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showing 10 items of 4295 documents

Homozygous familial hypercholesterolemia with severe involvement of the aortic valve—A sibling‐controlled case study on the efficacy of lipoprotein a…

2020

Background Homozygous familial hypercholesterolemia (hoFH) can cause severe atherosclerotic cardiovascular disease (ASCVD) in early infancy. Diagnosis and initiation of effective lipid-lowering therapy (LLT) are recommended as early as possible to prevent ASCVD-related morbidity and mortality. Methods The clinical courses of a pair of siblings with an identical hoFH genotype, who exhibited major similarities of their clinical phenotype were analyzed in a case-control fashion including the family. Results The older sibling was diagnosed with hoFH at the age of 4. Untreated LDL-cholesterol (LDL-C) was 17 mmol/L (660 mg/dL). LLT including lipoprotein apheresis (LA) was initiated and has been s…

AdultMaleAortic valvemedicine.medical_specialtyGenotypeBiopsyLipoproteinsFamilial hypercholesterolemia030204 cardiovascular system & hematologyHyperlipoproteinemia Type II03 medical and health scienceschemistry.chemical_compound0302 clinical medicineEzetimibeInternal medicineXanthomatosisHumansMedicineSiblingChildAortaRetrospective StudiesFamily Healthbusiness.industryCholesterolSiblingsPCSK9HomozygoteMechanical Aortic ValveCholesterol LDLHematologyGeneral Medicinemedicine.diseaseLipidsPhenotypemedicine.anatomical_structurechemistryEchocardiographyAortic ValveCase-Control StudiesChild PreschoolAortic valve stenosisBlood Component RemovalFemalelipids (amino acids peptides and proteins)Proprotein Convertase 9business030215 immunologymedicine.drugJournal of Clinical Apheresis
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Apolipoprotein E Genotypic Frequencies Among Down Syndrome Patients Imply Early Unsuccessful Aging for ApoE4 Carriers

2007

Down syndrome (DS) might be considered a model for unsuccessful and early aging, possibly accelerated for those who carry the APOE4 allele associated with common age-related diseases, e.g., Alzheimer's disease and a poor prognosis after acute myocardial infarction, causing lower ApoE4 frequencies among the very old in general populations. We compared ApoE genotypic frequencies found for healthy adults (n = 211, age 90) to those found for DS patients (n = 106, mean age 9 years), all living in western Sicily. We found that the frequency of the ApoE23 genotype increased with age among the healthy adults (8.5%, 6.4%, 19.7%; p = 0.024) while ApoE34 frequency decreased (16.1%, 12.6%, 4.1%; p = 0.…

AdultMaleApolipoprotein EAgingmedicine.medical_specialtyPathologyDown syndromeAdolescentGenotypeChromosomes Human Pair 21Down syndromeApolipoprotein E4DiseaseBiologyGastroenterologySettore MED/38 - Pediatria Generale E SpecialisticaInternal medicineGenotypemedicineHumansSettore MED/05 - Patologia ClinicaMyocardial infarctionChildapolipoprotein EInfantSequence Analysis DNAPrognosismedicine.diseaseGenotype frequencyAgeingChild PreschoolFemaleGeriatrics and GerontologyChromosome 21Rejuvenation Research
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Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical …

2008

Abstract The objective of this study was to evaluate the long-term clinical benefits and safety of recombinant human arylsulfatase B (rhASB) treatment of mucopolysaccharidosis type VI (MPS VI: Maroteaux-Lamy syndrome), a lysosomal storage disease. Fifty-six patients derived from 3 clinical studies were followed in open-label extension studies for a total period of 97–260 Weeks. All patients received weekly infusions of rhASB at 1mg/kg. Efficacy was evaluated by (1) distance walked in a 12-minute walk test (12MWT) or 6-minute walk test (6MWT), (2) stairs climbed in the 3-minute stair climb (3MSC), and (3) reduction in urinary glycosaminoglycans (GAG). Safety was evaluated by compliance, adve…

AdultMaleArylsulfatase Bmedicine.medical_specialtyAdolescentN-Acetylgalactosamine-4-SulfataseEndocrinology Diabetes and MetabolismMucopolysaccharidosis type VIWalkingMotor ActivityPlaceboBiochemistryEndocrinologyInternal medicineGeneticsmedicineHumansChildAdverse effectMolecular BiologyGlycosaminoglycansMucopolysaccharidosis VIbusiness.industryMucopolysaccharidosis VIEnzyme replacement therapymedicine.diseaseRecombinant ProteinsSurgeryClinical trialMaroteaux–Lamy syndromeTreatment OutcomeChild PreschoolFemalebusinessFollow-Up StudiesMolecular Genetics and Metabolism
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Does Childhood Temperamental Activity Predict Physical Activity and Sedentary Behavior over a 30-Year Period? Evidence from the Young Finns Study

2016

We examined associations between childhood temperamental activity, physical activity (PA), and television (TV) viewing over a 30-year period. The participants (1220 boys and 1237 girls) were aged 3, 6, 9, and 12 years in 1980 and were followed until 2011. Temperamental activity was evaluated by participants' mothers at baseline. The PA was assessed based on maternal ratings of the child from ages 3 to 6 and via self-report age from the age of 9 across all measurements. TV viewing was assessed using self-reports taken from 2001 to 2011. The associations between temperamental activity and the level and change of PA and TV viewing were determined using linear growth modeling stratified by gend…

AdultMaleBODY-COMPOSITIONAdolescent515 Psychologymedia_common.quotation_subjectPhysical activityMothersHYPERACTIVITYADULTHOODAGED 0-4 YEARSDevelopmental psychologyAge and gender03 medical and health sciencesYoung AdultTRACKING0302 clinical medicinePersonalityHumans030212 general & internal medicineTv viewingChildTemperamentExerciseApplied PsychologyFinlandmedia_commonTemperamental activityASSOCIATIONSPERSONALITYPhysical activityFollow-upCARDIOVASCULAR RISK030229 sport sciencesSedentary behaviorHealth psychologySedentary behaviorChild PreschoolFemaleTelevisionSelf ReportHEALTHPsychologyLinear growthDemographyFollow-Up Studies
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PREVALENCE OF ANTIBODIES ANTI-BARTONELLA HENSELAEIN WESTERN SICILY: CHILDREN, BLOOD DONORS, AND CATS

2011

To evaluate seroprevalence of B. henselae infection both in Sicilian children and healthy blood donors. Furthermore, circulation of Bartonella in the natural reservoir was also studied. Two hundred forty-three children, living in Sicily (Palermo), affected by various diseases, without clinical features suggesting B. henselae infection, together with 122 healthy blood donors were serologically investigated for IgG and IgM antibodies by indirect fluorescent antibody test (IFAT). One hundred twenty stray and 62 pet cats were also analyzed only for IgG. Among children 25.1% had IgG antibodies to B. henselae; 18.5% showed a titer 1:64, 2.4% 1:128, 2.4% 1:256, 0.8% 1:512, 0.4% 1:1024, and 0.4% 1:…

AdultMaleBartonellaAdolescentClinical BiochemistryImmunologyBlood DonorsYoung AdultmedicineAnimalsHumansImmunology and AllergySeroprevalenceChildFluorescent Antibody Technique IndirectSicilyDirect fluorescent antibodyAntigens BacterialBartonella henselaeBartonella henselaeCATSbiologyInfantCat-scratch diseaseMiddle Agedbiology.organism_classificationmedicine.diseaseAntibodies BacterialVirologyMedical Laboratory TechnologyTiterImmunoglobulin MChild PreschoolImmunoglobulin GImmunologyCatsbiology.proteinFemaleAntibodyJournal of Immunoassay and Immunochemistry
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Balantidiasis in Aymara children from the northern Bolivian Altiplano.

1998

Balantidium coli infection was coprologically studied in 2,124 Aymara children 5-19 years of age from the schools of 22 communities of the northern Bolivian Altiplano over a five-year period. Infection with B. coli was found in 11 of the communities surveyed, with prevalences of 1.0-5.3% (overall prevalence=1.2%). The prevalences observed are some of the highest reported and did not differ significantly among the various age groups or between boys and girls. These prevalences, the apparent absence of symptoms or signs of illness due to this parasite in the schoolchildren surveyed at the time of stool sampling, and the consistency of stool samples of the infected students suggest that they a…

AdultMaleBoliviaAdolescentSwineAge groupsVirologymedicinePrevalenceAnimalsHumansBalantidiasisProtozoal diseaseChildBalantidium colibiologyBalantidiasisbiology.organism_classificationmedicine.diseaseInfectious DiseasesEl NiñoChild PreschoolParasitologyFemaleAsymptomatic carrierDemographyThe American journal of tropical medicine and hygiene
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A population-based coprological study of human fascioliasis in a hyperendemic area of the Bolivian Altiplano

1997

The community of Chijipata Alta, at an altitude of 3850 m, near the southern coast of Lake Titicaca in the Northern Altiplano of Bolivia, was surveyed for human fascioliasis. The global prevalence (66.7 %) and intensity (eggs per gram of faeces - epg: range: 24-4440; arithmetic mean: IooI; geometric mean: 390) proved to be the highest known in the world by means of coprological techniques. These results suggest the existence of highly hyperendemic subzones among the large human fascioliasis-endemic zone of the Bolivian Northern Altiplano. Despite the decrease in prevalence and intensity from children (75.0%, 24-4440 epg) to adults (41.7%, 144-864 epg), our findings show that in an hyperende…

AdultMaleBoliviaFascioliasisVeterinary medicineAdolescentRange (biology)HelminthiasisFecesAge DistributionAltitudeEnvironmental protectionparasitic diseasesPrevalencemedicineAnimalsHumansFasciola hepaticaChildParasite Egg CountEggs per gramFecesAgedDisease ReservoirsbiologyPublic Health Environmental and Occupational HealthMiddle Agedbiology.organism_classificationmedicine.diseaseFasciolaInfectious DiseasesGeographyChild PreschoolFemaleParasitologyGeometric meanArithmetic meanTropical Medicine and International Health
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Soil-transmitted helminth infections at very high altitude in Bolivia

2001

A cross-sectional study of soil-transmitted helminthiases in the Northern Bolivian Altiplano was carried out over the 6-year period 1992-97. Prevalences, intensities and associations were analysed from coprological results obtained in 31 surveys (28 in schools and 3 in individuals of all age-groups) performed in 24 Aymara communities located between the city of La Paz and Lake Titicaca, at an altitude of 3800-4200 m. Ascaris lumbricoides and Trichuris trichiura were detected, with local prevalences in the range 1.2-28.0% and 0.0-24.0%, respectively. Significant differences in prevalence rates of trichuriasis were detected, with highest prevalences in male schoolchildren and in subjects aged…

AdultMaleBoliviaVeterinary medicineAdolescentCross-sectional studyTrichuriasisHelminthiasisPrevalenceBiologySoilAge DistributionAltitudeAscariasisPrevalencemedicineHumansSex DistributionChildEggs per gramAgedAltitudePublic Health Environmental and Occupational HealthInfantGeneral MedicineMiddle Agedmedicine.diseasebiology.organism_classificationCross-Sectional StudiesInfectious DiseasesChild PreschoolTrichuris trichiuraFemaleParasitologyAscaris lumbricoidesTransactions of the Royal Society of Tropical Medicine and Hygiene
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Burden of disease assessment with summary measures of population health for the Region of Valencia, Spain: a population-based study

2011

Abstract Background and objective An important input to decision-making and health planning is a consistent and comparative description of the population health status. The purpose of this study was to describe the burden of disease in the Region of Valencia (Spain). Material and methods Disability-adjusted life years (DALYs) were calculated and divided into years of life lost (YLLs) and years lived with disability (YLDs). Using death registry data and Valencian population estimates in 2008, we calculated the number of deaths and YLLs. YLDs were based on age- and sex-specific data for countries of the EURO-A subregional level (which includes the Region of Valencia) from the Global Burden of…

AdultMaleBurden of diseaseAdolescentSense organHealth StatusPopulationPopulation healthValencianYoung AdultAge DistributionLife ExpectancyCost of IllnessCause of DeathHumansMedicineDisabled PersonsSex DistributionChildeducationDiagnosis-Related GroupsDisease burdenDepression (differential diagnoses)AgedAged 80 and overeducation.field_of_studybusiness.industryInfant NewbornInfantGeneral MedicineMiddle Agedlanguage.human_languageYears of potential life lostSpainChild PreschoolChronic DiseaselanguageFemalebusinessDemographyMedicina Clínica
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New data from the Italian National Register of Congenital Coagulopathies, 2016 Annual Survey

2018

BACKGROUND: In Italy, the National Register of Congenital Coagulopathies (NRCC) collects epidemiological and therapeutic data from patients affected by haemophilia A (HA), haemophilia B (HB), von Willebrand’s disease (vWD) and other rare coagulation disorders. Here we present data from the 2016 annual survey. MATERIALS AND METHODS: Data are provided by the Italian Haemophilia Centres, on a voluntary basis. Information flows from every Centre to a web-based platform of the Italian Association of Haemophilia Centres, shared with the Italian National Institute of Health, in accordance with current privacy laws. Patients are classified by diagnosis, disease severity, age, gender and treatment-r…

AdultMaleCanadaAdolescentAdolescent Adult Aged Blood Coagulation Factors Canada Child Coagulation Protein Disorders Factor IX Factor VIII Female France HIV Infections Hemophilia A Hemophilia B Hepatitis CHumans Infant Infant Newborn Italy Male Middle Aged Prevalence Registries Surveys and Questionnaires United Kingdom von Willebrand DiseasesHIV InfectionsCoagulation Protein DisordersHemophilia AHemophilia BFactor IXhemic and lymphatic diseasesSurveys and QuestionnairesPrevalenceHumansRegistriesChildAgedFactor VIIIInfant NewbornInfantMiddle AgedHepatitis CBlood Coagulation FactorsUnited Kingdomvon Willebrand DiseasesItalyChild PreschoolFemaleOriginal ArticleFrance
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