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The interplay mechanism between IDH mutation, MGMT-promoter methylation, and PRMT5 activity in the progression of grade 4 astrocytoma: unraveling the complex triad theory

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Oncology Research 2024年第6期32卷 1037-1045页

作者： MAHER KURDI ALAA ALKHOTANI ABDULRAHMAN SABBAGH EYAD FAIZO AHMED I.LARY AHMED K.BAMAGA MAJID ALMANSOURI BADR HAFIZ THAMER ALSHARIF SALEH BAEESA Department of Pathology Faculty of MedicineKing Abdulaziz UniversityRabighSaudi Arabia Department of Pathology College of MedicineUmm Al-Qura UniversityMakkahSaudi Arabia Department of Surgery Faculty of MedicineKing Abdulaziz UniversityJeddahSaudi Arabia Department of Surgery Faculty of MedicineUniversity of TabukTabukSaudi Arabia Section of Neurosurgery Department of SurgeryKing Abdulaziz Medical CityJeddahSaudi Arabia Department of pediatrics Faculty of MedicineKing Abdulaziz UniversityJeddahSaudi Arabia Department of Clinical Biochemistry Faculty of MedicineKing Abdulaziz UniversityJeddahSaudi Arabia Department of Neurosciences King Faisal Specialist Hospital and Research CenterJeddahSaudi Arabia Department of Surgery King Abdulaziz Specialist HospitalTaifSaudi Arabia

Background:The dysregulation of Isocitrate dehydrogenase(IDH)and the subsequent production of 2-Hydroxyglutrate(2HG)may alter the expression of epigenetic proteins in Grade 4 *** interplay mechanism between IDH,O-6-methylguanine-DNA methyltransferase(MGMT)-promoter methylation,and protein methyltransferase proteins-5(PRMT5)activity,with tumor progression has never been ***:A retrospective cohort of 34 patients with G4 astrocytoma is classified into IDH-mutant and IDH-wildtype *** groups were tested for MGMT-promoter methylation and PRMT5 through methylation-specific and gene expression PCR ***-cohort statistical significance was ***:Both IDH-mutant WHO grade 4 astrocytomas(n=22,64.7%)and IDH-wildtype glioblastomas(n=12,35.3%)had upregulated PRMT5 gene expression except in one *** of the 22 IDH-mutant tumors,10(45.5%)tumors showed MGMT-promoter methylation and 12(54.5%)tumors had unmethylated *** IDH-wildtype tumors had unmethylated *** was a statistically significant relationship between MGMT-promoter methylation and IDH in G4 astrocytoma(p-value=0.006).Statistically significant differences in progression-free survival(PFS)were also observed among all G4 astrocytomas that expressed PRMT5 and received either temozolomide(TMZ)or TMZ plus other chemotherapies,regardless of their IDH or MGMT-methylation status(p-value=0.0014).Specifically,IDH-mutant tumors that had upregulated PRMT5 activity and MGMT-promoter methylation,who received only TMZ,have exhibited longer ***:The relationship between PRMT5,MGMT-promoter,and IDH is not ***,accumulation of D2-hydroxyglutarate(2-HG),which partially activates 2-OG-dependent deoxygenase,may not affect their *** IDH-wildtype glioblastomas,the 2HG-2OG pathway is typically inactive,leading to PRMT5 *** alone,compared to TMZ-plus,can increase PFS in upregulated PRMT5 ***,using a PRMT5 inhibitor in G4

关键词： Grade 4 astrocytoma Glioblastoma Isocitrate dehydrogenase(IDH) O-6-methylguanine-DNA methyltransferase(MGMT) Protein methyltransferase proteins-5(PRMT5) Progression-free survival(PFS)

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Exploration of pathogenic microorganism within the small intestine of necrotizing enterocolitis

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World Journal of pediatrics 2024年第2期20卷 165-172页

作者： Yan Wang Kun Jiang Qiao Xia Xia Kang Shan Wang Ji-Hong Yu Wen-Feng Ni Xiao-Qin Qi Ying-Na Zhang Jin-Bao Han Gang Liu Lei Hou Zhi-Chun Feng Liu-Ming Huang Clinical Biobank Center Medical Innovation Research Division of ChinesePLA General HospitalBeijingChina Institute of Basic Medical Sciences Chinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingChina Senior Department of pediatrics The Seventh Medical Center of PLA General HospitalBeijing 100700China Department of Neurology The First Medical CenterChinese PLA General HospitalBeijing 100853China Department of emergency Center National Center for Children's HealthBeijing Children's HospitalCapital Medical UniversityBeijing 100045China

Background Necrotizing enterocolitis(NEC)is the most common severe gastrointestinal emergency in *** designed this study to identify the pathogenic microorganisms of NEC in the microbiota of the small intestine of *** Using the 16S ribosomal DNA(rDNA)sequencing method,we compared and analyzed the structure and diversity of microbiotas in the intestinal feces of different groups of neonates:patients undergoing jejunostomy to treat NEC(NP group),neonates undergoing jejunostomy to treat other conditions(NN group),and neonates with NEC undergoing conservative treatment(NC group).We took intestinal feces and saliva samples from patients at different time *** The beta diversities of the NP,NN,and NC groups were all *** comparing the beta diversities between different time points in the NP group,we found similar beta diversities at time points El to E3 but significant differences between the E2-E3 and E4 time points:the abundances of Klebsiella and Enterococcus(Proteobacteria)were higher at the E1-E3 time points;the abundance of Escherichia-Shigella(Proteobacteria)increased at the E2 time point,and the abundance of Klebsiella decreased significantly,whereas that of Streptococcus increased significantly at the E4 time *** Our results suggest that the pathological changes of intestinal necrosis in the small intestine of infants with NEC are not directly caused by excessive proliferation of pathogenic bacteria in the small *** sources of microbiota in the small intestine of neonates,especially in premature infants,may be affected by multiple factors.

关键词： Microbiota Necrotizing enterocolitis-Small intestine 16S rDNA

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Exome sequencing identifies a likely causative variant in 53%of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions

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Genes & Diseases 2024年第5期11卷 40-43页

作者： Konstantin Deutsch Verena Klambt Thomas M.Kitzler Tilman Jobst-Schwan Ronen Schneider Florian Buerger Steve Seltzsam Sherif El Desoky Jameela A.Kari Farkhanda Hafeez Maria Szczepanska Loai A.Eid Hazem S.Awad Muna Al-Saffar Neveen A.Soliman Velibor Tasic Camille Nicolas-Frank Kirollos Yousef Luca M.Schierbaum Sophia Schneider Abdul Halawi Izzeldin Elmubarak Katharina Lemberg Shirlee Shril Shrikant M.Mane Nancy Rodig Friedhelm Hildebrandt Division of Nephrology Department of PediatricsBoston Children’s HospitalHarvard Medical SchoolBostonMA 02215USA Department of Pediatric Gastroenterology Nephrology and Metabolic DiseasesCharite Universitatsmedizin BerlinBerlin 13353Germany Berlin Institute of Health at Charitee Universitatsmedizin Berlin BIH Biomedical Innovation AcademyBIH Charite Clinician Scientist ProgramBerlin 10178Germany Department of Nephrology and Hypertension FriedrichAlexander-Universitat Erlangen-NurnbergErlangen 91054Germany Department of pediatrics Faculty of Medicine King Abdulaziz UniversityPediatric Nephrology Center of ExcellenceKing Abdulaziz University HospitalJeddah 21589Saudi Arabia Department of Pediatric Nephrology The Children’s Hospital and Institute of Child HealthLahore 54000Pakistan Department of pediatrics Faculty of Medical Sciences in ZabrzeMedical University of Silesia in KatowiceKatowice 40-752Poland Dubai hospital and Al-Jalila Children’s Specialty hospital Kidney Center of ExcellenceDubai 4545United Arab Emirates Department of Genetics and Genomics UAE UniversityAbu Dhabi 15551United Arab Emirates Department of pediatrics Division of Genetics and GenomicsBoston Children’s HospitalHarvard Medical SchoolBostonMA 02215USA Department of pediatrics Center of Pediatric Nephrology and TransplantationKasr Al Ainy School of MedicineCairo UniversityCairo 11562Egypt Egypt Center for Research and Regenerative Medicine(ECRRM) Cairo 11511Egypt Medical Faculty Skopje University Children’s HospitalSkopje 1000North Macedonia Department of Genetics Yale University School of MedicineNew HavenCT 06520USA

Nephronophthisis-related ciliopathies(NPHP-RC)represent one of the most common causes of chronic kidney disease in the first three decades of life and are characterized by a broad genetic and clinical heterogeneity.1 To date,more than 90 genes have been identified that cause autosomalrecessive NPHP-RC if mutated,accounting for up to 60%of cases.1 Among these,homozygous deletions of NPHP1 are the most common *** genes localize to primary cilia,basal bodies,or the centrosome and lead to a primary ciliary disruption if mutated,thereby causing a broad phenotypical spectrum.1 Patients that suffer from NPHP-RC can either have an isolated renal phenotype,such as polyuria,polydipsia,decreased urinary concentration ability,and secondary enuresis due to loss of tubular function,or present with extrarenal symptoms including retinal degeneration,cerebellar vermis hypoplasia,or hepatic *** are often diagnosed in early adolescence,reaching end-stage renal disease before 25 years of age,but early onset and rapidly progressive forms of NPHP-RC also exist.1 Renal ultrasound indicates kidneys of normal or reduced renal length with increased echogenicity and corticomedullary cysts.

关键词： degeneration urinary likely

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Knowledge, Attitude, and Practice of Using Helmets in Children amongst Parents to Prevent Head Injuries: A Cross-Sectional Study in Riyadh, Saudi Arabia

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Open Journal of pediatrics 2024年第2期14卷 255-265页

作者： Turki Salah Aldeen Bukhari Abdullah Yahya Aldhban Anas Abdulrahman Alqasem Dona Jamal Al Hatlani Hareth Aldosaimani Hamad A. Al Madi Khalid Alqahtani Prince Sultan Military Medical City Riyadh Saudi Arabia emergency Department Disaster Medicine and Emergency Preparedness Prince Sultan Military Medical City Riyadh Saudi Arabia emergency Department Asir Central Hospital Abha Saudi Arabia

Objectives: The primary objective was to characterize the range of Knowledge, Attitude, and Practice (KAP) of Helmet use in children amongst parents to prevent head injuries and death. Methods: This is a cross-sectional study, done by online survey using a snowball sampling technique, the number of included responses were 386 parents (Male and female) living in Riyadh Aged 21 - 60 years old or above. Results: The study showed that there is a difference in Parents’ belief in the importance of helmet use while riding a Bicycle vs Motorcycle/Quad bike and that was affected by parents’ education level, almost all the people who answered the survey (76.7%) agree that it is important for their children to wear a helmet when riding both a Bicycle and a Motorcycle or Quadbike with a cumulative percentage of (93.8%). And almost all agreed on multiple approaches to help increase helmet use be it by forcing rental shops to give out helmets, forcing sellers to recommend the use of helmets, increasing awareness campaigns, and imposing fines for not wearing helmets. Conclusions: This study is the first to explore Family helmet use while riding Bicycles and Motorcycles/Quad bikes. Although Parent’s belief in the importance of helmet use for their children was high, it is clear that the level of practice is low. With that the risk of head injuries might be high, our findings suggest that safety interventions for increasing pediatric helmet use are needed to increase helmet use and reduce the risk of head injury and hospitalization.

关键词： Head Trauma Head Injury Helmet Bicycle Motorcycle Quad Bike KAP Knowledge Attitude Practice

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Cases Report of a Medication Error by Look-A-Like Packaging: Metoclopramide and Paracetamol Suppositories

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Open Journal of pediatrics 2023年第1期13卷 82-85页

作者： Abdulsalam Nayer Alsulami Reem Fareed Aldeijy Elsharif A. Bazie pediatrics emergency consultant-east jeddah hospital Jeddah Saudi Arabia General Physician-east jeddah hospital Jeddah Saudi Arabia pediatrics emergency Physician-Security Forces hospital Riyadh Saudi Arabia

Medication errors are Unlike adverse drug reactions (ADRs) or adverse drug events (ADEs);mistakes by healthcare personnel cause them. We reported two cases of developed symptoms of Metoclopramide over-dose. Metoclopramide was given as Paracetamol due to look-a-like packaging. In emergency Departments, reviewing the patient’s medications to prevent look-a-like complications should be done for all patients with suspected drug toxicity.

关键词： Look-A-Like Metoclopramide Paracetamol Children Saudi Arabia

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Attitudes and Practices of Lumbar Puncture among Students, Interns, and Residents of the Pediatric Department of the Mohammed VI University hospital Center of Oujda, Morocco

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Open Journal of pediatrics 2024年第3期14卷 598-608页

作者： Hasnae Elhaddadi Ayyad Ghanam Hind Zahiri Amal Hamami Aziza Elouali Abdeladim Babakhouya Maria Rkain Department of pediatrics University Hospital Center Mohammed VI Oujda Morocco Faculty of Medicine and Pharmacy Mohammed First University Oujda Morocco

Introduction: Even though lumbar puncture (LP) represents an important tool in the diagnosis of certain neurological diseases, this procedure is little practiced by our students. We aimed to evaluate the attitudes and practices of students, interns, and residents about LP, and to assess their feelings about how this procedure is taught. Materials and Methods: We conducted a cross-sectional study of 160 participants, using an anonymous questionnaire, to evaluate the attitudes and practices of students, interns and residents in the pediatrics department concerning lumbar puncture. Results: Half of the participants had never performed LP, usually because of the risk involved or lack of confidence, while 20% had performed it more than 4 times. None of the participants had learned to perform the procedure through simulation sessions, while (42%) had learned it under the supervision of a senior physician and had not been able to perform it successfully the first time. Most participants inform the patient about the procedure before performing it. Only 44% of participants acknowledged that LP can be performed under local anesthetic. The sitting position (60%) was by far the most commonly used. Most LPs were performed for diagnostic purposes. Most participants stated that the pediatric ward and the pediatric emergency department are among the departments that perform LP most frequently, and that they would be interested in taking part in simulated lumbar puncture sessions in children in the future. Conclusion: The results of our study show that LP is perceived by students as a risky procedure that is difficult to perform. Teachers should reconsider how this technical procedure is taught, by integrating simulation on mannequins into student training.

关键词： Lumbar Puncture Learning Healthcare Simulation Stress Clinical Competency

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How completely are randomized controlled trials of non-pharmacological interventions following concussion reported? A systematic review

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Journal of Sport and Health Science 2024年第4期13卷 537-547页

作者： Jacqueline Josee van Ierssel Olivia Galea Kirsten Holte Caroline Luszawski Elizabeth Jenkins Jennifer O’Neil Carolyn A Emery Rebekah Mannix Kathryn Schneider Keith Owen Yeates Roger Zemek Children’s hospital of eastern Ontario Research Institute OttawaON K1H 8L1Canada The Centre for Health Activity and Rehabilitation ResearchUniversity of OtagoDunedin 9016New Zealand Sport Injury Prevention Research Centre Faculty of KinesiologyUniversity of CalgaryCalgaryAB T2N 1N4Canada Alberta Children’s hospital Research Institute University of Calgary CalgaryAB T2N 1N4Canada Hotchkiss Brain Institute University of CalgaryCalgaryAB T2N 4N1Canada Department of Psychology University of CalgaryCalgaryAB T2N 1N4Canada g Faculty of MedicineUniversity of OttawaOttawaON K1H 8M5Canada School of Rehabilitation Sciences University of OttawaOttawaON K1H 8M5Canada Bruyere Research Institute OttawaON K1N 5C8Canada Departments of pediatrics and emergency Medicine Harvard Medical SchoolBostonMA 02115USA Departments of pediatrics and emergency Medicine University of OttawaOttawaON K1H 8M5Canada

Purpose:The study aimed to examine the reporting completeness of randomized controlled trials(RCTs)of non-pharmacological interventions following ***:We searched MEDLINE,Embase,PsycInfo,CINAHL,and Web of Science up to May *** reviewers independently screened studies and assessed reporting completeness using the Template for Intervention Description and Replication(TIDieR),Consensus on Exercise Reporting Template(CERT),and international Consensus on Therapeutic Exercise aNd Training(i-CONTENT)*** information was sought my study authors where reporting was *** of bias(ROB)was assessed with the Cochrane ROB-2 *** examining non-pharmacological interventions following ***:We included 89 RCTs(n=53 high ROB)examining 11 different interventions for concussion:sub-symptom threshold aerobic exercise,cervicovestibular therapy,physical/cognitive rest,vision therapy,education,psychotherapy,hyperbaric oxygen therapy,transcranial magnetic stimulation,blue light therapy,osteopathic manipulation,and head/neck *** scores were:TIDieR 9/12(75%;interquartile range(IQR)=5;range:5-12),CERT 17/19(89%;IQR=2;range:10-19),and i-CONTENT 6/7(86%;IQR=1;range:5-7).Percentage of studies completely reporting all items was TIDieR 35%(31/89),CERT 24%(5/21),and i-CONTENT 10%(2/21).Studies were more completely reported after publication of TIDieR(t_(87)=2.08;p=0.04)and CERT(t_(19)=2.72;p=0.01).Reporting completeness was not strongly associated with journal impact factor(TIDieR:rs=0.27;p=0.01;CERT:r_(s)=-0.44;p=0.06;i-CONTENT:r_(s)=-0.17;p=0.48)or ROB(TIDieR:rs=0.11;p=0.31;CERT:rs=0.04;p=0.86;i-CONTENT:rs=0.12;p=0.60).Conclusion:RCTs of non-pharmacological interventions following concussion demonstrate moderate to good reporting completeness,but are often missing key components,particularly modifications,motivational strategies,and qualified *** completeness improved after TIDieR and CERT publication,but p

关键词： Concussion Intervention Randomized controlled trial Systematic review

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Is it a normal phenomenon for pediatric patients to have brain leptomeningeal contrast enhancement on 3-tesla magnetic resonance imaging?

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World Journal of Radiology 2024年第5期16卷 136-138页

作者： Min Ai Hang-Hang Zhang Yi Guo Jun-Bang Feng Department of Anesthesiology Nanan District People’s Hospital of ChongqingChongqing 400060China Department of Breast and Thyroid Surgery Chongqing Bishan District Maternal and Child Health Care HospitalChongqing 402760China Medical Imaging Department Chongqing University Central Hospital(Chongqing Emergency Medical Center)Chongqing 400014China

Determining whether sevoflurane sedation in children leads to“pseudo”prominent leptomeningeal contrast enhancement(pLMCE)on 3 Tesla magnetic resonance imaging will help reduce overdiagnosis by radiologists and clari... 详细信息

关键词： pediatrics patients Sevoflurane Brain Prominent leptomeningeal contrast enhancement Magnetic resonance imaging

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Urinary Tract Infection in Pediatric emergency Department of Mohamed VI hospital in Marrakech: Epidemiological Profile and Antibiotic Resistance

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Journal of Biosciences and Medicines 2024年第6期12卷 85-93页

作者： Radia Laanait Soufiane Elmoussaoui Widad Lahmini Mounir Bourrous Pediatric emergency Department Mother and child hospital University Hospital Mohammed VI Marrakesh Morocco Laboratory Childhood Health and Development Faculty of Medicine and Pharmacy Cadi Ayyad University Marrakech Morocco Laboratory for Infectious Disease Control Faculty of Medicine and Pharmacy Cadi Ayad University Marrakech Morocco

Background: Urinary tract infection (UTI) is one of the most frequent bacterial infections in pediatrics. The aim of our work was to establish the epidemiological and bacteriological profile of UTIs in children and then to study the sensitivity of the bacterial strains isolated to antibiotics. Materials and methods: This is a retrospective descriptive study over 3 years (2019-2022), including all cytobacteriological examination of urine (CBEU), performed in children aged 3 months to 14 years, admitted and treated for UTI, in the pediatric emergency department of Mohamed VI University hospital. Results: A total of 239 children were included in our study. The mean age was 26 months. The sex ratio was 1.08. Escherichia coli was the most isolated bacterial strain in 79% of samples. The tested strains showed a high level of sensitivity to susceptibility rate toward amikacin (91%) and ciprofloxacin (100%) and whereas the level of resistance was high to the most current recommended antibiotics, mainly beta-lactams. Management was based, in severe forms of pyelonephritis, dual antibiotic therapy based on Third-generation cephalosporins combined with gentamycin. Favorable outcome was noted in 94% of children. Conclusion: Awareness-raising on the proper use of antibiotics, issuing national recommendations for the treatment of urinary tract infections in order to standardize therapeutic regimens is strongly recommended. Effective control of these infections requires a global prevention strategy that implies close collaboration between epidemiologists, clinicians, bacteriologists, hygienists and the health care team.

关键词： Child Urinary Tract Infection Bacteria Antibiotics Resistances

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Child Victims of Road Traffic Accidents: Epidemiological and Clinical Aspects in the Medical and Surgical emergency Department of the Donka National hospital

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Case Reports in Clinical Medicine 2024年第3期13卷 63-72页

作者： Ibrahima Sory Diallo Mamadou Moustapha Diop Amadou Oury Toure Mamadou Aliou Doukouré Aîssata Barry M’mah Aminata Bangoura Mariama Sadjo Diallo Abdoulaye Oumare Diallo Salimatou Hassimiou Camara Thierno Mamadou Aliou Touré Ouo Ouo Kolié Mohamed Lamine Diallo Fatoumata Binta Diallo Ibrahima Sory Souaré Institute of Child Nutrition and Health Conakry Guinea Department of pediatrics Donka National Hospital Conakry Guinea UNICEF-Guinea Community Health Section Conakry Guinea Gamal Abdel Nasser University of Conakry Conakry Guinea

Introduction: Children involved in road accidents most often suffer head or limb injuries. The severity of these injuries varies according to the age of the child, the type of road user and whether or not protective devices are used. The aim of this study was to carry out a census of admissions and to identify the epidemiological and clinical profile of children involved in road traffic accidents at Donka National hospital. Methods: This is a descriptive cross-sectional study of children involved in traffic accidents over a 3-month period from September 1 to November 30, 2021. All children admitted to the emergency department for a traffic accident were included in the study. Results: During the study period, 435/530 children (82.1%) were victims of road accidents. Boys accounted for 54.94% of cases, compared with 45.06% for girls. The age group most affected was 12-17 years old (48.97%). October had the highest accident rate (36.4%). Pedestrians are most affected (52.87%). Bicycles and mopeds were involved in 59.77% of accidents. Head injury was the most frequent pathology (33.33%). The study showed that 12.64% of victims were referred to intensive care, pediatric surgery, etc. We recorded 8 cases of death (1.84%). Conclusion: This study highlighted the characteristics, incidence and risk factors for accidents in children admitted to emergency departments. Accident prevention, particularly serious accidents in children, requires more precise knowledge of the factors and circumstances leading to their occurrence.

关键词： Child Accident Public Highway Donka

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