Search results for "Cyst"

showing 10 items of 1960 documents

Postzygotic BRAF p.Lys601Asn Mutation in Phacomatosis Pigmentokeratotica with Woolly Hair Nevus and Focal Cortical Dysplasia

2016

International audience

0301 basic medicinesignaling pathwaymedicine.medical_specialtyhrasDermatologynoonanBiologyWoolly hair nevusBiochemistry030207 dermatology & venereal diseases03 medical and health sciences0302 clinical medicine[ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathologymedicineMolecular BiologyComputingMilieux_MISCELLANEOUSsyringocystadenoma papilliferumCell BiologyCortical dysplasiamedicine.diseaseDermatologyPhacomatosis pigmentokeratotica030104 developmental biologyMutation (genetic algorithm)mosaic rasopathies[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
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Antiprotozoal and cysteine proteases inhibitory activity of dipeptidyl enoates

2018

A family of dipeptidyl enoates has been prepared and tested against the parasitic cysteine proteases rhodesain, cruzain and falcipain-2 related to sleeping sickness, Chagas disease and malaria, respectively. They have also been tested against human cathepsins B and L1 for selectivity. Dipeptidyl enoates resulted to be irreversible inhibitors of these enzymes. Some of the members of the family are very potent inhibitors of parasitic cysteine proteases displaying k2nd (M−1s−1) values of seven orders of magnitude. In vivo antiprotozoal testing was also performed. Inhibitors exhibited IC50 values in the micromolar range against Plasmodium falciparum, Trypanosoma brucei, Trypanosoma cruzi and ev…

0301 basic medicinesleeping sicknessClinical BiochemistryPharmaceutical Science01 natural sciencesBiochemistryCathepsin BinhibitorsDrug Discoverychemistry.chemical_classificationbiologyChemistryDipeptidesHep G2 CellsMolecular Docking SimulationCysteine EndopeptidasesBiochemistryAntiprotozoalMolecular MedicineChagas diseaseProteasesCell Survivalmedicine.drug_classPlasmodium falciparumTrypanosoma brucei bruceimalariaAntiprotozoal AgentsCysteine Proteinase InhibitorsTrypanosoma bruceicysteine proteasesInhibitory Concentration 50Structure-Activity Relationship03 medical and health sciencesparasitic diseasesmedicineHumansTrypanosoma cruziMolecular Biologychagas diseaseBinding Sites010405 organic chemistryOrganic ChemistryPlasmodium falciparumbiology.organism_classificationmedicine.diseaseProtein Structure Tertiary0104 chemical sciences030104 developmental biologyEnzymeCysteineBioorganic & Medicinal Chemistry
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Biochemical Properties of Human D-Amino Acid Oxidase

2017

D-amino acid oxidase catalyzes the oxidative deamination of D-amino acids. In the brain, the NMDA receptor coagonist D-serine has been proposed as its physiological substrate. In order to shed light on the mechanisms regulating D-serine concentration at the cellular level, we biochemically characterized human DAAO (hDAAO) in greater depth. In addition to clarify the physical-chemical properties of the enzyme, we demonstrated that divalent ions and nucleotides do not affect flavoenzyme function. Moreover, the definition of hDAAO substrate specificity demonstrated that D-cysteine is the best substrate, which made it possible to propose it as a putative physiological substrate in selected tiss…

0301 basic medicinestructure-function relationshipssubstrate specificityD-amino acid oxidaseD-serineGenetics and Molecular Biology (miscellaneous)Flavin groupBiochemistry Genetics and Molecular Biology (miscellaneous)BiochemistryCofactor03 medical and health sciencesMolecular BiosciencesMolecular Biologylcsh:QH301-705.5D-cysteineOriginal Researchchemistry.chemical_classificationbiologyActive siteSubstrate (chemistry)Oxidative deaminationLigand (biochemistry)Amino acidD-amino acid oxidase; D-cysteine; D-serine; structure-function relationships; substrate specificity030104 developmental biologyBiochemistrychemistrylcsh:Biology (General)biology.proteinD-amino acid oxidase; D-cysteine; D-serine; Structure-function relationships; Substrate specificity; Molecular Biology; Biochemistry; Biochemistry Genetics and Molecular Biology (miscellaneous)D-amino acid oxidaseFrontiers in Molecular Biosciences
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HIV infection with viro-immunological dissociation in a patient with polycystic kidney disease: Candidate for transplantation?

2016

Highlights • Autosomal dominant polycystic kidney disease is the most common among inherited cystic kidney diseases. • Patients with HIV infection are at risk of developing acute kidney injury and chronic kidney disease. • We provide the first report of HIV infection in a patient with polycystic kidney disease. • Lymphopenia should not contraindicate kidney transplantation in patients with HIV infection.

030232 urology & nephrologyHuman immunodeficiency virus (HIV)Case ReportViro-immunological dissociationmedicine.disease_causeVirological response03 medical and health sciences0302 clinical medicinePolycystic kidney diseaseLymphopeniaPolycystic kidney diseaseMedicine030212 general & internal medicineStage (cooking)Kidney transplantationTransplantationurogenital systembusiness.industryHIV; Lymphopenia; Polycystic kidney disease; Transplantation; Viro-immunological dissociation; Infectious Diseasesvirus diseasesHIVmedicine.diseaseAntiretroviral therapyTransplantationInfectious DiseasesImmunologybusinessIDCases
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Évaluation du kit de PCR en temps réel MycoGENIE ® Pneumocystis jirovecii pour le diagnostic moléculaire de la pneumocystose

2017

Pneumocystis jirovecii (Pj) est un champignon pathogene opportuniste strictement humain. Il colonise transitoirement et sans symptome l’arbre respiratoire des patients immunocompetents, et peut etre responsable d’infections pulmonaires severes chez les patients immunodeprimes. Le diagnostic biologique de pneumocystose repose sur la mise en evidence du pathogene a l’examen direct d’un prelevement pulmonaire profond. Si l’examen direct manque souvent de sensibilite, de nombreuses techniques de PCR se sont developpees pour ameliorer la sensibilite de detection du champignon. Les techniques de PCR quantitatives (qPCR) permettent de quantifier la charge fongique dans le prelevement, et potentiel…

0303 health sciences03 medical and health sciences0302 clinical medicineInfectious Diseases[SDV.BIO]Life Sciences [q-bio]/Biotechnology030306 microbiologypneumocystose030231 tropical medicine[ SDV.BIO ] Life Sciences [q-bio]/Biotechnology3. Good health
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2019

Mammalian fetuin-A and fetuin-B are abundant serum proteins with pleiotropic functions. Fetuin-B is a highly selective and potent inhibitor of metallopeptidases (MPs) of the astacin family, which includes ovastacin in mammals. By inhibiting ovastacin, fetuin-B is essential for female fertility. The crystal structure of fetuin-B was determined unbound and in complex with archetypal astacin, and it was found that the inhibitor has tandem cystatin-type modules (CY1 and CY2). They are connected by an exposed linker with a rigid, disulfide-linked `CPDCP-trunk', and are followed by a C-terminal region (CTR) with little regular secondary structure. The CPDCP-trunk and a hairpin of CY2 form a bipar…

0303 health sciencesMetallopeptidaseChemistry030302 biochemistry & molecular biologyMutantGeneral ChemistryCondensed Matter PhysicsBiochemistryCell biology03 medical and health sciencesProtein structureHydrolaseGeneral Materials ScienceAstacinProtein secondary structureLinker030304 developmental biologyCysteineIUCrJ
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Design of new sensitive α,β-unsaturated carbonyl 1,8-naphtalimide fluorescent probes for thiol bioimaging

2017

International audience; We report herein an efficient synthesis of news naphtalimide-based fluorescent derivatives functionalized with an a,(3-unsaturated carbonyl group. Probes were synthesized from reaction of an amino-naphtalimide precursor with maleic anhydride. Photophysical study of fluorescent probes and cells labelling were performed, and showed that the reactive derivatives exhibit rich turn on fluorescence properties in presence of different biological thiol (Glutathione and Cysteine) making these systems a very promising way for thiol bioimaging.

1Biological thiolsThiol probes010402 general chemistryPhotochemistry01 natural sciencesTurn (biochemistry)Turn-on fluorescencechemistry.chemical_compoundMichael's additionLabelling[SDV.IDA]Life Sciences [q-bio]/Food engineeringMaterials ChemistryElectrical and Electronic EngineeringHomocysteineInstrumentationchemistry.chemical_classification010405 organic chemistry[ SDV.IDA ] Life Sciences [q-bio]/Food engineeringMetals and AlloysMaleic anhydrideGlutathioneKetonesCondensed Matter PhysicsBioimagingGlutathioneCarbonyl groupCombinatorial chemistryFluorescence4-addition0104 chemical sciences3. Good healthSurfaces Coatings and FilmsElectronic Optical and Magnetic MaterialschemistryThiolCysteineSensors and Actuators B: Chemical
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European ADPKD Forum multidisciplinary position statement on autosomal dominant polycystic kidney disease care

2018

Autosomal dominant polycystic kidney disease (ADPKD) is a chronic, progressive condition characterized by the development and growth of cysts in the kidneys and other organs and by additional systemic manifestations. Individuals with ADPKD should have access to lifelong, multidisciplinary, specialist and patient-centred care involving: (i) a holistic and comprehensive assessment of the manifestations, complications, prognosis and impact of the disease (in physical, psychological and social terms) on the patient and their family; (ii) access to treatment to relieve symptoms, manage complications, preserve kidney function, lower the risk of cardiovascular disease and maintain quality of life;…

2747 Transplantation030232 urology & nephrologyAutosomal dominant polycystic kidney diseaseINTRACRANIAL ANEURYSMS610 Medicine & healthBLOOD-PRESSUREDiseaseClinical practiceGUIDELINES10052 Institute of Physiology03 medical and health sciencesAll institutes and research themes of the Radboud University Medical Center0302 clinical medicineQuality of life (healthcare)NursingQUALITY-OF-LIFEPolycystic kidney diseaseMultidisciplinary approachHealth caremedicinePolycystic kidney diseaseCKDMultispecialist care030212 general & internal medicineDisease management (health)ADPKDOUTCOMESTransplantation2727 NephrologyScience & Technologypolycystic kidney diseasebusiness.industryRENAL REPLACEMENT THERAPYPATIENT PERSPECTIVESUrology & Nephrologymedicine.diseasePREVALENCEclinical practiceTransplantationRenal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11]CLINICAL-PRACTICENephrologymultispecialist care570 Life sciences; biologybusinessLife Sciences & Biomedicine
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International BEAT-PCD Consensus Statement for Infection Prevention and Control for Primary Ciliary Dyskinesia in collaboration with ERN-LUNG PCD Cor…

2021

Introduction In primary ciliary dyskinesia (PCD) impaired mucociliary clearance leads to recurrent airway infections and progressive lung destruction, and concern over chronic airway infection and patient-to-patient transmission is considerable. So far, there has been no defined consensus on how to control infection across centres caring for patients with PCD. Within the BEAT-PCD network, COST Action and ERS CRC together with the ERN-Lung PCD core a first initiative has now been taken towards creating such a consensus statement. Methods A multidisciplinary international PCD expert panel was set up to create a consensus statement for infection prevention and control (IP&C) for PCD, covering …

:Otros calificadores::Otros calificadores::/prevención & control [Otros calificadores]Infeccions respiratòries en els infantsPrimary Ciliary DyskinesiaStatement (logic)Respiratory SystemMULTICENTERRECOMMENDATIONS0302 clinical medicineOriginal Research ArticlesPandemicSTENOTROPHOMONAS-MALTOPHILIAInfection control:Pathological Conditions Signs and Symptoms::Pathologic Processes::Disease Attributes::Chronic Disease [DISEASES]030212 general & internal medicinePrimary ciliary dyskinesiaMalalties transmissibles - Transmissió:Environmental Health::Health::Environmental Illness::Communicable Diseases::Communicable Disease Control [PUBLIC HEALTH]FOUNDATIONbiologyTransmission (medicine)R:Congenital Hereditary and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Abnormalities Multiple::Ciliopathies::Congenital Hereditary and Neonatal Diseases and Abnormalities::Ciliary Motility Disorders [DISEASES]:afecciones patológicas signos y síntomas::procesos patológicos::atributos de la enfermedad::enfermedad crónica [ENFERMEDADES]:salud ambiental::salud::enfermedad ambiental::enfermedades transmisibles::control de enfermedades transmisibles [SALUD PÚBLICA]medicine.anatomical_structureMedicinePatient representativesLife Sciences & BiomedicinePulmonary and Respiratory Medicinemedicine.medical_specialty3610 Medicine & health:enfermedades y anomalías neonatales congénitas y hereditarias::anomalías congénitas::anomalías múltiples::ciliopatías::enfermedades y anomalías neonatales congénitas y hereditarias::trastornos de la motilidad ciliar [ENFERMEDADES]:Other subheadings::Other subheadings::/prevention & control [Other subheadings]03 medical and health sciencesotorhinolaryngologic diseasesmedicineIntensive care medicineScience & TechnologyCYSTIC-FIBROSISLungbusiness.industryPSEUDOMONAS-AERUGINOSAMalalties cròniques - PrevencióCAREEFFICACYmedicine.diseasebiology.organism_classificationrespiratory tract diseases030228 respiratory systemNontuberculous mycobacteria610 Medizin und GesundheitbusinessERJ Open Research
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ANTITHROMBOTIC PROPHYLAXIS IN LAPAROSCOPIC CHOLECYSTECTOMY

2013

Pulmonary thromboembolism is a common cause of in-hospital death. In moderate or high risk patients undergoing laparotomy, acute and long-term mortality can be effec-tively reduced with an appropriate prophylactic drug treatment, while in low-risk patients undergoing laparoscopy, the correlation between the thromboembolism risk and the pro-cedure itself, as well as potential benefits of thromboprophylaxis are, at present, unclear. Here we report the case of E., a 49-year-old woman with patent foramen ovale, consid-ered to be at low risk of thromboembolism, who experienced a sudden cardiopulmonary arrest following a laparoscopic cholecystectomy and died four days later. . The purpose of this…

ANTITHROMBOTIC PROPHYLAXISLAPAROSCOPIC CHOLECYSTECTOMY FORENSIC PATOLOGYSettore MED/43 - Medicina Legale
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