Search results for "eps"

showing 10 items of 1777 documents

Lysosomal cathepsins B and L and Stefin A blood levels in patients with hepatocellular carcinoma and/or liver cirrhosis: potential clinical implicati…

1997

The serum levels of lysosomal cathepsin B and L and Stefin A, an intracellular inhibitor of these proteolytic enzymes, were determined in patients with hepatocellular carcinoma (HCC) and/or liver cirrhosis (LC) and correlated with some clinical and biochemical parameters of these diseases. Cathepsin B serum levels were increased in HCC and in LC patients as compared to normal subjects (p < 0.001). However no difference was observed between HCC and LC groups. Interestingly, a significant relationship was evidenced between cathepsin B serum content and the grade of severity of cirrhosis (r = 0.41; p < 0.001). Cathepsin L was significantly elevated only in sera of cancer patients as comp…

AdultLiver CirrhosisMaleCancer Researchmedicine.medical_specialtyPathologyCirrhosisCarcinoma HepatocellularHepatocellular carcinomaoteinase inhibitorCathepsin LLysosomal proteinaseGastroenterologyCathepsin BLiver cirrhosiCathepsin BCathepsin LInternal medicineEndopeptidasesmedicineCarcinomaHumansCystatin AStefin AAgedTumor progression.Aged 80 and overEnzyme PrecursorsbiologyLiver NeoplasmsProteolytic enzymesCancerGeneral MedicineMiddle Agedmedicine.diseaseCathepsinsCystatinsPrCysteine EndopeptidasesOncologyCystatin AHepatocellular carcinomabiology.proteinFemalealpha-FetoproteinsLysosomesOncology
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Cathepsin D serum mass concentrations in patients with hepatocellular carcinoma and/or liver cirrhosis

1996

Cathepsin D serum mass concentrations were determined by enzyme immunoassay in patients with hepatocellular carcinoma (n = 51) and/or liver cirrhosis (n = 92) or benign steatosis (n = 16) and correlated with some biochemical and clinical properties of these diseases. Increased cathepsin D serum mass concentrations (P < 0.001) were observed in all these groups of patients as compared to normal subjects (n = 98). However, patients with steatosis had serum mass concentrations of this enzyme significantly lower (mean 2—3 fold) than those measured in cancer patients (P < 0.05) or cirrhotic patients (P < 0.001). Interestingly, significantly higher cathepsin D serum mass concentrations (m…

AdultLiver CirrhosisMalemedicine.medical_specialtyCirrhosisCarcinoma HepatocellularClinical BiochemistryeducationLiver cirrhosis tumor markrersCathepsin DBiologymedicine.disease_causeCathepsin DImmunoenzyme TechniquesInternal medicinemedicineHumansAgedchemistry.chemical_classificationmedicine.diagnostic_testHepatitis AlcoholicBiochemistry (medical)Liver NeoplasmsGeneral Medicinehepatocellular carcinomaMiddle Agedmedicine.diseaseEnzymeEndocrinologychemistryImmunoassayHepatocellular carcinomaFemalealpha-FetoproteinsSteatosisCarcinogenesisLiver function tests
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Do neurologists agree in diagnosing drug resistance in adults with focal epilepsy?

2019

Objective: To evaluate interrater agreement in categorizing treatment outcomes and drug responsiveness status according to the International League Against Epilepsy (ILAE) definition of drug-resistant epilepsy. Methods: A total of 1053 adults with focal epilepsy considered by the investigators to meet ILAE criteria for drug resistance were enrolled consecutively at 43 centers and followed up prospectively for 18-34 months. Treatment outcomes for all antiepileptic drugs (AEDs) used up to enrollment (retrospective assessment), and on an AED newly introduced at enrollment, were categorized by individual investigators and by 2 rotating members of a 16-member expert panel (EP) that reviewed the …

AdultMale0301 basic medicineDrug Resistant Epilepsymedicine.medical_specialtyPediatricsNeurologyAttitude of Health PersonnelTreatment outcomeantiepileptic drugs; classification; drug-resistant epilepsy; epilepsy; ILAE definition; reliability; Neurology; Neurology (clinical)Drug resistance03 medical and health sciencesEpilepsyantiepileptic drug0302 clinical medicinedrug-resistant epilepsymedicineHumansNeurologistsProspective Studiesantiepileptic drugsCooperative Behaviorreliabilitybusiness.industryMiddle Agedmedicine.diseaseDrug Resistant EpilepsyConfidence intervalInter-rater reliability030104 developmental biologyclassificationNeurologyepilepsyAnticonvulsantsFemaleEpilepsies PartialNeurology (clinical)businessILAE definition030217 neurology & neurosurgeryKappa
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Breakdown of Thalamo-Cortical Connectivity Precedes Spike Generation in Focal Epilepsies

2017

Electroencephalography (EEG) spikes and focal epileptic seizures are generated in circumscribed cerebral networks that have been insufficiently described. For precise time and spatial domain network characterization, we applied in patients with focal epilepsy dense array 256-channel EEG recordings with causal connectivity estimation by using time-resolved partial directed coherence and 3T-magnetic resonance imaging-derived cortical and thalamus integrity reconstruction. Before spike generation, significant theta and alpha bands driven information flows alterations were noted from both temporal and frontal lobes to the thalamus and from the thalamus to the frontal lobe. Medial dorsal and ven…

AdultMale0301 basic medicineThalamusAction PotentialsElectroencephalographySensitivity and Specificity03 medical and health sciencesEpilepsy0302 clinical medicineThalamusBiological ClocksNeural PathwaysConnectomemedicineHumansIn patientFocal EpilepsiesCerebral CortexDense arraymedicine.diagnostic_testGeneral NeuroscienceReproducibility of ResultsElectroencephalographymedicine.disease030104 developmental biologyThalamo corticalFrontal lobeFemaleEpilepsies PartialNerve NetPsychologyNeuroscience030217 neurology & neurosurgeryBrain Connectivity
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Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four‐member family and an unrelated boy

2020

Abstract Background Deletions in chromosome 15q13 have been reported both in healthy people and individuals with a wide range of behavioral and neuropsychiatric disturbances. Six main breakpoint (BP) subregions (BP1‐BP6) are mapped to the 15q13 region and three further embedded BP regions (BP3‐BP5). The deletion at BP4‐BP5 is the rearrangement most frequently observed compared to other known deletions in BP3‐BP5 and BP3‐BP4 regions. Deletions of each of these three regions have previously been implicated in a variable range of clinical phenotypes, including minor dysmorphism, developmental delay/intellectual disability, epilepsy, autism spectrum disorders, behavioral disturbances, and speec…

AdultMale0301 basic medicinespeech delayAdolescentlcsh:QH426-470BP3-BP5 deletionspeech delay.Chromosome DisordersLocus (genetics)030105 genetics & heredity03 medical and health sciencesEpilepsySettore MED/38 - Pediatria Generale E SpecialisticaSeizuresIntellectual DisabilityIntellectual disabilitychromosome 15 q13GeneticsmedicineHumansLanguage Development DisordersChildMolecular BiologyGenetics (clinical)GeneticsChromosomes Human Pair 15business.industryBreakpointlanguage impairmentOriginal Articlesmedicine.diseasePhenotypePedigreeBP3‐BP5 deletiondevelopmental delayLanguage developmentlcsh:GeneticsPhenotype030104 developmental biologyBP3-BP5 deletion; chromosome 15 q13; developmental delay; language impairment; speech delaySpeech delayAutismFemaleOriginal ArticleChromosome Deletionmedicine.symptombusinessMolecular Genetics & Genomic Medicine
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Cross-sectional study of quadriceps properties and postural stability in patients with chronic stroke and limited vs. non-limited community ambulatio…

2019

Background: Changes in the paretic-side metabolism post-stroke and quadriceps muscle mechanical properties favour muscle wasting, affecting postural instability and walking impairment. Further clar...

AdultMale030506 rehabilitationmedicine.medical_specialtyCross-sectional studyWalkingQuadriceps Muscle03 medical and health sciences0302 clinical medicinePhysical medicine and rehabilitationIsometric ContractionmedicineHumansIn patientMuscle StrengthMuscle SkeletalWastingStrokeChronic strokePostural BalanceBalance (ability)AgedUltrasonographyCommunity and Home CareAged 80 and overbusiness.industryRehabilitationQuadriceps muscleMiddle Agedmedicine.diseaseWalking SpeedParesisStrokeCross-Sectional StudiesThighPostural stabilityFemalesense organsNeurology (clinical)Independent Livingmedicine.symptom0305 other medical sciencebusinessSkin Temperature030217 neurology & neurosurgeryTopics in stroke rehabilitation
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The latent structure of the functional dyspepsia symptom complex: A taxometric analysis

2016

OBJECTIVES: Rome III introduced a subdivision of functional dyspepsia (FD) into postprandial distress syndrome and epigastric pain syndrome, characterized by early satiation/postprandial fullness, and epigastric pain/burning, respectively. However, evidence on their degree of overlap is mixed. We aimed to investigate the latent structure of FD to test whether distinguishable symptom-based subgroups exist. METHODS: Consecutive tertiary care Rome II FD patients completed the dyspepsia symptom severity scale. Confirmatory factor analysis (CFA) was used to compare the fit of a single factor model, a correlated three-factor model based on Rome III subgroups and a bifactor model consisting of a g…

AdultMaleAbdominal painAdolescentPhysiologyEpigastric painYoung Adult03 medical and health sciences0302 clinical medicineSurveys and QuestionnairesmedicineHumansDyspepsiaLatent structureAgedAged 80 and overTertiary HealthcareEndocrine and Autonomic Systemsbusiness.industrySingle factorGastroenterologyNauseaMiddle AgedClassificationPostprandial Periodmedicine.diseaseRome iiiConfirmatory factor analysisAbdominal PainDistress030220 oncology & carcinogenesisFemale030211 gastroenterology & hepatologymedicine.symptombusinessSomatizationClinical psychology
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PRRT2 mutations are the major cause of benign familial infantile seizures.

2012

Mutations in PRRT2 have been described in paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions with choreoathetosis (PKD with infantile seizures), and recently also in some families with benign familial infantile seizures (BFIS) alone. We analyzed PRRT2 in 49 families and three sporadic cases with BFIS only of Italian, German, Turkish, and Japanese origin and identified the previously described mutation c.649dupC in an unstable series of nine cytosines to occur in 39 of our families and one sporadic case (77% of index cases). Furthermore, three novel mutations were found in three other families, whereas 17% of our index cases did not show PRRT2 mutations, including a large fami…

AdultMaleAdolescentChoreoathetosisNerve Tissue ProteinsBiologymedicine.disease_causeSeizures FebrileInfantile seizures03 medical and health sciencesEpilepsy0302 clinical medicineGeneticsmedicineHumansChildGenetics (clinical)030304 developmental biologyAgedGenetics0303 health sciencesMutationBenign familial infantile epilepsyEpilepsyPRRT2; EpilepsyInfantMembrane ProteinsParoxysmal dyskinesiaMiddle Agedmedicine.diseaseMajor genePedigreeChild PreschoolMutationPRRT2medicine.symptomSpasms Infantile030217 neurology & neurosurgeryPRRT2Human mutation
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Erratum to typical asymmetry in the hemispheric activation during an fMRI verbal comprehension paradigm is related to better performance in verbal an…

2019

Chronic exposure to seizures in patients with left hemisphere (LH) epileptic focus could favor higher activation in the contralateral hemisphere during language processing, but the cognitive effects of this remain unclear. This study assesses the relationship between asymmetry in hemispheric activation during language fMRI and performance in verbal and non-verbal tasks. Whereas prior studies primarily used fMRI paradigms that favor frontal lobe activation and less prominent activation of the medial or superior temporal lobes, we used a verbal comprehension paradigm previously demonstrated to activate reliably receptive language areas. Forty-seven patients with drug-resistant epilepsy candid…

AdultMaleAdolescentCognitive NeuroscienceArticleFunctional LateralityNonverbal communicationEpilepsyYoung AdultText miningCognitionmedicineHumansRadiology Nuclear Medicine and imagingVerbal comprehensionIn patientLanguageBrain MappingEpilepsybusiness.industrymedicine.diseaseMagnetic Resonance ImagingNeurologyFemaleNeurology (clinical)businessPsychologyComprehensionCognitive psychologyNeuroImage : Clinical
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Large-scale network architecture and associated structural cortico-subcortical abnormalities in patients with sleep/awake-related seizures.

2019

Study objectives In this study, we aimed to estimate the alterations of brain networks and structural integrity linked to seizure occurrence during sleep and awake states. Methods Using a graph theory approach to magnetic resonance imaging-derived volumes of cortical and subcortical regions, we investigated the topological organization of structural networks in patients with sleep seizures (n = 13), patients with awake seizures (n = 12), and age- and sex-matched healthy controls (n = 10). Abnormalities in regional structural substrates (cortical volume/surface area, subcortical volumes) associated with sleep seizures and awake seizures were further analyzed. Results Brain networks in patien…

AdultMaleAdolescentHippocampusEpileptogenesisAmygdala03 medical and health sciencesYoung Adult0302 clinical medicineSeizuresPhysiology (medical)medicineHumansIn patientWakefulnessCerebral CortexBrain MappingEpilepsymedicine.diagnostic_testbusiness.industryPutamenMagnetic resonance imagingMiddle AgedSleep in non-human animalsMagnetic Resonance Imagingmedicine.anatomical_structure030228 respiratory systemFemaleNeurology (clinical)Nerve NetbusinessSleepInsulaNeuroscience030217 neurology & neurosurgerySleep
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