Search results for "value"

showing 10 items of 5321 documents

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

2010

Summary Using exome sequencing, we identified a p.R191Q amino acid change in the valosin-containing protein ( VCP ) gene in an Italian family with autosomal dominantly inherited amyotrophic lateral sclerosis (ALS). Mutations in VCP have previously been identified in families with Inclusion Body Myopathy, Paget disease, and Frontotemporal Dementia (IBMPFD). Screening of VCP in a cohort of 210 familial ALS cases and 78 autopsy-proven ALS cases identified four additional mutations including a p.R155H mutation in a pathologically proven case of ALS. VCP protein is essential for maturation of ubiquitin-containing autophagosomes, and mutant VCP toxicity is partially mediated through its effect on…

Adenosine TriphosphataseMaleCell Cycle ProteinsUBQLN2Cohort Studies0302 clinical medicineReference ValuesValosin Containing ProteinCell Cycle ProteinReference ValueAmyotrophic lateral sclerosisExome sequencingAdenosine TriphosphatasesGenetics0303 health sciencesGeneral NeuroscienceExonsMiddle AgedPedigree3. Good healthMultisystem proteinopathyFemaleSettore MED/26 - NeurologiaCase-Control StudieChromosomes Human Pair 9HumanFrontotemporal dementiaNeuroscience(all)Valosin-containing proteinExonBiologyProtein degradationTARDBPArticle03 medical and health sciencesmedicineHumansAged030304 developmental biologyAmyotrophic lateral sclerosis familial ALS exome sequencingNeuroscience (all)business.industryAmyotrophic Lateral Sclerosismedicine.diseaseAmino Acid SubstitutionCase-Control StudiesMutationbiology.proteinCohort Studiebusiness030217 neurology & neurosurgeryAmyotrophic Lateral SclerosiNeuron
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Sonographic biometry of liver and spleen size in childhood.

1983

In 194 healthy children of all ages, sonographic measurements of the liver and spleen were performed on standardized section planes and normal values established. These measurement values showed an approximately linear increase in the course of development and correlated best with the body length. For a rapid orientational evaluation of the liver size, sonographic nomograms of the individual measurements were developed. The spleen size was determined by volume calculation. On the basis of an index of liver size, which was calculated from the individual measurements, a diagram for simultaneous determination of liver and spleen size could be developed. These nomograms permit objective morphom…

AdolescentStatistics as TopicSpleenNormal valuesReference ValuesMedicineHumansRadiology Nuclear Medicine and imagingChildLiver sizeUltrasonographyAnthropometrybusiness.industryUltrasoundInfant NewbornInfantAnatomyNomogramAnthropometrymedicine.anatomical_structureLiverReference valuesChild PreschoolPediatrics Perinatology and Child HealthUltrasonographybusinessSpleenPediatric radiology
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Early management of COPD: Where are we now and where do we go from here? a delphi consensus project

2019

Fabiano Di Marco,1 Piero Balbo,2 Francesco de Blasio,3 Vittorio Cardaci,4 Nunzio Crimi,5 Giuseppe Girbino,6 Girolamo Pelaia,7 Pietro Pirina,8 Pietro Roversi,9 Pierachille Santus,10,11 Nicola Scichilone,12 Alessandro Vatrella,13 Patrizio Pasqualetti,14 Mauro Carone15 1Department of Health Sciences, University of Milan, Respiratory Unit, Papa Giovanni XXIII Hospital, Bergamo, Italy; 2SC Malattie dell’Apparato Respiratorio, AOU Maggiore della Carità, Novara, Italy; 3Respiratory Medicine and Pulmonary Rehabilitation Section, Clinic Center S.p.A. Private Hospital, Department of Medicine and Health Sciences “V Tiberio”, University of Molise, Campobasso, It…

Adrenergic beta-2 Receptor AgonistPulmonary and Respiratory Medicinedrug combinationspractice guidelines as topicConsensuPredictive Value of Testbronchodilator therapy; dyspnea; italy; respiratory symptoms; adrenal cortex hormones; adrenergic beta-2 receptor agonists; adult; bronchodilator agents; consensus; delphi technique; drug combinations; early diagnosis; early medical intervention; evidence-based medicine; female; humans; italy; male; middle aged; muscarinic antagonists; practice guidelines as topic; predictive value of tests; pulmonary disease; chronic obstructive; surveys and questionnaires; treatment outcomeadrenal cortex hormonesSettore MED/10 - Malattie Dell'Apparato RespiratorioInternational Journal of Chronic Obstructive Pulmonary DiseasedyspnoeaAdrenal Cortex HormonePulmonary Disease Chronic ObstructivemaleDrug CombinationEarly Diagnosiitalymiddle agedSurveys and Questionnairehumansmuscarinic antagonistsBronchodilator AgentOriginal Researchearly medical interventionpulmonary diseaselcsh:RC705-779chronic obstructiveHealth Policyadultbronchodilator agentsEnvironmental and Occupational Healthrespiratory symptomsbronchodilator therapylcsh:Diseases of the respiratory systemdyspneaBronchodilator therapy; Dyspnea; Italy; Respiratory symptoms; Pulmonary and Respiratory Medicine; Health Policy; Public Health Environmental and Occupational Healthpredictive value of testsMuscarinic AntagonistfemaleconsensusRespiratory symptomsurveys and questionnairestreatment outcomePublic Healthdelphi techniqueadrenergic beta-2 receptor agonistsevidence-based medicineHumanearly diagnosis
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Postural Balance in a Random Sample of 7,979 Subjects Aged 30 Years and Over

2005

<i>Background:</i> Reliable normative data for force platform measurements of postural balance have not been available. <i>Methods:</i> Data on postural balance were collected from a representative nationwide sample of a Finnish population aged ≧30 years (n = 7,979). As part of a comprehensive health survey <i>(Health 2000)</i>, postural balance was measured with the help of a force platform system in four test conditions: normal standing with eyes open and closed (both for 30 s), semi-tandem (20 s) and tandem stand with eyes open (20 s). In addition, balance abilities were also evaluated by a non-instrumented field test. <i>Results:</i> The m…

AdultAged 80 and overMaleGerontologyAgingBalance testMiddle AgedHealth SurveysAge DistributionSex FactorsReference ValuesPostural BalanceHumansNormativeFemaleForce platformSex DistributionGeriatrics and GerontologyPsychologyPostural BalanceFinlandAgedBalance (ability)Gerontology
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The immunohistochemical peptidergic expression of leptin is associated with recurrence of malignancy in laryngeal squamous cell carcinoma.

2013

Leptin is a peptide that plays a key role in the control of satiety, energy expenditure, food intake and various reproductive processes. In the last years, the expression of leptin had been found in malignant cells of various origins. The aim of this study is to evaluate leptin expression in human laryngeal squamous cell carcinoma (SCC) and to investigate its possible role in predicting prognosis. Leptin expression was determined by immunohistochemistry in pathological and healthy tissue specimens from 24 patients with laryngeal SCC. Specimens were stained with an anti-leptin antibody. All measurements were performed using a computer-based image analysis system and scale of staining intensi…

AdultAged 80 and overMaleLeptinSettore BIO/17 - Istologiadigestive oral and skin physiologyNeuropeptidesOtorhinolaryngology2734 Pathology and Forensic MedicineMiddle AgedPrognosisImmunohistochemistryMalignancy recurrencePredictive Value of TestsCarcinoma Squamous CellHumansLaryngeal carcinomaNeoplasm Recurrence LocalLaryngeal carcinoma; Leptin; Malignancy recurrenceLaryngeal NeoplasmsAgedHead and Neck
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Is sentinel lymph node biopsy more accurate than axillary dissection on staging the nodal involvement in breast cancer patients?

2007

Today evaluation of axillary involvement can be routinely performed with the technique of sentinel lymph node biopsy (SLNB). One of the greatest advantages of SLNB is the nearly total absence of local postoperative complications. It is important to understand whether SLNB is better than axillary lymph-node dissection (ALND) for staging axillary nodal involvement. The aim of the study was to evaluate the axillary staging accuracy comparing three different methods: axillary dissection, sentinel node biopsy with the traditional 4-6 sections and sentinel node biopsy with complete analysis of the lymph node. 527 consecutive patients (525 females and 2 males) with invasive breast cancer < or = 3 …

AdultAged 80 and overMaleSentinel Lymph Node Breast CancerAnalysis of VarianceSentinel Lymph Node BiopsyBreast NeoplasmsMiddle AgedMastectomy SegmentalSensitivity and SpecificityBreast Neoplasms MalePredictive Value of TestsLymphatic MetastasisAxillaHumansLymph Node ExcisionFemaleAgedNeoplasm Staging
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Usefulness of N-terminal pro-B-type natriuretic peptide levels in predicting residual myocardial ischemia in patients with ST elevation acute myocard…

2007

N-terminal pro-b-type natriuretic peptide (NT pro-BNP) is a neurohormone synthesized predominantly in ventricular myocardium. In patients with symptoms of heart failure, elevation in NT pro-BNP accurately identifies ventricular dysfunction. However, NT pro-BNP levels are not specific for ventricular dysfunction in patients who do not have overt symptoms of heart failure, suggesting that other cardiac processes such as myocardial ischemia may also cause elevation in NT pro-BNP. The study was aimed to determine whether NT pro-BNP elevations are associated with myocardial ischemia.One hundred and thirty patients (104 males, 26 females, mean age 61+12 years), with ST elevation acute myocardial …

AdultAged 80 and overMaleTomography Emission-Computed Single-PhotonMyocardial InfarctionMyocardial IschemiaOrganotechnetium CompoundsMiddle AgedSensitivity and SpecificityPeptide FragmentsElectrocardiographyLogistic ModelsOrganophosphorus CompoundsROC CurvePredictive Value of TestsNatriuretic Peptide BrainExercise TestOdds RatioHumansFemaleRadiopharmaceuticalsBiomarkersAgedEchocardiography StressRetrospective Studies
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Periodontal morphological microcirculation in Oral Lichen Planus

2008

This study aimed at evaluating possible differences in the vascular pattern (of periodontal mucosa microcirculation) between healthy patients and patients suffering from PLP (periodontal lichen planus). Fifty-four patients (27 patients suffering from PLP and 27 healthy patients) were examined by means of videocapillaroscopy. The following area was examined for each patient: periodontal mucosa corresponding to 1.1 and 2.1. The following parameters were analyzed on every capillaroscopic image: capillary loop length, loop diameter, capillary tortuosity, capillary density, avascular areas, possible microhaemorrhages, distinctive morphology. The results obtained using videocapillaroscopic softwa…

AdultAged 80 and overMaleperiodontal microcirculation oral lichen planusGingivanMiddle AgedCapillariesPredictive Value of TestsDisease ProgressionBlood VesselsHumansFemalePeriodontal DiseasesAgedLichen Planus Oral
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Epinephrine and Norepinephrine Pattern in Elderly Patients with Borderline and Established Hypertension

1989

To evaluate the activity of sympathetic system and of plasm renin in elderly patients with borderline (BH) and established essential hypertension (EH), 31 BH mean age 38 years and 30 EH, mean age 39 years; 15 BH, mean age 66 years, and 15 EH, mean age 68 years, were studied at rest and after dynamic exercise. At the same time blood pressure and heart rate were automatically recorded, while blood samples were collected for PRA and plasma epinephrine (E) and norepinephrine (NE) assays. Plasma E levels showed no significant differences between the groups examined at rest. Nevertheless, young BH had higher plasma E levels than young EH after stress and elderly BH showed plasma E levels higher t…

AdultAgingmedicine.medical_specialtyEpinephrineEssential hypertensionPlasma renin activityNorepinephrine (medication)NorepinephrineReference ValuesInternal medicineReninHeart rateInternal MedicinemedicineHumansAgedbusiness.industryMean ageMiddle Agedmedicine.diseaseEndocrinologyEpinephrineBlood pressureHypertensionPlasma epinephrinebusinessmedicine.drugClinical and Experimental Hypertension. Part A: Theory and Practice
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Accuracy and accommodation capability of a handheld autorefractor

2000

Purpose: To determine the accuracy of measurement by the Nikon Retinomax handheld autorefractor and its ability to relax accommodation. Setting: Pediatric Section, Department of Ophthalmology, University of Mainz, Germany. Methods: To perform a series of comparative measurements, autorefractor readings were obtained on healthy young adults (students) and on children aged 2 to 12 years. The autorefractor readings were compared with subjective refractions of the young adults and with cycloplegic retinoscopy of the children. Results: In adults, the accuracy of the handheld autorefractor measurements was comparable to that of conventional tabletop autorefractors. In children, the autorefractor …

AdultAgingmedicine.medical_specialtygenetic structuresOcular refractionRefraction OcularOcular physiologyReference ValuesOphthalmologymedicineHumansChildDioptreRetinoscopyElectronic Data Processingmedicine.diagnostic_testbusiness.industryVision TestsAutorefractorsAccommodation OcularReproducibility of ResultsCycloplegiaRefractive ErrorsSensory SystemsOphthalmologyAutorefractorChild PreschoolOptometrySurgerymedicine.symptombusinessAccommodationJournal of Cataract and Refractive Surgery
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