic Evaluation of Hypertensives According to the Practice of Ambulatory Blood Pressure Measurement (ABPM) at the Bel Air International Clinic in Conakry from January 1, 2019 to November 30, 2022

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World Journal of Cardiovascular Diseases 2023年第6期13卷 327-332页

作者： Alpha Kone Fousseny Diakite Abel Mansaré Mahamoud Sama Cherif Mamadou Bassirou Bah Sana Samoura Souleymane Diakité Ibrahima Sory Barry Ibrahima Sory Sylla Elhadji Yaya Baldé Abdoulaye Bangoura Mariame Beavogui Mamadou Dadhi Baldé Mohamed Lamine Kaba faculty of Health Sciences and Techniques Gamal Abdel Nasser University of Conakry Conakry Guinea Bel Air International Clinic CIBA Conakry Guinea Cardiology Department of Sino-Guinean Hospital Conakry Guinea Donka National Hemodialysis Center Conakry Guinea Cardiology Department of National Hospital Ignace Deen Conakry Guinea

Introduction: Ambulatory Blood Pressure Measurement (ABPM) is a non- invasive examination recommended for subjects at high cardiovascular risk, and those requiring a nocturnal drop in BP such as elderly and obese subjects, those with secondary hypertension or resistant, diabetics, subjects with metabolic syndrome or sleep apnea syndrome. The objective of this study was to evaluate the contribution of ABPM in the diagnosis and evaluation of the level of control of hypertension under treatment at the Bel Air international clinic. Materials and Methods: This is a retrospective, cross-sectional and descriptive study, carried out at the Bel Air International Clinic in Conakry (Guinea) between January 2019 and November 30, 2022. It included a consecutive series of 180 consenting patients recruited through an ambulatory measurement of 24-hour blood pressure from a FUGADA brand device. Results: We collected 180 patients, with a male predominance (sex-ratio M/F = 2.46). The mean age of the patients was 48.48 ± 14.23 years. The most represented age group was that of 32 to 42 years with 50 cases (27.8%) followed by that of 43 to 52 years with 42 cases or 23.3%. The indication was for diagnostic purposes in 106 cases 58.9%, the therapeutic evaluation in 58 patients (32.2%). The examination was prescribed by a cardiologist in 98 cases (54.4%), a general practitioner in 71 cases (39.4%), a neurologist in 11 cases (6.1%). In the therapeutic evaluation, high blood pressure was controlled in 24 patients (13.3%) and uncontrolled in 34 cases (18.9%). In the diagnostic indication, high blood pressure was confirmed in 79 cases (43.9%) with a statistically significant link (Chi2 = 4.57 and p-value = 0.032). The nycthemeral mean was 187.27 ± 26.22 mmHg for systolic blood pressure (SBP) and 110.37 ± 19.06 mmHg for diastolic blood pressure (DBP), during the day, 151.64 ± 21.45 mmHg for SBP and 71.59 ± 8.67 mmHg for diastolic blood pressure. During the study 65 patients (36.1%) were id

关键词： Ambulatory Blood Pressure Measurement Guinea

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