Search results for "Organs"

showing 10 items of 2730 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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Hypnosis Attitudes: Treatment Effects and Associations With Symptoms in Individuals With Cancer.

2017

Attitudes about hypnosis are associated with hypnotic responsiveness. However, little is known about how hypnosis attitudes change with treatment and if those changes are associated with better outcomes. This study examined whether an intervention based on the Valencia Model of Waking Hypnosis combined with Cognitive-Behavioral Therapy changed attitudes about hypnosis in a sample of patients with a history of cancer. The results indicated that the intervention improved attitudes toward hypnosis, relative to a control intervention, and the improvements remained stable at 3-month follow-up. Analyses also showed that changes in some attitudes were associated with treatment-related improvements…

AdultMaleSleep Wake Disorders050103 clinical psychologyHypnosisHealth Knowledge Attitudes PracticePsychotherapistmedicine.medical_treatmentTreatment outcomePain03 medical and health sciences0302 clinical medicineCancer SurvivorsIntervention (counseling)NeoplasmsOutcome Assessment Health CaremedicineHumans0501 psychology and cognitive sciencesDepression (differential diagnoses)FatigueAgedAged 80 and overCognitive Behavioral Therapy05 social sciencesCancerGeneral MedicineMiddle Agedmedicine.diseaseComplementary and alternative medicineCognitive therapyFemalesense organsPsychology030217 neurology & neurosurgeryHypnosisClinical psychologyThe American journal of clinical hypnosis
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Do Stretch Durations Affect Muscle Mechanical and Neurophysiological Properties?

2016

International audience; The aim of the study was to determine whether stretching durations influence acute changes of mechanical and neurophysiological properties of plantar flexor muscles. Plantar flexors of 10 active males were stretched in passive conditions on an isokinetic dynamometer. Different durations of static stretching were tested in 5 randomly ordered experimental trials (1, 2, 3, 4 and 10×30-s). Fascicle stiffness index, evoked contractile properties and spinal excitability (Hmax/Mmax) were examined before (PRE), immediately after (POST0) and 5 min after (POST5) stretching. No stretch duration effect was recorded for any variable. Moreover, whatever the stretching duration, st…

AdultMaleTime FactorsM waveStiffness indexPhysical Therapy Sports Therapy and RehabilitationPlantar flexionStatic stretchingYoung Adult03 medical and health sciencesstiffness0302 clinical medicineMuscle Stretching Exercises[SDV.MHEP.PHY]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO]medicineHumansOrthopedics and Sports MedicineH reflexMuscle Skeletalsoleusdose-responseFootChemistry[ SDV.MHEP.PHY ] Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO]030229 sport sciencesAnatomyNeurophysiologyFascicleTorqueIsokinetic dynamometermedicine.symptomH-reflex030217 neurology & neurosurgeryMuscle ContractionMuscle contractionBiomedical engineering
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Response of the aging eye to first day of modern material contact lens wear

2018

Objectives: To investigate the ocular surface of an aged population wearing a daily disposable contact lens over their first day of wear. Methods: Forty eyes from forty presbyopic subjects were fitted a daily CL (Delefilcon A). Tear osmolarity, tear meniscus area (TMA) and ocular surface aberrations (total higher order root means square (RMS)) were assessed at baseline (t0), at 20 minutes (t1) and after 8 hours (t2) of wear. Fluorescein corneal and conjunctival staining and tear break up time (TBUT) were performed at t0 and t2. Results: No statistically significant changes were found between t0, t1 and t2 for TMA, and between t0 and t2 for fluorescein corneal and conjunctival staining. TBUT…

AdultMaleUlls Acomodació i refracciómedicine.medical_specialtyAgingPopulationBaseline levelCornea03 medical and health scienceschemistry.chemical_compound0302 clinical medicineOphthalmologymedicineHumansProspective StudiesFluoresceineducationDisposable EquipmentVision OcularOsmoleeducation.field_of_studyOsmotic concentrationbusiness.industryOsmolar ConcentrationEquipment DesignPresbyopiaMiddle AgedContact Lenses HydrophilicTear osmolarityeye diseasesÒptica Aparells i instrumentsContact lensOphthalmologyTear meniscuschemistryPatient SatisfactionTears030221 ophthalmology & optometryDry Eye SyndromesFemalesense organsbusinessConjunctiva030217 neurology & neurosurgeryFollow-Up Studies
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Immunohistochemical analysis of vascular endothelial growth factor (VEGF) and p53 expression in pterygium from Tunisian patients.

2009

A pterygium is characterized by abnormal fibrovascular corneoconjunctival tissue. A number of investigations have attempted to elucidate this incompletely understood pathology. Since vascular endothelial growth factor (VEGF) and p53 are known to participate in tumor vascularization, our purpose was to study VEGF and p53 expression in active primary and recurrent pterygium from Tunisian patients. To this end, 15 cases of active primary pterygium and five cases of recurrent pterygium from Tunisia were studied by immunohistochemistry. Antibodies raised against VEGF and p53 were used to analyze the distribution and expression of these markers in pterygium and normal human conjunctiva were used …

AdultMaleVascular Endothelial Growth Factor APathologymedicine.medical_specialtyConjunctivaTunisiaAngiogenesisPterygiumPathogenesisNeovascularizationImmunoenzyme Techniqueschemistry.chemical_compoundYoung AdultRecurrenceMedicineHumansCorneal NeovascularizationAgedbusiness.industryGeneral MedicineMiddle Agedmedicine.diseaseGenes p53eye diseasesPathophysiologyPterygiumVascular endothelial growth factormedicine.anatomical_structurechemistryImmunohistochemistryFemalesense organsmedicine.symptomTumor Suppressor Protein p53businessConjunctivaPathologie-biologie
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Immunohistochemical analysis of cellular adhesion molecules (ICAM-1, VCAM-1) and VEGF in fibrovascular membranes of patients with proliferative diabe…

2009

Abstract Purpose Diabetic fibrovascular membranes are the main pathological changes of proliferative diabetic retinopathy that can cause serious complications leading to blindness. Since the mechanism of fibrovascular membrane development is still unknown, the aim of our study was to identify potential biomarkers for this pathology. To this end, we analyzed the simultaneous expression of ICAM-1, VCAM-1 and VEGF within tissues of diabetic fibrovascular membranes. Patients and methods Fibrovascular membranes were taken from nine diabetic patients with proliferative diabetic retinopathy. The fibrovascular membrane specimens were analyzed by immunohistochemistry to determine ICAM-1, VCAM-1 and …

AdultMaleVascular Endothelial Growth Factor AProliferative vitreoretinopathyPathologymedicine.medical_specialtyAgingBiopsyVascular Cell Adhesion Molecule-1Cataract Extractionchemistry.chemical_compoundYoung AdultReference ValuesDiabetes mellitusmedicineHumansVCAM-1AgedDiabetic RetinopathyCell adhesion moleculebusiness.industryRetinal VesselsGeneral MedicineDiabetic retinopathyMiddle Agedmedicine.diseaseIntercellular Adhesion Molecule-1Immunohistochemistryeye diseasesVascular endothelial growth factor AchemistryImmunologyDisease ProgressionImmunohistochemistryFemalesense organsbusinessCell Adhesion MoleculesConjunctivaRetinopathyPathologie-biologie
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Aqueous Humor Levels of Vascular Endothelial Growth Factor in Retinitis Pigmentosa

2008

PURPOSE To determine the level of vascular endothelial growth factor A (VEGF-A) in aqueous humors of patients with retinitis pigmentosa (RP). METHODS A prospective, comparative control study. Aqueous humor was collected from 16 eyes of 16 patients with RP. The level of VEGF-A was determined with a commercially available enzyme-linked immunosorbent assay kit. The control group comprised 16 aqueous samples from 16 patients about to undergo cataract surgery and without any other ocular or systemic diseases. RESULTS The concentration of VEGF-A in aqueous humor was markedly lower in patients with RP than in control subjects (Mann-Whitney U test, P < 0.001). The level of VEGF-A was 94.9 +/- 99.8 …

AdultMaleVascular Endothelial Growth Factor Amedicine.medical_specialtygenetic structuresmedicine.medical_treatmentEye diseaseEnzyme-Linked Immunosorbent AssayAqueous humorAqueous Humorchemistry.chemical_compoundOphthalmologyRetinitis pigmentosaHumansMedicineProspective StudiesAgedbusiness.industryMiddle AgedCataract surgerymedicine.diseaseControl subjectseye diseasesVascular endothelial growth factorVascular endothelial growth factor AchemistryFemalesense organsbusinessRetinitis PigmentosaRetinopathyInvestigative Opthalmology &amp; Visual Science
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Elevated protein carbonyl and HIF-1α levels in eyes with proliferative diabetic retinopathy.

2013

Purpose: To evaluate the role of protein carbonyls and hypoxia inducible factor-1a (HIF-1a) in diabetic eyes with proliferative diabetic retinopathy (PDR). Methods: Prospective consecutive controlled observational study was performed. Vitreous samples were collected at the start of the 3-ppp vitrectomy. Protein carbonylation analysis was performed by Western blotting with antibody against 2,4-Dinitrophenol (anti-DNP), following derivatization of protein carbonyls with 2,4 Dinitrophenylhydrazine (DNHP). Protein carbonylation was quantified by scanning densitometry analysis and relativized to the total amount of protein into the ponceau staining of membranes. Vitreous HIF-1 a was determined w…

AdultMaleVascular Endothelial Growth Factor Amedicine.medical_specialtygenetic structuresmedicine.medical_treatmentProtein CarbonylationBlotting WesternVitrectomyEnzyme-Linked Immunosorbent Assaymedicine.disease_causePathogenesisProtein Carbonylationchemistry.chemical_compoundOphthalmologyVitrectomymedicineHumansProspective StudiesMacular holeAgedGlycated HemoglobinDiabetic Retinopathybusiness.industryRetinal detachmentGeneral MedicineDiabetic retinopathyMiddle Agedmedicine.diseaseHypoxia-Inducible Factor 1 alpha Subuniteye diseasesSurgeryVascular endothelial growth factorVitreous BodyOphthalmologyOxidative StressDiabetes Mellitus Type 1chemistryDiabetes Mellitus Type 2Femalesense organsbusinessOxidative stressActa ophthalmologica
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Diseases of the vertebral arteries.

1990

Case reports and postmortem neuropathological findings of a wide spectrum of diseases affecting the vertebral arteries, in particular vasculitis, traumatic lesions, degenerative changes and congenital abnormalities, are discussed.

AdultMaleVasculitisPathologymedicine.medical_specialtySystemic diseaseVertebral arteryAneurysmmedicine.arteryMedicineHumansChiropractic manipulationVertebral ArteryAgedAged 80 and overbusiness.industryGeneral MedicineMiddle Agedmedicine.diseaseGiant cell arteritisSurgeryFemalesense organsNeurology (clinical)NeurosurgerybusinessVasculitisNeurosurgical review
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Early auditory evoked potentials (EAEP) in vertebral basilar insufficiency

1979

Stimulation with a short tone pip elicits an acoustic nerve compound action potential (I) and different waves (II--VII) in the inital 10 ms. Seven waves have been studied in 40 control subjects and five waves in 12 patients with vertebral-basilar insufficiency. Abnormalities of the different waves were observed at levels such as cochlea and/or acoustic nerve, medulla, caudal pons, rostral pons, and midbrain. The recording of early auditory evoked potentials (EAEP) is a noninvasive method of confirming impairment of the auditory pathway caused by a reduced vascular supply of vertebral and basilar arteries.

AdultMaleVertebral basilar insufficiencyStimulationMidbrainVertebrobasilar InsufficiencymedicineHumansPharmacology (medical)Vertebrobasilar insufficiencyBiological PsychiatryMedullaCochleaAgedbusiness.industryGeneral MedicineAnatomyMiddle Agedmedicine.diseasePonsCompound muscle action potentialPsychiatry and Mental healthAcoustic StimulationEvoked Potentials AuditoryFemalesense organsbusinessArchiv f�r Psychiatrie und Nervenkrankheiten
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