Search results for "Filament"

showing 10 items of 405 documents

Serum neurofilament light chain is a biomarker of acute and chronic neuronal damage in early multiple sclerosis.

2018

Background: Monitoring neuronal injury remains one key challenge in early relapsing-remitting multiple sclerosis (RRMS) patients. Upon axonal damage, neurofilament – a major component of the neuro-axonal cytoskeleton – is released into the cerebrospinal fluid (CSF) and subsequently peripheral blood. Objective: To investigate the relevance of serum neurofilament light chain (sNfL) for acute and chronic axonal damage in early RRMS. Methods: sNfL levels were determined in 74 patients (63 therapy-naive) with recently diagnosed clinically isolated syndrome (CIS) or RRMS using Single Molecule Array technology. Standardized 3 T magnetic resonance imaging (MRI) was performed at baseline and 1–3 con…

AdultMalePathologymedicine.medical_specialtyNeurofilamentMultiple SclerosisNeurofilament lightIntermediate FilamentsSeverity of Illness IndexDisease activity03 medical and health sciencesYoung Adult0302 clinical medicineNeuronal damageNeurofilament ProteinsMedicineHumans030212 general & internal medicineNeuronsbusiness.industryMultiple sclerosisNeurodegenerationBrainMiddle Agedmedicine.diseaseNeurologyBiomarker (medicine)FemaleNeurology (clinical)Atrophybusiness030217 neurology & neurosurgeryClinical progressionBiomarkersMultiple sclerosis (Houndmills, Basingstoke, England)
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A poorly differentiated synovial sarcoma (SYT/SSX1) expresses neuroectodermal markers: a xenografts and in vitro culture study.

2004

Synovial sarcoma (SS) is a neoplasm that poses diagnostic problems, due to its histologic heterogeneity. The poorly differentiated variant, in particular, may be histologically indistinguishable from other small round cell tumors. Detection of the synovial sarcoma-associated t(X;18) or SYT-SSX fusion transcripts may be necessary to confirm the diagnosis of SS in difficult cases. Most of SS carry a t(X;18) in about one third of cases as the sole cytogenetic abnormality. We evaluated a case of poorly differentiated synovial sarcoma and their derived tumors in nude mice xenografts and cell cultures. We used a panel of antibodies (including those to intermediate filament, nerve-sheath associate…

AdultMalePathologymedicine.medical_specialtyOncogene Proteins FusionMice NudeNeuroectodermal TumorsPolymerase Chain ReactionPathology and Forensic MedicineDiagnosis DifferentialMiceSarcoma SynovialImmunophenotypingAntigenmedicineTumor Cells CulturedNeoplasmAnimalsHumansIntermediate filamentMolecular BiologyIn Situ HybridizationbiologyImmunochemistryCell DifferentiationCell Biologymedicine.diseaseXenograft Model Antitumor AssaysSynovial sarcomaIn vitroCell cultureKaryotypingbiology.proteinButtocksAntibodyBiomarkersDiagnostic molecular pathology : the American journal of surgical pathology, part B
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Intermediate filaments and desmosomal plaque proteins in testicular seminomas and non-seminomatous germ cell tumours as revealed by immunohistochemis…

1987

Seminomas and non-seminomatous testicular germ cell tumours were studied for the presence of cytokeratin and vimentin filaments and desmosomes using immunohistochemical methods. In the majority of the classical seminomas and in seminomatous areas of mixed tumours most tumour cells appeared to lack cytokeratin filaments. Some seminomas contained a focally variable proportion of cells exhibiting cytokeratin-positive structures while other cases contained only few seminoma cells with a well developed fibrillar cytokeratin network. Gel electrophoresis of cytoskeletal proteins from microdissected regions revealed cytokeratin polypeptides nos. 8 and 18 typical of simple epithelia. In one seminoma…

AdultMalePathologymedicine.medical_specialtyendocrine system diseasesAdolescentIntermediate FilamentsFluorescent Antibody TechniqueVimentinmacromolecular substancesAntigen-Antibody ComplexDysgerminomaBiologyurologic and male genital diseasesAntibodiesPathology and Forensic MedicineEmbryonal carcinomaCytokeratinTesticular NeoplasmsmedicineCarcinomaHumansVimentinIntermediate filamentMolecular BiologyCytoskeletonDesmoplakinMembrane ProteinsCell BiologyGeneral MedicineSeminomaDesmosomesmedicine.diseaseCytoskeletal ProteinsMicroscopy Electronmedicine.anatomical_structureDesmoplakinsbiology.proteinKeratinsGerm cellVirchows Archiv. A, Pathological anatomy and histopathology
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Apoptosis-related Proteins in Skeletal Muscle Fibers of Spinal Muscular Atrophy

1997

There is evidence that apoptosis in spinal muscular atrophies (SMA) is not restricted to motor neurons but also affects muscle fibers. Studying the expression of several apoptosis-associated proteins we found constant expression of bax in muscle fibers, which promoted cell death. The expression of bax correlated with defective innervation of muscle fibers was also indicated by upregulation of N-CAM. While in early-onset SMA atrophic as well as normo- and hypertrophic muscle fibers displayed expression of bax, muscle fibers in late-onset SMA and peripheral neuropathies showed bax-expression only in atrophic fibers. Other investigated apoptosis-associated factors comprised interleukin-1 beta …

AdultMaleProgrammed cell deathPathologymedicine.medical_specialtyMuscle Fibers Skeletalbcl-X ProteinMuscle ProteinsApoptosisBiologyMicrofilamentPathology and Forensic MedicineMuscular Atrophy SpinalCellular and Molecular NeuroscienceReference ValuesProto-Oncogene ProteinsmedicineHumansMyocyteMuscle SkeletalActinAgedbcl-2-Associated X ProteinCaspase 1InfantPeripheral Nervous System DiseasesGeneral MedicineSpinal muscular atrophyMiddle AgedSMA*Spinal muscular atrophiesmedicine.diseaseCell biologyCysteine EndopeptidasesProto-Oncogene Proteins c-bcl-2NeurologyFemaleNeural cell adhesion moleculeNeurology (clinical)Journal of Neuropathology and Experimental Neurology
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Studies on the subcellular pathophysiology of sublethal chronic cell injury.

1974

Summary This paper summarizes some of the important subcellular events occurring after chronic sublethal cell injury. Chronic cell injury is defined as the result of injurious stimuli which permit cell survival though in altered steady states for protracted periods of time. The importance of ultrastructural and biochemical studies of these phenomena is emphasized. Among the phenomena discussed are alterations in lysosomes, cellular hypertrophy, fatty metamorphosis, alterations in microfilaments and microtubules, alterations in mechanisms of transcription and replication, disturbances in the cell surface and transport across the cell membrane, and alterations in intracellular transport.

AdultMaleTime FactorsTranscription GeneticSurface PropertiesCellsCellGuinea PigsBronchiBiologyMicrofilamentMicrotubulesPathology and Forensic MedicineMuscle hypertrophyCell Physiological PhenomenaCell membraneMiceMicrotubuleTranscription (biology)medicineAnimalsHumansCerebral CortexMacrophagesMusclesCell MembraneBiological TransportGeneral MedicineHypertrophyMiddle AgedPathophysiologyCell biologyMicroscopy Electronmedicine.anatomical_structureLiverUltrastructureRabbitsLysosomesCell DivisionBeitrage zur Pathologie
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Association of intrathecal pleocytosis and IgG synthesis with axonal damage in early MS

2020

ObjectiveTo investigate the association of serum neurofilament light chain (sNfL) levels with CSF parameters in clinically isolated syndrome (CIS) and early relapsing-remitting MS (RRMS), taking into account radiologic and clinical parameters of disease activity.MethodsSimultaneously collected serum and CSF samples of 112 untreated patients newly diagnosed with CIS or RRMS were included in this cross-sectional study. CSF parameters were obtained as part of routine diagnostic tests. sNfL levels of patients and of 62 healthy donors were measured by highly sensitive single molecule array (SiMoA) immunoassay.ResultsPatients with RRMS (n = 91, median 10.13 pg/mL, interquartile range [IQR] 6.67–1…

AdultMalemedicine.medical_specialty41LeukocytosisNeurofilament lightInflammationIntrathecalGastroenterologyArticleLeukocyte CountMultiple Sclerosis Relapsing-RemittingNeurofilament ProteinsInterquartile rangeInternal medicinemedicineHumansPleocytosisInflammationClinically isolated syndromemedicine.diagnostic_testbusiness.industryAxonsHighly sensitiveCross-Sectional StudiesNeurologyImmunoglobulin GImmunoassayFemaleNeurology (clinical)medicine.symptombusinessNeurology - Neuroimmunology Neuroinflammation
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Exercise Diminishes Plasma Neurofilament Light Chain and Reroutes the Kynurenine Pathway in Multiple Sclerosis

2020

ObjectiveTo examine acute (single-bout) and training effects of high-intensity interval training (HIIT) vs standard exercise therapy (moderate continuous training [MCT]) on plasma neurofilament light chain (pNfL) and kynurenine (KYN) pathway of tryptophan degradation metabolites in persons with multiple sclerosis (pwMS).MethodsSixty-nine pwMS (Expanded Disability Status Scale score 3.0–6.0) were randomly assigned to a HIIT or an MCT group. Changes in pNfL and KYN pathway metabolites measured in blood plasma were assessed before, after, and 3 hours after the first training session as well as after the 3-week training intervention.ResultsAcute exercise reduced pNfL and increased the KYN pathw…

AdultMalemedicine.medical_specialtyMultiple SclerosisKynurenine pathway41132NeuroprotectionArticleInterval trainingchemistry.chemical_compoundKynurenic acidNeurofilament ProteinsInternal medicineBlood plasmamedicineHumansSingle-Blind MethodProspective StudiesExerciseKynurenineAgedAged 80 and overExpanded Disability Status Scalebusiness.industryMultiple sclerosisTryptophanMiddle Agedmedicine.diseaseExercise TherapyEndocrinologyNeurologychemistryFemaleNeurology (clinical)businessKynurenineNeurology - Neuroimmunology Neuroinflammation
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Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

1999

Muscle contraction results from the force generated between the thin filament protein actin and the thick filament protein myosin, which causes the thick and thin muscle filaments to slide past each other. There are skeletal muscle, cardiac muscle, smooth muscle and non-muscle isoforms of both actin and myosin. Inherited diseases in humans have been associated with defects in cardiac actin (dilated cardiomyopathy and hypertrophic cardiomyopathy), cardiac myosin (hypertrophic cardiomyopathy) and non-muscle myosin (deafness). Here we report that mutations in the human skeletal muscle alpha-actin gene (ACTA1) are associated with two different muscle diseases, 'congenital myopathy with excess o…

AdultMalemedicine.medical_specialtyMyofilamentAdolescentDNA Mutational AnalysisMolecular Sequence Datamacromolecular substancesBiologyMyopathies NemalineTPM203 medical and health sciences0302 clinical medicineNemaline myopathyMuscular DiseasesInternal medicineMyosinGeneticsmedicineHumansPoint MutationAmino Acid SequenceChildMuscle SkeletalPolymorphism Single-Stranded ConformationalActin030304 developmental biologyFamily Health0303 health sciencesPolymorphism GeneticBase SequenceSequence Homology Amino AcidInfantSkeletal muscleDNASequence Analysis DNAmedicine.diseaseCongenital myopathyActins3. Good healthEndocrinologymedicine.anatomical_structureAmino Acid SubstitutionChild PreschoolMutationFemaleMYH7030217 neurology & neurosurgery
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Does Cytokeratin7/20 immunoreactivity help to distinguish Barrett's esophagus from gastric intestinal metaplasia? Results of a prospective study of 7…

2005

Barrett's esophagus is a recognized risk factor for the development of esophageal dysplasia and carcinoma. Unfortunately, gastric incomplete intestinal metaplasia arising in Short Segment Barrett's esophagus can be indistinguishable histologically on hematoxylin/eosin stains. Distinct patterns of CK 7 and CK 20 immunohistochemical expression have been demonstrated to be both highly sensitive and specific for Barrett's esophagus, but have not been found in gastric metaplasia. The aim of our study was to test whether immunostaining with CK 7/20 helps to distinguish between Barrett's epithelium and gastric incomplete metaplasia. Cases of long segment Barrett's esophagus, short segment Barrett'…

AdultMalemedicine.medical_specialtyPathologyH&E stainKeratin-20digestive systemGastroenterologyPathology and Forensic MedicineDiagnosis DifferentialBarrett EsophagusIntermediate Filament ProteinsPredictive Value of TestsInternal medicineMetaplasiaBiomarkers TumorPyloric AntrummedicineCarcinomaHumansProspective StudiesEsophagusneoplasmsMetaplasiabusiness.industryKeratin 20Keratin-7Intestinal metaplasiaCardiaCell BiologyMiddle Agedmedicine.diseasedigestive system diseasessurgical procedures operativemedicine.anatomical_structureBarrett's esophagusKeratin 7KeratinsFemalemedicine.symptombusinessPathology - Research and Practice
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De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome

2010

International audience; Interstitial deletions involving the 15q21.1 band are very rare. Only 4 of these cases have been studied using molecular cytogenetic techniques in order to confirm the deletion of the whole FBN1 gene. The presence of clinical features of the Marfan syndrome (MFS) spectrum associated with mental retardation has been described in only 2/4 patients. Here we report on a 16-year-old female referred for suspicion of MFS (positive thumb and wrist sign, scoliosis, joint hyperlaxity, high-arched palate with dental crowding, dysmorphism, mitral insufficiency with dystrophic valve, striae). She had therefore 3 minor criteria according to the Ghent nosology. She also had speech …

AdultMalemusculoskeletal diseasesProbandMarfan syndromecongenital hereditary and neonatal diseases and abnormalitiesAdolescent[SDV]Life Sciences [q-bio]Fibrillin-1BiologyFibrillinsBioinformaticsPolymerase Chain ReactionMarfan SyndromeLoss of heterozygosity03 medical and health sciencesTransforming Growth Factor betaIntellectual DisabilityGeneticsmedicineHumansMultiplex ligation-dependent probe amplificationAlleleChildGeneIn Situ Hybridization FluorescenceGenetics (clinical)Oligonucleotide Array Sequence AnalysisSequence Deletion030304 developmental biologyGeneticsChromosomes Human Pair 15Comparative Genomic Hybridization0303 health sciencesMicrofilament Proteins030305 genetics & heredityGeneral Medicinemedicine.diseasePedigree3. Good healthPhenotypeMutationMicrosatelliteFemaleDNA ProbesHaploinsufficiencyMicrosatellite RepeatsEuropean Journal of Medical Genetics
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