Search results for "Roth"

showing 10 items of 806 documents

Mutation screening for the prothrombin variant G20210A by melting point analysis with the Light Cycler system: atypical results, detection of the var…

2005

In the differential diagnosis of thrombophilic disorders genotyping of prothrombin and factor V are nowadays performed as a routine analysis. In the following we describe the unusual results of the mutation screening using melting point analysis for two patients and the consecutive detection of the mutation C20209T by sequencing the corresponding gene fragments. The molecular result is discussed with special respect to the medical history, ethnic background and clinical findings of both patients.

AdultMaleHot TemperatureDNA Mutational AnalysisClinical BiochemistryBiologyNucleic Acid DenaturationThrombophiliaPolymerase Chain Reactionlaw.inventionlawmedicineHumansPoint MutationThrombophiliaMedical historyGenotypingPolymerase chain reactionGeneticsPoint mutationBiochemistry (medical)Factor VSequence Analysis DNAHematologyGeneral Medicinemedicine.diseaseMutation (genetic algorithm)biology.proteinFemaleProthrombinDifferential diagnosisClinical and Laboratory Haematology
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Human isometric force production and electromyogram activity of knee extensor muscles in water and on dry land.

1999

This study was designed to determine trial-to-trial and day-to-day reproducibility of isometric force and electromyogram activity (EMG) of the knee extensor muscles in water and on dry land as well as to make comparisons between the two training conditions in muscle activity and force production. A group of 20 healthy subjects (12 women and 8 men) were tested three times over 2 weeks. A measurement session consisted of recordings of maximal and submaximal isometric knee extension force with simultaneous recording of surface EMG from the vastus medialis, vastus lateralis and biceps femoris muscles. To ensure identical measurement conditions the same patient elevator chair was used in both th…

AdultMaleKnee JointPhysiologyVastus medialisIntraclass correlationIsometric exerciseElectromyographyBicepsIsometric ContractionMedicineHumansMuscle SkeletalHydrotherapyReproducibilityKnee extensorsmedicine.diagnostic_testbusiness.industryElectromyographyPublic Health Environmental and Occupational HealthReproducibility of ResultsWaterAnatomyElectrophysiologyFemalebusinessBiomedical engineeringEuropean journal of applied physiology and occupational physiology
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Warm underwater water-jet massage improves recovery from intense physical exercise

1995

The effects of warm underwater water-jet massage on neuromuscular functioning, selected biochemical parameters (serum creatine kinase, lactic dehydrogenase, serum carbonic anhydrase, myoglobin, urine urea and creatinine) and muscle soreness were studied among 14 junior track and field athletes. Each subject spent, in a randomized order, two identical training weeks engaged in five strength/power training sessions lasting 3 days. The training weeks differed from each other only in respect of underwater water-jet massage treatments. These were used three times (20 min each) during the treatment week and not used during the control week. During the treatment week continuous jumping power decre…

AdultMaleMuscle tissuemedicine.medical_specialtyHot TemperatureAdolescentPhysiologymedicine.medical_treatmentPhysical exercisemedicine.disease_causechemistry.chemical_compoundJumpingPhysiology (medical)medicineHumansUreaOrthopedics and Sports MedicineMuscle SkeletalHydrotherapyCreatine KinaseExerciseCarbonic AnhydrasesHydrotherapyMassageCreatinineMassageL-Lactate DehydrogenaseMyoglobinbusiness.industryPublic Health Environmental and Occupational HealthSkeletal muscleGeneral MedicineKineticsmedicine.anatomical_structurechemistryMyoglobinCreatinineAnesthesiaPhysical therapyFemalebusinessSportsEuropean Journal of Applied Physiology and Occupational Physiology
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Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis

2013

Congenital poikiloderma is characterized by a combination of mottled pigmentation, telangiectasia, and epidermal atrophy in the first few months of life. We have previously described a South African European-descent family affected by a rare autosomal-dominant form of hereditary fibrosing poikiloderma accompanied by tendon contracture, myopathy, and pulmonary fibrosis. Here, we report the identification of causative mutations in FAM111B by whole-exome sequencing. In total, three FAM111B missense mutations were identified in five kindreds of different ethnic backgrounds. The mutation segregated with the disease in one large pedigree, and mutations were de novo in two other pedigrees. All thr…

AdultMalePathologymedicine.medical_specialtyContractureAdolescentPulmonary FibrosisPoikilodermaCell Cycle Proteinsmedicine.disease_causeTendonssymbols.namesakeYoung AdultMuscular DiseasesReportPulmonary fibrosismedicineGeneticsMissense mutationHumansGenetics(clinical)MyopathyChildRothmund–Thomson syndromeGenetics (clinical)Sanger sequencingMutationbusiness.industryInfant NewbornRothmund-Thomson SyndromeInfantmedicine.diseasePedigreePhenotypeChild PreschoolMutationsymbolsFemalemedicine.symptomContracturebusiness
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Meningioma-like Tumor of the Skin Revisited: A Distinct CD34+ Dermal Tumor With an Expanded Histologic Spectrum.

2019

The term meningioma-like tumor of the skin (MLTS) was coined in 1993 to designate a particular whorled spindle cell superficial cutaneous tumor. No additional confirmed cases of this entity have been reported to date. Some authors have speculated that these cases might be cellular neurothekeomas. In order to delineate the histologic spectrum and the immunophenotype of this unusual tumor, we studied 5 cases, 2 previously unreported and the 3 original cases. The immunohistochemical findings of case 5, however, were limited to those from the original study. Clinically, the tumor presented as a reddish papule, plaque, or nodule, located in the extremities or trunk. The patient often referred to…

AdultMalePathologymedicine.medical_specialtySkin NeoplasmsPopulationCD34Antigens CD34BiologyPathology and Forensic MedicineMeningiomaLesionDiagnosis Differential030207 dermatology & venereal diseases03 medical and health sciences0302 clinical medicineImmunophenotypingmedicineBiomarkers TumorHumanseducationAgededucation.field_of_studyPapuleMiddle Agedmedicine.diseaseImmunohistochemistryNeoplasms Complex and Mixed030220 oncology & carcinogenesisSurgeryFemaleAnatomymedicine.symptomImmunostainingNeurothekeomaFollow-Up StudiesThe American journal of surgical pathology
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Behavior of Epithelial Differentiation Antigens (Carcinoembryonic Antigen, Epithelial Membrane Antigen, Keratin and Cytokeratin) in Transitional Cell…

1992

Results of an immunohistochemical study in normal urothelium and transitional cell carcinomas of the bladder are presented. Paraffin-embedded material was confronted with immunoantisera against carcinoembryonic antigen (CEA), keratin (K), cytokeratin (CK) and epithelial membrane antigen (EMA). Immunohistochemical findings confirm the changes in reactivity of dysplastic urothelium and carcinoma in situ for CEA, CK and EMA, in comparison with normal urothelium. Statistically significant differences were also found, depending upon tumor stage, in staining of transitional cell carcinomas for K and CK. Expression of CK correlated with the tumor differentiation grade: normal urothelium and well-d…

AdultMalePathologymedicine.medical_specialtyUrologyurologic and male genital diseasesEpitheliumCytokeratinCarcinoembryonic antigenAntigenAntigens NeoplasmKeratinBiomarkers TumormedicineHumansUrotheliumAgedNeoplasm Stagingchemistry.chemical_classificationCarcinoma Transitional CellMembrane GlycoproteinsbiologyMucin-1Middle Agedmedicine.diseaseAntigens Differentiationfemale genital diseases and pregnancy complicationsCarcinoembryonic AntigenTransitional cell carcinomaUrinary Bladder Neoplasmschemistrybiology.proteinKeratinsImmunohistochemistryFemaleCarcinoma in SituImmunostainingUrologia Internationalis
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Endoscopic sclerotherapy for hemostasis of acute esophageal variceal bleeding.

2014

Introduction. Currently the most widely used methods for endoscopic control of esophageal varices bleeding are sclerotherapy and rubber band ligation. Although the superiority of band ligation (BL) over endoscopic sclerotherapy (SCL) for the secondary prophylaxis of variceal hemorrhage has been proven, the best approach for acute bleeding remains controversial. Patients and methods. We performed a retrospective study between January 2005 and May 2013. We selected 104 patients with gastrointestinal hemorrhage from rupture of esophageal varices treated with endoscopic sclerotherapy. The sclerosing agent used was 1% polidocanol in 89 cases, butyl-cyanoacrylate in 8 cases and sodium tetradecyls…

AdultMalePolidocanolReproducibility of ResultsEnbucrilateMiddle Agedendoscopic sclerotherapyEsophageal and Gastric VaricesSclerosing SolutionsPolyethylene GlycolsSodium Tetradecyl SulfateTreatment OutcomeRecurrenceSclerotherapyHumansFemaleOriginal ArticleEsophagoscopyGastrointestinal Hemorrhageesophageal variceal bleedingLigationAgedRetrospective Studies
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Myocardial infarction marker levels are influenced by prothrombin and tumor necrosis factor-α gene polymorphisms in young patients.

2012

Polymorphisms of genes encoding key factors for the control and activation of inflammatory response and coagulation cascade regulation may play a role in genetic susceptibility to acute myocardial infarction (AMI). This study sought to analyze the effect of TNF - 308G/A and pro-thrombin (FII) 20210G/A polymorphisms on the laboratory parameters of young patients affected by AMI. Results indicated that TNF - 308A positive genotype frequencies were increased in these patients and that a genetically determined higher production of TNF-alpha is associated in young subjects to a more severe cardiac damage as depicted by higher levels of troponin, Creatine kinase-MB Isoenzyme (mCK-MB) and a signif…

AdultMalePro-thrombinGenotypeImmunologyMyocardial InfarctionSNPSingle-nucleotide polymorphismAcute myocardial infarctionPolymorphism Single NucleotideBiochemistryYoung AdultGene FrequencyGenotypeTroponin IGenetic predispositionCreatine Kinase MB FormHumansImmunology and AllergyMedicineGenetic Predisposition to DiseaseMolecular BiologyAllele frequencyInflammationbiologyTumor Necrosis Factor-alphabusiness.industryAge FactorsFibrinogenHematologyMiddle AgedTroponinTumor necrosis factor-a.TroponinGenotype frequencyImmunologyHaematochemical parameterbiology.proteinProthrombinCreatine kinasebusinessBiomarkers
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Local administration of antisense phosphorothioate oligonucleotides to the p65 subunit of NF-kappa B abrogates established experimental colitis in mi…

1996

Chronic intestinal inflammation induced by 2,4,6,-trinitrobenzene sulfonic acid (TNBS) is characterized by a transmural granulomatous colitis that mimics some characteristics of human Crohn's disease. Here, we show that the transcription factor NF-kappa B p65 was strongly activated in TNBS-induced colitis and in colitis of interleukin-10-deficient mice. Local administration of p65 antisense phosphorothioate oligonucleotides abrogated clinical and histological signs of colitis and was more effective in treating TNBS-induced colitis than single or daily administration of glucocorticoids. The data provide direct evidence for the central importance of p65 in chronic intestinal inflammation and …

AdultMaleProtein subunitMolecular Sequence DataGeneral Biochemistry Genetics and Molecular BiologyMiceCrohn DiseaseAdrenal Cortex HormonesmedicineAnimalsHumansColitisTranscription factorCells CulturedAgedEnterocolitisPhosphorothioate OligonucleotidesBase Sequencebusiness.industryOligonucleotideEnterocolitisNF-kappa BTranscription Factor RelAGeneral MedicineDNAMiddle AgedOligonucleotides Antisensemedicine.diseaseNFKB1digestive system diseasesInterleukin-10Interleukin 10Disease Models AnimalTrinitrobenzenesulfonic AcidImmunologyCancer researchCytokinesFemalemedicine.symptombusinessNature medicine
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Effects of Water Immersion Methods on Postexercise Recovery of Physical and Mental Performance.

2019

Ahokas, EK, Ihalainen, JK, Kyrolainen, H, and Mero, AA. Effects of water immersion methods on postexercise recovery of physical and mental performance. J Strength Cond Res 33(6): 1488-1495, 2019-The aim of this study was to compare the effectiveness of 3 water immersion interventions performed after active recovery compared with active recovery only on physical and mental performance measures and physiological responses. The subjects were physically active men (age 20-35 years, mean ± SD 26 ± 3.7 years). All subjects performed a short-term exercise protocol, including maximal jumps and sprinting. Four different recovery methods (10 minutes) were used in random order: cold water immersion (C…

AdultMaleRelaxationTime FactorsHydrocortisonePhysical Therapy Sports Therapy and Rehabilitation030204 cardiovascular system & hematologyAthletic PerformanceRunningRandom order03 medical and health sciencesRandom AllocationYoung Adult0302 clinical medicineCatecholaminesHeart RateSurveys and QuestionnairesHeart rateImmersionMedicineHumansOrthopedics and Sports MedicineTestosteroneLactic AcidExercise physiologyCreatine KinaseExerciseHydrotherapybiologyRelaxation (psychology)business.industryWater030229 sport sciencesGeneral MedicineMyalgiaRecovery of FunctionRunning timeBicyclingCold TemperatureSprintWater immersionAnesthesiabiology.proteinExercise TestCreatine kinasePerceptionbusinessJournal of strength and conditioning research
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