Search results for "OSA"

showing 10 items of 9388 documents

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations

2011

Abstract Background Usher Syndrome type II (USH2) is an autosomal recessive disorder, characterized by moderate to severe hearing impairment and retinitis pigmentosa (RP). Among the three genes implicated, mutations in the USH2A gene account for 74-90% of the USH2 cases. Methods To identify the genetic cause of the disease and determine the frequency of USH2A mutations in a cohort of 88 unrelated USH Spanish patients, we carried out a mutation screening of the 72 coding exons of this gene by direct sequencing. Moreover, we performed functional minigene studies for those changes that were predicted to affect splicing. Results As a result, a total of 144 DNA sequence variants were identified.…

AdultMaleSequence VariantsAdolescentGenotypegenetic structuresUsher syndromeDNA Mutational AnalysisMutation Missenselcsh:MedicineBiologymedicine.disease_causeExonYoung AdultUSH2ARetinitis pigmentosaGenotypemedicineotorhinolaryngologic diseasesHumansGenetics(clinical)Pharmacology (medical)<it>USH2A</it>GeneAllele frequencyGenetics (clinical)GeneticsMedicine(all)MutationExtracellular Matrix ProteinsResearchlcsh:RGeneral MedicineExonsMiddle Agedmedicine.diseaseeye diseasesPhenotypeSpainMutationFemalesense organsUsher SyndromeUsher SyndromesMutationsMinigeneOrphanet Journal of Rare Diseases
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Different effectiveness of two pastas supplemented with either lipophilic or hydrophilic/phenolic antioxidants in affecting serum as evaluated by the…

2017

Effectiveness in improving serum antioxidant status of two functional pastas was evaluated by the novel Antioxidant/ Oxidant Balance (AOB) parameter, calculated as Antioxidant Capacity (AC)/Peroxide Level ratio, assessed here for the first time. In particular, Bran Oleoresin (BO) and Bran Water (BW) pastas, enriched respectively with either lipophilic (tocochromanols, carotenoids) or hydrophilic/phenolic antioxidants extracted from durum wheat bran, were studied. Notably, BO pasta was able to improve significantly (+65%) serum AOB during four hours after intake similarly to Lisosan G, a wheat antioxidant-rich dietary supplement. Contrarily, BW pasta had oxidative effect on serum so as conve…

AdultMaleSerumAntioxidantmedicine.medical_treatmentPeroxideAntioxidantsAnalytical Chemistrychemistry.chemical_compoundYoung Adult0404 agricultural biotechnologyPhenolsmedicineHumansFood sciencePhenolsOleoresinCarotenoidTriticumchemistry.chemical_classificationABTSBranPlant ExtractsTEACMedicine (all)Human serumfood and beveragesReproducibility of Results04 agricultural and veterinary sciencesGeneral MedicineOxidants040401 food scienceCarotenoidsDurum wheat antioxidantLOX-FLSettore AGR/02 - Agronomia E Coltivazioni ErbaceeFunctional pastachemistryBiochemistryDietary SupplementsORACFemaleTroloxLisosan GOxidation-ReductionFood ScienceFood chemistry
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The association between smoking prevalence and eating disorders: a systematic review and meta-analysis

2016

BACKGROUND AND AIMS: Cigarette smoking is associated with severe mental illness, including schizophrenia and bipolar disorder, and with morbidity and mortality, but the association with anorexia (AN), bulimia nervosa (BN) and binge eating disorder (BED) is unclear. This meta-analysis compared the odds of smoking in eating disorders (ED) (ED = AN or BN or BED) versus healthy controls (HC) and calculated the prevalence of smokers in people with ED. METHODS: Three independent authors searched PubMed, MEDLINE and Scopus from database inception until 31 December 2015 for studies reporting data on life-time or current smoking prevalence in BED, BN and AN with or without control group. Meta-analys…

AdultMaleSex Factormeta-analysiRegression AnalysiCigarette SmokingFeeding and Eating DisordersYoung AdultSex FactorsBinge eating disordermental disordersPrevalenceAnorexia nervosa binge eating disorder bulimia nervosa eating disorders meta-analysis moderators smoking.Feeding and Eating DisorderHumansAnorexia nervosa; Binge eating disorder; Bulimia nervosa; Eating disorders; Meta-analysis; Moderators; SmokingSmokingModeratorsmoderatorAnorexia nervosaHealthy VolunteerHealthy VolunteersMeta-analysisBulimia nervosaeating disorderEating disordersRegression AnalysisFemaleHuman
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Cytokine Gene Transcription By NF-kappaB Family Members in Patients with Inflammatory Bowel Disease

1998

We examined the expression of the transcription factor NF-kappa B, a nuclear trans-acting factor known to play a key role in cytokine gene regulation, in patients with inflammatory bowel disease (IBD). It was found that LP macrophages in Crohn's disease (CD) and ulcerative colitis (UC) display high levels of NF-kappa B DNA-binding activity accompanied by an increased production of interleukin (IL)-1, IL-6, and tumor necrosis factor (TNF) alpha. Western blot studies showed an increased expression of the p50 and c-rel subunits of NF-kappa B; however, the most striking finding was an increased expression level of NF-kappa B p65 in patients with CD and UC. Selective downregulation of p65 in IBD…

AdultMaleShort Bowel SyndromeAdolescentTranscription GeneticColonBiologyInflammatory bowel diseaseGeneral Biochemistry Genetics and Molecular BiologyProinflammatory cytokinechemistry.chemical_compoundCrohn DiseaseHistory and Philosophy of ScienceDownregulation and upregulationmedicineHumansIntestinal MucosaTranscription factorCells CulturedRegulation of gene expressionMacrophagesGeneral NeuroscienceNF-kappa BInterleukinNF-κBMiddle Agedmedicine.diseaseGene Expression RegulationchemistryImmunologyCancer researchCytokinesColitis UlcerativeFemaleTumor necrosis factor alphaAnnals of the New York Academy of Sciences
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Oral lichenoid lesions associated with amalgam restorations : a prospective pilot study addressing the adult population of the Basque Country

2011

Oral lichenoid lesions (OLLs) are linked to a heterogeneous group of pathologies involving the oral mucosa that cannot be distinguished from the oral lichen planus excepting the fact that direct causal factors such as silver amalgam restorations (SARs) can be allocated to them. Purpose: To analyze the prevalence of mucosal lesions associated with SAR in a group of SAR carrying patients in the Basque Country. Study D esign: A clinical prospective study was carried out on 100 adult patients over 30 years of age at the UPV/ EHU Clinical Odontology Service whose rear teeth had at least one SAR. Patients were identified and mucosal lesions and amalgam restorations were characterized. Patch tests…

AdultMaleSilverDentistryPilot Projectsengineering.materialDental AmalgamAsymptomaticLesionstomatognathic systemPrevalencemedicineHumansProspective StudiesOral mucosaDental Restoration PermanentProspective cohort studyskin and connective tissue diseasesGeneral DentistryLichenoid lesionsAgedOral Medicine and Pathologybusiness.industryfungiPatch testMiddle Aged:CIENCIAS MÉDICAS [UNESCO]medicine.diseaseAmalgam (dentistry)body regionsstomatognathic diseasesmedicine.anatomical_structureOtorhinolaryngologySpainUNESCO::CIENCIAS MÉDICASengineeringFemaleResearch-ArticleSurgeryOral lichen planusmedicine.symptombusinessLichen Planus Oral
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Obstructive sleep apnoea syndrome (OSAS): effects on the vestibular system

2010

SUMMARY Aim of the present study was to evaluate the effects of obstructive sleep apnoea syndrome (OSAS) on the peripheral and central vestibular system, by means of a case series prospective study at the University referral centre of Otolaryngology Head and Neck Surgery; 45 consecutive patients suffering from OSAS were compared with a control group of 30 volunteer subjects selected from among the department employees. Severity of the disease was evaluated by means of cardio-respiratory function monitoring during sleep; the apnoea-hypopnoea index was calculated. Both groups underwent: 1) head and neck examination; 2) fibre-optic examination; 3) pure tone audiometry; 4) evaluation of eye mov…

AdultMaleSleep Apnea ObstructiveOSASMiddle AgedDizzinessVestibologyImbalanceYoung AdultVestibular DiseasesVertigoHumansDisequilibriumFemaleProspective StudiesActa Otorhinolaryngologica Italica
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Effects of cold atmospheric plasma (CAP) on bacteria and mucosa of the upper aerodigestive tract.

2019

Abstract Objective Ear, nose and throat infections are among the most common reasons for absence from work. They are usually caused by various bacteria like Haemophilus influenzae, Staphylococcus aureus, Streptococcus pneumoniae and Streptococcus pyogenes. Cold atmospheric plasma (CAP) can effectively eliminate even multi-resistant bacteria and has no cytotoxic or mutagenic effects on the mucosa when applied for less than 60 s. Aim of the study was to evaluate the effects of CAP on common ENT bacteria and on the mucosa of the upper aerodigestive tract. Methods The bactericidal effects of CAP against the bacteria most commonly causing ENT infections were investigated using the colony-forming…

AdultMaleStaphylococcus aureusNecrosisPlasma GasesCell SurvivalStreptococcus pyogenesColony Count MicrobialOropharynxRespiratory Mucosamedicine.disease_causeMicrobiologyHaemophilus influenzae03 medical and health sciencesNecrosisYoung Adult0302 clinical medicineOrgan Culture TechniquesStreptococcus pneumoniaeotorhinolaryngologic diseasesmedicineHumansOtitisViability assay030223 otorhinolaryngologyRespiratory Tract InfectionsNoseRhinitisbiologybusiness.industryPharyngitisGeneral MedicineMiddle Agedbiology.organism_classificationHaemophilus influenzae3. Good healthmedicine.anatomical_structureStreptococcus pneumoniaeOtorhinolaryngologyStaphylococcus aureus030220 oncology & carcinogenesisStreptococcus pyogenesSurgeryFemalemedicine.symptombusinessBacteriaAuris, nasus, larynx
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Diabetic Microagiopathy of Oral Mucosa Depends on Disease Duration and Therapy

2017

Background: Diabetes mellitus is a chronic degenerative systemic disease whose prevalence is increasing. This paper aims to evaluate the effects of diabetic microangiopathy, depending on its duration and the type of treatment administered, by using polarized light videocapillaroscopy of the oral mucosa. Material/Methods: We enrolled 120 subjects: 60 healthy subjects and 60 patients with diabetes mellitus. In turn, patients were divided into 3 subgroups according to the type of diabetes, the duration of the disease, and the type of treatment administered. A videocapillaroscopic examination of the oral mucosa was carried out on the diabetic and healthy subjects. Results: Changes in microcircu…

AdultMaleSystemic diseasemedicine.medical_specialtymedicine.medical_treatment030209 endocrinology & metabolismGastroenterologyMicroscopic AngioscopyMicrocirculationDiabetes Complications03 medical and health sciences0302 clinical medicineTongueClinical ResearchTongueDiabetes mellitusInternal medicinemedicineHumansOral mucosaType 1 diabetesbusiness.industryMicrocirculationInsulinMouth Mucosa030206 dentistryGeneral MedicineBuccal administrationMiddle Agedmedicine.diseaseCapillariesDiabetes Mellitus Type 1medicine.anatomical_structureDiabetes Mellitus Type 2Dentistry Diabetes Complications Microcirculation Microscopic AngioscopyDentistryFemalebusinessDiabetic AngiopathiesMedical Science Monitor
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Bacteria-specific T-cell clones are selective in their reactivity towards different enterobacteria or H. pylori and increased in inflammatory bowel d…

1996

In the present study the authors investigated the T-cell response to different enterobacteria or Helicobacter pylori and tested the hypothesis that the frequency of bacteria-specific T cells is increased in the intestine of patients with active inflammatory bowel disease (IBD), i.e. Crohn's disease (CD) and ulcerative colitis (UC). The analysis of a large panel of T-cell clones (Tc) (n = 888) from peripheral blood, non-inflamed and inflamed intestine from IBD patients and control individuals shows that both peripheral blood and intestinal T-cell clones were selectively stimulated by either Salmonella typhimurium, Yersinia enterocolitica 03, Escherichia coli or Helicobacter pylori sonicates,…

AdultMaleT cellT-LymphocytesImmunologymedicine.disease_causeLymphocyte ActivationInflammatory bowel diseaseMicrobiologyAntigenEnterobacteriaceaeSpecies SpecificitymedicineSuperantigenHumansIntestinal MucosaEscherichia coliAgedbiologyHelicobacter pyloriGeneral MedicineHelicobacter pyloriMiddle Agedmedicine.diseasebiology.organism_classificationInflammatory Bowel DiseasesUlcerative colitisClone Cellsmedicine.anatomical_structureImmunologybiology.proteinLeukocytes MononuclearFemaleAntibodyScandinavian journal of immunology
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Tap water consumers differ from non-consumers in chlorine flavor acceptability but not sensitivity

2010

International audience; Unpleasant taste and especially chlorine flavor is one of the most common reasons advocated for choosing tap water alternatives as drinking water. As a consequence, the putative link between sensitivity to chlorine flavor and tap water consumption is an issue in drinking water habits studies. In the present study, we set out to examine such a link following a strategy in which we measured chlorine flavor perception at threshold and supra-threshold level for two groups of participants selected on their drinking water consumption habits. The first group included exclusive tap water consumers and the second group included exclusive bottled water consumers. In a first ex…

AdultMaleTasteEnvironmental EngineeringPsychometrics0211 other engineering and technologiesWater supplychemistry.chemical_element02 engineering and technology010501 environmental sciences01 natural sciencesFood PreferencesTap waterWater SupplyFLAVOR INTENSITYpolycyclic compoundsChlorineHumansTaste ThresholdFood science[SDU.STU.HY]Sciences of the Universe [physics]/Earth Sciences/HydrologyWaste Management and DisposalFlavor0105 earth and related environmental sciencesWater Science and TechnologyCivil and Structural Engineering021110 strategic defence & security studiesChemistryDetection thresholdbusiness.industryEcological ModelingCHLORINE FLAVOURTAP WATER CONSUMPTIONfood and beveragesBottled waterPollutionTHRESHOLDSLIKINGACCEPTABILITYTasteTaste ThresholdFemaleChlorinebusinessWater Research
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