Search results for "Surgery."

showing 10 items of 15774 documents

Mitochondrial DNA haplogroups J and T increase the risk of glioma.

2021

The presence of different sets of mitochondrial polymorphisms generated by the accumulation of mutations in different maternal lineages has allowed differentiating mitochondrial haplogroups in human populations. These polymorphisms, in turn, may have effects at the phenotypic level, considering a possible contribution of these germinal mutations to the development of certain diseases such as cancer. The main goal of the present study is to establish a possible association between mitochondrial haplogroups and the risk of suffering glioma. Blood samples were obtained from 32 patients from Catalonia (Spain) diagnosed with different grades of glioma (II, III and IV), according to the World Hea…

0301 basic medicineAdultMaleMitochondrial DNAPopulationBiologyDNA MitochondrialHaplogroup03 medical and health sciences0302 clinical medicineGliomamedicineHumansGenetic Predisposition to DiseaseeducationMolecular BiologyGeneticseducation.field_of_studyBrain NeoplasmsCancerCell BiologyGliomamedicine.diseasePhenotype030104 developmental biologyIncreased riskHaplotypesMolecular MedicineFemale030217 neurology & neurosurgeryHuman mitochondrial DNA haplogroupMitochondrion
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Different Brain Circuitries Mediating Controllable and Uncontrollable Pain.

2015

Uncontrollable, compared with controllable, painful stimulation can lead to increased pain perception and activation in pain-processing brain regions, but it is currently unknown which brain areas mediate this effect. When pain is controllable, the lateral prefrontal cortex (PFC) seems to inhibit pain processing, although it is unclear how this is achieved. Using fMRI in healthy volunteers, we examined brain activation during controllable and uncontrollable stimulation to answer these questions. In the controllable task, participants self-adjusted temperatures applied to their hand of pain or warm intensities to provoke a constant sensation. In the uncontrollable task, the temperature time …

0301 basic medicineAdultMaleNociceptionAdolescentPainPrefrontal CortexStimulus (physiology)AnxietyBrain mappingbehavioral disciplines and activities03 medical and health sciencesYoung Adult0302 clinical medicineSensationmedicineHumansThermosensingPrefrontal cortexAnterior cingulate cortexInternal-External ControlPain MeasurementCerebral CortexBrain MappingGeneral NeuroscienceBrainArticlesMagnetic Resonance ImagingHealthy VolunteersDorsolateral prefrontal cortex030104 developmental biologymedicine.anatomical_structureNociceptionFemaleNerve NetPsychologyInsulaNeuroscience030217 neurology & neurosurgerypsychological phenomena and processesThe Journal of neuroscience : the official journal of the Society for Neuroscience
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Intrathecal B-cell accumulation and axonal damage distinguish MRI-based benign from aggressive onset in MS.

2019

ObjectiveWe explored the incremental value of adding multiple disease activity biomarkers in CSF and serum for distinguishing MRI-based benign from aggressive MS in early disease course.MethodsNinety-three patients diagnosed with clinically isolated syndrome (CIS) or early MS were divided into 3 nonoverlapping severity groups defined by objective MRI criteria. Ninety-seven patients with noninflammatory neurologic disorders and 48 patients with other inflammatory neurologic diseases served as controls. Leukocyte subsets in the CSF were analyzed by flow cytometry. CSF neurofilament light chain (NfL) and chitinase-3-like protein 1 (CHI3L1) levels were measured by ELISA. Serum NfL levels were e…

0301 basic medicineAdultMalePathologymedicine.medical_specialtyAdolescent41medicine.medical_treatmentCHI3L1ArticleFlow cytometryCohort Studies03 medical and health sciencesYoung Adult0302 clinical medicineText miningMultiple Sclerosis Relapsing-RemittingNeurofilament ProteinsMedicineHumansB cellAgedCD20Aged 80 and overB-LymphocytesClinically isolated syndromebiologymedicine.diagnostic_testbusiness.industryMultiple sclerosisImmunotherapyMiddle Agedmedicine.diseaseMagnetic Resonance ImagingAxons030104 developmental biologymedicine.anatomical_structureCross-Sectional StudiesNeurologybiology.proteinDisease ProgressionFemaleNeurology (clinical)business030217 neurology & neurosurgeryDemyelinating DiseasesNeurology(R) neuroimmunologyneuroinflammation
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Malignant granular cell tumor of soft tissues: a study of two new cases.

2001

We describe 2 cases of malignant granular cell tumor. A marked discrepancy exists concerning the criteria of malignancy of this rare entity, which was diagnosed in male patients aged 41 and 52 years, respectively. They presented with tumors measuring more then 3.5 cm; one arose in the dermis and subcutaneous tissue in the region of the scapula, whereas the other was situated in deeper soft tissue in the pelvis. One case, with previous diagnosis of benign granular cell tumor, presented local recurrence 2 years after the initial diagnosis. The other case presented a fascicular pattern of growth invading adjacent muscular tissue. Both neoplasms were composed of polygonal and spindle cells, sho…

0301 basic medicineAdultMalePathologymedicine.medical_specialtyBenign Granular Cell TumorVimentinSoft Tissue NeoplasmsBiologyMalignancyPathology and Forensic Medicine03 medical and health sciences0302 clinical medicineDermismedicineMalignant Granular Cell TumorHumansSoft tissueAnatomyMiddle Agedmedicine.diseaseImmunohistochemistry030104 developmental biologymedicine.anatomical_structureGranular Cell Tumor030220 oncology & carcinogenesisbiology.proteinImmunohistochemistrySurgeryAnatomySubcutaneous tissueInternational journal of surgical pathology
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Expression of NF-κB and IL-6 in oral precancerous and cancerous lesions: An immunohistochemical study.

2014

Background The purpose of this study was to evaluate the immunohistochemical expression of NF-κB and IL-6 in oral premalignant and malignant lesions and to investigate their possible correlation with the presence of subepithelial inflammation. Material and Methods Thirty two oral premalignant lesions, clinically compatible with leukoplakia or erythroplakia, were investigated. Microscopically, 11 of them showed hyperkeratosis and acanthosis (epithelial hyperplasia) and 21 showed dysplasia of varying degrees. Nine cases of OSCC and four control cases of normal oral mucosa were also included in the study. Immunohistochemical staining with NF-κB (p65) and IL-6 was performed. IL-6 and nuclear NF…

0301 basic medicineAdultMalePathologymedicine.medical_specialtyHyperkeratosisOdontologíaAcanthosis03 medical and health sciences0302 clinical medicineMedicineHumansGeneral DentistryLeukoplakiaAgedMouth neoplasmAged 80 and overErythroplakiaOral Medicine and Pathologybusiness.industryInterleukin-6ResearchNF-kappa BMiddle Aged:CIENCIAS MÉDICAS [UNESCO]medicine.diseaseCiencias de la saludImmunohistochemistrystomatognathic diseases030104 developmental biologyOtorhinolaryngologyDysplasia030220 oncology & carcinogenesisUNESCO::CIENCIAS MÉDICASImmunohistochemistrySurgeryFemaleMouth NeoplasmsbusinessPrecancerous ConditionsImmunostainingLeukoplakiaMedicina oral, patologia oral y cirugia bucal
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The largest caucasian kindred with dentatorubral-pallidoluysian atrophy: A founder mutation in italy

2019

BACKGROUND: Dentatorubral-pallidoluysian atrophy is a hereditary neurodegenerative disease prevalently reported in Japan but rare in Caucasians. The objective of this study was to reconstruct the pedigree of Italian dentatorubral-pallidoluysian atrophy familial cases describing their clinical features. METHODS: We investigated 6 apparently unrelated dentatorubral-pallidoluysian atrophy families comprising a total of 51 affected individuals: 13 patients were clinically examined, and for 38 patients clinical data were collected from clinical sources. The dentatorubral-pallidoluysian atrophy diagnosis was genetically confirmed in 18 patients. Genealogical data from historical archives were ana…

0301 basic medicineAdultMalePediatricsmedicine.medical_specialtyAdolescentDiseaseNeuropsychological TestsWhite People03 medical and health sciencesEpilepsyYoung Adult0302 clinical medicineAtrophyTrinucleotide Repeatsdentatorubral-pallidoluysian atrophymedicineHumansFamilyATN1 geneChildFounder mutationAgedDentatorubral-pallidoluysian atrophyEpilepsybusiness.industrygenealogical methodMiddle Agedmedicine.diseaseMyoclonic Epilepsies ProgressivePedigree030104 developmental biologyfounder effectNeurologyCerebellar cognitive affective syndromeItalycerebellar cognitive-affective syndromeMutationFemaleNeurology (clinical)business030217 neurology & neurosurgeryFounder effect
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Clinical course of sly syndrome (mucopolysaccharidosis type VII).

2016

WOS: 000377110800007

0301 basic medicineAdultMalePediatricsmedicine.medical_specialtyAdolescentMucopolysaccharidosisSly syndromeHepatosplenomegalyMetabolic disordersMucopolysaccharidosis VIIMedical and Health Sciences03 medical and health sciencesYoung Adult0302 clinical medicineHydrops fetalisSurveys and QuestionnairesmedicineGeneticsHumansMedical history1506Clinical geneticsFamily historyPreschoolChildGenetics (clinical)GlucuronidaseGenetics & Hereditybusiness.industryGenotype-Phenotype CorrelationsMucopolysaccharidosis VIIInfantEnzyme replacement therapyBiological Sciencesmedicine.diseaseLysosomal Storage Diseases030104 developmental biologyPhenotypeClinical genetics Genetics Metabolic disordersChild PreschoolFemalemedicine.symptombusiness030217 neurology & neurosurgeryMPS ; lysosomal storage disease ; β-glucuronidase
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Esophageal Atresia with or without Tracheoesophageal Fistula (EA/TEF): Association of Different EA/TEF Subtypes with Specific Co-occurring Congenital…

2017

Background Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) represents the most common developmental malformation of the upper digestive tract. It is classified into six subtypes according to the classification of Vogt, depending on anatomical variation of this malformation. Around 50% of the patients with EA/TEF present additional anomalies, which often influence, next to the EA/TEF subtype, the overall prognosis of EA/TEF newborns. Here, we investigated the association of the different EA/TEF subtypes with co-occurring congenital anomalies in EA/TEF patients and demonstrate their implications for postnatal diagnostic workup. Materials and Methods We investigated 333 …

0301 basic medicineAdultMalePediatricsmedicine.medical_specialtyFuture studiesAdolescentPopulationCardiovascular AbnormalitiesTracheoesophageal fistula030105 genetics & heredityUpper digestive tract03 medical and health sciencesYoung AdultCo occurringmedicinePrevalenceHumansAbnormalities MultipleRegistrieseducationChildEsophageal AtresiaRetrospective Studieseducation.field_of_studyChi-Square Distributionbusiness.industrymedicine.diseaseMulticenter studyAtresiaChild PreschoolUrogenital Abnormalitiesembryonic structuresPediatrics Perinatology and Child HealthSurgeryFemalebusinessClinical recordDigestive System AbnormalitiesTracheoesophageal FistulaEuropean journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie
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Functional microbiome deficits associated with ageing: chronological age-threshold

2019

Composition of the gut microbiota changes during ageing, but questions remain about whether age is also associated with deficits in microbiome function and whether these changes occur sharply or progressively. The ability to define these deficits in populations of different ages may help determine a chronological age threshold at which deficits occur and subsequently identify innovative dietary strategies for active and healthy ageing. Here, active gut microbiota and associated metabolic functions were evaluated using shotgun proteomics in three well‐defined age groups consisting of 30 healthy volunteers, namely, ten infants, ten adults and ten elderly individuals. Samples from each volunte…

0301 basic medicineAdultMaleProteomicsAgingmedia_common.quotation_subjectPhysiologyGut flora03 medical and health sciences0302 clinical medicineGut bacteriaHumansMetabolomicsMicrobiomeVolunteermedia_commonAgedbiologyMicrobiotaLongevityAge FactorsTryptophanCell BiologyChronological agebiology.organism_classificationHealthy VolunteersAgeing030104 developmental biologyEditorialAgeingIndoleChild PreschoolFemaleMicrobiome030217 neurology & neurosurgeryCohort study
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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
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