Search results for "Normal"

showing 10 items of 2571 documents

Patient-reported impact of Charcot-Marie-Tooth disease: protocol for a real-world digital lifestyle study

2021

Abstract Background Charcot-Marie-Tooth disease (CMT) is a rare, chronic, progressive motor and sensory neuropathy that affects the peripheral nervous system, leading to progressive, predominantly distal muscle weakness, atrophy, sensory loss and progressive limb dysfunction. As with many rare diseases, there is a lack of patient-reported data with which to understand and address patient needs. This study aims to explore the real-world impact of CMT from the patient perspective. Methods This is a prospective, digital lifestyle study of at least 2,000 people with CMT, >18 years, resident in the following countries: France, Germany, Italy, Spain, the UK and the USA. Participants will be re…

Malecongenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtyDemographicsDiseaseUnmet needs03 medical and health sciencesTooth disease0302 clinical medicinePhysical medicine and rehabilitationCharcot-Marie-Tooth DiseaseMedicineHumans030212 general & internal medicineobservationalPatient Reported Outcome MeasuresProspective StudiesLife StyleSelection (genetic algorithm)Protocol (science)business.industryIdentifierpatient-reported outcomesinternationalburden of illnessObservational studyFemaleNeurology (clinical)business030217 neurology & neurosurgery
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ABO Blood Group and Inhibitor Risk in Severe Hemophilia A Patients: A Study from the Italian Association of Hemophilia Centers

2021

AbstractConsidering the profound influence exerted by the ABO blood group system on hemostasis, mainly through the von Willebrand factor and factor VIII (FVIII) complex, we have conducted a study evaluating the possible role of blood type on the risk of inhibitor development in hemophilia A. A total of 287 consecutive Caucasian patients with severe hemophilia A (202 without FVIII inhibitors and 85 with FVIII inhibitors) followed at seven Italian Hemophilia Treatment Centers belonging to the Italian Association of Hemophilia Centers (AICE) were included in the study. A higher prevalence of O blood group was detected in patients without inhibitors as compared in inhibitor patients (55 vs. 30.…

Malecongenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtyHemophilia ASevere hemophilia AABO Blood-Group SystemVon Willebrand factorhemic and lymphatic diseasesInternal medicineABO blood group systemABO blood group; hemophilia; inhibitors; risk factorshemophiliainhibitorsHumansMedicinerisk factorsIn patientBlood typebiologybusiness.industryABO blood groupHematologyinhibitorItalyHemostasisbiology.proteinFemaleCardiology and Cardiovascular Medicinebusiness
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The risk of recurrent cardiovascular events in patients with increased plasma homocysteine levels is reduced by short but not long-term therapy with …

2006

Hyperhomocysteinemia is considered an independent risk factor for atherosclerosis, atherothrombosis and Venous ThromboEmbolism (VTE) [1], [2] and [3]. Normal total plasma homocysteine concentrations range from 5 to 15 μmol/L in the fasting state. Hyperhomocysteinemia is classified as moderate (homocysteine concentration, 15 to 30 μmol/L), intermediate (> 30 to 100 μmol/L), and severe (> 100 μmol/L) on the basis of concentrations measured during fasting. Although severe hyperhomocysteinemia is rare, mild hyperhomocysteinemia occurs in approximately 5% to 7% of the general population. In this case, patients are typically asymptomatic until the third or fourth decade of life when premature Cor…

Malecongenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtyHyperhomocysteinemiaTime FactorsHomocysteinePopulationHyperhomocysteinemiaGastroenterologyAsymptomaticchemistry.chemical_compoundFolic AcidRecurrenceRisk FactorsInternal medicineMedicineHumansIn patientRisk factoreducationHomocysteineAgededucation.field_of_studybusiness.industrynutritional and metabolic diseasesHematologyMiddle Agedmedicine.diseaseB vitaminsEndocrinologyTreatment OutcomechemistryCardiovascular DiseasesVitamin B ComplexPlasma homocysteineFemalemedicine.symptombusinessThrombosis research
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The effects of a number of short-term exogenous stimuli on pineal serotonin-N-acetyltransferase activity in rats

1984

The present study deals with the question as to what extent the sympathetically innervated rat pineal gland is affected by a number of short-term exogenous stimuli given during day-time, as assessed by measuring pineal serotonin-N-acetyltransferase activity (NAT) which is directly proportional to melatonin formation. In male Sprague-Dawley rats kept under LD 12:12 pineal NAT was statistically significantly depressed by physical immobilization for 2 hours, swimming for 15 min in water of 10 and 30 degrees C, exposure for 2 hours to cold (5 degrees C) or heat (40 degrees C), noise (90 db) for 2 hours and hunger for 17 hours. An increase in NAT was noted after swimming for 15 min in water of 2…

Maleendocrine systemmedicine.medical_specialtyFood deprivationHot TemperatureArylamine N-AcetyltransferaseHypoglycemiaBiologyPineal GlandThirstRat Pineal GlandImmobilizationAcetyltransferasesStress PhysiologicalInternal medicinemedicineAnimalsInsulinSwimmingBiological PsychiatryNormal rangeAnestheticsWater DeprivationRats Inbred StrainsPhysical Immobilizationmedicine.diseaseHypoglycemiaRatsCold TemperaturePsychiatry and Mental healthEndocrinologyMelatonin formationNeurologyNeurology (clinical)medicine.symptomSerotonin N-acetyltransferase activityFood DeprivationNoiseJournal of Neural Transmission
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International Normalized Ratio and Mortality Risk in Acute Heart Failure and Nonvalvular Atrial Fibrillation Patients Receiving Vitamin K Antagonists

2019

Introduction and objectives: Heart failure patients with nonvalvular atrial fibrillation (NVAF) on treatment with vitamin K antagonists (VKA) often have suboptimal international normalized ratio (INR) values. Our aim was to evaluate the association between INR values at admission due to acute heart failure and mortality risk during follow-up. Methods: In this observational study, we retrospectively assessed INR on admission in 1137 consecutive patients with acute heart failure and NVAF who were receiving VKA treatment. INR was categorized into optimal values (INR = 2-3, n = 210), subtherapeutic (INR 3, n = 267). Because INR did not meet the proportional hazards assumption for mortality, res…

Maleendocrine systemmedicine.medical_specialtyTime FactorsVitamin KHeart failure030204 cardiovascular system & hematologyVitamin kRisk Assessment03 medical and health sciences0302 clinical medicineRisk FactorsInterquartile rangeCause of DeathThromboembolismhealth services administrationMean Survival TimeInternal medicineAtrial FibrillationmedicineHumansheterocyclic compoundsInternational Normalized Ratiocardiovascular diseasesInternational normalized ratioNormal rangeAgedRetrospective StudiesHeart Failurebusiness.industryIncidencefungiAnticoagulantsAtrial fibrillationGeneral MedicinePrognosismedicine.diseaseAtrial fibrillationSurvival RateSpainHeart failureAcute DiseaseCardiologyFemaleObservational studybusinessFollow-Up StudiesRevista Española de Cardiología (English Edition)
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Patterns of male-specific inter-population divergence in Europe, West Asia and North Africa

2000

summary We typed 1801 males from 55 locations for the Y-specific binary markers YAP, DYZ3, SRY "!)$" and the (CA)n microsatellites YCAII and DYS413. Phylogenetic relationships of chromosomes with the same binary haplotype were condensed in seven large one-step networks, which accounted for 95% of all chromosomes. Their coalescence ages were estimated based on microsatellite diversity. The three largest and oldest networks undergo sharp frequency changes in three areas. The more recent network 3‐1A clearly discriminates between Western and Eastern European populations. Pairwise Fst showed an overall increment with increasing geographic distance but with a slope greatly reduced when compared …

MalehaplotypePopulation geneticsVariation (Genetics)phylogenyAfrica NorthernModelsY Chromosomegenetic variabilitypopulation dynamicsNorthernDinucleotide RepeatsGenetics (clinical)education.field_of_studyPhylogenetic treeGeographyarticlechromosome analysislinguisticsStatisticalEastern europeanEuropeGeographypriority journalMicrosatelliteWesternmarker geneAsiaEvolutionPopulationPopulationmicrosatellite DNA; article; Asia; chromosome analysis; controlled study; Europe; genetic variability; geographic distribution; haplotype; human; linguistics; male; marker gene; normal human; North Africa; phylogeny; population dynamics; priority journal; Africa Northern; Asia Western; Dinucleotide Repeats; Europe; Evolution Molecular; Genetics Population; Geography; Haplotypes; Humans; Male; Microsatellite Repeats; Models Genetic; Models Statistical; Variation (Genetics); Y ChromosomeY chromosomeEvolution MolecularGeneticGeographical distancegeographic distributionAsia WesternGeneticsHumanscontrolled studyhumannormal humaneducationModels StatisticalModels GeneticHaplotypeGenetic VariationMolecularNorth AfricaSettore BIO/18 - GeneticaGenetics PopulationHaplotypesEvolutionary biologyAfricamicrosatellite DNAMicrosatellite Repeats
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The new clinical standard of integrated quadruple stress echocardiography with ABCD protocol

2018

Abstract Background The detection of regional wall motion abnormalities is the cornerstone of stress echocardiography. Today, stress echo shows increasing trends of utilization due to growing concerns for radiation risk, higher cost and stronger environmental impact of competing techniques. However, it has also limitations: underused ability to identify factors of clinical vulnerability outside coronary artery stenosis; operator-dependence; low positivity rate in contemporary populations; intermediate risk associated with a negative test; limited value of wall motion beyond coronary artery disease. Nevertheless, stress echo has potential to adapt to a changing environment and overcome its c…

Malelcsh:Diseases of the circulatory (Cardiovascular) systemmedicine.medical_specialtyCoronary flow reserveAsynergyLeft ventricular contractilityReview030204 cardiovascular system & hematologyAnterior Descending Coronary ArteryWall motion abnormalitiesMultimodal ImagingSensitivity and SpecificityCoronary artery diseaseB-lines03 medical and health sciences0302 clinical medicineCoronary CirculationInternal medicinemedicineStress EchocardiographyHumansRadiology Nuclear Medicine and imaging030212 general & internal medicineForceAgedAngiologyHeart Failurebusiness.industryCoronary StenosisCoronary flow reserveStroke VolumeLung waterGeneral MedicineBlood flowMiddle Agedmedicine.diseaseMyocardial ContractionStress echocardiographyStenosisUltrasonography Doppler PulsedEchocardiographylcsh:RC666-701Practice Guidelines as TopicCardiologyFemaleCardiology and Cardiovascular MedicinebusinessEchocardiography StressCardiovascular Ultrasound
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Mortality of Children Under Five and Prevalence of Newborn Congenital Anomalies in Relation to Macroeconomic and Socioeconomic Factors in Latvia

2012

Background. Mortality of infants and children younger than 5 years is a globally recognized and broad national welfare indicator. Scientific literature has data on the correlation of mortality indicators with macroeconomic indicators. It is important to study the associations between prevalence and mortality indicators and socioeconomic factors, since deaths from congenital anomalies account for approximately 25%–30% of all deaths in infancy. The aim of the study was to analyze the overall trend in mortality of infants and young children aged 0 to 4 years in relation to macroeconomic factors in Latvia and prevalence of congenital anomalies in newborns in relation to socioeconomic factors. M…

Malemedia_common.quotation_subjectmortality of children under five; infant mortality; macroeconomic factors; congenital anomalies; correlationContext (language use)Congenital AbnormalitiesPrevalencePer capitaHumansMedicineSocioeconomic statusmedia_commonUnder-fivebusiness.industryInfant NewbornInfantGeneral MedicineLatviaInfant mortalityChild mortalitySocioeconomic FactorsChild PreschoolChild MortalityUnemploymentFemalebusinessWelfareDemographyMedicina; Volume 47; Issue 12; Pages: 98
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Occurrence of bone tissue in the human penis.

1953

Malemedicine.anatomical_structurebusiness.industryHuman penisUrologymedicineHumansAnatomyBone tissuebusinessBone and BonesCongenital AbnormalitiesPenisThe Journal of urology
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Physical activity and motor function in children and adolescents with neuromuscular disorders.

2013

Purpose To determine physical function and activity level in children and adolescents with neuromuscular disorders. Methods Seventeen children and adolescents aged 10 to 18 years with neuromuscular disorders who were ambulatory participated. Physical function was measured using the Hammersmith Motor Ability Scale and the Six-Minute Walk Test. Physical activity (PA) level was measured using the SenseWear Armband activity monitor. Activities were recorded using a questionnaire. Results were compared with previous data published for peers who are healthy and public recommendations. Results Hammersmith Motor Ability Scale scores were lower than normal values. Results of the Six-Minute Walk Test…

Malemedicine.medical_specialtyAdolescentCross-sectional studyPhysical activityPhysical Therapy Sports Therapy and RehabilitationNormal valuesPhysical functionMotor ActivityMotor functionSeverity of Illness IndexBody Mass IndexSurveys and QuestionnairesSeverity of illnessmedicineHumansChildbusiness.industryNeuromuscular DiseasesCross-Sectional StudiesMotor SkillsPediatrics Perinatology and Child HealthAmbulatoryPhysical therapyExercise TestFemalebusinessBody mass indexPediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association
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