Search results for "Myc"

showing 10 items of 3773 documents

Bcl-xL knockout attenuates mitochondrial respiration and causes oxidative stress that is compensated by pentose phosphate pathway activity

2017

Bcl-xL is an anti-apoptotic protein that localizes to the outer mitochondrial membrane and influences mitochondrial bioenergetics by controlling Ca2+ influx into mitochondria. Here, we analyzed the effect of mitochondrial Bcl-xL on mitochondrial shape and function in knockout (KO), wild type and rescued mouse embryonic fibroblast cell lines. Mitochondria of KO cells were more fragmented, exhibited a reduced ATP concentration, and reduced oxidative phosphorylation (OXPHOS) suggesting an increased importance of ATP generation by other means. Under steady-state conditions, acidification of the growth medium as a readout for glycolysis was similar, but upon inhibition of ATP synthase with oligo…

0301 basic medicineOligomycinBioenergeticsOxidative phosphorylationBH4 DOMAINMitochondrionPentose phosphate pathwaymedicine.disease_causeBiochemistryCYTOCHROME-C03 medical and health scienceschemistry.chemical_compoundCHANNEL VDAC0302 clinical medicinePhysiology (medical)BCL-XLmedicineJournal ArticleGlycolysisRELEASEATP synthasebiologyGLUCOSE-METABOLISMFISSIONAPOPTOSIS030104 developmental biologyBiochemistrychemistryCELLSbiology.proteinMEMBRANE030217 neurology & neurosurgeryOxidative stressFree Radical Biology and Medicine
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Genomic Amplifications and Distal 6q Loss: Novel Markers for Poor Survival in High-risk Neuroblastoma Patients.

2018

Abstract Background Neuroblastoma is characterized by substantial clinical heterogeneity. Despite intensive treatment, the survival rates of high-risk neuroblastoma patients are still disappointingly low. Somatic chromosomal copy number aberrations have been shown to be associated with patient outcome, particularly in low- and intermediate-risk neuroblastoma patients. To improve outcome prediction in high-risk neuroblastoma, we aimed to design a prognostic classification method based on copy number aberrations. Methods In an international collaboration, normalized high-resolution DNA copy number data (arrayCGH and SNP arrays) from 556 high-risk neuroblastomas obtained at diagnosis were coll…

0301 basic medicineOncologyCancer ResearchSomatic cellNeuroblastoma0302 clinical medicineGene duplicationMedicine and Health SciencesHigh risk neuroblastomaN-Myc Proto-Oncogene ProteinABNORMALITIESIntensive treatmentGenomicsArticlesPrognosis3. Good healthOncologyChild Preschool030220 oncology & carcinogenesisChromosomes Human Pair 6Chromosome DeletionINTEGRATIONmedicine.medical_specialtyDNA Copy Number VariationsCLASSIFICATION03 medical and health sciencesAGEInternal medicineNeuroblastomaSTRATIFICATIONClinical heterogeneityBiomarkers TumormedicineHumansGenetic Predisposition to DiseaseCopy number aberrationneoplasmsGenetic Association StudiesNeoplasm StagingACCUMULATIONbusiness.industryOUTCOME PREDICTIONGene AmplificationInfantBiology and Life SciencesDNAmedicine.diseaseDELINEATION030104 developmental biologyCOPY NUMBEROutcome predictionbusiness
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Compassionate use of everolimus for refractory epilepsy in a patient with MTOR mosaic mutation

2020

Abstract The MTOR gene encodes the mechanistic target of rapamycin (mTOR), which is a core component of the PI3K-AKT-mTOR signaling pathway. Postzygotic MTOR variants result in various mosaic phenotypes, referred to in OMIM as Smith-Kinsgmore syndrome or focal cortical dysplasia. We report here the case of a patient, with an MTOR mosaic gain-of-function variant (p.Glu2419Lys) in the DNA of 41% skin cells, who received compassionate off-label treatment with everolimus for refractory epilepsy. This 12-year-old-girl presented with psychomotor regression, intractable seizures, hypopigmentation along Blaschko's lines (hypomelanosis of Ito), asymmetric regional body overgrowth, and ocular anomali…

0301 basic medicineOncologyCompassionate Use Trialsmedicine.medical_specialty[SDV]Life Sciences [q-bio]030105 genetics & heredityMuscle hypertrophyCraniofacial Abnormalities03 medical and health sciencesInternal medicineGeneticsmedicineHumansEverolimusChildMechanistic target of rapamycinProtein Kinase InhibitorsGenetics (clinical)PI3K/AKT/mTOR pathwayHypopigmentationEverolimusbiologybusiness.industryMosaicismTOR Serine-Threonine KinasesNeuropsychologyGeneral MedicineCortical dysplasiamedicine.disease3. Good healthClinical trialMalformations of Cortical Development[SDV] Life Sciences [q-bio]030104 developmental biologyPhenotypeGain of Function Mutationbiology.proteinFemaleEpilepsies Partialmedicine.symptombusinessmedicine.drug
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Decreased Time to Treatment Initiation for Multidrug-Resistant Tuberculosis Patients after Use of Xpert MTB/RIF Test, Latvia

2016

This test decreased time to treatment initiation by 66%–84%.

0301 basic medicineOncologyMaleEpidemiologylcsh:Medicine0302 clinical medicine1108 Medical MicrobiologyTuberculosis Multidrug-Resistant030212 general & internal medicinebacteriaDecreased Time to Treatment Initiation for Multidrug-Resistant Tuberculosis Patients after Use of Xpert MTB/RIF Test Latviabiologytime to treatment initiationDrug Resistance MicrobialMiddle Agedmultidrug-resistant tuberculosisRifampin resistanceInfectious Diseases1117 Public Health And Health ServicesTuberculosis Multidrug-Resistant/diagnosisFemaleRifampinLife Sciences & BiomedicineMicrobiology (medical)Adultmedicine.medical_specialtyTuberculosisAdolescentpulmonary030106 microbiologyXpert MTB/RIFImmunologyTime to treatmentMicrobiologylcsh:Infectious and parasitic diseasesTime-to-TreatmentMycobacterium tuberculosismolecular diagnostics03 medical and health sciencesYoung AdultAntibiotic resistancemultidrug resistanceInternal medicinemedicineHumanslcsh:RC109-216Multivariable modelantimicrobial resistanceTuberculin testAntibiotics AntitubercularScience & Technologybusiness.industryTuberculin TestResearchlcsh:RMycobacterium tuberculosis/drug effects1103 Clinical SciencesMycobacterium tuberculosisbiology.organism_classificationmedicine.diseaseAntibiotics Antitubercular/pharmacologyLatviatuberculosis and other mycobacteriaMultiple drug resistanceMODELTuberculin Test/methodsbusinessRifampin/pharmacologyMDR TB
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Treatment of invasive fungal diseases in cancer patients—Revised 2019 Recommendations of the Infectious Diseases Working Party (AGIHO) of the German …

2020

Background Invasive fungal diseases remain a major cause of morbidity and mortality in cancer patients undergoing intensive cytotoxic therapy. The choice of the most appropriate antifungal treatment (AFT) depends on the fungal species suspected or identified, the patient's risk factors (eg length and depth of granulocytopenia) and the expected side effects. Objectives Since the last edition of recommendations for 'Treatment of invasive fungal infections in cancer patients' of the Infectious Diseases Working Party (AGIHO) of the German Society of Hematology and Medical Oncology (DGHO) in 2013, treatment strategies were gradually moving away from solely empirical therapy of presumed or possib…

0301 basic medicineOncologymedicine.medical_specialtyAntifungal Agents030106 microbiologyMedizinDermatologyNeutropeniaAspergillosis030207 dermatology & venereal diseases03 medical and health sciencesImmunocompromised Host0302 clinical medicineInternal medicineNeoplasmsmedicineHumansHematologybusiness.industryMucormycosisCancerGeneral MedicineGuidelineEvidence-based medicineHematologymedicine.diseaseClinical trialInfectious DiseasesHematologic NeoplasmsPractice Guidelines as TopicbusinessInvasive Fungal InfectionsAgranulocytosis
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Parasites in the changing world – Ten timely examples from the Nordic-Baltic region

2020

Publisher's version (útgefin grein)

0301 basic medicineOriginal Research articleEpidemiologyHost030231 tropical medicineClimate change:Basale biofag: 470 [VDP]Baseline data030108 mycology & parasitologylcsh:Infectious and parasitic diseasesPeer reviewEuropeParasite03 medical and health sciencesSníklar0302 clinical medicineInfectious DiseasesGeography:Basic biosciences: 470 [VDP]Climate changelcsh:RC109-216ParasitologyLoftslagsbreytingarEnvironmental planningSelection (genetic algorithm)
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Morphological and molecular characterization of Paragonimus caliensis Little, 1968 (Trematoda: Paragonimidae) from Medellin and Pichinde, Colombia

2018

Paragonimiasis is a subacute to chronic inflammatory granulomatous lung disease caused by the genus Paragonimus. In Latin America Paragonimus mexicanus Miyazaki & Ishii, 1968 is the only confirmed species to cause human infections. Paragonimus caliensis Little, 1968 is an uncommon species often regarded as a synonym of P. mexicanus. Recently, the study of two types of Paragonimus metacercariae from Costa Rica has provided new molecular and morphological evidence that P. caliensis is a separate species from P. mexicanus. In the present study, molecular, morphological and phylogenetic tools have been used to characterize two populations of Paragonimus located at west of Medellin, Antioquia an…

0301 basic medicineParagonimiasisBrachyuraLung Diseases ParasiticVeterinary (miscellaneous)030231 tropical medicineParagonimusZoologyColombiaBiology03 medical and health sciences0302 clinical medicineCommon speciesPhylogeneticsParagonimusDNA Ribosomal Spacerparasitic diseasesmedicineAnimalsHumansMetacercariaePhylogenyParagonimiasisPhylogenetic treeHolotypeSequence Analysis DNADNA Helminth030108 mycology & parasitologymedicine.diseasebiology.organism_classificationInfectious DiseasesInsect ScienceMicroscopy Electron ScanningParasitologyType localityTrematodaActa Tropica
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Unusual presentation of blastic plasmacytoid dendritic cell neoplasm: Pitfalls in other hematolymphoid neoplasms

2020

Abstract Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare CD4+/CD56+ hematological malignancy with aggressive clinical course and poor prognosis. Histologically, BPDCN is characterized by a diffuse, monomorphous infiltration of cutaneous, subcutaneous, and sometimes other tissues such as lymph nodes and bone marrow, by medium-sized neoplastic cells with blastoid morphology. Typically, there is absence of lymphocytic infiltrate. Diagnosis relies on immunophenotypic expression of CD4, CD56, and the more specific markers of plasmacytoid dendritic cells CD123, CD303/BDCA2, and TCL1. We report a case of a 57-year-old man who presented a 4 cm-long solitary, erythemateous lesion on t…

0301 basic medicinePathologymedicine.medical_specialtyMyeloidMYCASXL1BlastoidPathology and Forensic MedicineLymphocytic Infiltrate03 medical and health sciences0302 clinical medicineBlastic plasmacytoid dendritic cell neoplasmT-cells infiltrationlcsh:PathologyMedicineTET2biologybusiness.industryETV6medicine.diseasebiology.organism_classificationLymphomaETV6030104 developmental biologymedicine.anatomical_structure030220 oncology & carcinogenesisInterleukin-3 receptorBone marrowbusinessInfiltration (medical)lcsh:RB1-214Human Pathology: Case Reports
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Population pharmacokinetic meta-analysis of individual data to design the first randomized efficacy trial of vancomycin in neonates and young infants.

2019

Abstract Objectives In the absence of consensus, the present meta-analysis was performed to determine an optimal dosing regimen of vancomycin for neonates. Methods A ‘meta-model’ with 4894 concentrations from 1631 neonates was built using NONMEM, and Monte Carlo simulations were performed to design an optimal intermittent infusion, aiming to reach a target AUC0–24 of 400 mg·h/L at steady-state in at least 80% of neonates. Results A two-compartment model best fitted the data. Current weight, postmenstrual age (PMA) and serum creatinine were the significant covariates for CL. After model validation, simulations showed that a loading dose (25 mg/kg) and a maintenance dose (15 mg/kg q12h if &lt…

0301 basic medicinePediatricsvancomycininfusion procedures0302 clinical medicinenewbornMedicinePharmacology (medical)Randomized Controlled Trials as Topiceducation.field_of_studyMaintenance doseAnti-Bacterial Agents3. Good healthInfectious Diseasesdrug maintenance doseResearch DesignArea Under CurveData Interpretation Statisticalcreatinine testsVancomycinMonte Carlo Methodmedicine.drugMicrobiology (medical)medicine.medical_specialty030106 microbiologyPopulationGestational AgeMicrobial Sensitivity TestsLoading doseRS03 medical and health sciencesPharmacokineticsdrug loading dose030225 pediatricsHumanssteady stateeducationPharmacologyDose-Response Relationship Drugbusiness.industryBody WeightInfant NewbornPostmenstrual AgeinfantNONMEMRegimen[SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologieregimen[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologiebusinessserum
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eIF5A facilitates translation termination globally and promotes the elongation of many non polyproline-specific tripeptide sequences

2017

Abstract eIF5A is an essential protein involved in protein synthesis, cell proliferation and animal development. High eIF5A expression is observed in many tumor types and has been linked to cancer metastasis. Recent studies have shown that eIF5A facilitates the translation elongation of stretches of consecutive prolines. Activated eIF5A binds to the empty E-site of stalled ribosomes, where it is thought to interact with the peptidyl-tRNA situated at the P-site. Here, we report a genome-wide analysis of ribosome stalling in Saccharomyces cerevisiae eIF5A depleted cells using 5Pseq. We confirm that, in the absence of eIF5A, ribosomes stall at proline stretches, and extend previous studies by …

0301 basic medicinePeptidyl transferaseProlineCytoskeleton organizationAmino Acid MotifsSaccharomyces cerevisiaePeptide Chain Elongation TranslationalSaccharomyces cerevisiaeBioinformaticsRibosomeGTP Phosphohydrolases03 medical and health sciences0302 clinical medicinePeptide Initiation FactorsGene Expression Regulation FungalGeneticsProtein biosynthesisHumansMolecular BiologyPolyproline helixBinding SitesbiologyRNA-Binding Proteinsbiology.organism_classificationStop codonCell biology030104 developmental biologybiology.proteinGenome FungalHydrophobic and Hydrophilic InteractionsRibosomesEIF5A030217 neurology & neurosurgeryProtein BindingNucleic Acids Research
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