Search results for "Hereditary"

showing 10 items of 650 documents

International consensus on the diagnosis and management of pediatric patients with hereditary angioedema with C1 inhibitor deficiency

2016

BACKGROUND: The consensus documents published to date on hereditary angioedema with C1 inhibitor deficiency (C1-INH-HAE) have focused on adult patients. Many of the previous recommendations have not been adapted to pediatric patients. We intended to produce consensus recommendations for the diagnosis and management of pediatric patients with C1-INH-HAE.METHODS: During an expert panel meeting that took place during the 9th C1 Inhibitor Deficiency Workshop in Budapest, 2015 (www.haenet.hu), pediatric data were presented and discussed and a consensus was developed by voting.RESULTS: The symptoms of C1-INH-HAE often present in childhood. Differential diagnosis can be difficult as abdominal pain…

MaleAbdominal painPediatricsdiagnosisComorbidityDiseaseSeverity of Illness IndexEcallantide0302 clinical medicineRisk FactorsDiagnosisImmunology and Allergyheterocyclic compounds030212 general & internal medicineHereditary angioedemaPediatricHereditary Angioedema Types I and IIAge FactorsDisease ManagementCombined Modality TherapyImmunodeficienciesManagementHereditary angioedemaFemaleOriginal ArticleSymptom Assessmentmedicine.symptommanagementAlgorithmsmedicine.drugmedicine.medical_specialtyC1 inhibitor deficiencyImmunology03 medical and health sciencesMeta-Analysis as TopicmedicineHumansMucous MembraneAdult patientsbusiness.industryOriginal ArticlesC1 inhibitor deficiency; Diagnosis; Hereditary angioedema; Management; Pediatric; Immunology and Allergy; Immunologybacterial infections and mycosesmedicine.diseasehereditary angioedemarespiratory tract diseasesClinical trialpediatric030228 respiratory systemC1 inhibitor deficiencyDifferential diagnosisbusinessBiomarkers
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The international WAO/EAACI guideline for the management of hereditary angioedema – the 2017 revision and update

2018

Hereditary Angioedema (HAE) is a rare and disabling disease. Early diagnosis and appropriate therapy are essential. This update and revision of the global guideline for HAE provides up-to-date consensus recommendations for the management of HAE. In the development of this update and revision of the guideline, an international expert panel reviewed the existing evidence and developed 20 recommendations that were discussed, finalized and consented during the guideline consensus conference in June 2016 in Vienna. The final version of this update and revision of the guideline incorporates the contributions of a board of expert reviewers and the endorsing societies. The goal of this guideline up…

MaleAftercare32 Biomedical and Clinical SciencesLanadelumabC1-inhibitorDiseaseGuidelineRecommendations0302 clinical medicinePregnancyDiagnosisImmunology and Allergy030212 general & internal medicinePrecision MedicineChildHereditary angioedemaConsensus conferenceSelf-administrationManagementGRADEHereditary angioedemaFemaleComplement C1 Inhibitor ProteinQuality of lifeAdultPulmonary and Respiratory Medicinemedicine.medical_specialtyWhat treatmentConsensusAdolescentHealth Planning GuidelinesImmunologyMEDLINEDysfunctional family7.3 Management and decision makingYoung Adult03 medical and health sciencesRare DiseasesQuality of life (healthcare)Clinical ResearchTerminology as TopicIndividualized therapymedicineHumansLactationFinal versionProphylaxisbusiness.industryPreventionAngioedemas HereditaryGuidelinePrecision medicinemedicine.disease3211 Oncology and Carcinogenesis030228 respiratory systemFamily medicineTherapybusiness7 Management of diseases and conditions
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Differential expression of PGC-1α and metabolic sensors suggest age-dependent induction of mitochondrial biogenesis in Friedreich ataxia fibroblasts.

2011

11 pages, 6 figures. PMID:21687738[PubMed] PMCID: PMC3110204

MaleAgingMitochondrial DiseasesMitochondrial MyopathyUbiquinoneCardiomyopathylcsh:MedicineMitochondrionAMP-Activated Protein Kinasesp38 Mitogen-Activated Protein KinasesAntioxidantsAdenosine TriphosphateAMP-activated protein kinaseTrinucleotide RepeatsFibrosisMolecular Cell BiologyChildlcsh:ScienceHeat-Shock ProteinsRegulation of gene expressionMultidisciplinaryMovement DisordersbiologyNeuromuscular DiseasesMiddle AgedCatalasePeroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alphaCell biologyMitochondriaDNA-Binding ProteinsNeurologyDisease ProgressionMedicineFemalemedicine.symptomSignal TransductionResearch ArticleAdultcongenital hereditary and neonatal diseases and abnormalitiesAtaxiaAdolescentMitochondrial ProteinsmedicineGeneticsHumansBiologyAllelesGlutathione PeroxidaseSuperoxide Dismutaselcsh:RHuman GeneticsFibroblastsmedicine.diseaseMolecular biologyOxidative StressMitochondrial biogenesisGene Expression RegulationFriedreich Ataxiabiology.proteinFrataxinlcsh:QEnergy MetabolismReactive Oxygen SpeciesTranscription FactorsPLoS ONE
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Hereditary Angioedema with Normal C1 Inhibitor Activity Including Hereditary Angioedema with Coagulation Factor XII Gene Mutations

2006

Recurrent angioedema of the skin is a commonly diagnosed clinical symptom that can be found in various clinical entities [1,2]. Some types of angioedema of the skin are associated with episodes of upper airway obstruction that may be life threatening. Death by asphyxiation from laryngeal edema is well known in hereditary angioedema (HAE) due to C1 inhibitor deficiency [3,4] and in recurrent angioedema induced by angiotensinconverting enzyme (ACE) inhibitors [5–9]. Therefore, it is important to determine the exact type of angioedema in each patient. In many patients angioedema is associated with urticaria. If relapsing urticaria occurs simultaneously or alternately with angioedema, both cond…

MaleAllergymedicine.medical_specialtyImmunologyGene mutationLaryngeal EdemaC1-inhibitorimmune system diseasesHumansImmunology and AllergyMedicinecardiovascular diseasesAngioedemaskin and connective tissue diseasesAspirinAngioedemabiologybusiness.industryfood and beveragesmedicine.diseaseDermatologyPedigreeFactor XIIMutationImmunologyHereditary angioedemaSerum sicknessbiology.proteinFemalemedicine.symptombusinessComplement C1 Inhibitor Proteinmedicine.drugImmunology and Allergy Clinics of North America
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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

2018

© 2018 Elsevier Inc.

MaleAls geneGenome-wide association studyFAMILIAL ALSALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS0302 clinical medicine80 and overPsychologyGWASKIF5AAetiologycargoAged 80 and over0303 health sciencesFrench ALS ConsortiumKinesinKINESIN HEAVY-CHAINCognitive Sciencesaxonal transportHumanHereditary spastic paraplegiaNeuroscience(all)Single-nucleotide polymorphismTARGETED DISRUPTIONArticle03 medical and health sciencesGeneticsHumansAmino Acid SequenceLoss functionAgedHEXANUCLEOTIDE REPEATNeuroscience (all)MUTATIONSAmyotrophic Lateral Sclerosis3112 Neurosciences1702 Cognitive Sciencemedicine.diseaseITALSGEN ConsortiumAnswer ALS Foundation030104 developmental biologyALS Sequencing ConsortiumHuman medicine1109 Neurosciences030217 neurology & neurosurgery0301 basic medicineALS; GWAS; KIF5A; WES; WGS; axonal transport; cargo[SDV]Life Sciences [q-bio]KinesinsNeurodegenerativeGenetic analysisGenomeAMYOTROPHIC-LATERAL-SCLEROSIS3124 Neurology and psychiatryCohort StudiesPathogenesisLoss of Function MutationMissense mutation2.1 Biological and endogenous factorsAmyotrophic lateral sclerosisNYGC ALS ConsortiumGeneticsGeneral NeuroscienceALS axonal transport cargo GWAS KIF5A WES WGSMiddle AgedPhenotypeSettore MED/26 - NEUROLOGIANeurologicalProject MinE ALS Sequencing ConsortiumKinesinWESFemaleAdultBiologyGENOTYPE IMPUTATIONALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS; Adult; Aged; Aged 80 and over; Amino Acid Sequence; Amyotrophic Lateral Sclerosis; Cohort Studies; Female; Genome-Wide Association Study; Humans; Kinesin; Loss of Function Mutation; Male; Middle Aged; Young AdultNOYoung AdultRare DiseasesmedicineSLAGEN ConsortiumGene030304 developmental biologyClinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) ConsortiumNeurology & NeurosurgeryHuman GenomeNeurosciencesAXONAL-TRANSPORTBrain DisordersALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS;Family memberDNA-DAMAGEMOTOR-NEURONS3111 BiomedicineCohort StudieALSGenomic Translation for ALS Care (GTAC) ConsortiumWGSAmyotrophic Lateral SclerosiGenome-Wide Association StudyALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS; Neuroscience (all)
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Immunological investigations in two brothers with ataxia telangiectasia Louis-Bar

1976

Two of three brothers with the classical signs of ataxia telangiectasia were investigated for their immunological disorders at the ages of 13 and 16 years, respectively. The elder brother also suffers from autoimmune hemolytic anemia, a complication which has not yet been described in the course of ataxia telangiectasia. Immunological investigations made in both brothers showed a reduction in the number and function of T lymphocytes. The number of B lymphocytes was normal, among which there were cells staining for IgA, although serum IgA was absent. It seems possible that this phenomenon is caused by a disturbance in the process of maturation of lymphoid cells with a lack of differentiation…

MaleB-Lymphocytescongenital hereditary and neonatal diseases and abnormalitiesAdolescentbusiness.industryT-LymphocytesPlasma CellsGeneral MedicineSerum igamedicine.diseaseImmunoglobulin AAtaxia TelangiectasiaIMMUNE DEFICIENCY DISEASEPediatrics Perinatology and Child HealthImmunologyAtaxia-telangiectasiamedicineHumansRadiology Nuclear Medicine and imagingAnemia Hemolytic AutoimmuneAutoimmune hemolytic anemiaComplicationbusinessEuropean Journal of Pediatrics
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4843delC of the BRCA1 gene is a possible founder mutation in Southern Italy (Sicily).

2007

Various studies have been published in Italy regarding the different BRCA1 mutations, but only the BRCA1-5083del19 mutation is recurrent and specific to individuals of Italian descent with a founder effect on the Calabrian population. In our previous study, BRCA1-5083del19 mutation carriers were found in four index cases of 106 Sicilian patients selected for familial and/or hereditary breast/ovarian cancers. The high frequency rate of this mutation identified in the Sicilian population led us to perform haplotype analysis in all family carriers. Five highly polymorphic microsatellite markers were used (D17S1320, D17S932, D17S1323, D17S1326, D17S1325) to establish whether or not all these fa…

MaleBRCA1 gene Founder mutation Haplotype analysis Hereditary breast and ovarian cancer Sicilian patientsSettore MED/06 - Oncologia MedicaGenetic counselingPopulationDNA Mutational AnalysisGenes BRCA1Single-nucleotide polymorphismBreast NeoplasmsBiologyBRCA1 geneHaplotype analysiHumansAlleleeducationAllelotypeFounder mutationSicilyGeneticsOvarian Neoplasmseducation.field_of_studyHaplotypeHematologylanguage.human_languageFounder EffectPedigreeOncologyHaplotypesHaplotype frequencylanguageFemaleSicilianGene DeletionFounder effectGenetic counselingMicrosatellite Repeats
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The Different Immune Profiles of Normal Colonic Mucosa in Cancer-Free Lynch Syndrome Carriers and Lynch Syndrome Colorectal Cancer Patients.

2021

ABSTRACT Background and aims Due to the high load of immunogenic frameshift neoantigens, tumors arising in individuals with Lynch syndrome (LS), the most common inherited colorectal cancer (CRC) syndrome, are characterized by a pronounced immune infiltration. However, the immune status of normal colorectal mucosa in LS is not well characterized. We assessed the immune infiltrate in tumor-distant normal colorectal mucosa from LS CRC patients, sporadic microsatellite-unstable (MSI) and microsatellite-stable (MSS) CRC patients, and cancer-free LS carriers. Methods CD3-positive, FOXP3-positive and CD8-positive T cells were quantified in 219, 233 and 201 formalin-fixed paraffin-embedded (FFPE) n…

MaleCD3 ComplexColorectal cancerT-LymphocytesCD8-Positive T-LymphocytesT-Lymphocytes Regulatory0302 clinical medicineIntestinal MucosaMismatch Repair Endonuclease PMS2Aged 80 and over0303 health sciencesbiologyGastroenterologyFOXP3Forkhead Transcription FactorsMiddle AgedLynch syndrome3. Good healthDNA-Binding Proteinsmedicine.anatomical_structureMutS Homolog 2 Protein030220 oncology & carcinogenesisFemaleMicrosatellite InstabilityMutL Protein Homolog 1AdultHeterozygoteColonT cellCD303 medical and health sciencesYoung AdultImmune systemmedicineHumansLymphocyte Count030304 developmental biologyAgedHepatologybusiness.industryCarcinomaRectumCancerMicrosatellite instabilitymedicine.diseaseColorectal Neoplasms Hereditary NonpolyposisCancer researchbiology.proteinbusinessTranscriptomeGastroenterology
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Somatic mutation profiles as molecular classifiers of ulcerative colitis-associated colorectal cancer.

2021

Ulcerative colitis increases colorectal cancer risk by mechanisms that remain incompletely understood. We approached this question by determining the genetic and epigenetic profiles of colitis-associated colorectal carcinomas (CA-CRC). The findings were compared to Lynch syndrome (LS), a different form of cancer predisposition that shares the importance of immunological factors in tumorigenesis. CA-CRCs (n=27) were investigated for microsatellite instability, CpG island methylator phenotype, and somatic mutations of 999 cancer-relevant genes ("Pan-cancer" panel). A subpanel of "Pan-cancer" design (578 genes) was used for LS colorectal tumors (n=28). Mutational loads and signatures stratifie…

MaleCancer ResearchColorectal cancermedicine.disease_cause0302 clinical medicinesomatic mutationPromoter Regions Genetictulehdukselliset suolistosairaudetMiddle AgedLynch syndrome3. Good healthOncology030220 oncology & carcinogenesissyöpätauditDNA mismatch repairFemaleMicrosatellite InstabilityMutL Protein Homolog 1Adult3122 Cancerscolorectal cancersuolistosyövätBiologymikrosatelliititMLH103 medical and health sciencesGermline mutationmedicineHumansLynchin oireyhtymäulcerative colitisDNA-analyysiCpG Island Methylator PhenotypeMicrosatellite instabilitySequence Analysis DNADNA Methylationmedicine.diseaseColorectal Neoplasms Hereditary NonpolyposisLynch syndromeUlcerative colitisMutationCancer researchmicrosatellite instabilityColitis UlcerativeCpG IslandsmutaatiotColitis-Associated NeoplasmsTumor Suppressor Protein p53CarcinogenesisInternational journal of cancerREFERENCES
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Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy

2012

Pancreatic adenocarcinoma (PC) is the third most common cancer associated with BRCA mutations. Most notice has been given to BRCA2, while the association between BRCA1 and PC is less widely reported. Recently, PALB2 has been implicated in both PC and breast cancer (BC) susceptibility. We selected 29 Italian PC patients from a case-control study of PC according to their personal and family history of both PC and breast/ovarian cancer (BC/OC) and tested them for presence of germline mutations in BRCA1, BRCA2 and PALB2. We identified no germline mutations or deletions in PALB2, but detected 7 BRCA mutations (4 in BRCA1 and 3 in BRCA2). These findings suggest that PALB2 does not play a major ro…

MaleCancer Researchendocrine system diseasesSettore MED/06 - Oncologia MedicaBRCAGermlineGermline mutationHereditary breast ovarian cancer syndrome (HBOC)skin and connective tissue diseasesGenetics (clinical)Nuclear ProteinOvarian NeoplasmsAged 80 and overGeneticseducation.field_of_studyBRCA1 ProteinPancreatic NeoplasmNuclear ProteinsMiddle Agedfemale genital diseases and pregnancy complicationsPedigreeItalyOncologyAdenocarcinomaFemaleCase-Control StudieFanconi Anemia Complementation Group N ProteinPancreatic cancer susceptibility; BRCA; PALB2; Hereditary breast ovarian cancer syndrome (HBOC); Germline mutationBreast NeoplasmHumanAdultPALB2PopulationBreast NeoplasmsAdenocarcinomaGermline mutationBreast cancerGeneticPancreatic cancerGeneticsmedicineHumansGenetic Predisposition to DiseaseeducationGerm-Line MutationAgedBRCA2 ProteinTumor Suppressor Proteinbusiness.industryTumor Suppressor ProteinsOvarian NeoplasmCancermedicine.diseasePancreatic cancer susceptibilityPancreatic NeoplasmsCase-Control StudiesPALB2businessGene DeletionFamilial Cancer
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