Search results for "taudit"

showing 10 items of 347 documents

A rare disease and education : Neurofibromatosis type 1 decreases educational attainment

2021

Rare heritable syndromes may affect educational attainment. Here, we study education in neurofibromatosis 1 (NF1) that is associated with multifaceted medical, social and cognitive consequences. Educational attainment in the Finnish population‐based cohort of 1408 individuals with verified NF1 was compared with matched controls using Cox proportional hazards model with delayed entry and competing risk for death. Moreover, models accounting for the effects of cancer at age 15–30 years, parental NF1 and developmental disorders were constructed. Overall, the attainment of secondary education was reduced in individuals with NF1 compared to controls (hazard ratio 0.83, 95%CI 0.74–0.92). History …

0301 basic medicineMale030105 genetics & heredityNeoplasmsneurofibromatosis 1ChildGenetics (clinical)FinlandLearning DisabilitiesHazard ratioCognitionVocational educationChild Preschooleducational attainmentCohortEducational StatusFemaleOriginal ArticleAdultopintomenestyscongenital hereditary and neonatal diseases and abnormalitiesNeurofibromatosis 1Adolescentrare diseaseneurofibromatoosiAffect (psychology)multiorgan syndromeschool performance03 medical and health sciencesRare DiseaseskoulutustasoGeneticsmedicineHumansEducation Graduateharvinaiset tauditNeurofibromatosisneoplasmsProportional Hazards ModelsVocational Educationperinnölliset tauditProportional hazards modelbusiness.industrySiblingsOriginal Articlesmedicine.diseaseEducational attainmenteye diseasesnervous system diseases030104 developmental biologybusinessDemographyFollow-Up Studies
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Muscle and serum metabolomes are dysregulated in colon-26 tumor-bearing mice despite amelioration of cachexia with activin receptor type 2B ligand bl…

2019

Cancer-associated cachexia reduces survival, which has been attenuated by blocking the activin receptor type 2B (ACVR2B) ligands in mice. The purpose of this study was to unravel the underlying physiology and novel cachexia biomarkers by use of the colon-26 (C26) carcinoma model of cancer cachexia. Male BALB/c mice were subcutaneously inoculated with C26 cancer cells or vehicle control. Tumor-bearing mice were treated with vehicle (C26+PBS) or soluble ACVR2B either before (C26+sACVR/b) or before and after (C26+sACVR/c) tumor formation. Skeletal muscle and serum metabolomics analysis was conducted by gas chromatography-mass spectrometry. Cancer altered various biologically functional groups …

0301 basic medicineMaleCachexiaPhysiologyEndocrinology Diabetes and MetabolismActivin Receptors Type IIlihaksetMyostatinMice0302 clinical medicineAmino Acidsta315Activin Receptor Type-2BbiologyOrganophosphatesRecombinant Proteins3. Good healthmedicine.anatomical_structureribosome030220 oncology & carcinogenesismyostatinColonic NeoplasmsMetabolomesyöpätauditC26Metabolic Networks and Pathwaysmedicine.medical_specialtyPhenylalanineCachexia03 medical and health sciencesribosomitPhysiology (medical)Internal medicineCell Line TumormedicineAnimalsskeletal muscleMuscle SkeletalPI3K/AKT/mTOR pathwaybusiness.industrySkeletal muscleCancermedicine.diseaseta3122BlockadeImmunoglobulin Fc Fragments030104 developmental biologyEndocrinologyProtein Biosynthesisbiology.proteinaineenvaihduntatuotteetPyrimidine NucleotidesproteiinitbusinesslihassurkastumasairaudetACVR2BAmerican journal of physiology. Endocrinology and metabolism
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Exome-wide somatic mutation characterization of small bowel adenocarcinoma

2018

Small bowel adenocarcinoma (SBA) is an aggressive disease with limited treatment options. Despite previous studies, its molecular genetic background has remained somewhat elusive. To comprehensively characterize the mutational landscape of this tumor type, and to identify possible targets of treatment, we conducted the first large exome sequencing study on a population-based set of SBA samples from all three small bowel segments. Archival tissue from 106 primary tumors with appropriate clinical information were available for exome sequencing from a patient series consisting of a majority of confirmed SBA cases diagnosed in Finland between the years 2003–2011. Paired-end exome sequencing was…

0301 basic medicineMaleCancer ResearchMICROSATELLITE INSTABILITYColorectal canceroncogenesReceptor ErbB-2medicine.disease_causeCOLORECTAL-CANCERACTIVATIONCohort Studies0302 clinical medicineAnimal CellsAdenocarcinomasMedicine and Health SciencesExomeFrameshift MutationExomeGenetics (clinical)Exome sequencingAged 80 and overSMALL-INTESTINEeducation.field_of_study1184 Genetics developmental biology physiologyCELIAC-DISEASENonsense MutationMiddle Aged3. Good healthsyöpägeenitOncology030220 oncology & carcinogenesissyöpätauditFemaleSIGNALING PATHWAYKRASCellular TypesResearch ArticleAdultProto-Oncogene Proteins B-raflcsh:QH426-470SEQUENCING DATAImmune CellsNonsense mutationPopulationImmunologyAntigen-Presenting CellsComputational biologysuolistosyövätBiologyAdenocarcinomata3111CarcinomasFrameshift mutation03 medical and health sciencesGermline mutationQUALITY-CONTROLGenetiikka kehitysbiologia fysiologia - Genetics developmental biology physiologySyöpätaudit - CancersIntestinal NeoplasmsmedicineGeneticsPoint MutationHumanseducationMolecular BiologyEcology Evolution Behavior and SystematicsAgedColorectal CancerBiology and Life SciencesCancers and Neoplasmscancerous diseasesCell Biologymedicine.diseaseta3122mutationsCOMPREHENSIVE MOLECULAR CHARACTERIZATIONlcsh:Genetics030104 developmental biologyMutationSomatic Mutationbowel cancer3111 BiomedicinemutaatiotHIGH-RESOLUTIONPLoS Genetics
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DNA methylation changes and somatic mutations as tumorigenic events in Lynch syndrome-associated adenomas retaining mismatch repair protein expression

2018

Background: DNA mismatch repair (MMR) defects are a major factor in colorectal tumorigenesis in Lynch syndrome (LS) and 15% of sporadic cases. Some adenomas from carriers of inherited MMR gene mutations have intact MMR protein expression implying other mechanisms accelerating tumorigenesis. We determined roles of DNA methylation changes and somatic mutations in cancer-associated genes as tumorigenic events in LS-associated colorectal adenomas with intact MMR. Methods: We investigated 122 archival colorectal specimens of normal mucosae, adenomas and carcinomas from 57 LS patients. MMR-deficient (MMR-D, n 49) and MMR-proficient (MMR-P, n 18) adenomas were of particular interest and were inter…

0301 basic medicineMaleResearch paperMICROSATELLITE INSTABILITYHYPOMETHYLATIONDNA mismatch repairPHENOTYPEmedicine.disease_causeEpigenesis Genetic0302 clinical medicineCOLORECTAL ADENOMASCDKN2APromoter Regions Geneticcolorectal adenomaDNA methylationLINE-1 methylationTumor suppressorGeneral MedicineMethylationMiddle AgedCANCERTUMORSLynch syndromeDNA-metylaatio3. Good healthDEFICIENCY030220 oncology & carcinogenesisDNA methylationsyöpätauditFemaleColorectal adenomaAdultcongenital hereditary and neonatal diseases and abnormalitiesAdenomatumor suppressorsuolistosyövätColorectal adenomaBiologycomplex mixturesGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesBRAF MUTATIONmedicineHumansLynchin oireyhtymäAgedTumor Suppressor ProteinsMicrosatellite instabilityDNAUNE-1 methylationta3122medicine.diseaseGENEColorectal Neoplasms Hereditary Nonpolyposisdigestive system diseasestumorigenesisCOPY NUMBER030104 developmental biologyLynch syndromeLong Interspersed Nucleotide Elements3121 General medicine internal medicine and other clinical medicineMutationTumorigenesisCancer research3111 BiomedicineTumotigenesismutationCarcinogenesisEBioMedicine
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The clinical relevance of adiposity when assessing muscle health in men treated with androgen deprivation for prostate cancer

2019

Background: Androgen deprivation therapy (ADT) for prostate cancer (PCa) may prospectively decrease absolute lean mass (LM) and increase absolute fat mass (FM). Given that estimates of LM by dual‐energy X‐ray absorptiometry may be overestimated in obese people, this study examined the influence of adiposity on muscle health in men treated with ADT for PCa. Methods: This cross‐sectional study examined the influence of adiposity on total and appendicular LM (ALM), muscle cross‐sectional (CSA), and muscle strength in 70 men treated with ADT [mean (standard deviation) age, 71 (6) years] for PCa compared with age‐matched PCa (n = 52) and healthy controls (n = 70). Total body LM, FM and ALM, and …

0301 basic medicineMaleSarcopenialcsh:Diseases of the musculoskeletal systemBody compositionprostatic neoplasmsBody Mass IndexAndrogen deprivation therapyProstate cancer0302 clinical medicineAbsorptiometry PhotonMedicineOrthopedics and Sports MedicineQuantitative computed tomographyAdipositymedicine.diagnostic_testeturauhassyöpäOrgan Sizelcsh:Human anatomyMiddle Agedadipose tissue030220 oncology & carcinogenesissyöpätauditOriginal ArticleProstatic neoplasmsmedicine.medical_specialtymedicine.drug_classUrologyrasvakudoksetAdipose tissuelcsh:QM1-695sarcopenia03 medical and health sciencesAtrophyPhysiology (medical)HumansMuscle SkeletalatrofiakehonkoostumusAgedbusiness.industryAndrogen AntagonistsOriginal Articlesmedicine.diseaseAndrogen030104 developmental biologyCross-Sectional StudiesSarcopeniaLean body massAtrophylcsh:RC925-935businessBody mass indexlihassurkastumasairaudetBiomarkersJournal of Cachexia, Sarcopenia and Muscle
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Stromal hyaluronan accumulation is associated with low immune response and poor prognosis in pancreatic cancer

2021

AbstractHyaluronan (HA) accumulation has been associated with poor survival in various cancers, but the mechanisms for this phenomenon are still unclear. The aim of this study was to investigate the prognostic significance of stromal HA accumulation and its association with host immune response in pancreatic ductal adenocarcinoma (PDAC). The study material consisted of 101 radically treated patients for PDAC from a single geographical area. HA staining was evaluated using a HA-specific probe, and the patterns of CD3, CD8, CD73 and PD-L1 expression were evaluated using immunohistochemistry. HA staining intensity of tumour stromal areas was assessed digitally using QuPath. CD3- and CD8-based …

0301 basic medicineMalehyaluronaanibiomarkkeritB7-H1 Antigen0302 clinical medicineProspective StudiesHyaluronic Acid5'-NucleotidasehaimasyöpäCancerAged 80 and overMultidisciplinaryQGastroenterologyRMiddle AgedPrognosisSurvival RateOncology030220 oncology & carcinogenesisimmuunivasteImmunohistochemistryMedicineFemalesyöpätauditCarcinoma Pancreatic DuctalStromal cellScienceImmunologyGPI-Linked Proteins3121 Internal medicineArticle03 medical and health sciencesImmune systemPancreatic cancerCarcinomamedicineHumansSurvival rateAgedbusiness.industryImmunityCancerennusteetmedicine.disease3126 Surgery anesthesiology intensive care radiologyPancreatic Neoplasms030104 developmental biologyCancer researchStromal CellsbusinessCD8Follow-Up Studies
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Interactions between Rainbow Trout Eyed Eggs and Flavobacterium spp. Using a Bath Challenge Model:Preliminary Evaluation of Bacteriophages as Pathoge…

2021

The microbial community surrounding fish eyed eggs can harbor pathogenic bacteria. In this study we focused on rainbow trout (Oncorhynchus mykiss) eyed eggs and the potential of bacteriophages against the pathogenic bacteria Flavobacterium psychrophilum and F. columnare. An infection bath method was first established, and the effects of singular phages on fish eggs was assessed (survival of eyed eggs, interaction of phages with eyed eggs). Subsequently, bacteria-challenged eyed eggs were exposed to phages to evaluate their effects in controlling the bacterial population. Culture-based methods were used to enumerate the number of bacteria and/or phages associated with eyed eggs and in the su…

0301 basic medicineMicrobiology (medical)bacteriophagesgenetic structuresCYTOPHAGA-PSYCHROPHILAQH301-705.5030106 microbiologyZoologyFlavobacterium psychrophilummedicine.disease_causeinfektiotMicrobiologybakteriofagitbakteeritCOLD-WATER DISEASE03 medical and health sciencesFlavobacterium columnaremätiFISHkirjolohiVirologyONCORHYNCHUS-MYKISS WALBAUMATLANTIC SALMONFlavobacterium psychrophilummedicineCOLUMNARE INFECTIONBiology (General)PathogenIncubationIN-VIVOeyed eggsbiologyPathogenic bacteria<i>Flavobacterium columnare</i>kalatauditbiology.organism_classificationrainbow troutphage-mediated control030104 developmental biologyFlavobacterium columnareembryonic structuresSURVIVALGENETIC DIVERSITYVIRULENCERainbow trout<i>Flavobacterium psychrophilum</i>FlavobacteriumBacteria
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Antiviral Agents From Fungi : Diversity, Mechanisms and Potential Applications

2018

Viral infections are amongst the most common diseases affecting people worldwide. New viruses emerge all the time and presently we have limited number of vaccines and only few antivirals to combat viral diseases. Fungi represent a vast source of bioactive molecules, which could potentially be used as antivirals in the future. Here, we have summarized the current knowledge of fungi as producers of antiviral compounds and discuss their potential applications. In particular, we have investigated how the antiviral action has been assessed and what is known about the molecular mechanisms and actual targets. Furthermore, we highlight the importance of accurate fungal species identification on ant…

0301 basic medicineMicrobiology (medical)endofyytitnatural productsBioactive moleculesmedia_common.quotation_subjectantiviral mechanismslcsh:QR1-502fungal secondary metabolitesendophytesluonnontuotteetReviewComputational biologyBiology01 natural sciencesMicrobiologylcsh:Microbiology03 medical and health sciencesantiviral agentsSpecies identificationpuolustusmekanismit (biologia)media_commonantimikrobiset yhdisteet010405 organic chemistrymedicinal mushroomsta1183ta1182luonnonaineet0104 chemical sciences030104 developmental biologyvirustauditsienetDiversity (politics)
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Prognostic Value of Immune Environment Analysis in Small Bowel Adenocarcinomas with Verified Mutational Landscape and Predisposing Conditions

2020

Background: Small bowel adenocarcinoma (SBA) is a rare yet insidious cancer with poor survival. The abundance of tumour-infiltrating lymphocytes is associated with improved survival, but the role of the programmed death-1/programmed death ligand-1 (PD-1/PD-L1) pathway in tumour escape is controversial. We evaluated immune cell infiltration, PD1/PD-L1 expression and their prognostic value in a series of SBAs with previously verified predisposing conditions and exome-wide somatic mutation characterization. Methods: Formalin-fixed paraffin-embedded tissue sections stained for CD3, CD8, PD-L1 and PD-1 were analysed from 94 SBAs. An immune cell score (ICS) was formed from the amount of the CD3 a…

0301 basic medicineOncologyPD-L1Cancer Researchmedicine.medical_specialtyadenokarsinoomabiomarkkeritsuolistosyövätlcsh:RC254-282ArticlePathogenesis03 medical and health sciencestumour infiltrating lymphocytesohjelmoitunut solukuolema0302 clinical medicineGermline mutationImmune systemPD-L1Internal medicinesmall bowelPD-1medicineStage (cooking)adenocarcinomabiologybusiness.industryCancerlcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensmedicine.disease3. Good health030104 developmental biologyOncologyimmuunijärjestelmä030220 oncology & carcinogenesisbiology.proteinAdenocarcinomaohutsuolisyöpätauditproteiinitlymfosyytitbusinessCD8
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Does breast carcinoma belong to the Lynch syndrome tumor spectrum? : Somatic mutational profiles vs. ovarian and colorectal carcinomas

2020

// Noora K. Porkka 1 , Alisa Olkinuora 1 , Teijo Kuopio 2 , 3 , Maarit Ahtiainen 4 , Samuli Eldfors 5 , Henrikki Almusa 5 , Jukka-Pekka Mecklin 6 , 7 , 8 and Paivi Peltomaki 1 1 Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland 2 Department of Pathology, Jyvaskyla Central Hospital, Jyvaskyla, Finland 3 Department of Biological and Environmental Science, University of Jyvaskyla, Jyvaskyla, Finland 4 Department of Education and Research, Jyvaskyla Central Hospital and University of Eastern Finland, Jyvaskyla, Finland 5 Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland 6 Faculty of Sport and Health Sciences, University of J…

0301 basic medicineOncologymedicine.medical_specialtyDNA mismatch repair3122 Cancersmedicine.disease_cause03 medical and health sciences0302 clinical medicineBreast cancerGermline mutationInternal medicinemedicinesomatic mutationbreast carcinomaLynchin oireyhtymäMSIperinnölliset tauditrintasyöpäbusiness.industryCancermedicine.diseaseLynch syndromedigestive system diseases3. Good health030104 developmental biologyLynch syndromeOncologysyöpägeenit030220 oncology & carcinogenesisMedical geneticsDNA mismatch repairsyöpätaudit3111 BiomedicinemutaatiotCarcinogenesisBreast carcinomabusinessResearch Paper
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