Search results for "61"

showing 10 items of 3634 documents

The genetic prehistory of the Baltic Sea region

2018

Correction: Nature communications 9 (2018), art. no. 1494 doi:10.1038/s41467-018-03872-y While the series of events that shaped the transition between foraging societies and food producers are well described for Central and Southern Europe, genetic evidence from Northern Europe surrounding the Baltic Sea is still sparse. Here, we report genome-wide DNA data from 38 ancient North Europeans ranging from similar to 9500 to 2200 years before present. Our analysis provides genetic evidence that hunter-gatherers settled Scandinavia via two routes. We reveal that the first Scandinavian farmers derive their ancestry from Anatolia 1000 years earlier than previously demonstrated. The range of Mesolit…

0301 basic medicineBaltic StatesSteppeRange (biology)Population DynamicsDIVERSITYGeneral Physics and Astronomy615 History and ArchaeologyStone Age0302 clinical medicinelcsh:ScienceHistory AncientAncient DNA ; Baltic Sea region ; Stone AgeTransients and MigrantsGENOMES SUGGESTMultidisciplinarygeography.geographical_feature_categoryFossilsCHROMOSOME HAPLOGROUP-NQ1184 Genetics developmental biology physiologyAgriculturehumanitiesADMIXTUREpopulation characteristicsgeographic locationsGene FlowEUROPESciencePastoralismScandinavian and Nordic CountriesEURASIASEQUENCEGeneral Biochemistry Genetics and Molecular BiologyWhite PeoplePrehistory03 medical and health sciencesANCIENT DNAHumans14. Life underwaterAuthor CorrectionMesolithicgeographyGenome HumanGeneral ChemistryBefore PresentArchaeologyHUNTER-GATHERERS030104 developmental biologyAncient DNAlcsh:QEARLY FARMERS030217 neurology & neurosurgeryNature Communications
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Models for preterm cortical development using non invasive clinical EEG

2017

AbstractThe objective of this study was to evaluate the piglet and the mouse as model systems for preterm cortical development. According to the clinical context, we used non invasive EEG recordings. As a prerequisite, we developed miniaturized Ag/AgCl electrodes for full band EEG recordings in mice and verified that Urethane had no effect on EEG band power. Since mice are born with a “preterm” brain, we evaluated three age groups: P0/P1, P3/P4 and P13/P14. Our aim was to identify EEG patterns in the somatosensory cortex which are distinguishable between developmental stages and represent a physiologic brain development. In mice, we were able to find clear differences between age groups wit…

0301 basic medicineBrain developmentsomatosensory cortexmouse modelContext (language use)Neurosciences. Biological psychiatry. NeuropsychiatryBiologyElectroencephalographySomatosensory system600 Technik Medizin angewandte Wissenschaften::610 Medizin und Gesundheit::616 KrankheitenInterhemispheric coherence03 medical and health sciences0302 clinical medicine616medicineCoherence (signal processing)cortical developmentmedicine.diagnostic_testGeneral Neurosciencephase amplitude couplingNon invasivetelemetrycoherence030104 developmental biologypigletfull band eegpretermNeuroscience030217 neurology & neurosurgeryPhase amplitude couplingRegular ArticlesRC321-571Translational Neuroscience
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Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrom…

2019

Background Recent epidemiological evidence shows that colorectal cancer (CRC) continues to occur in carriers of pathogenic mismatch repair (path_MMR) variants despite frequent colonoscopy surveillance in expert centres. This observation conflicts with the paradigm that removal of all visible polyps should prevent the vast majority of CRC in path_MMR carriers, provided the screening interval is sufficiently short and colonoscopic practice is optimal. Methods To inform the debate, we examined, in the Prospective Lynch Syndrome Database (PLSD), whether the time since last colonoscopy was associated with the pathological stage at which CRC was diagnosed during prospective surveillance. Path_MMR…

0301 basic medicineCOLONOSCOPIC SURVEILLANCEColorectal cancerColonoscopy030105 genetics & hereditycomputer.software_genreFAMILIESCOLORECTAL-CANCERBreast cancer screening0302 clinical medicine610 Medical sciences MedicineEpidemiologytähystysStage (cooking)Hereditary nonpolyposis colorectal cancerMUTATIONGenetics (clinical)RISKSurveillanceDatabasemedicine.diagnostic_testIncidence (epidemiology)Colonoscopylcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensLynch syndrome3. Good healthOncology030220 oncology & carcinogenesisendoskopiaScreeningsyöpätauditkoloskopiamedicine.medical_specialtylcsh:QH426-4703122 Cancers610suolistosyövätmikrosatelliititlcsh:RC254-282Mismatch repair03 medical and health sciencesCàncer colorectalmedicineEndoscòpiaLynchin oireyhtymäperinnölliset tauditseulontatutkimusbusiness.industryResearchColonoscòpiaMicrosatellite instabilityEndoscopyDNAdiagnostiikkamedicine.diseaseColorectal cancerdigestive system diseasesHereditary cancerADENOMAlcsh:GeneticsLynch syndromeOver-diagnosisMicrosatellite instabilitytarkkailubusinesscomputer
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A PDCD1 Role in the Genetic Predisposition to NAFLD-HCC?

2021

Obesity and non-alcoholic fatty liver disease (NAFLD) are contributing to the global rise in deaths from hepatocellular carcinoma (HCC). The pathogenesis of NAFLD-HCC is not well understood. The severity of hepatic steatosis, steatohepatitis and fibrosis are key pathogenic mechanisms, but animal studies suggest altered immune responses are also involved. Genetic studies have so far highlighted a major role of gene variants promoting fat deposition in the liver (PNPLA3 rs738409

0301 basic medicineCancer ResearchCirrhosisprimary liver cancer<i>PDCD1</i>610 Medicine & healthDiseaseBioinformaticslcsh:RC254-282digestive systemArticleTM6SF2metabolic syndrome03 medical and health sciences0302 clinical medicinePD-1medicineGenetic predispositionPNPLA3business.industry<i>TM6SF2</i>PDCD1Fatty livernutritional and metabolic diseaseshepatocellular carcinomasingle-nucleotide polymorphismlcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensmedicine.diseasedigestive system diseases3. Good health<i>PNPLA3</i>030104 developmental biologyOncology030211 gastroenterology & hepatologyMetabolic syndromeSteatohepatitisSteatosisbusinessgenetic predispositionTM6SF2Cancers
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Spontaneous and Radiation-Induced Chromosome Aberrations in Primary Fibroblasts of Patients With Pediatric First and Second Neoplasms

2020

Frontiers in oncology 10, 1338 (2020). doi:10.3389/fonc.2020.01338

0301 basic medicineCancer ResearchDNA repairSomatic cell610Chromosomal translocationlcsh:RC254-28203 medical and health sciences0302 clinical medicineRadiation sensitivityChromosome instabilitymedicinechildhood cancerddc:610spontaneous chromosomal instabilityOriginal Researchmedicine.diagnostic_testbusiness.industryChromosomeradiation sensitivitysecond primary malignancieslcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensPrimary Neoplasm030104 developmental biologychromosome aberrationsOncology030220 oncology & carcinogenesisCancer researchbusinessionizing radiationSecond primary malignancies ; Radiation sensitivity ; Chromosome aberrations ; Childhood cancer ; Spontaneous chromosomal instability ; Ionizing radiationFluorescence in situ hybridization
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Quantitative Imaging of D-2-Hydroxyglutarate in Selected Histological Tissue Areas by a Novel Bioluminescence Technique

2016

Abstract Patients with malignant gliomas have a poor prognosis with average survival of less than one year. Whereas in other tumor entities the characteristics of tumor metabolism are successfully used for therapeutic approaches, such developments are very rare in brain tumors, notably in gliomas. One metabolic feature characteristic of gliomas, in particular diffuse astrocytomas and oligodendroglial tumors, is the variable content of D-2-hydroxyglutarate (D2HG), a metabolite, which was discovered first in this tumor entity. D2HG is generated in large amounts due to various “gain-of–function” mutations in the isocitrate dehydrogenases IDH-1 and IDH-2. Meanwhile, D2HG has been detected in se…

0301 basic medicineCancer ResearchPathologymedicine.medical_specialtyMetabolite610 MedizinBiology03 medical and health scienceschemistry.chemical_compoundmedicineBioluminescence imagingBioluminescenceOligodendroglial TumorOriginal Researchddc:610D-2 hydroxyglutarateglioblastomaMyeloid leukemiaCancerACUTE MYELOID-LEUKEMIA; ISOCITRATE DEHYDROGENASE 1; IDH2 MUTATIONS; CHROMATOGRAPHY/MASS SPECTROMETRY; MAGNETIC-RESONANCE; 2-HYDROXYGLUTARATE; CANCER; GLIOMAS; L-2-HYDROXYGLUTARATE; METABOLITES; D-2 hydroxyglutarate; IDH mutations; bioluminescence imaging; oncometabolite; glioblastomabioluminescence imagingIDH mutationsmedicine.diseaseoncometaboliteLymphoma030104 developmental biologychemistryOncologyChondrosarcoma
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Thymic Hyperplasia with Lymphoepithelial Sialadenitis (LESA)-Like Features: Strong Association with Lymphomas and Non-Myasthenic Autoimmune Diseases.

2021

Thymic hyperplasia (TH) with lymphoepithelial sialadenitis (LESA)-like features (LESA-like TH) has been described as a tumor-like, benign proliferation of thymic epithelial cells and lymphoid follicles. We aimed to determine the frequency of lymphoma and autoimmunity in LESA-like TH and performed retrospective analysis of cases with LESA-like TH and/or thymic MALT-lymphoma. Among 36 patients (21 males) with LESA-like TH (age 52 years, 32&ndash

0301 basic medicineCancer ResearchPathologymedicine.medical_specialtyPure red cell aplasia610 Medicine & healthautoimmune diseaselymphomathymitismedicine.disease_causelcsh:RC254-282SclerodermaArticleAutoimmunitysurgery03 medical and health sciences0302 clinical medicinethymusimmune system diseaseshemic and lymphatic diseasesmedicineddc:610Autoimmune diseasebusiness.industryLESAimagingHyperplasialcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensmedicine.diseaseLESA; autoimmune disease; imaging; lymphoma; myasthenia; pathology; surgery; thymic epithelial tumor; thymitis; thymusSialadenitisMyasthenia gravis3. Good healthLymphomamyasthenia030104 developmental biologyOncologythymic epithelial tumor030220 oncology & carcinogenesis570 Life sciences; biologypathologybusiness
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Aberrant splicing of the tumor suppressor CYLD promotes the development of chronic lymphocytic leukemia via sustained NF-κB signaling

2017

The pathogenesis of chronic lymphocytic leukemia (CLL) has been linked to constitutive NF-κB activation but the underlying mechanisms are poorly understood. Here we show that alternative splicing of the negative regulator of NF-κB and tumor suppressor gene CYLD regulates the pool of CD5+ B cells through sustained canonical NF-κB signaling. Reinforced canonical NF-κB activity leads to the development of B1 cell-associated tumor formation in aging mice by promoting survival and proliferation of CD5+ B cells, highly reminiscent of human B-CLL. We show that a substantial number of CLL patient samples express sCYLD, strongly implicating a role for it in human B-CLL. We propose that our new CLL-l…

0301 basic medicineCancer ResearchTumor suppressor geneCell SurvivalRNA SplicingChronic lymphocytic leukemia2720 Hematology610 Medicine & healthBiologyCD5 Antigenslaw.inventionPathogenesisMice03 medical and health sciencesimmune system diseaseslawhemic and lymphatic diseasesmedicineAnimalsHumans10239 Institute of Laboratory Animal Science1306 Cancer ResearchGenes Tumor SuppressorGeneCell ProliferationB-LymphocytesAlternative splicingNF-kappa BUbiquitinationHematologymedicine.diseaseLeukemia Lymphocytic Chronic B-CellDeubiquitinating Enzyme CYLDLeukemia030104 developmental biologyOncologyImmunologyCancer research570 Life sciences; biologySuppressor2730 OncologyCD5Signal TransductionLeukemia
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Characteristics and Clinical Outcome of Breast Cancer Patients with Asymptomatic Brain Metastases

2020

Background: Brain metastases (BM) have become a major challenge in patients with metastatic breast cancer. Methods: The aim of this analysis was to characterize patients with asymptomatic BM (n = 580) in the overall cohort of 2589 patients with BM from our Brain Metastases in Breast Cancer Network Germany (BMBC) registry. Results: Compared to symptomatic patients, asymptomatic patients were slightly younger at diagnosis (median age: 55.5 vs. 57.0 years, p = 0.01), had a better performance status at diagnosis (Karnofsky index 80&ndash

0301 basic medicineCancer Researchmedicine.medical_specialtyNeoplasm metastasisMetastasePrognoseContext (language use)lcsh:RC254-282AsymptomaticGastroenterologyArticle03 medical and health sciencesbreast cancer0302 clinical medicineBreast cancerbrain metastasesInternal medicineBrustkrebsasymptomaticMedicineClinical significanceddc:610Treatment outcomeHirnmetastasePerformance statusbusiness.industrylcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensmedicine.diseaseMetastatic breast cancer030104 developmental biologyRisk factorsOncologyLead time bias030220 oncology & carcinogenesisCohortBreast neoplasmsmedicine.symptombusinessDDC 610 / Medicine &amp; healthCancers
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VESTIGE: Adjuvant Immunotherapy in Patients With Resected Esophageal, Gastroesophageal Junction and Gastric Cancer Following Preoperative Chemotherap…

2020

Background: Perioperative chemotherapy plus surgery is one recommended standard treatment for patients with resectable gastric and esophageal cancer. Even with a multimodality treatment more than half of patients will relapse following surgical resection. Patients who have a poor response to neoadjuvant chemotherapy and have an incomplete (R1) resection or have metastatic lymph nodes in the resection specimen (N+) are especially at risk of recurrence. Current clinical practice is to continue with the same chemotherapy in the adjuvant setting as before surgery. In the phase II randomized EORTC VESTIGE trial (NCT03443856), patients with high risk resected gastric or esophageal adenocarcinoma …

0301 basic medicineCancer Researchmedicine.medical_specialtyPhases of clinical researchIpilimumabchemotherapylcsh:RC254-282gastroesophageal cancer03 medical and health sciences0302 clinical medicineadjuvantClinical endpointMedicineddc:610ipilimumabperioperativenivolumabbusiness.industrygastric cancerStandard treatmentgastric cancer gastroesophageal cancer immunotherapy chemotherapy adjuvant nivolumab ipilimumab perioperativePerioperativeEsophageal cancerlcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensmedicine.diseaseClinical TrialSurgeryClinical trial030104 developmental biologyOncology030220 oncology & carcinogenesisimmunotherapyNivolumabbusinessadjuvant; chemotherapy; gastric cancer; gastroesophageal cancer; immunotherapy; ipilimumab; nivolumab; perioperativemedicine.drug
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