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showing 10 items of 11015 documents

Dry selection and wet evaluation for the rational discovery of new anthelmintics

2017

Helminths infections remain a major problem in medical and public health. In this report, atom-based 2D bilinear indices, a TOMOCOMD-CARDD (QuBiLs-MAS module) molecular descriptor family and linear discriminant analysis (LDA) were used to find models that differentiate among anthelmintic and non-anthelmintic compounds. Two classification models obtained by using non-stochastic and stochastic 2D bilinear indices, classified correctly 86.64% and 84.66%, respectively, in the training set. Equation 1(2) correctly classified 141(135) out of 165 [85.45%(81.82%)] compounds in external validation set. Another LDA models were performed in order to get the most likely mechanism of action of anthelmin…

0301 basic medicineBiophysicsNon-stochastic and stochastic atom-based bilinear indicesBilinear interpolationLDA-based QSAR modelQuBiLs-MAS module01 natural sciencesSet (abstract data type)03 medical and health sciencesMolecular descriptorStatisticsPhysical and Theoretical ChemistryMolecular BiologySelection (genetic algorithm)MathematicsFree and open source softwareTraining setTOMOCOMD-CARDD softwareExternal validationAnthelmintic activityAtom (order theory)Computational creeningCondensed Matter PhysicsLinear discriminant analysis0104 chemical sciencesIndazole010404 medicinal & biomolecular chemistry030104 developmental biologyLead generationMolecular Physics
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Analysis of platelet function and dysfunction.

2014

SummaryAlthough platelets act as central players of haemostasis only their cross-talk with other blood cells, plasma factors and the vascular compartment enables the formation of a stable thrombus. Multiple activation processes and complex signalling networks are responsible for appropriate platelet function. Thus, a variety of platelet function tests are available for platelet research and diagnosis of platelet dysfunction. However, universal platelet function tests that are sensitive to all platelet function defects do not exist and therefore diagnostic algorithms for suspected platelet function disorders are still recommended in clinical practice.Based on the current knowledge of human p…

0301 basic medicineBlood PlateletsPlatelet Function TestsPlatelet dysfunctionPoint-of-care testingPoint-of-Care SystemsVascular compartment030204 cardiovascular system & hematologySensitivity and Specificity03 medical and health sciences0302 clinical medicineThrombinmedicineHumansPlateletThrombusbusiness.industryReproducibility of ResultsHematologymedicine.disease030104 developmental biologyPlatelet function testImmunologyBlood Platelet DisordersbusinessFunction (biology)medicine.drugHamostaseologie
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Standardization of Light Transmission Aggregometry for Diagnosis of Platelet Disorders: An Inter-Laboratory External Quality Assessment.

2019

AbstractSeveral in vitro platelet function tests are available for the diagnosis of inherited platelet function disorders. Currently, the light transmission aggregometry (LTA) is recommended as one of the first-step tests. LTA is available in most specialized hemostasis laboratories. Although the LTA is accepted as a ‘gold standard’ assay for the evaluation of platelet function, its standardization in the clinical practice is still challenging. The GTH-based THROMKID-Plus Study Group has performed an inter-laboratory trial in Germany and Austria. Five different agonists were selected according to the Scientific and Standardization Committee/International Society on Thrombosis and Haemostasi…

0301 basic medicineBlood Plateletsmedicine.medical_specialtyLight transmissionStandardizationPlatelet AggregationPlatelet Function TestsQuality Assurance Health CarePlatelet disorder030204 cardiovascular system & hematology03 medical and health sciences0302 clinical medicineReference ValuesInternal medicineGermanyExternal quality assessmentmedicineHumansPlateletInter-laboratoryHemostasisbusiness.industryPlatelet-Rich PlasmaHematologyGold standard (test)Reference StandardsHealthy Volunteers030104 developmental biologyHemostasisAustriaBlood Platelet DisordersbusinessThrombosis and haemostasis
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A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment

2017

Megalencephaly and macrocephaly present with a head circumference measurement 2 standard deviations above the age-related mean. However, even if pathologic events resulting in both megalencephaly and macrocephaly may coexist, a distinction between these two entities is appropriate, as they represent clinical expression of different disorders with a different approach in clinical work-up, overall prognosis, and treatment. Megalencephaly defines an increased growth of cerebral structures related to dysfunctional anomalies during the various steps of brain development in the neuronal proliferation and/or migration phases or as a consequence of postnatal abnormal events. The disorders associate…

0301 basic medicineBrain development030105 genetics & hereditymacrocephalybrain dysfunction large head macrocephaly megalencephaly metabolic disorders03 medical and health sciences0302 clinical medicinemedicinemegalencephalymetabolic disordersHumansMegalencephaly10. No inequalitybrain dysfunctionbusiness.industryMedicine (all)Macrocephalybrain dysfunction; large head; macrocephaly; megalencephaly; metabolic disorders; Humans; Observational Studies as Topic; Megalencephaly; Medicine (all)General Medicinemedicine.diseaseHead circumferenceObservational Studies as Topiclarge headMeasurement 2medicine.symptombusinessNeuroscience030217 neurology & neurosurgery
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2016

Bacillus thuringiensis Cry3Aa and Cry3Ca proteins have been reported to be toxic against the African sweetpotato pest Cylas puncticollis. In the present work, the binding sites of these proteins in C. puncticollis brush border vesicles suggest the occurrence of different binding sites, but only one of them is shared. Our results suggest that pest resistance mediated by alteration of the shared Cry-receptor binding site might not render both Cry proteins ineffective.

0301 basic medicineBrentidaeGeneticsendocrine systemPesticide resistancebiologyBrush borderbusiness.industryWeevilfungi030106 microbiologyPest controlToxicologybiology.organism_classification03 medical and health sciencesBacillus thuringiensisBotanyPEST analysisBinding sitebusinessToxicon
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Efficacy and Resistance Management Potential of a Modified Vip3C Protein for Control of Spodoptera frugiperda in Maize

2018

AbstractA modified Vip3C protein has been developed that has a spectrum of activity that has the potential to be commercially useful for pest control, and shows good efficacy against Spodoptera frugiperda in insect bioassays and field trials. For the first time Vip3A and Vip3C proteins have been compared to Cry1 and Cry2 proteins in a complete set of experiments from insect bioassays to competition binding assays to field trials, and the results of these complementary experiments are in agreement with each other. Binding assays with radiolabelled toxins and brush border membrane vesicles from S. frugiperda and Helicoverpa armigera show that the modified Vip3C protein shares binding sites wi…

0301 basic medicineBrush bordermedia_common.quotation_subject030106 microbiologyBacillus thuringiensislcsh:MedicineInsectBiologyHelicoverpa armigeraSpodopteraSpodopteraZea maysArticleInsecticide Resistance03 medical and health sciencesBacillus thuringiensisBioassayAnimalsBinding sitePest Control Biologicallcsh:Sciencemedia_commonMultidisciplinaryBinding Sitesbusiness.industryfungilcsh:RPest controlbiology.organism_classificationPlants Genetically ModifiedEndotoxinsBiochemistryLarvalcsh:QbusinessScientific Reports
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Validation of ADAM10 metalloprotease as aBacillus thuringiensisCry3Aa toxin functional receptor in Colorado potato beetle (Leptinotarsa decemlineata)

2016

Bacillus thuringiensis parasporal crystal proteins (Cry proteins) are insecticidal pore-forming toxins that bind to specific receptor molecules on the brush border membrane of susceptible insect midgut cells to exert their toxic action. In the Colorado potato beetle (CPB), a coleopteran pest, we previously proposed that interaction of Cry3Aa toxin with a CPB ADAM10 metalloprotease is an essential part of the mode of action of this toxin. Here, we annotated the gene sequence encoding an ADAM10 metalloprotease protein (CPB-ADAM10) in the CPB genome sequencing project, and using RNA interference gene silencing we demonstrated that CPB-ADAM10 is a Cry3Aa toxin functional receptor in CPB. Cry3Aa…

0301 basic medicineBrush bordermedicine.diagnostic_testbiologyToxinProteolysis030106 microbiologyColorado potato beetleMidgutmedicine.disease_causebiology.organism_classificationMicrobiology03 medical and health sciencessurgical procedures operative030104 developmental biologyBiochemistryRNA interferenceInsect ScienceBacillus thuringiensisGeneticsmedicineReceptorMolecular Biologycirculatory and respiratory physiologyInsect Molecular Biology
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Prediabetes is associated with the modulation of antigen-specific Th1/Tc1 and Th17/Tc17 responses in latent Mycobacterium tuberculosis infection.

2017

Type 2 diabetes mellitus (DM) is associated with the down modulation of Th1, Th2 and Th17 responses in latent Mycobacterium tuberculosis infection but the role of prediabetes (PDM) in this setting is not well understood. To examine the role of CD4+ and CD8+ T cell cytokines in latent tuberculosis (LTB) with coincident PDM, we studied the baseline, mycobacterial, control antigen and mitogen-stimulated T cell cytokine responses in LTB individuals with (LTB-PDM; n = 20) or without (LTB-NDM; n = 20) concomitant prediabetes. LTB-PDM is characterized by diminished frequencies of mono-and dual-functional CD4+ Th1 and Th17 cells and mono-functional Th2 cells at baseline and/or following mycobacteri…

0301 basic medicineCD4-Positive T-LymphocytesMaleBacterial DiseasesPhysiologymedicine.medical_treatmentlcsh:MedicineCD8-Positive T-LymphocytesWhite Blood Cells0302 clinical medicineSpectrum Analysis TechniquesEndocrinologyAnimal CellsImmune PhysiologyMedicine and Health SciencesMedicinePrediabeteslcsh:ScienceInnate Immune SystemMultidisciplinarybiologyLatent tuberculosisT CellsMiddle AgedFlow Cytometry3. Good healthActinobacteriaCytokinemedicine.anatomical_structureInfectious DiseasesSpectrophotometryCytokinesFemaleCytophotometryCellular TypesResearch ArticleAdultEndocrine DisordersT cellImmune CellsImmunologyCytotoxic T cellsResearch and Analysis MethodsMycobacterium tuberculosisPrediabetic State03 medical and health sciencesImmune systemTh2 CellsAntigenLatent TuberculosisDiabetes MellitusHumansTuberculosisT Helper CellsAgedAntigens BacterialBlood CellsBacteriabusiness.industrylcsh:ROrganismsBiology and Life SciencesMycobacterium tuberculosisCell BiologyTh1 CellsMolecular Developmentmedicine.diseasebiology.organism_classificationTropical Diseases030104 developmental biologyCase-Control StudiesImmune SystemMetabolic DisordersImmunologyTh17 Cellslcsh:QbusinessCD8030215 immunologyDevelopmental BiologyPloS one
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Case report : partial uniparental disomy unmasks a novel recessive mutation in the LYST gene in a patient with a severe phenotype of Chediak-Higashi …

2021

Síndrome de Chédiak-Higashi; LYST; Disomia uniparental Síndrome de Chédiak-Higashi; LYST; Disomía uniparental Chédiak-Higashi syndrome; LYST; Uniparental disomy Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive (AR) immune disorder that has usually been associated to missense, nonsense or indels mutations in the LYST gene. In this study, we describe for the first time the case of a CHS patient carrying a homozygous mutation in the LYST gene inherited as a result of a partial uniparental isodisomy (UPiD) of maternal origin. Sanger sequencing of the LYST cDNA and single nucleotide polymorphism (SNP)-arrays were performed to identify the causative mutation and to explain the molecul…

0301 basic medicineCHSLYSTCase ReportHemophagocytic lymphohistiocytosis030105 genetics & hereditymedicine.disease_causeLoss of heterozygosityExonCh&#233diak-Higashi syndromeImmunology and AllergyMissense mutation:Genetic Phenomena::Genetic Phenomena::Inheritance Patterns::Genes Recessive [PHENOMENA AND PROCESSES]Genetics:fenómenos genéticos::fenómenos genéticos::patrones de herencia::genes recesivos [FENÓMENOS Y PROCESOS]MutationPrimary immunodeficiencySistema inmune - Enfermedades - Diagnóstico.Loss of heterozygosityChédiak-Higashi Síndrome de - Diagnóstico.:enfermedades del sistema inmune::síndromes de inmunodeficiencia::disfunción bactericida del fagocito::síndrome de Chediak-Higashi [ENFERMEDADES]Uniparental disomyImmune system - Diseases - Diagnosis.Chromosome abnormalities.loss of heterozygositySNP array:fenómenos genéticos::variación genética::mutación::aberraciones cromosómicas::disomía uniparental [FENÓMENOS Y PROCESOS]lcsh:Immunologic diseases. AllergyAnomalías y malformaciones cromosómicas.disomia uniparentaluniparental disomy:Immune System Diseases::Immunologic Deficiency Syndromes::Phagocyte Bactericidal Dysfunction::Chediak-Higashi Syndrome [DISEASES]ImmunologyChédiak-Higashi syndromeSingle-nucleotide polymorphismBiologyprimary immunodeficiency03 medical and health sciencesMalalties immunològiquesmedicineGenetic disorders - Diagnosis.Béguez-Chédiak-Higashi syndrome - Diagnosis.Uniparental disomymedicine.diseaseSNP-array030104 developmental biologyAnomalies cromosòmiquesUniparental Isodisomyhemophagocytic lymphohistiocytosisEnfermedades genéticas - Diagnóstico.lcsh:RC581-607:Genetic Phenomena::Genetic Variation::Mutation::Chromosome Aberrations::Uniparental Disomy [PHENOMENA AND PROCESSES]
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Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing.

2016

Autosomal dominant genetic diseases can occur de novo and in the form of somatic mosaicism, which can give rise to a less severe phenotype, and make diagnosis more difficult given the sensitivity limits of the methods used. We report the case of female child with a history of surgery for syndactyly of the hands and feet, who was admitted at 6 years of age to a pediatric intensive care unit following cardiac arrest. The electrocardiogram (ECG) showed a long QT interval that on occasions reached 500 ms. Despite the absence of facial dysmorphism and the presence of normal psychomotor development, a diagnosis of Timothy syndrome was made given the association of syndactyly and the ECG features.…

0301 basic medicineCalcium Channels L-TypeLong QT syndromeDNA Mutational AnalysisTimothy syndrome030204 cardiovascular system & hematologyBioinformaticsDNA sequencing03 medical and health sciencessymbols.namesakeElectrocardiography0302 clinical medicineGeneticsmedicineMissense mutationHumansSyndactylyAutistic DisorderChildCodonGenetics (clinical)AllelesGenetic Association StudiesSanger sequencingbiologyMosaicismKCNE2High-Throughput Nucleotide Sequencingmedicine.diseaseLong QT Syndrome030104 developmental biologyPhenotypeAmino Acid SubstitutionMutation (genetic algorithm)Mutationsymbolsbiology.proteinFemaleSyndactylyAmerican journal of medical genetics. Part A
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