Search results for "Ectasia"

showing 10 items of 60 documents

Glutathione levels in blood from ataxia telangiectasia patients suggest in vivo adaptive mechanisms to oxidative stress

2007

Objective: To evaluate an in vivo pro-oxidant state in patients with ataxia telangiectasia (AT). Methods: A set of oxidative stress endpoints were measured in 9 AT homozygotes, 16 AT heterozygotes (parents) and 83 controls (grouped in age ranges as for patients and parents, respectively). The following analytes were measured: (a) leukocyte 8-hydroxy-2-deoxyguanosine (8-OHdG); (b) blood glutathione (GSSG and GSH); and (c) plasma levels of glyoxal (Glx) and methylglyoxal (MGlx). Results: AT patients displayed a significant decrease in blood GSSG (p=0.012) and in MGlx plasma concentrations (P=0.012). A nonsignificant decrease in the GSSG:GSH ratio (p = 0.1) and a non-significant increase in 8-…

AdultMalemedicine.medical_specialtyAdolescentglyoxalClinical Biochemistryataxia telengiectasiamedicine.disease_causeAtaxia Telangiectasiachemistry.chemical_compoundIn vivoInternal medicinemethylglyoxalmedicineHumansataxia telangectasiaoxidative stressglutathioneChildoxidative streMethylglyoxalDeoxyguanosine8-Hydroxy-2'-deoxyguanosineHeterozygote advantageGeneral MedicineGlutathionePyruvaldehydemedicine.diseaseAdaptation Physiological8-Hydroxy-2'-deoxyguanosineEndocrinologychemistryBiochemistryChild PreschoolAtaxia-telangiectasiaFemaleataxia telangectasia; oxidative stress; glutathione; glyoxal; methylglyoxal; 8-Hydroxy-2'-deoxyguanosineOxidative stressTarget organDNA DamageClinical Biochemistry
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Different patterns of in vivo pro-oxidant states in a set of cancer- or aging-related genetic diseases

2008

A comparative evaluation is reported of pro-oxidant states in 82 patients with ataxia telangectasia (AT), Bloom syndrome (BS), Down syndrome (DS), Fanconi anemia (FA), Werner syndrome (WS), and xeroderma pigmentosum (XP) vs 98 control donors. These disorders display cancer proneness, and/or early aging, and/or other clinical features. The measured analytes were: (a) leukocyte and urinary 8-hydroxy-2'-deoxyguanosine (8-OHdG), (b) blood glutathione (GSSG and GSH), (c) plasma glyoxal (Glx) and methylglyoxal (MGlx), and (d) some plasma antioxidants [uric acid (UA) and ascorbic acid (AA)]. Leukocyte 8-OHdG levels ranked as follows: WS>BS approximately FA approximately XP>DS approximately AT appr…

AdultMalemedicine.medical_specialtyDown syndromeXeroderma pigmentosumAdolescentmedicine.disease_causeBiochemistrychemistry.chemical_compoundAtaxia TelangiectasiaPhysiology (medical)Internal medicinemedicineHumansBloom syndromeChildAgedXeroderma PigmentosumMethylglyoxalDeoxyguanosineGlutathioneGlyoxalMiddle AgedAscorbic acidmedicine.diseasePyruvaldehydeGlutathioneEndocrinologyFanconi AnemiaantioxidantschemistryBiochemistry8-Hydroxy-2'-DeoxyguanosineUric acidOxidative streFemaleWerner SyndromeDown SyndromeReactive Oxygen SpeciesOxidative stressBloom SyndromeDNA Damage
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Tuberculous aortitis in an human immunodeficiency virus-positive Ivorian migrant: A case report.

2021

We report an unusual case of a 35-year-old Ivorian migrant with an abdominal mass and medical history relevant for human immunodeficiency virus-2 positivity with a CD4/CD8 ratio of 0.63; Mantoux and lymphocyte stimulation tests (QuantiFERON) were positive. 3D-CT images revealed a voluminous non-homogeneous retroperitoneal mass in the right abdominal region presenting no significant contrast impregnation. Thoraco-abdominal aorta presented diffuse-altered morphology with multiple ectasias throughout its course and an aneurysm at the level of the subrenal tract. The patient underwent vascular surgery. Mycobacterium tuberculosis complex was detected by polymerase chain reaction performed on in…

Adultmedicine.medical_specialtyDermatologyQuantiFERONAneurysmTuberculous aortitisEctasiamedicinecase reportHumansTuberculosisPharmacology (medical)Medical history3D reconstructionextrapulmonary tuberculosiAortitisTransients and MigrantsbiologyAortitisbusiness.industryhuman immunodeficiency viruPublic Health Environmental and Occupational HealthHIVVascular surgerymedicine.diseasebiology.organism_classificationAbdominal massInfectious DiseasesCote d'IvoireMycobacterium tuberculosis complexRadiologymedicine.symptombusinessInternational journal of STDAIDS
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Expanding the clinical spectrum of late-onset Pompe disease: Dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered

2011

Abstract Purpose Cerebro-vascular arteriopathy has been reported in late-onset Pompe disease (LOPD). Evidence of increased aortic stiffness in some patients and smooth muscle involvement in LOPD raises the possibility of aortic involvement. Our aim was to determine if aortic arteriopathy may be a complication of LOPD. Methods One patient with LOPD was diagnosed with aortic dilatation at Duke Metabolic clinic, 4 others were diagnosed at University of Mainz, Germany, where chest X-ray and echocardiography are routinely done for patients. Other causes of aortic vascular disease were assessed. Results We report evidence of dilated arteriopathy involving primarily the ascending thoracic aorta in…

Adultmedicine.medical_specialtyEndocrinology Diabetes and MetabolismAortic DiseasesAorta ThoracicDissection (medical)030204 cardiovascular system & hematologyBiochemistry03 medical and health sciences0302 clinical medicineEndocrinologyBicuspid aortic valveEctasiamedicine.arteryInternal medicineAscending aortaGeneticsmedicineHumansThoracic aortaMolecular BiologyAortaGlycogen Storage Disease Type IIbusiness.industryVascular diseaseMiddle Agedmedicine.disease3. Good healthPhenotypeChild Preschoolcardiovascular systemCardiologyFemaleRadiologyComplicationbusiness030217 neurology & neurosurgeryDilatation PathologicMolecular Genetics and Metabolism
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Evaluation of the MGDRx eyebag treatment in young and older subjects with dry eye symptoms

2021

Summary Objectives This study aims to evaluate the relationship between application of the MGDRx thermal eyebag and dry eye signs and symptoms in young and older subjects and to compare the results between the two groups. Methods Thirty young, healthily volunteers between 18 and 31 years of age (23.95 ± 3.94 years) and thirty older subjects between 61 and 90 years of age (77.97 ± 8.11 years) participated in this study. Ocular surface parameters were assessed using the Oculus Keratograph 5 M, following the guidelines of the Tear Film and Ocular Surface Dry Eye Workshop II Diagnostic Methodology report. Only subjects with a positive score on at least one questionnaire and an initial Non-Invas…

Adultmedicine.medical_specialtySigns and symptomsYoung AdultSubjective improvementSurveys and QuestionnairesInternal medicinemedicineHumansTelangiectasiaVolunteerMassagebusiness.industryEyelidsMeibomian GlandsLipidseye diseasesTreatment periodOphthalmologymedicine.anatomical_structureTearsMixed-design analysis of varianceDry Eye Syndromessense organsEyelidmedicine.symptombusinessJournal Français d'Ophtalmologie
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MYCN sensitizes human neuroblastoma to apoptosis by HIPK2 activation through a DNA damage response.

2010

Abstract MYCN amplification occurs in approximately 20% of human neuroblastomas and is associated with early tumor progression and poor outcome, despite intensive multimodal treatment. However, MYCN overexpression also sensitizes neuroblastoma cells to apoptosis. Thus, uncovering the molecular mechanisms linking MYCN to apoptosis might contribute to designing more efficient therapies for MYCN-amplified tumors. Here we show that MYCN-dependent sensitization to apoptosis requires activation of p53 and its phosphorylation at serine 46. The p53S46 kinase HIPK2 accumulates on MYCN expression, and its depletion by RNA interference impairs p53S46 phosphorylation and apoptosis. Remarkably, MYCN ind…

Cancer ResearchApoptosisCell Cycle ProteinsAtaxia Telangiectasia Mutated ProteinsProtein-Serine-Threonine KinaseAtaxia Telangiectasia Mutated ProteinNeuroblastomaCell Cycle ProteinSerinePhosphorylationNuclear ProteinOncogene Proteinseducation.field_of_studyN-Myc Proto-Oncogene ProteinAntibiotics AntineoplasticKinaseOncogene ProteinNuclear ProteinsDNA-Binding ProteinsOncologyPhosphorylationRNA InterferenceHumanDNA damageDNA-Binding ProteinPopulationBlotting WesternBiologyProtein Serine-Threonine KinasesN-Myc Proto-Oncogene ProteinBleomycinNeuroblastomaCell Line TumormedicineHumanseducationneoplasmsMolecular BiologyTumor Suppressor ProteinTumor Suppressor ProteinsApoptosimedicine.diseaseTumor progressionApoptosisMutationCancer researchTumor Suppressor Protein p53Carrier ProteinCarrier ProteinsDNA DamageMolecular cancer research : MCR
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Artesunate induces oxidative DNA damage, sustained DNA double-strand breaks, and the ATM/ATR damage response in cancer cells.

2011

Abstract Artesunate, the active agent from Artemisia annua L. used in the traditional Chinese medicine, is being applied as a first-line drug for malaria treatment, and trials are ongoing that include this drug in cancer therapy. Despite increasing interest in its therapeutic application, the mode of cell killing provoked by artesunate in human cells is unknown. Here, we show that artesunate is a powerful inducer of oxidative DNA damage, giving rise to formamidopyrimidine DNA glycosylase–sensitive sites and the formation of 8-oxoguanine and 1,N6-ethenoadenine. Oxidative DNA damage was induced in LN-229 human glioblastoma cells dose dependently and was paralleled by cell death executed by ap…

Cancer ResearchProgrammed cell deathDNA RepairRAD51Drug Evaluation PreclinicalArtesunateApoptosisCell Cycle ProteinsAtaxia Telangiectasia Mutated ProteinsBiologyProtein Serine-Threonine KinasesModels Biologicalchemistry.chemical_compoundNeoplasmsTumor Cells CulturedHumansDNA Breaks Double-StrandedTumor Suppressor ProteinsMolecular biologyAntineoplastic Agents PhytogenicArtemisininsUp-RegulationNon-homologous end joiningDNA-Binding ProteinsOxidative StressCell killingOncologychemistryArtesunateApoptosisCancer cellHomologous recombinationDNA DamageMolecular cancer therapeutics
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ATRIP protects progenitor cells against DNA damage in vivo

2020

AbstractThe maintenance of genomic stability during the cell cycle of progenitor cells is essential for the faithful transmission of genetic information. Mutations in genes that ensure genome stability lead to human developmental syndromes. Mutations in Ataxia Telangiectasia and Rad3-related (ATR) or in ATR-interacting protein (ATRIP) lead to Seckel syndrome, which is characterized by developmental malformations and short life expectancy. While the roles of ATR in replicative stress response and chromosomal segregation are well established, it is unknown how ATRIP contributes to maintaining genomic stability in progenitor cells in vivo. Here, we generated the first mouse model to investigat…

CheckpointsProgrammed cell deathDNA damage[SDV]Life Sciences [q-bio]610 MedizinBiologyDNA replicationDNA damage responseArticle03 medical and health sciences0302 clinical medicine610 Medical sciencesmedicineProgenitor celllcsh:QH573-671GeneMitosisComputingMilieux_MISCELLANEOUSCell proliferation030304 developmental biology0303 health scienceslcsh:CytologyDisease modelCell cyclemedicine.diseaseCell biologyApoptosis030220 oncology & carcinogenesisAtaxia-telangiectasiaCell Death & Disease
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Apoptotic death induced by the cyclophosphamide analogue mafosfamide in human lymphoblastoid cells: Contribution of DNA replication, transcription in…

2007

Cyclophosphamide is one of the most often used anticancer drugs. Although DNA interstrand cross-links are considered responsible for its cytotoxicity, the mechanism of initiation and execution of cell death is largely unknown. Using the cyclophosphamide analogue mafosfamide, which does not need metabolic activation, we show that mafosfamide induces apoptosis dose and time dependently in lymphoblastoid cells, with clearly more apoptosis in p53(wt) cells. We identified two upstream processes that initiate apoptosis, DNA replication blockage and transcriptional inhibition. In lymphoblastoid cells, wherein DNA replication can be switched off by tetracycline, proliferation is required for induci…

DNA ReplicationProgrammed cell deathTime FactorsTranscription GeneticDNA damageDrug ResistanceAntineoplastic AgentsApoptosisCell Cycle ProteinsAtaxia Telangiectasia Mutated ProteinsProtein Serine-Threonine KinasesToxicologyCaspase-Dependent ApoptosisCell Linechemistry.chemical_compoundMafosfamideHumansCHEK1PhosphorylationCyclophosphamideCaspaseCell ProliferationPharmacologyDose-Response Relationship DrugbiologyTumor Suppressor ProteinsCell cycleDNA-Binding ProteinsCheckpoint Kinase 2chemistryApoptosisCaspasesCheckpoint Kinase 1Cancer researchbiology.proteinTumor Suppressor Protein p53Protein KinasesSignal TransductionToxicology and Applied Pharmacology
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Class 1 Histone Deacetylases and Ataxia-Telangiectasia Mutated Kinase Control the Survival of Murine Pancreatic Cancer Cells upon dNTP Depletion

2021

Pancreatic ductal adenocarcinoma (PDAC) is a highly aggressive disease with a dismal prognosis. Here, we show how an inhibition of de novo dNTP synthesis by the ribonucleotide reductase (RNR) inhibitor hydroxyurea and an inhibition of epigenetic modifiers of the histone deacetylase (HDAC) family affect short-term cultured primary murine PDAC cells. We used clinically relevant doses of hydroxyurea and the class 1 HDAC inhibitor entinostat. We analyzed the cells by flow cytometry and immunoblot. Regarding the induction of apoptosis and DNA replication stress, hydroxyurea and the novel RNR inhibitor COH29 are superior to the topoisomerase-1 inhibitor irinotecan which is used to treat PDAC. Ent…

DNA Replicationendocrine system diseasesDNA damagereplication stressQH301-705.5RNR Inhibitor COH29Antineoplastic AgentsCell Cycle ProteinsRNRAtaxia Telangiectasia Mutated ProteinsArticle03 medical and health scienceschemistry.chemical_compoundAtaxia TelangiectasiaMice0302 clinical medicineHDACAnimalscancerPDAC cellsRibonucleotide Reductase SubunitEnzyme InhibitorsBiology (General)030304 developmental biology0303 health sciencesbiologyChemistryEntinostatDNA replicationapoptosisGeneral Medicine3. Good healthPancreatic NeoplasmsHistoneRibonucleotide reductase030220 oncology & carcinogenesisATMbiology.proteinCancer researchDNA damageHistone deacetylaseCells
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