Search results for "Bol"

showing 10 items of 18211 documents

Clinical course of sly syndrome (mucopolysaccharidosis type VII).

2016

WOS: 000377110800007

0301 basic medicineAdultMalePediatricsmedicine.medical_specialtyAdolescentMucopolysaccharidosisSly syndromeHepatosplenomegalyMetabolic disordersMucopolysaccharidosis VIIMedical and Health Sciences03 medical and health sciencesYoung Adult0302 clinical medicineHydrops fetalisSurveys and QuestionnairesmedicineGeneticsHumansMedical history1506Clinical geneticsFamily historyPreschoolChildGenetics (clinical)GlucuronidaseGenetics & Hereditybusiness.industryGenotype-Phenotype CorrelationsMucopolysaccharidosis VIIInfantEnzyme replacement therapyBiological Sciencesmedicine.diseaseLysosomal Storage Diseases030104 developmental biologyPhenotypeClinical genetics Genetics Metabolic disordersChild PreschoolFemalemedicine.symptombusiness030217 neurology & neurosurgeryMPS ; lysosomal storage disease ; β-glucuronidase
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Adequate Urinary Iodine Concentration among Infants in the Inland Area of Norway

2021

Considering the importance of iodine to support optimal growth and neurological development of the brain and central nervous system, this study aimed to assess and evaluate iodine status in Norwegian infants. We collected data on dietary intake of iodine, iodine knowledge in mothers, and assessed iodine concentration in mother’s breast milk and in infant’s urine in a cross-sectional study at two public healthcare clinics in the inland area of Norway. In the 130 mother–infant pairs, the estimated infant 24-h median iodine intake was 50 (IQR 31, 78) µg/day. The median infant urinary iodine concentration (UIC) was 146 (IQR 93, 250) µg/L and within the recommended median defined by the World He…

0301 basic medicineAdultMalePediatricsmedicine.medical_specialtyknowledgeIodine intakeschemistry.chemical_elementNutritional Status030209 endocrinology & metabolismUrineBreast milkIodinePublic healthcareWorld healthArticle03 medical and health sciences0302 clinical medicineUrinary iodine concentrationsMedicineHumansTX341-641Infant Nutritional Physiological PhenomenaInland areasIodine intake030109 nutrition & dieteticsNutrition and DieteticsUICMilk HumanNutrition. Foods and food supplybusiness.industryinfantsiodineNorwayDietary intakeInfant NewbornInfanturinary iodine concentrationiodine intakeinland areaBreast FeedingCross-Sectional StudiesVDP::Medisinske Fag: 700::Helsefag: 800chemistryFemaleUrinary iodinebusinessFood Science
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Functional microbiome deficits associated with ageing: chronological age-threshold

2019

Composition of the gut microbiota changes during ageing, but questions remain about whether age is also associated with deficits in microbiome function and whether these changes occur sharply or progressively. The ability to define these deficits in populations of different ages may help determine a chronological age threshold at which deficits occur and subsequently identify innovative dietary strategies for active and healthy ageing. Here, active gut microbiota and associated metabolic functions were evaluated using shotgun proteomics in three well‐defined age groups consisting of 30 healthy volunteers, namely, ten infants, ten adults and ten elderly individuals. Samples from each volunte…

0301 basic medicineAdultMaleProteomicsAgingmedia_common.quotation_subjectPhysiologyGut flora03 medical and health sciences0302 clinical medicineGut bacteriaHumansMetabolomicsMicrobiomeVolunteermedia_commonAgedbiologyMicrobiotaLongevityAge FactorsTryptophanCell BiologyChronological agebiology.organism_classificationHealthy VolunteersAgeing030104 developmental biologyEditorialAgeingIndoleChild PreschoolFemaleMicrobiome030217 neurology & neurosurgeryCohort study
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Impact of immunosuppressive therapy on therapy-neutralizing antibodies in transplanted patients with Fabry disease.

2017

Background Inhibitory antibodies towards enzyme replacement therapy (ERT) are associated with disease progression and poor outcome in affected male patients with lysosomal disorders such as Fabry disease (FD). However, little is known about the impact of immunosuppressive therapy on ERT inhibition in these patients with FD. Methods In this retrospective study, we investigated the effect of long-term immunosuppression on ERT inhibition in male patients with FD (n = 26) receiving immunosuppressive therapy due to kidney (n = 24) or heart (n = 2) transplantation. Results No ERT-naive transplanted patient (n = 8) developed antibodies within follow-up (80 ±72 months) after ERT initiation. Seven (…

0301 basic medicineAdultMalecongenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtyAdolescentmedicine.medical_treatmentGastroenterology03 medical and health sciencesYoung Adult0302 clinical medicineMaintenance therapyInternal medicineInternal MedicineMedicineHumansEnzyme Replacement TherapyRetrospective StudiesKidneybusiness.industrynutritional and metabolic diseasesImmunosuppressionEnzyme replacement therapyMiddle Agedmedicine.diseaseFabry diseaseAntibodies NeutralizingKidney TransplantationTacrolimusTransplantation030104 developmental biologymedicine.anatomical_structureImmunologyPrednisoloneFabry DiseaseHeart Transplantationbusiness030217 neurology & neurosurgeryImmunosuppressive Agentsmedicine.drugJournal of internal medicine
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Watching happy faces potentiates incentive salience but not hedonic reactions to palatable food cues in overweight/obese adults

2019

International audience; ‘Wanting’ and ‘liking’ are mediated by distinct brain reward systems but their dissociation in human appetite and overeating remains debated. Further, the influence of socioemotional cues on food reward is little explored. We examined these issues in overweight/obese (OW/OB) and normal-weight (NW) participants who watched food images varying in palatability in the same time as videoclips of avatars looking at the food images while displaying facial expressions (happy, disgust or neutral) with their gaze directed only toward the food or consecutively toward the food and participants. We measured heart rate (HR) deceleration as an index of attentional/incentive salienc…

0301 basic medicineAdultMalelikingAdolescent030209 endocrinology & metabolismOverweightwantingDevelopmental psychology03 medical and health sciencesFood PreferencesYoung Adult0302 clinical medicineRewardmedicineHumansoverweightPalatabilityObesityOvereatingincentive salienceGeneral PsychologyComputingMilieux_MISCELLANEOUSfacial expressionFacial expressionMotivation030109 nutrition & dieteticsNutrition and DieteticsSocioemotional selectivity theory[SDV.NEU.PC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Psychology and behaviorsocial rewardDisgustIncentive salienceFemaleFrancemedicine.symptomCuesPsychologyFacial electromyography[SDV.AEN]Life Sciences [q-bio]/Food and Nutrition
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Acoustic radiation force impulse point shear wave elastography of the liver and spleen in patients with Gaucher disease type 1: Correlations with cli…

2020

To evaluate the feasibility of acoustic radiation force impulse point shear wave elastography (ARFI-pSWE) of the liver and spleen in patients with Gaucher disease type 1 (GD1), and to assess correlations between organ stiffness and clinico-radiologic data, particularly the GD1 Severity Scoring System (GD-DS3).We retrospectively evaluated the results of ARFI-pSWE as measures of liver and spleen stiffness in 57 patients with GD1. The feasibility of the method was assessed. Correlations between elastography data and clinical data related to the metabolic syndrome, laboratory tests, and GD1-related clinico-radiologic data (bone marrow burden score, GD-DS3) were assessed.ARFI-pSWE provided relia…

0301 basic medicineAdultMalemedicine.medical_specialtyAdolescentEndocrinology Diabetes and MetabolismSpleenDisease030105 genetics & heredityImpulse (physics)BiochemistrySeverity of Illness Index03 medical and health sciencesYoung Adult0302 clinical medicineEndocrinologyGeneticsmedicineHumansIn patientAcoustic radiation forceChildMolecular BiologyAgedRetrospective StudiesGaucher Diseasemedicine.diagnostic_testbusiness.industryReproducibility of ResultsAcousticsMiddle Agedmedicine.diseasePrognosismedicine.anatomical_structureLiverChild PreschoolElasticity Imaging TechniquesFemaleElastographyBone marrowRadiologyMetabolic syndromebusiness030217 neurology & neurosurgeryBiomarkersSpleenFollow-Up StudiesMolecular genetics and metabolism
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Effects of a 20-week high-intensity strength and sprint training program on tibial bone structure and strength in middle-aged and older male sprint a…

2017

This randomized, controlled, high-intensity strength and sprint training trial in middle-aged and older male sprint athletes showed significant improvements in mid-tibial structure and strength. The study reveals the adaptability of aging bone, suggesting that through a novel, intensive training stimulus it is possible to strengthen bones during aging. High-load, high-speed and impact-type exercise may be an efficient way of improving bone strength even in old age. We evaluated the effects of combined strength and sprint training on indices of bone health in competitive masters athletes, who serve as a group of older people who are likely to be able to participate in vigorous exercise of th…

0301 basic medicineAdultMalemedicine.medical_specialtyAgingbone pQCTStrength trainingEndocrinology Diabetes and Metabolismluuntiheys030209 endocrinology & metabolismAthletic Performancelaw.inventionRunning03 medical and health sciences0302 clinical medicinePhysical medicine and rehabilitationRandomized controlled triallawBMDBone DensitymedicineHumansTibial boneAgedpikajuoksijatAged 80 and overAnthropometryTibiabusiness.industrykuntoliikuntaHigh intensityhigh-impact trainingmasters athleteMiddle AgedSprint training030104 developmental biologyikääntyminenSprintAthletesOrthopedic surgeryMasters athletesPhysical therapyaikuisurheiluPatient CompliancevoimaharjoittelubusinessTomography X-Ray ComputedikääntyneetPhysical Conditioning HumanOsteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
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Resting Energy Expenditure and Substrate Oxidation in Malnourished Patients With Type 1 Glycogenosis.

2019

Abstract Context Type 1a and 1b glycogenosis [glycogen storage disorder (GSD)1a, GSD1b] are rare diseases generally associated with malnutrition. Although abnormal substrate oxidation rates and elevated energy expenditures might contribute to malnutrition, this issue has not been investigated. Objective To investigate whether abnormal resting energy expenditure (REE) and substrate oxidation rate characterize patients with GSD1. Design Cross-sectional study Setting Outpatient referral center for rare diseases and laboratory of clinical nutrition at the University Hospital of Palermo Patients Five consecutive patients with GSD1 (4 type a, 1 type b; 3 men, 2 women; age range, 19 to 49 years) M…

0301 basic medicineAdultMalemedicine.medical_specialtyEndocrinology Diabetes and MetabolismClinical Biochemistry030209 endocrinology & metabolismClinical nutritionmalnoutritionGlycogen Storage Disease Type IProtein oxidationBiochemistryGastroenterology03 medical and health sciencesBasal (phylogenetics)chemistry.chemical_compoundYoung Adult0302 clinical medicineEndocrinologyOxygen ConsumptionLipid oxidationsubstrate oxidationInternal medicineMedicineHumansResting energy expenditureSettore MED/49 - Scienze Tecniche Dietetiche ApplicateResting energy expenditureGlycogenbusiness.industryBiochemistry (medical)MalnutritionCalorimetry IndirectCarbohydratetype 1 glycogenosis.Middle Agedmedicine.diseaseMalnutrition030104 developmental biologyEndocrinologyCross-Sectional StudieschemistryBody CompositionFemalebusinessEnergy MetabolismOxidation-ReductionThe Journal of clinical endocrinology and metabolism
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Sex Alters the MHC Class I HLA-A Association With Polyglandular Autoimmunity.

2018

Abstract Context The major histocompatibility complex (MHC) strongly contributes to the development of polyglandular autoimmunity (PGA). Objective To evaluate the impact of sex on human leukocyte antigen (HLA) association with PGA for the first time. Design Cross-sectional immunogenetic study. Setting Academic tertiary referral Orphan Disease Center for PGA (ORPHA 282196) and immunogenetics laboratory. Subjects Patients (158) with coexistent type 1 diabetes and autoimmune thyroid disease (adult type 3 PGA, ORPHA 227982) and 479 unrelated healthy controls. Interventions All 637 white subjects were typed for HLA-A, -B, -DRB1, -DQA1, and -DQB1 alleles at a two-field level. Main Outcome Measure…

0301 basic medicineAdultMalemedicine.medical_specialtyEndocrinology Diabetes and MetabolismClinical Biochemistry030209 endocrinology & metabolismContext (language use)Human leukocyte antigenMajor histocompatibility complexmedicine.disease_causeBiochemistryAutoimmunity03 medical and health sciences0302 clinical medicineEndocrinologySex FactorsGene FrequencyInternal medicineMHC class ImedicineHumansGenetic Predisposition to DiseasePolyendocrinopathies AutoimmuneType 1 diabetesMHC class IIbiologyHLA-A Antigensbusiness.industryHistocompatibility TestingBiochemistry (medical)Histocompatibility Antigens Class IMiddle Agedmedicine.diseasePrognosisHLA-A030104 developmental biologyEndocrinologyCross-Sectional StudiesDiabetes Mellitus Type 1HaplotypesCase-Control Studiesbiology.proteinFemalebusinessBiomarkersFollow-Up StudiesThe Journal of clinical endocrinology and metabolism
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Liver Fat Content in People with Pituitary Diseases: Influence of Serum IGF1 Levels

2017

AbstractNon-alcoholic fatty liver disease (NAFLD) is commonly associated with obesity, metabolic syndrome, and type 2 diabetes. NAFLD is also seen in patients with endocrinopathies. However, the relationship between endocrine diseases and the development of NAFLD is not well known. In this study, we set out to determine whether liver fat content (LFC) was associated with IGF1 levels in people with pituitary diseases (PD). Eighty-nine patients with pituitary diseases and 74 healthy controls were included in this study. LFC was measured using MRI. Hepatic steatosis was defined as LFC>5.5%. Patients with PD were older, and had a higher BMI than healthy controls. LFC was significantly higher…

0301 basic medicineAdultMalemedicine.medical_specialtyEndocrinology Diabetes and MetabolismClinical Biochemistry030209 endocrinology & metabolismDiseaseType 2 diabetesIntra-Abdominal FatBiochemistryBody Mass Index03 medical and health sciences0302 clinical medicineEndocrinologyInternal medicine[ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathologyLiver fatmedicinesteatosisEndocrine systemHumansProspective StudiesInsulin-Like Growth Factor Ibusiness.industryBiochemistry (medical)Fatty liverIGF1pituitary diseasesnon-alcoholic fatty liver diseaseGeneral MedicineMiddle Agedmedicine.diseaseObesity030104 developmental biologyEndocrinologyCase-Control StudiesFemaleSteatosisMetabolic syndromebusinessBiomarkers
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