Search results for "Genes"

showing 10 items of 13944 documents

Detection of RET rearrangements in papillary thyroid carcinoma using RT-PCR and FISH techniques - A molecular and clinical analysis.

2019

Abstract Introduction Oncogenic BRAF and RAS mutations as well as multiple known (and yet unknown) RET fusion oncogenes comprise the majority of causative molecular alterations in papillary thyroid carcinoma (PTC). Apparently “mutation-negative” PTCs encompass a heterogenous group impeding analysis of prognostic significance of underlying genetics. Material and methods BRAF wild type PTC tissue of 56 patients was analyzed using two established methods: hybrid-specific RT-PCR for the predominant rearrangement RET/PTC1 and fluorescent in situ hybridization (FISH). Clinical features of the cases with and without RET rearrangement were compared (patient age, gender, tumor size, focality, lymph …

0301 basic medicineAdultMaleProto-Oncogene Proteins B-rafmedicine.medical_specialtyendocrine system diseasesIn situ hybridizationThyroid carcinomaIodine Radioisotopes03 medical and health sciences0302 clinical medicinemedicineHumansAvidityOncogene FusionThyroid NeoplasmsLymph nodeIn Situ Hybridization FluorescenceAgedRET/PTC RearrangementGene RearrangementClinical pathologybusiness.industryReverse Transcriptase Polymerase Chain ReactionProto-Oncogene Proteins c-retGeneral MedicineMiddle AgedTumor BurdenReverse transcription polymerase chain reaction030104 developmental biologymedicine.anatomical_structureReal-time polymerase chain reactionOncologyThyroid Cancer Papillary030220 oncology & carcinogenesisCancer researchSurgeryFemaleLymph NodesbusinessEuropean journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology
researchProduct

Sperm DNA fragmentation: An early and reliable marker of air pollution.

2017

Environmental factors could have a key role in the continuous and remarkable decline of sperm quality observed in the last decades. This study compared the seminal parameters and sperm DFI in men living in areas with different levels of air pollution. Results demonstrate that both steel plants workers and patients living in a high polluted area show a mean percentage of sperm DNA fragmentation above 30%, highlighting a clear sperm damage. In this work, two different techniques were used to measure sperm DNA damage in patients’ groups, finding in both cases a high sperm DFI in patients living in polluted areas. We candidate sperm DNA fragmentation as a valuable early marker of the presence…

0301 basic medicineAdultMaleendocrine systemHealth Toxicology and MutagenesisAir pollutionDNA FragmentationBiologymedicine.disease_causeToxicologyAndrology03 medical and health sciences0302 clinical medicineAir PollutionmedicineHumansIn patientSettore BIO/06 - Anatomia Comparata E Citologiareproductive and urinary physiologySperm motilityTUNELPharmacologyAir Pollutants030219 obstetrics & reproductive medicineurogenital systemSperm dnaApoptosiGeneral MedicineEnvironmental exposureEnvironmental ExposureSpermSpermatozoaSCD030104 developmental biologyEnvironmental healthItalySteelSperm MotilityDNA fragmentationParticulate MatterReproductive capacityEnvironmental toxicology and pharmacology
researchProduct

Different Innate and Adaptive Immune Responses to SARS-CoV-2 Infection of Asymptomatic, Mild, and Severe Cases

2020

Abstract Background SARS-CoV-2 is a novel coronavirus, not encountered before by humans. The wide spectrum of clinical expression of SARS-CoV-2 illness suggests that individual immune responses to SARS-CoV-2 play a crucial role in determining the clinical course after first infection. Immunological studies have focussed on patients with moderate to severe disease, demonstrating excessive inflammation in tissues and organ damage. We have studied the individual response to SARS-CoV-2 of asympromatic, mild and severe COVID-19 patients in order to investigate the role of innnate and adaptive immunity in determining the clinical course after first infection. Methods To understand the basis of th…

0301 basic medicineAdultMalelcsh:Immunologic diseases. AllergyImmunologyInflammationDiseaseAdaptive Immunitymedicine.disease_causeAntibodies ViralAsymptomaticSeverity of Illness IndexSerology03 medical and health sciences0302 clinical medicineImmune systeminnate and adaptiveimmune responsemedicineHumansImmunology and AllergyantibodiesNK cellOriginal ResearchCoronavirusB cellsbiologybusiness.industrySARS-CoV-2MonocyteSettore BIO/12COVID-19antibodies; B cells; COVID-19; innate and adaptiveimmune response; monocytes; NK cell; SARS-CoV-2Acquired immune systemImmunity InnateImmunoglobulin AKiller Cells Natural030104 developmental biologymedicine.anatomical_structureImmunoglobulin MSettore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA030220 oncology & carcinogenesisImmunologybiology.proteinFemalemedicine.symptomAntibodybusinesslcsh:RC581-607monocytes
researchProduct

Epidemiology and Microbiology of Skin and Soft Tissue Infections: Preliminary Results of a National Registry

2018

Skin and soft tissue infections (SSTIs) represent a wide range of clinical conditions characterized by a considerable variety of clinical presentations and severity. Their aetiology can also vary, with numerous possible causative pathogens. While other authors previously published analyses on several types of SSTI and on restricted types of patients, we conducted a large nationwide surveillance programme on behalf of the Italian Society of Infectious and Tropical Diseases to assess the clinical and microbiological characteristics of the whole SSTI spectrum, from mild to severe life-threatening infections, in both inpatients and outpatients. Twenty-five Infectious Diseases (ID) Centres throu…

0301 basic medicineAdultMalemedicine.medical_specialtyAdolescentEpidemiology030106 microbiologySocio-culturaleregistryEpidemiology; microbiology; registry; skin and soft tissue infections; Oncology; Pharmacology; Pharmacology (medical); Infectious Diseases03 medical and health sciencesEpidemiology microbiology skin and soft tissue infections registryYoung Adult0302 clinical medicineskin and soft tissue infectionEpidemiologymedicineHumansPharmacology (medical)RegistriesSkin Diseases InfectiousAgedAged 80 and overPharmacologybusiness.industrySoft Tissue Infectionsmicrobiologyfood and beveragesSoft tissueMiddle AgedDermatologyskin and soft tissue infectionsInfectious DiseasesItalyOncology030220 oncology & carcinogenesisEtiologyFemaleNational registrybusiness
researchProduct

Effect of gene-gene and gene-environment interactions associated with antituberculosis drug-induced hepatotoxicity.

2017

This study evaluated the association between environmental factors and genetic variations in enzymes that metabolize antituberculosis (anti-TB) drugs [arylamine N-acetyltransferase 2, cytochrome P450 2E1 (CYP2E1), glutathione S-transferase theta 1 (GSTT1), and glutathione S-transferase mu 1] with antituberculosis drug-induced hepatotoxicity (ATDH). We also investigated the potential gene-gene and gene-environment interactions as well as their association with ATDH development in a population of hospitalized TB patients from Buenos Aires.We investigated 364 TB patients who received anti-TB drugs. Physicians collected demographic and clinical data to identify environmental risk factors for AT…

0301 basic medicineAdultMalemedicine.medical_specialtyAntitubercular AgentsBiologyPharmacologyPolymorphism Single Nucleotide03 medical and health scienceschemistry.chemical_compoundYoung Adult0302 clinical medicineMolecular geneticsGenotypeGenetic variationGeneticsmedicineHumansGeneral Pharmacology Toxicology and PharmaceuticsAlleleMolecular BiologyGeneGenetics (clinical)chemistry.chemical_classificationEpistasis GeneticGlutathioneCYP2E1gene antitubercolosis drug drug cytochrome geneticsSettore BIO/18 - Genetica030104 developmental biologyEnzymechemistryLiver030220 oncology & carcinogenesisMolecular MedicineFemalePharmacogenetics and genomics
researchProduct

Obesity impairs leukocyte‐endothelium cell interactions and oxidative stress in humans

2018

Background:To evaluate the relationship between leukocyte‐endothelial cellinteractions and oxidative stress parameters in non‐diabetic patients with differentgrades of obesity.Material and methods:For this cross‐sectional study, 225 subjects wererecruited from January 1, 2014 to December 31, 2016 and divided into groupsaccording to BMI (40 kg/m²). We determined clin-ical parameters, systemic inflammatory markers, soluble cellular adhesion mole-cules, leukocyte‐endothelium cell interactions—rolling flux, velocity and adhesion—, oxidative stress parameters—total ROS, total superoxide, glutathione—andmitochondrial membrane potential in leukocytes.Results:We verified that HOMA‐IR and hsCRP incr…

0301 basic medicineAdultMalemedicine.medical_specialtyEndotheliumAdolescentClinical BiochemistryCell Communication030204 cardiovascular system & hematologyMitochondrionmedicine.disease_causeBiochemistryProinflammatory cytokineBody Mass Index03 medical and health sciencesYoung Adult0302 clinical medicineInternal medicinemedicineCell AdhesionLeukocytesHumansObesityEndothelial dysfunctionCell adhesionAgedchemistry.chemical_classificationMembrane Potential MitochondrialReactive oxygen speciesChemistryCell adhesion moleculeEndothelial CellsGeneral MedicineMiddle AgedAtherogenesismedicine.diseaseIntercellular Adhesion Molecule-1Oxidative Stress030104 developmental biologyEndocrinologymedicine.anatomical_structureCross-Sectional StudiesCytokinesReactive oxygen specieFemaleMitochondrial membrane potentialReactive Oxygen SpeciesOxidative stress
researchProduct

Cardiac troponin elevation in patients with influenza virus infections

2021

The association between acute infections and cardiac injury, including myocarditis and acute myocardial infarction, is now well established. We have performed a systematic literature review for analyzing the results of epidemiological studies that measured cardiac troponins (cTn) in patients with Influenza virus infections. Overall, 14 articles were finally identified and analyzed. Taken together, the results of the scientific literature suggest that cTn elevation is a relatively rare phenomenon in patients with Influenza virus infection, with frequency generally comprised between 0 and 33%, more likely in elderly patients with significant comorbidities. In patients with modest cTn elevatio…

0301 basic medicineAdultMalemedicine.medical_specialtyMedicine (General)MyocarditisCardiac troponinAdolescentQH301-705.5Myocardial InfarctionDiseaseInfluenza A Virus H7N9 SubtypeVirus03 medical and health sciencesYoung Adult0302 clinical medicineInfluenza A Virus H1N1 SubtypeR5-920Internal medicineEpidemiologyInfluenza HumanMedicineHumansMyocardial infarctionBiology (General)health care economics and organizationsAgedAged 80 and overbusiness.industryCardiac injury Cardiac troponin Influenza Myocardial injuryGeneral MedicineMiddle Agedmedicine.diseaseShort ReviewTroponinInfluenzaCardiac injury030104 developmental biology030220 oncology & carcinogenesisConcomitantMyocardial injuryBiomarker (medicine)Cardiac troponinFemalebusinessBiomarkers
researchProduct

Clinical implications of serum neurofilament in newly diagnosed MS patients: a longitudinal multicentre cohort study

2020

Abstract Background We aim to evaluate serum neurofilament light chain (sNfL), indicating neuroaxonal damage, as a biomarker at diagnosis in a large cohort of early multiple sclerosis (MS) patients. Methods In a multicentre prospective longitudinal observational cohort, patients with newly diagnosed relapsing-remitting MS (RRMS) or clinically isolated syndrome (CIS) were recruited between August 2010 and November 2015 in 22 centers. Clinical parameters, MRI, and sNfL levels (measured by single molecule array) were assessed at baseline and up to four-year follow-up. Findings Of 814 patients, 54.7% (445) were diagnosed with RRMS and 45.3% (369) with CIS when applying 2010 McDonald criteria (R…

0301 basic medicineAdultMalemedicine.medical_specialtyResearch paperClinical Decision-MakingIntermediate Filamentslcsh:Medicine610 Medicine & healthNewly diagnosedGeneral Biochemistry Genetics and Molecular BiologyMultiple sclerosis03 medical and health sciences0302 clinical medicineAtrophyMultiple Sclerosis Relapsing-RemittingNeurofilament ProteinsInternal medicineGermanymedicineHumansLongitudinal StudiesProspective Studiesddc:610610 Medicine & healthNeurofilament light chainlcsh:R5-920Clinically isolated syndromebusiness.industryMultiple sclerosislcsh:RMcDonald criteriaGeneral MedicineBiomarkermedicine.diseasesNfL030104 developmental biology030220 oncology & carcinogenesisCohortDisease ProgressionCommentaryBiomarker (medicine)Femalelcsh:Medicine (General)businessPredictionFunction and Dysfunction of the Nervous SystemBiomarkersCohort study
researchProduct

Expression of salivary biomarkers in patients with oral mucositis: evaluation by SELDI-TOF/MS.

2016

Objective: This study aims to evaluate changes in proteomic salivary profile of patients with oral mucositis after adjuvant cancer treatments. Materials and Methods: Samples were collected from patients after adjuvant cancer therapies, and were analyzed by means of SELDI/TOF. Patients were separated in two groups: patients affected by mucositis (MUCOSITIS) and patient without mucositis (NO MUCOSITIS). All patients were divided in function of the anticancer treatment: patients who had radiotherapy (MUCOSITIS RADIO), had not radiotherapy (MUCOSITIS NO RADIO), had chemotherapy (MUCOSITIS CHEMO), and those who had not chemotherapy (MUCOSITIS NO CHEMO). Statistical evaluation PCA (Principal Comp…

0301 basic medicineAdultMalemedicine.medical_specialtySalivaPathologymedicine.medical_treatmentGastroenterologySELDI-TOF/MS; biomarker discovery; oral mucositis; saliva; Adult; Aged; Aged 80 and over; Biomarkers; Chemotherapy Adjuvant; Female; Humans; Male; Middle Aged; Neoplasms; Radiation Injuries; Radiotherapy Adjuvant; Saliva; Stomatitis; Spectrometry Mass Matrix-Assisted Laser Desorption-Ionization03 medical and health sciences0302 clinical medicineInternal medicineNeoplasmsbiomarker discoverymedicineMucositisHumansRadiation InjurieRadiation InjuriesSalivaGeneral DentistryStomatitisAgedAged 80 and overChemotherapyStomatitisbusiness.industryCancerSELDI-TOF/MSBiomarkerMiddle Agedmedicine.diseaseStomatitiRadiation therapy030104 developmental biologyOtorhinolaryngologyChemotherapy Adjuvant030220 oncology & carcinogenesisSpectrometry Mass Matrix-Assisted Laser Desorption-IonizationBiomarker (medicine)NeoplasmFemaleRadiotherapy AdjuvantbusinessAdjuvantoral mucositiBiomarkersHumanOral diseases
researchProduct

Urinary levels of sirtuin-1 associated with disease activity in lupus nephritis.

2017

Identifying new markers of disease flares in lupus nephritis (LN) that facilitate patient stratification and prognosis is important. Therefore, the aim of the present study was to analyze whether urinary SIRT1 expression was altered in LN and whether SIRT1 values in urine could be valuable biomarker of disease activity. In a cohort study, urinary pellets from 40 patients diagnosed with systemic lupus erythematosus (SLE) were analyzed. Clinical measures of lupus activity were assessed. The expression of SIRT1 was quantified by quantitative PCR (qRT-PCR) and immunoblot, then compared between patients with active lupus nephritis, in remission and healthy controls. Association with lupus activi…

0301 basic medicineAdultMalemedicine.medical_specialtyUrinary systemLupus nephritisGene ExpressionDiseaseUrineKidneyGastroenterologySeverity of Illness IndexPathogenesisCohort Studies03 medical and health sciencesSirtuin 1Internal medicinemedicineHumansLupus Erythematosus Systemicskin and connective tissue diseasesAgedSystemic lupus erythematosusbusiness.industryGeneral MedicineMiddle Agedmedicine.diseasePrognosisLupus Nephritis030104 developmental biologyReal-time polymerase chain reactionBiomarker (medicine)FemalebusinessBiomarkersClinical science (London, England : 1979)
researchProduct