Search results for "biopsy"

showing 10 items of 1352 documents

High numbers of circulating CD57+ NK cells associate with resistance to HER2-specific therapeutic antibodies in HER2+ primary breast cancer.

2019

Abstract Natural killer (NK) cells can orchestrate effective antitumor immunity. The presence of tumor-infiltrating NK cells in diagnostic biopsies predicts pathologic complete response (pCR) to HER2-specific therapeutic antibodies in patients with primary breast cancer. Here, we analyzed whether diversity in circulating NK cells might influence tumor infiltration and HER2-specific therapeutic antibody efficacy. We found that numbers of circulating CD57+ NK cells inversely correlated with pCR to HER2-specific antibody treatment in patients with primary breast cancer independently of age, traditional clinicopathologic factors, and CD16A 158F/V genotype. This association was uncoupled from th…

0301 basic medicineCancer Researchmedicine.diagnostic_testbiologybusiness.industryImmunologymedicine.diseaseCXCR303 medical and health sciences030104 developmental biology0302 clinical medicineImmunophenotypingBreast cancer030220 oncology & carcinogenesisBiopsymedicineCancer researchbiology.proteinNeoplasmAntibodyskin and connective tissue diseasesReceptorbusinessHoming (hematopoietic)
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Circulating Tumor DNA Detection by Digital-Droplet PCR in Pancreatic Ductal Adenocarcinoma: A Systematic Review

2021

Simple Summary Pancreatic cancer is a digestive tumor that is most difficult to treat and carries one of the worst prognoses. The anatomical location of the pancreas makes it very difficult to obtain enough tumor material to establish a molecular diagnosis, so knowing the biology of this tumor and implementing new targeted-therapies is still a pending issue. The use of liquid biopsy, a blood sample test to detect circulating-tumor DNA fragments (ctDNA), is key to overcoming this difficulty and improving the evolution of this tumor. Liquid biopsies are equally representative of the tissue from which they come and allow relevant molecular and diagnostic information to be obtained in a faster …

0301 basic medicineCancer Researchpancreatic cancerpancreatic ductal adenocarcinoma (PDAC)lcsh:RC254-28203 medical and health sciences0302 clinical medicineCirculating tumor cellPancreatic cancerBiopsydigital-droplet PCR (ddPCR)MedicineLiquid biopsymedicine.diagnostic_testbusiness.industryctDNAmedicine.diseaselcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensMinimal residual disease030104 developmental biologymedicine.anatomical_structureOncology030220 oncology & carcinogenesisCancer cellCancer researchBiomarker (medicine)Systematic ReviewbusinessPancreasCancers
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A rare association of chronic lymphocytic leukemia with c-ANCA-positive Wegener’s granulomatosis: a case report

2016

Background Wegener’s granulomatosis is a systemic vasculitis of the small- and medium-sized vessels, produced by the action of ANCA, which involves the respiratory tract, kidneys, and eyes, with a potential for lethal evolution in the first year after diagnosis. Its association with chronic lymphocytic leukemia is rarely described in the literature, and it may be difficult to diagnose and to treat this association. Case presentation We present the case of a 73-year-old Caucasian patient, a rare case in which Wegener’s granulomatosis is associated in a patient with chronic lymphocytic leukemia, who is admitted in the Infectious Disease Department for fever, diplopia, headache, purulent and h…

0301 basic medicineChemosisMalePathologymedicine.medical_specialtyChronic lymphocytic leukemiaMucous membrane of noseCase ReportAntibodies Antineutrophil Cytoplasmic03 medical and health sciences0302 clinical medicineBiopsymedicinec-ANCA positiveHumansAgedmedicine.diagnostic_testbusiness.industryGranulomatosis with PolyangiitisWegener’s granulomatosismedicine.diseasePrognosisLeukemia Lymphocytic Chronic B-Cell030104 developmental biologyOncology030220 oncology & carcinogenesisChronic lymphocytic leukemiaSurgerymedicine.symptomGranulomatosis with polyangiitisVasculitisbusinessScleritisSystemic vasculitisWorld Journal of Surgical Oncology
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Rescuing monopronucleated-derived human blastocysts: a model to study chromosomal topography and fingerprinting.

2021

Objective To quantify the percentage of monopronuclear-derived blastocysts (MNBs) that are potentially useful for reproductive purposes using classic and state-of-the-art chromosome analysis approaches, and to study chromosomal distribution in the inner cell mass (ICM) and trophectoderm (TE) for intertissue/intratissue concordance comparison. Design Prospective experimental study. Setting Single-center in vitro fertilization clinic and reproductive genetics laboratory. Patient(s) A total of 1,128 monopronuclear zygotes were obtained between June 2016 and December 2018. Intervention(s) MNBs were whole-fixed or biopsied to obtain a portion of ICM and 2 TE portions (TE1 and TE2) and were subse…

0301 basic medicineConcordanceBiopsyBiologyPolymorphism Single NucleotideChromosomesAndrology03 medical and health sciences0302 clinical medicinemedicineInner cell massHumansProspective StudiesIn Situ Hybridization FluorescenceGenetic testing030219 obstetrics & reproductive medicineZygotePloidiesmedicine.diagnostic_testObstetrics and GynecologyChromosomeHigh-Throughput Nucleotide SequencingEmbryoDNA Fingerprinting030104 developmental biologyBlastocystReproductive MedicineBlastocyst Inner Cell MassFemalePloidyFluorescence in situ hybridizationFertility and sterility
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AISF position paper on nonalcoholic fatty liver disease (NAFLD): Updates and future directions

2017

Abstract This review summarizes our current understanding of nonalcoholic fatty liver disease (NAFLD), a multi-factorial systemic disease resulting from a complex interaction between a specific genetic background and multiple environmental/metabolic “hits”. The role of gut microbiota, lipotoxicity, inflammation and their molecular pathways is reviewed in-depth. We also discuss the epidemiology and natural history of NAFLD by pinpointing the remarkably high prevalence of NAFLD worldwide and its inherent systemic complications: hepatic (steatohepatitis, advanced fibrosis and cirrhosis), cardio-metabolic (cardiovascular disease, cardiomyopathy, arrhythmias and type 2 diabetes) and neoplastic (…

0301 basic medicineDiagnostic ImagingLiver Cirrhosismedicine.medical_specialtyCirrhosisEpidemiologySettore MED/12 - GASTROENTEROLOGIAPhysiopathologyNatural historyType 2 diabetesDiseaseDiagnosis; Epidemiology; Genetics; Management; Natural history; PhysiopathologyBioinformaticsGastroenterology03 medical and health sciences0302 clinical medicineGeneticNon-alcoholic Fatty Liver DiseaseInternal medicineNonalcoholic fatty liver diseaseDiagnosismedicineGeneticsHumansmedicine.diagnostic_testHepatologyDiagnosis; Epidemiology; Genetics; Management; Natural history; Physiopathology; Hepatology; Gastroenterologybusiness.industryLiver NeoplasmsGastroenterologyHepatologymedicine.diseaseManagement030104 developmental biologyLipotoxicityDiabetes Mellitus Type 2LiverCardiovascular DiseasesLiver biopsy030211 gastroenterology & hepatologySteatohepatitisbusinessBiomarkersDiagnosi
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The why, the how and the when of PGS 2.0

2016

STUDY QUESTION: We wanted to probe the opinions and current practices on preimplantation genetic screening (PGS), and more specifically on PGS in its newest form: PGS 2.0? STUDY FINDING: Consensus is lacking on which patient groups, if any at all, can benefit from PGS 2.0 and, a fortiori, whether all IVF patients should be offered PGS. WHAT IS KNOWN ALREADY: It is clear from all experts that PGS 2.0 can be defined as biopsy at the blastocyst stage followed by comprehensive chromosome screening and possibly combined with vitrification. Most agree that mosaicism is less of an issue at the blastocyst stage than at the cleavage stage but whether mosaicism is no issue at all at the blastocyst st…

0301 basic medicineEmbryologymedia_common.quotation_subjectFertilityBiology03 medical and health sciences0302 clinical medicinePregnancyGeneticsCleavage stagemedicineHumansGenetic TestingMolecular BiologyPreimplantation Diagnosismedia_commonGenetic testingGeneticsMedical educationblastocyst biopsy030219 obstetrics & reproductive medicinemedicine.diagnostic_testCompeting interestsurogenital systempreimplantation embryoObstetrics and Gynecologymassive parallel sequencingCell BiologyLarge scale dataEmbryo biopsyRedactionAneuploidyNew Research Horizon ReviewReproductive geneticsvitrification030104 developmental biologychromosomal abnormalitiesReproductive Medicinearray comparative genomic hybridizationFemalelipids (amino acids peptides and proteins)Developmental Biologypreimplantation genetic screeningMolecular Human Reproduction
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Diagnostic accuracy of elastography and magnetic resonance imaging in patients with NAFLD: A systematic review and meta-analysis

2021

[Background and Aims] Vibration-controlled transient elastography (VCTE), point shear wave elastography (pSWE), 2-dimensional shear wave elastography (2DSWE), magnetic resonance elastography (MRE), and magnetic resonance imaging (MRI) have been proposed as non-invasive tests for patients with non-alcoholic fatty liver disease (NAFLD). This study evaluated their diagnostic accuracy for liver fibrosis and non-alcoholic steatohepatitis (NASH).

0301 basic medicineFIBROSIS NONINVASIVE ASSESSMENTCirrhosisTransient elastographydeMILI0302 clinical medicineMedicineBARIATRIC SURGERY CANDIDATESNon-alcoholic steatohepatitismedicine.diagnostic_testNONALCOHOLIC STEATOHEPATITISFatty liverMagnetic Resonance Imaging3. Good healthArea Under CurveLiver biopsyElasticity Imaging TechniquesNASH-MRI030211 gastroenterology & hepatologyBio-markersRadiologyElastographyDiffusion-weighted imagingLife Sciences & BiomedicineAdultPREDICTS ADVANCED FIBROSISmedicine.medical_specialtyBiomarkers deMILI Diffusion-weighted imaging Magnetic resonance elastography NASH-MRI Non-alcoholic fatty liver disease Non-alcoholic steatohepatitis Shear wave elastography Transient elastography AdultArea Under Curve Elasticity Imaging Techniques Humans Magnetic Resonance Imaging Non-alcoholic Fatty Liver Disease ROC Curve fibro-MRI Iron-corrected T1 Liver fibrosisLiver fibrosisCONTROLLED ATTENUATION PARAMETERSTIFFNESS MEASUREMENT03 medical and health sciencesIron-corrected T1HumansFATTY LIVER-DISEASEScience & TechnologyHepatologyGastroenterology & Hepatologybusiness.industryRADIATION FORCE IMPULSEMagnetic resonance imagingmedicine.diseaseCONTROLLED TRANSIENT ELASTOGRAPHYMagnetic resonance elastography030104 developmental biologyROC CurveMagnetic resonance elastographyShear wave elastographyXL PROBEHuman medicinefibro-MRISteatohepatitisbusinessTransient elastographyBiomarkersNon-alcoholic fatty liver diseaseJournal of Hepatology
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Response to: 'Artery tertiary lymphoid organs in giant cell arteritis are not exclusively located in the media of temporal arteries' by Graver et al

2017

We thank Graver  et al 1 for their interest in our recently published article on artery tertiary lymphoid organs (ATLOs) in giant cell arteritis (GCA).2 The authors stained temporal artery biopsies of 21 biopsy-proven GCA patients (71% female, mean duration of disease of 2.3±0.9 months) that fulfilled the 1990 American College of Rheumatology classification criteria with anti-CD20 and anti-CD3 antibodies. On the basis of this experimental approach, they confirmed the presence of ATLOs only in the adventitia of inflamed arteries of GCA patients and not in the media as demonstrated in our study. This statement, however, is not supported in our opinion by the experimental approach chosen …

0301 basic medicineGenetics and Molecular Biology (all)medicine.medical_specialtyPathologyBiopsyGiant Cell ArteritisImmunologyDisease Activity; Giant Cell Arteritis; TreatmentBiochemistryGeneral Biochemistry Genetics and Molecular BiologyDisease activity03 medical and health sciences0302 clinical medicineRheumatologyInternal medicineAdventitiamedicineHumansImmunology and AllergyDisease ActivityGiant Cell Arteriti030203 arthritis & rheumatologyBiochemistry Genetics and Molecular Biology (all)business.industryArteriesmedicine.diseaseRheumatologyTemporal ArteriesTreatmentGiant cell arteritis030104 developmental biologymedicine.anatomical_structureLymphatic systemcardiovascular systemTemporal arterybusinessArtery
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Exome-Wide Association Study on Alanine Aminotransferase Identifies Sequence Variants in the GPAM and APOE Associated With Fatty Liver Disease.

2021

BACKGROUND & AIMS: Fatty liver disease (FLD) is a growing epidemic that is expected to be the leading cause of end-stage liver disease within the next decade. Both environmental and genetic factors contribute to the susceptibility of FLD. Several genetic variants contributing to FLD have been identified in exome-wide association studies. However, there is still a missing hereditability indicating that other genetic variants are yet to be discovered. METHODS: To find genes involved in FLD, we first examined the association of missense and nonsense variants with alanine amino transferase at an exome-wide level in 425,671 participants from the UK Biobank. We then validated genetic variants wit…

0301 basic medicineGenome-wide association studyLiver disease0302 clinical medicineENRICHMENT ANALYSISNon-alcoholic Fatty Liver DiseaseRisk FactorsNonalcoholic fatty liver diseaseExomeCONFERS SUSCEPTIBILITYGeneticsINSULIN-RESISTANCEmedicine.diagnostic_testFatty liverGastroenterologyAlanine Transaminase1-Acylglycerol-3-Phosphate O-Acyltransferase3. Good healthGENOMEEuropePhenotypeLiver biopsy030211 gastroenterology & hepatologyNonalcoholic Fatty Liver DiseaseMAFLDSingle-nucleotide polymorphismBiologyTransaminaseRisk Assessment03 medical and health sciencesApolipoproteins ENAFLDmedicineGenetic predispositionHumansGenetic Predisposition to DiseaseHEPATIC STEATOSISGenetic associationMAFLD Phenotype Reproducibility of Results Risk Assessment Risk Factors Transcriptome Genetic Variation Metabolic Associated Fatty Liver Disease Nonalcoholic Fatty Liver Disease Transaminase 1-Acylglycerol-3-Phosphate O-Acyltransferase Alanine Transaminase Apolipoproteins E Biomarkers Europe Exome Gene Expression Profiling Genetic Predisposition to Disease Genome-Wide Association Study Humans Non-alcoholic Fatty Liver DiseaseHepatologyMUTATIONSGene Expression ProfilingGenetic VariationReproducibility of Resultsmedicine.diseaseX-RECEPTORGENE030104 developmental biology3121 General medicine internal medicine and other clinical medicineMetabolic Associated Fatty Liver DiseaseRNA-SEQ DATATranscriptomePATHOGENICITYBiomarkersGenome-Wide Association StudyGastroenterology
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Second-generation preimplantation genetic testing for aneuploidy in assisted reproduction: a SWOT analysis.

2019

Second-generation preimplantation genetic testing for aneuploidy (PGT-A 2.0) in patients with an unfavourable reproductive and IVF prognosis is becoming common practice, with the aim of improving reproductive outcomes. However, there is still no clear evidence on the possible advantages and drawbacks with regard to this procedure. In this discussion paper, based on a SWOT (strengths, weaknesses, opportunities, threats) analysis, the different aspects of this strategy are evaluated. Current evidence suggests that PGT-A 2.0 should not at present have an indiscriminate application, but it might be indicated in cases in which the risk of aneuploidy is increased.

0301 basic medicineInfertilityPregnancy RateReproduction (economics)AneuploidyBlastocyst biopsy03 medical and health sciences0302 clinical medicinePregnancymedicineLive birthHumansIn patientGenetic TestingSWOT analysisPreimplantation DiagnosisGenetic testing030219 obstetrics & reproductive medicinePreimplantation genetic testingmedicine.diagnostic_testbusiness.industryAssisted reproductionObstetrics and Gynecologymedicine.diseaseAneuploidyImplantationAbortion Spontaneous030104 developmental biologyReproductive MedicineRisk analysis (engineering)InfertilityFemalebusinessLive birthDevelopmental Biology
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