Search results for "MPT"

showing 10 items of 15064 documents

Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.

2018

International audience; Wiedemann-Steiner syndrome (WSS) is a rare syndromic condition in which intellectual disability (ID) is associated with hypertrichosis cubiti, short stature, and characteristic facies. Following the identification of the causative gene (KMT2A) in 2012, only 31 cases of WSS have been described precisely in the literature. We report on 33 French individuals with a KMT2A mutation confirmed by targeted gene sequencing, high-throughput sequencing or exome sequencing. Patients' molecular and clinical features were recorded and compared with the literature data. On the molecular level, we found 29 novel mutations. We observed autosomal dominant transmission of WSS in 3 fami…

0301 basic medicineHypertrichosisMalePediatrics[SDV]Life Sciences [q-bio]MESH: Magnetic Resonance ImagingPathognomonicMESH: ChildIntellectual disabilityMESH: SyndromeChildMESH: High-Throughput Nucleotide SequencingGenetics (clinical)Exome sequencingComputingMilieux_MISCELLANEOUSbiologyWiedemann-Steiner syndromeHigh-Throughput Nucleotide SequencingSyndromeKMT2AMESH: Amino Acid SubstitutionMagnetic Resonance Imaginghypertrichosis3. Good healthhairinessKMT2APhenotypeWiedemann-Steiner syndromeChild Preschoolcardiovascular systemFemaleDisease SusceptibilityFrancemedicine.symptomMESH: Tomography X-Ray ComputedMyeloid-Lymphoid Leukemia Proteinmedicine.medical_specialtyMESH: MutationAdolescentMESH: Disease SusceptibilityMESH: PhenotypeShort statureMESH: Intellectual Disability03 medical and health sciencesHypertrichosis cubitiIntellectual DisabilityGeneticsmedicineHumanshistone methylationMESH: Adolescent[SDV.GEN]Life Sciences [q-bio]/GeneticsMESH: Humansbusiness.industryMESH: Child PreschoolMESH: Histone-Lysine N-MethyltransferaseHistone-Lysine N-Methyltransferasemedicine.diseaseMESH: MaleMESH: France030104 developmental biology[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsAmino Acid SubstitutionMESH: Myeloid-Lymphoid Leukemia ProteinMutationbiology.proteinbusinessTomography X-Ray ComputedMESH: FemaleClinical genetics
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The role of oxidative stress in cardiovascular disease caused by social isolation and loneliness

2020

Loneliness and social isolation are common sources of chronic stress in modern society. Epidemiological studies have demonstrated that loneliness and social isolation increase mortality risk as much as smoking or alcohol consumption and more than physical inactivity or obesity. Loneliness in human is associated with higher blood pressure whereas enhanced atherosclerosis is observed in animal models of social isolation. Loneliness and social isolation lead to activation of the hypothalamic-pituitary-adrenocortical (HPA) axis, enhanced sympathetic nerve activity, impaired parasympathetic function and a proinflammatory immune response. These mechanisms have been implicated in the development o…

0301 basic medicineHypothalamo-Hypophyseal Systemmedicine.medical_specialtyClinical BiochemistryPituitary-Adrenal SystemDiseasemedicine.disease_causeBiochemistryProinflammatory cytokine03 medical and health sciences0302 clinical medicineInternal medicinemedicineAnimalsHumansChronic stressSocial isolationlcsh:QH301-705.5Social stressSocial isolationlcsh:R5-920business.industryLonelinessOrganic ChemistryLonelinessRostral ventrolateral medullaCardiovascular diseaseGraphical ReviewRatsDisease Models Animal030104 developmental biologyEndocrinologylcsh:Biology (General)Cardiovascular DiseasesOxidative stressmedicine.symptombusinesslcsh:Medicine (General)030217 neurology & neurosurgeryOxidative stressRedox Biology
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IL-33/IL-31 Axis: A Potential Inflammatory Pathway

2018

Cytokines play an important role in the regulation of the immune system (adaptive and innate). Given their importance in proinflammatory processes, cytokines have been used for understanding the pathogenesis and as biomarkers in many diseases. IL-31 and IL-33 are still considered novel cytokines. IL-31 controls signalling and regulates a huge amount of biological functions: it induces proinflammatory cytokines, regulates cell proliferation, and is involved also in tissue remodelling. On the other hand, IL-33 has been identified as an “alarmin” released from the epithelial cells and from different human tissues and organs after a damage following, that is, an inflammatory process. The aim of…

0301 basic medicineIL-33/IL-31 AxiImmunologyInflammationReview ArticleAdaptive ImmunityBiologyProinflammatory cytokinePathogenesis03 medical and health sciences0302 clinical medicineImmune systemSettore MED/43 - Medicina Legalelcsh:PathologymedicineAnimalsHumansIL-33/IL-31 Axis; Inflammatory PathwayInflammationAdaptive Immunity; Animals; Biomarkers; Humans; Inflammation; Interleukin-33; Interleukins; Immunology; Cell BiologyCell growthInterleukinsInterleukinCell BiologyInterleukin-33Acquired immune systemInflammatory PathwayInterleukin 33030104 developmental biologyImmunologymedicine.symptomBiomarkerslcsh:RB1-214030215 immunology
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Revisiting Type 2-high and Type 2-low airway inflammation in asthma: current knowledge and therapeutic implications

2017

Asthma is a complex respiratory disorder characterized by marked heterogeneity in individual patient disease triggers and response to therapy. Several asthma phenotypes have now been identified, each defined by a unique interaction between genetic and environmental factors, including inflammatory, clinical and trigger-related phenotypes. Endotypes further describe the functional or pathophysiologic mechanisms underlying the patient's disease. type 2-driven asthma is an emerging nomenclature for a common subtype of asthma and is characterized by the release of signature cytokines IL-4, IL-5 and IL-13 from cells of both the innate and adaptive immune systems. A number of well-recognized bioma…

0301 basic medicineImmunologyDiseasePeriostin03 medical and health sciencesTh2 Cells0302 clinical medicineImmune systemT-Lymphocyte SubsetsmedicineAnimalsHumansImmunology and AllergyAsthmaInflammationbusiness.industrymedicine.diseasePhenotypeAsthmaPathophysiologyrespiratory tract diseases030104 developmental biology030228 respiratory systemExhaled nitric oxideImmunologyCytokinesSputumInflammation Mediatorsmedicine.symptombusinessBiomarkersSignal TransductionClinical & Experimental Allergy
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Donor interleukin-22 and host type I interferon signaling pathway participate in intestinal graft-versus-host disease via STAT1 activation and CXCL10.

2014

Acute graft-versus-host disease (aGVHD) remains a major complication following allogeneic hematopoietic cell transplantation, limiting the success of this therapy. We previously reported that interleukin-22 (IL-22) participates to aGVHD development, but the underlying mechanisms of its contribution remain poorly understood. In this study, we analyzed the mechanism of the pathological function of IL-22 in intestinal aGVHD. Ex-vivo colon culture experiments indicated that IL-22 was able to induce Th1-like inflammation via signal transducer and activator of transcription factor-1 (STAT1) and CXCL10 induction in the presence of type I interferon (IFN). To evaluate a potential synergy between IL…

0301 basic medicineImmunologyGraft vs Host DiseaseInflammationReceptor Interferon alpha-betaInterleukin 2203 medical and health sciencesMiceInterferonimmune system diseasesBone MarrowmedicineImmunology and AllergyCXCL10AnimalsTransplantation HomologousHumansSTAT1Intestine LargeIntestinal MucosaBone Marrow TransplantationMice KnockoutMice Inbred BALB CbiologyInterleukinsTh1 CellsTissue DonorsTransplantationMice Inbred C57BLChemokine CXCL10030104 developmental biologymedicine.anatomical_structuresurgical procedures operativeSTAT1 Transcription FactorGene Expression RegulationHematologic NeoplasmsImmunologyInterferon Type Ibiology.proteinSTAT proteinBone marrowmedicine.symptomWhole-Body Irradiationmedicine.drugSignal Transduction
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TLR4 participates in the transmission of ethanol-induced neuroinflammation via astrocyte-derived extracellular vesicles

2019

Background Current evidence indicates that extracellular vesicles (EVs) participate in intercellular signaling, and in the regulation and amplification of neuroinflammation. We have previously shown that ethanol activates glial cells through Toll-like receptor 4 (TLR4) by triggering neuroinflammation. Here, we evaluate if ethanol and the TLR4 response change the release and inflammatory content of astrocyte-derived EVs, and whether these vesicles are capable of communicating with neurons by spreading neuroinflammation. Methods Cortical neurons and astrocytes in culture were used. EVs were isolated from the extracellular medium of the primary culture of the WT and TLR4-KO astrocytes treated …

0301 basic medicineImmunologyInflammationlcsh:RC346-42903 medical and health sciencesCellular and Molecular NeuroscienceMice0302 clinical medicineWestern blotNeuroinflammationGlial cellsExtracellularmedicineAnimalsProtein Interaction MapsReceptorNeuroinflammationCells Culturedlcsh:Neurology. Diseases of the nervous systemInflammationMice KnockoutNeuronsmedicine.diagnostic_testEthanolChemistryGeneral NeuroscienceResearchExtracellular vesiclesCell biologyMice Inbred C57BLToll-Like Receptor 4030104 developmental biologymedicine.anatomical_structureNeurologyAstrocytesTLR4medicine.symptom030217 neurology & neurosurgeryIntracellularAstrocyteJournal of Neuroinflammation
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Frontline Science: Mast cells regulate neutrophil homeostasis by influencing macrophage clearance activity

2019

Abstract The receptor tyrosine kinase cKit and its ligand stem cell factor are essential for mast cells (MC) development and survival. Strains with mutations affecting the Kit gene display a profound MC deficiency in all tissues and have been extensively used to investigate the role of MC in both physiologic and pathologic conditions. However, these mice present a variety of abnormalities in other immune cell populations that can affect the interpretation of MC-related responses. C57BL/6 KitW-sh are characterized by an aberrant extramedullary myelopoiesis and systemic neutrophilia. MC deficiency in KitW-sh mice can be selectively repaired by engraftment with in vitro-differentiated MC to va…

0301 basic medicineImmunologyKit (W-sh) mice; macrophages; mast cell; neutrophils; phagocytosisBone Marrow CellsCell CountStem cell factormacrophageReceptor tyrosine kinase03 medical and health sciences0302 clinical medicineImmune systemneutrophilsGranulocyte Colony-Stimulating FactormedicineAnimalsHomeostasisImmunology and AllergyMacrophageMyeloid CellsMast CellsNeutrophil homeostasisCD11b AntigenNeutrophil clearancebiologyInterleukin-17neutrophilphagocytosisCell BiologyKit (W-sh) miceNeutrophiliaHematopoiesismacrophagesCell biologyMice Inbred C57BLProto-Oncogene Proteins c-kitPhenotype030104 developmental biologybiology.proteinCytokinesInflammation Mediatorsmedicine.symptommast cellEx vivoSignal Transduction030215 immunologyJournal of Leukocyte Biology
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Regulatory T cells and vaccine effectiveness in older adults. Challenges and prospects

2021

Since the discovery of lymphocytes with immunosuppressive activity, increasing interest has arisen in their possible influence on the immune response induced by vaccines. Regulatory T cells (Tregs) are essential for maintaining peripheral tolerance, preventing autoimmune diseases, and limiting chronic inflammatory diseases. However, they also limit beneficial immune responses by suppressing anti-infectious and anti-tumor immunity. Mounting evidence suggests that Tregs are involved, at least in part, in the low effectiveness of immunization against various diseases where it has been difficult to obtain protective vaccines. Interestingly, increased activity of Tregs is associated with aging, …

0301 basic medicineImmunologychemical and pharmacologic phenomenaInflammationT-Lymphocytes RegulatoryAutoimmune DiseasesOlder populationImmunomodulation03 medical and health sciences0302 clinical medicineImmune systemImmunitymedicineAnimalsHumansImmunologic FactorsImmunology and AllergyAgedAged 80 and overInflammationPharmacologyVaccinesbusiness.industryVaccinationAge FactorsMembrane ProteinsPeripheral toleranceMiddle AgedVaccination030104 developmental biologyImmunization030220 oncology & carcinogenesisChronic DiseaseImmunologymedicine.symptomOlder peoplebusinessImmunosuppressive AgentsInternational Immunopharmacology
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Primary sjogren syndrome: Focus on innate immune cells and inflammation

2020

Primary Sjogren Syndrome (pSS) is a complex, multifactorial rheumatic disease that mainly targets salivary and lacrimal glands, inducing epithelitis. The cause behind the autoimmunity outbreak in pSS is still elusive; however, it seems related to an aberrant reaction to exogenous triggers such as viruses, combined with individual genetic pre-disposition. For a long time, autoantibodies were considered as the hallmarks of this disease; however, more recently the complex interplay between innate and adaptive immunity as well as the consequent inflammatory process have emerged as the main mechanisms of pSS pathogenesis. The present review will focus on innate cells and on the principal mechani…

0301 basic medicineImmunologyinnate lymphoid cellslcsh:MedicineIFN signatureInflammationDiseaseReviewmedicine.disease_causeAutoimmunityPathogenesis03 medical and health sciences0302 clinical medicinestomatognathic systemDrug DiscoverymedicineInnate lymphoid cellPharmacology (medical)Sjogren syndromeCytokine030203 arthritis & rheumatologyPharmacologyInflammationInnate immunityInnate immune systemSjogren syndrome.business.industryInnate lymphoid celllcsh:RAutoantibodyAcquired immune systemcytokinesstomatognathic diseases030104 developmental biologyInfectious DiseasesImmunologymedicine.symptombusiness
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Endoscopic near infrared and indocyanine green to verify the viability of the subcutaneous flap for vulvar cancer.

2019

Abstract Introduction Vulvar cancer often requires radical vulvectomy with subsequent vulvar flap. Approximately in 20–60% of cases, there are post-operative complications ranging from infection to flap necrosis that often require reoperation. Several methods have been described to verify the vitality of the flap, but these are often expensive and require specific machinery that is not generally present in a gynecological clinic. In this case report, we present a viability verification of V Y fasciocutaneous advancement flap for vulvar reconstruction by Endoscopic Near-Infrared and Indocyanine Green. Methodology The patient was a 67-year-old woman with FIGO IB ≤ 4 cm squamous cell vulvar ca…

0301 basic medicineIndocyanine Greenmedicine.medical_specialtySurgical Flaps03 medical and health scienceschemistry.chemical_compound0302 clinical medicineMedicineHumansAgedSpectroscopy Near-InfraredVulvar Neoplasmsbusiness.industryWound dehiscenceObstetrics and GynecologyInguinal lymphadenopathyVulvar cancerPlastic Surgery Proceduresmedicine.diseaseLateral marginSurgery030104 developmental biologyOncologychemistry030220 oncology & carcinogenesisRadical VulvectomyCarcinoma Squamous CellLymph Node ExcisionVulvectomyFemaleFlap necrosismedicine.symptombusinessIndocyanine greenSurgical site infectionGynecologic oncology
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