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showing 10 items of 4920 documents

Second report on chicken genes and chromosomes 2005.

2005

International audience

medicine.medical_specialtyChickens/genetics[SDV]Life Sciences [q-bio]Single-nucleotide polymorphismAnimal Breeding and Genomicsin-situ hybridizationMajor histocompatibility complexChromosomes5S ribosomal RNAMolecular geneticssingle-nucleotide polymorphismsMHC class IGeneticsmedicineAnimalsmhc class-itranslation initiation factor-4aFokkerij en GenomicaCYTOGENETIC MAPSMolecular BiologyGeneexpressed sequence tagsGenetics (clinical)ComputingMilieux_MISCELLANEOUSnucleolar-size polymorphismsGeneticsExpressed sequence tagCHICKENSModels GeneticbiologyChromosomes/geneticsdt40 cell-linetelomerase rna genemajor histocompatibility complexHuman genetics[SDV] Life Sciences [q-bio]GENETIC MAPS5s ribosomal-rnaWIASbiology.protein
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PNPLA3 Rs738409 C>G Variant Predicts Liver-Related Outcomes in Patients with Non-Alcoholic Fatty Liver Disease

2019

Background: Patients with NAFLD are at higher risk of developing liver-related complications -liver decompensation(LD) and hepatocellular carcinoma (HCC), including death-. A single nucleotide polymorphism in PNPLA3 gene is associated with a higher prevalence of liver damage and HCC, but prospective date are not available. We aimed to assess whether the common rs738409 variant in PNPLA3 gene can predict the occurrence of liver-related events and death in a large cohort of NAFLD patients.   Methods: We considered 471 consecutive Italian individuals with histological diagnosis of NAFLD or clinical diagnosis of compensated NAFLD-related cirrhosis, prospectively followed for at least 6 months. …

medicine.medical_specialtyCirrhosisProportional hazards modelbusiness.industryFatty liverSingle-nucleotide polymorphismmedicine.diseaseGastroenterologyHelsinki declarationFibrosisInternal medicineHepatocellular carcinomamedicineDecompensationbusinessSSRN Electronic Journal
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ADAMTS13 and VWF activities guide individualized caplacizumab treatment in patients with aTTP

2020

Abstract Introduction of the nanobody caplacizumab was shown to be effective in the treatment of acquired thrombotic thrombocytopenic purpura (aTTP) in the acute setting. The official recommendations include plasma exchange (PEX), immunosuppression, and the use of caplacizumab for a minimum of 30 days after stopping daily PEX. This study was a retrospective, observational analysis of the use of caplacizumab in 60 patients from 29 medical centers in Germany. Immunosuppressive treatment led to a rapid normalization of ADAMTS13 activities (calculated median, 21 days). In 35 of 60 patients, ADAMTS13 activities started to normalize before day 30 after PEX; in 11 of 60 patients, the treatment was…

medicine.medical_specialtyClinical Trials and Observationsmedicine.medical_treatmentMedizinADAMTS13 Protein030204 cardiovascular system & hematology03 medical and health sciences0302 clinical medicineVon Willebrand factorFibrinolytic AgentsInternal medicinehemic and lymphatic diseasesvon Willebrand FactormedicineHumansIn patientRetrospective StudiesAcquired Thrombotic Thrombocytopenic PurpurabiologyPurpura Thrombotic Thrombocytopenicbusiness.industryImmunosuppressionRetrospective cohort studyHematologySingle-Domain AntibodiesADAMTS13Cardiovascular and Metabolic Diseases030220 oncology & carcinogenesisbiology.proteinBiomarker (medicine)Caplacizumabbusiness
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Fluticasone propionate/formoterol: a fixed-combination therapy with flexible dosage.

2014

International guidelines describe asthma control as the main outcome of asthma management. Prevention of symptoms, improved quality of life, and reduction of exacerbations are the main components, consequently decreasing health care costs. However, many of these objectives remain unmet in real life: several surveys show that a large proportion of asthmatic patients are not well controlled despite the efficacy of current available treatment. Several randomized controlled clinical trials indicate that combining inhaled corticosteroids and long-acting β2-agonists, by means of a single inhaler, greatly improves the management of the disease. The results of 9 multicenter phase III clinical studi…

medicine.medical_specialtyCombination therapyAsthma exacerbationSettore MED/10 - Malattie dell'Apparato RespiratorioSettore MED/10 - Malattie Dell'Apparato RespiratorioFluticasone propionateAsthma control; Asthma exacerbations; Fixed-combination therapy; Fluticasone propionate/formoterol; Single-aerosol inhalerAsthma controlFluticasone propionate/formoterolForced Expiratory VolumeFormoterol FumarateInternal MedicineMedicineHumansAnti-Asthmatic AgentsAsthma exacerbationsParticle SizeIntensive care medicineAsthmaFluticasonebusiness.industryInhalerNebulizers and VaporizersFixed-combination therapyAsthma control; Asthma exacerbations; Fixed-combination therapy; Fluticasone propionate/formoterol; Single-aerosol inhaler; Androstadienes; Anti-Asthmatic Agents; Asthma; Bronchodilator Agents; Drug Combinations; Ethanolamines; Fluticasone; Forced Expiratory Volume; Formoterol Fumarate; Humans; Nebulizers and Vaporizers; Particle Size; Quality of Life; Treatment Outcomemedicine.diseaseSingle-aerosol inhalerAsthmaBronchodilator AgentsAndrostadienesDrug CombinationsTreatment OutcomeTolerabilityAsthma control Asthma exacerbations Fixed-combination therapy Fluticasone propionate/formoterol Single-aerosol inhalerEthanolaminesAnesthesiaAsthma exacerbations; Asthma control; Fixed-combination therapy; Fluticasone propionate/formoterol; Single-aerosol inhalerQuality of LifeFluticasoneFormoterol FumarateFormoterolbusinessmedicine.drugEuropean journal of internal medicine
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SARS-CoV-2 Viral Load, IFNλ Polymorphisms and the Course of COVID-19: An Observational Study

2020

The course of SARS-CoV-2 infection ranges from asymptomatic to a multiorgan disease. In this observational study, we investigated SARS-CoV-2 infected subjects with defined outcomes, evaluating the relationship between viral load and single nucleotide polymorphisms of genes codifying for IFN&lambda

medicine.medical_specialtyCoronavirus disease 2019 (COVID-19)viruseslcsh:MedicineSingle-nucleotide polymorphismDiseaseSettore MED/42 - Igiene Generale E ApplicataLower riskAsymptomaticGastroenterologyArticle03 medical and health sciencessingle nucleotide polymorphisms0302 clinical medicinesingle nucleotide polymorphismSettore BIO/13 - Biologia ApplicataInterferonIFNλsInternal medicinemedicine030212 general & internal medicineskin and connective tissue diseasesCOVID-19 outcome030304 developmental biologySettore MED/12 - Gastroenterologia0303 health sciencesbusiness.industrySARS-CoV-2fungilcsh:RIFNλGeneral Medicinerespiratory tract diseasesCOVID-19 outcomesviral loadbody regionsObservational studymedicine.symptombusinessViral loadmedicine.drugJournal of Clinical Medicine
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Human corticotropin-releasing hormone and thyrotropin-releasing hormone modulate the hypercapnic ventilatory response in humans

1996

Human corticotropin-releasing hormone (hCRH) and thyrotropin-releasing hormone (TRH) are known to stimulate ventilation after i.v. administration in humans. In a placebo-controlled, single-blind study we aimed to clarify if both peptides act by altering central chemosensitivity. Two subsequent CO2-rebreathing tests were performed in healthy young volunteers. During the first test 0.9% NaCl was given i.v.; during the second test 200 micrograms of hCRH (n = 12) or 400 micrograms of TRH (n = 6) was administered i.v. Nine subjects received 0.9% NaCl i.v. during both rebreathing manoeuvres. The CO2-response curves for the two tests were compared within the same subject. In the hCRH group a marke…

medicine.medical_specialtyCorticotropin-Releasing HormoneClinical BiochemistryThyrotropin-releasing hormonePeptide hormoneBiochemistryHypercapniaPlacebos03 medical and health sciencesCorticotropin-releasing hormone0302 clinical medicineTachycardiaInternal medicineFlushingmedicineHumansSingle-Blind MethodRespiratory systemThyrotropin-Releasing HormoneLung function030304 developmental biology0303 health sciencesbusiness.industryRespirationGeneral MedicineCarbon DioxideRespiratory Function TestsEndocrinologyBreathingbusiness030217 neurology & neurosurgeryHormoneEuropean Journal of Clinical Investigation
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P162 Prevalence of nafld (non alcoholic fatty liver disease) and fibrosis in inflammatory bowel disease: the impact of traditional risk factors, inte…

2020

Abstract Background Prevalence of NAFLD has recently been reported increased in inflammatory bowel disease (IBD) with conflicting results due to heterogeneity of published studies, especially in the diagnostic definition of NAFLD. The increased risk of NAFLD might be related to traditional risk factors but also to IBD-related factors. The role of genetic markers has been addressed only in one study. The aim of our study has been to assess the prevalence of NAFLD and fibrosis in a homogeneous cohort of patients with IBD, assessing the role of metabolic, disease-related and genetic factors. Methods the diagnosis of NAFLD was based on transient fibroelastometry findings (CAP ≥288 dB/m) and HSI…

medicine.medical_specialtyCrohn's diseasebusiness.industryFatty liverGastroenterologySingle-nucleotide polymorphismInflammationGeneral MedicineDiseasemedicine.diseaseInflammatory bowel diseaseGastroenterologyUlcerative colitisdigestive system diseasesFibrosisInternal medicinemedicinemedicine.symptombusinessJournal of Crohn's and Colitis
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P028 The Apa I polymorphism in the Vitamin D receptor gene is associated with a stricturing behaviour in Crohn′s disease patients

2021

Abstract Background Vitamin D receptor (VDR) is a member of the nuclear receptor family of transcription factors that plays an immunomodulatory role in the gastrointestinal tract through binding Vitamin D. Single-nucleotide polymorphisms (SNPs) in the VDR gene have been related to inflammatory bowel disease. Indeed, Crohn′s disease (CD) patients carrying the Taq I polymorphism in VDR gene run a higher risk of developing a penetrating behaviour. We analyse here the association between the VDR SNPs Taq I, Bsm I, Apa I and Fok I and the clinical characteristics of CD. Methods DNA was extracted from blood samples from 80 patients diagnosed with CD from the Hospital of Manises (Valencia). Four p…

medicine.medical_specialtyCrohn's diseasebusiness.industryGastroenterologySingle-nucleotide polymorphismGeneral Medicinemedicine.diseaseInflammatory bowel diseaseGastroenterologyVitamin D3 ReceptorPolymorphism (computer science)Internal medicineGenotypemedicineVitamin D and neurologyAllelebusinessJournal of Crohn's and Colitis
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Variants translating reduced expression of the beta estrogen receptor gene were associated with increased carotid intima media thickness : a cross-se…

2021

Abstract Background There is debate on the role of estrogens in modulating the risk for atherosclerosis in women. Our purpose was to investigate whether the size of the estrogenic impact was independently associated with variation of carotid intima-media thickness (IMT) in healthy late postmenopausal women. The levels of circulating estrogens have been used in previous studies but the influence of SNPs of the estrogen receptors (ER) α and β has not been investigated.Methods We performed a crossed-sectional study of 91 women in a university hospital. We used a double approach in which, in addition to the measurement of estradiol levels by ultrasensitive methods, genetic variants (SNPs) assoc…

medicine.medical_specialtyCross-sectional studyArterioesclerosis - Factores de riesgo.Estrogen receptorEstrógenos.Single-nucleotide polymorphismArteriosclerosis - Risk factors.Menopausia.03 medical and health sciences0302 clinical medicineInternal medicineGenotypemedicineVitamin D and neurologySNPcardiovascular diseases030212 general & internal medicinebusiness.industryMenopause.General MedicineEstrogen.Carotid artery.EndocrinologyIntima-media thickness030220 oncology & carcinogenesisArteria carótida.cardiovascular systembusinessEstrogen receptor alpha
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Oral Health Scales: Design of an Oral Health Scale of Infectious Potential

2013

Objectives: In this paper we propose a new Global Oral Health Scale that will allow the infectious potential of the oral cavity, clinically manifest as local and focal infections, to be condensed into a single parameter. Study Design: Based on a number of oral health scales previously designed by our group, we designed a final version that incorporates dental and periodontal variables (some of them evaluated using corroborated objective indices) that reflect the presence of caries and periodontal disease. Results: The application of the proposed oral health scale requires the examination of 6 sites per tooth (mesio- buccal, medio-buccal, disto-buccal, disto-lingual, medio-lingual and mesio-…

medicine.medical_specialtyDentistryOdontologíaOral HealthOral healthOral cavityRisk Assessmentstomatognathic systemPeriodontal diseaseEpidemiologyHumansMedicineGingival inflammationGeneral DentistryFinal versionbusiness.industrySingle parameterBacterial Infections:CIENCIAS MÉDICAS [UNESCO]Ciencias de la saludstomatognathic diseasesOtorhinolaryngologyScale (social sciences)UNESCO::CIENCIAS MÉDICASResearch-ArticleOdontostomatology for the Disabled or Special PatientsSurgerybusinessMedicina Oral Patología Oral y Cirugia Bucal
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