Search results for "ILD"

showing 10 items of 12835 documents

Oxygen Use in Neonatal Care: A Two-edged Sword

2017

In the neonatal period, the clinical use of oxygen should be taken into consideration for its beneficial and toxicity effects. Oxygen toxicity is due to the development of reactive oxygen species (ROS) such as OH• that is one of the strongest oxidants in nature. Of note, generation of ROS is a normal occurrence in human and it is involved in a myriad of physiological reactions. Anyway an imbalance between production of oxidant species and antioxidant defenses, called oxidative stress, could affect various aspect of organisms' physiology and it could determine pathological consequences to living beings. Neonatal oxidative stress is essentially due to decreased antioxidants, increased ROS, or…

0301 basic medicineAntioxidantmedicine.medical_treatmentIschemiaPhysiologyReviewmedicine.disease_causePediatrics03 medical and health sciences0302 clinical medicine030225 pediatricsnewborn infantsmedicineoxidative stressOxygen toxicitychemistry.chemical_classificationHyperoxiareactive oxygen speciesReactive oxygen speciesbusiness.industryHypoxia (medical)medicine.diseasemitochondria030104 developmental biologyMitochondrial respiratory chainchemistryfree ironPediatrics Perinatology and Child HealthImmunologymedicine.symptombusinessoxygenOxidative stressFrontiers in Pediatrics
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Mild Parkinsonian Signs in a Hospital-based Cohort of Mild Cognitive Impairment Types: A Cross-sectional Study

2018

Background:Mild Parkinsonian Signs (MPS) have been associated with Mild Cognitive Impairment (MCI) types with conflicting results.Objective:To investigate the association of individual MPS with different MCI types using logistic ridge regression analysis, and to evaluate for each MCI type, the association of MPS with caudate atrophy, global cerebral atrophy, and the topographical location of White Matter Hyperintensities (WMH), and lacunes.Methods:A cross-sectional study was performed among 1,168 subjects with different types of MCI aged 45-97 (70,52 ± 9,41) years, who underwent brain MRI. WMH were assessed through two visual rating scales. The number and location of lacunes were also rated…

0301 basic medicineApolipoprotein EMalemedicine.medical_specialtyMild parkinsonian signsbehavioral disciplines and activitiesCohort Studies03 medical and health sciencesLateral ventricles0302 clinical medicineAtrophyParkinsonian DisordersRating scaleInternal medicinemental disordersmedicineDementiaHumansCognitive Dysfunctioncaudate atrophyProspective cohort studyAgedglobal cerebral atrophyCerebral atrophyAged 80 and overbusiness.industryMiddle Agedwhite matter hyperintensitiesmedicine.diseaseHyperintensitynervous system diseases030104 developmental biologyCross-Sectional StudiesNeurologyCardiologyFemaleNeurology (clinical)business030217 neurology & neurosurgery
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The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

2017

Mucopolysaccharidosis (MPS) VI is an autosomal recessive lysosomal storage disorder arising from deficient activity of N-acetylgalactosamine-4-sulfatase (arylsulfatase B) and subsequent intracellular accumulation of the glycosaminoglycans (GAGs) dermatan sulfate and chondroitin-4-sulfate. Manifestations are multi-systemic and include skeletal abnormalities such as dysostosis multiplex and short stature. Reference height-for-age growth charts for treatment-naive MPS VI patients have been published for both the slowly and rapidly progressing populations. Categorization of disease progression for these charts was based on urinary GAG (uGAG) level; high (>200μg/mg creatinine) levels identified …

0301 basic medicineArylsulfatase BMaleLysosomal storage disorderN-Acetylgalactosamine-4-SulfataseEndocrinology Diabetes and MetabolismMucopolysaccharidosisGrowthBiochemistryGastroenterologychemistry.chemical_compoundEndocrinologyChildMucopolysaccharidosis VIAge FactorsMucopolysaccharidosis VIEnzyme replacement therapyRecombinant ProteinsDiabetes and MetabolismEnzyme replacement therapy; Galsulfase; Growth; Height; Lysosomal storage disorder; Maroteaux-Lamy syndrome; Mucopolysaccharidosis; Mucopolysaccharidosis VI; Endocrinology Diabetes and Metabolism; Biochemistry; Molecular Biology; Genetics; EndocrinologyChild PreschoolFemalemedicine.symptommedicine.medical_specialtyAdolescentUrinary systemShort stature03 medical and health sciencesGalsulfaseInternal medicineGeneticsmedicineHumansEnzyme Replacement TherapyMolecular BiologyCreatinineHeightbusiness.industryInfant NewbornInfantmedicine.diseaseBody HeightMucopolysaccharidosisMaroteaux–Lamy syndrome030104 developmental biologychemistryImmunologyMaroteaux-Lamy syndromebusinessFollow-Up StudiesMolecular genetics and metabolism
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14-3-3 Proteins regulate K2P5.1 surface expression on T lymphocytes

2016

K2P5.1 channels (also called TASK-2 or KCNK5) have already been shown to be relevant in the pathophysiology of autoimmune disease since they are known to be upregulated on peripheral and central T lymphocytes of multiple sclerosis (MS) patients. Moreover, overexpression of K2P5.1 channels in vitro provokes enhanced T-cell effector functions. However, the molecular mechanisms regulating intracellular K2P5.1 channel trafficking are unknown so far. Thus, the aim of the study is to elucidate the trafficking of K2P5.1 channels on T lymphocytes. Using mass spectrometry analysis, we have identified 14-3-3 proteins as novel binding partners of K2P5.1 channels. We show that a non-classical 14-3-3 co…

0301 basic medicineAutoimmune diseaseMultiple sclerosisMutantWild typeCell BiologyBiologymedicine.diseaseBiochemistryPathophysiologyIn vitroCell biology03 medical and health sciences030104 developmental biologyDownregulation and upregulationStructural BiologyGeneticsmedicineMolecular BiologyIntracellularTraffic
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FMF is not always "fever": from clinical presentation to "treat to target".

2020

AbstractFamilial Mediterranean Fever, a monogenic autoinflammatory disease secondary to MEFV gene mutations in the chromosome 16p13, is characterized by recurrent self-limiting attacks of fever, arthritis, aphthous changes in lips and/or oral mucosa, erythema, serositis. It is caused by dysregulation of the inflammasome, a complex intracellular multiprotein structure, commanding the overproduction of interleukin 1. Familial Mediterranean Fever can be associated with other multifactorial autoinflammatory diseases, as vasculitis and Behçet disease.Symptoms frequently start before 20 years of age and are characterized by a more severe phenotype in patients who begin earlier.Attacks consist of …

0301 basic medicineAutoinflammatory diseasemedicine.medical_specialtyCanakinumabAutoinflammatory diseasesArthritisFamilial Mediterranean feverDiseaseReviewGene mutationFamilial Mediterranean feverDiagnosis Differential03 medical and health sciences0302 clinical medicineMedicineHumansChild030203 arthritis & rheumatologybusiness.industryAmyloidosislcsh:RJ1-570lcsh:Pediatricsmedicine.diseaseMEFVDermatologyTubulin ModulatorsCanakinumab030104 developmental biologyPhenotypebusinessColchicineSerositisBiomarkersmedicine.drugItalian journal of pediatrics
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Global prevalence, treatment, and prevention of hepatitis B virus infection in 2016: a modelling study

2018

PubMed: 29599078

0301 basic medicineBIOMEDICINE AND HEALTHCARE. Clinical Medical Sciences.HBsAgPediatricsDelphi TechniqueInfectious Disease TransmissionCHRONIC HBV INFECTION ; NATURAL-HISTORY ; FOLLOW-UP ; HBSAG ; CARRIERS ; AGE ; COUNTRIES ; DISEASE ; ANTIGEN ; COHORTddc:616.07Global Healthmedicine.disease_causeDISEASE0302 clinical medicinePrevalenceHBVChildddc:616Antiviral Agents/therapeutic useeducation.field_of_studyBIOMEDICINA I ZDRAVSTVO. Kliničke medicinske znanosti.Chronic/drug therapy/epidemiology/prevention & control/transmissionGastroenterologyHepatitis B Surface Antigens/bloodHepatitis BCARRIERSHepatitis B10219 Clinic for Gastroenterology and HepatologyChild Preschool030211 gastroenterology & hepatologyViral hepatitisViral loadCOUNTRIESAdultmedicine.medical_specialtyHepatitis B vaccineANTIGENPopulation610 Medicine & healthAntiviral AgentsMass VaccinationHepatology; Gastroenterology03 medical and health sciencesHepatitis B ChronicHBSAGAGESDG 3 - Good Health and Well-beingmedicineHumansCOHORT2715 GastroenterologyPreschooleducationDisease burdenHepatitis B virusHepatitis B Surface AntigensHepatologybusiness.industryViral VaccinesNATURAL-HISTORYmedicine.diseaseInfectious Disease Transmission VerticalCHRONIC HBV INFECTIONVertical/prevention & control030104 developmental biology2721 HepatologyHuman medicineFOLLOW-UPbusiness
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Septic arthritis due to Sneathia sanguinegens in a male. First case described in the scientific literature

2021

An 88-year-old male admitted with septic shoulder arthritis due to a gram-negative bacillus. The microorganism is identified by sequencing the 16 S rDNA gene as Sneathia sanguinegens. This is the first case described in the literature in a male, since so far only infections in women of childbearing age have been described.

0301 basic medicineBacillus (shape)biologybusiness.industry030106 microbiologyGeneral Medicinebiology.organism_classificationmedicine.diseaseMicrobiology03 medical and health sciences030104 developmental biologyChildbearing agemedicineShoulder arthritisSeptic arthritisSneathia sanguinegensbusinessReumatología Clínica (English Edition)
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Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: An international consensus statement

2018

Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours. Delineation of the molecular defects within the imprinted 11p15.5 region can predict familial recurrence risks and the risk (and type) of embryonal tumour. Despite recent advances in knowledge, there is marked heterogeneity in clinical diagnostic criteria and care. As detailed in this Consensus Statement, an international consensus group agreed upon 72 recommendations for the clinical and molecular diagnosis and management …

0301 basic medicineBeckwith-Wiedemann SyndromeConsensusDNA Copy Number VariationsReproductive Techniques AssistedEndocrinology Diabetes and MetabolismLibrary science32 Biomedical and Clinical SciencesTranslational research030105 genetics & heredityPolymorphism Single NucleotideBildung03 medical and health sciencesRare DiseasesEndocrinologyPrenatal DiagnosisHumansMedicinemedia_common.cataloged_instancePediatric nephrologyChild growthEuropean union3202 Clinical Sciencesmedia_commonPediatricbusiness.industryEuropean researchExpert consensusDNA MethylationNeoplasms Germ Cell and EmbryonalNational health service3. Good healthMolecular Diagnostic Techniquesbusiness
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Serum Amino Acid Profiles in Childhood Predict Triglyceride Level in Adulthood: A 7-Year Longitudinal Study in Girls.

2016

AbstractContext:Branched-chain and aromatic amino acids are associated with high risk of developing dyslipidemia and type II diabetes in adults.Objective:This study aimed to examine whether serum amino acid profiles associate with triglyceride concentrations during pubertal growth and predict hypertriglyceridemia in early adulthood.Design:This was a 7.5-year longitudinal study.Setting:The study was conducted at the Health Science Laboratory, University of Jyväskylä.Participants:A total of 396 nondiabetic Finnish girls aged 11.2 ± 0.8 years at the baseline participated in the study.Main Outcome Measures:Body composition was assessed by dual-energy x-ray absorptiometry; serum concentrations o…

0301 basic medicineBlood GlucoseLongitudinal studymedicine.medical_specialtyMagnetic Resonance SpectroscopyAdolescentEndocrinology Diabetes and Metabolismmedicine.medical_treatmentClinical BiochemistryContext (language use)030204 cardiovascular system & hematologyBiochemistry03 medical and health scienceschemistry.chemical_compound0302 clinical medicineEndocrinologyAbsorptiometry PhotonInternal medicinemedicineHumansInsulinLongitudinal StudiesAmino AcidsChildTriglyceridesTriglyceridebusiness.industryInsulinBiochemistry (medical)Hypertriglyceridemiamedicine.disease030104 developmental biologyEndocrinologychemistryBody CompositionFemaleIsoleucineLeucinebusinessDyslipidemiaThe Journal of clinical endocrinology and metabolism
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Macronutrient balance and micronutrient amounts through growth and development

2021

AbstractNutrition is essential for human growth, particularly in newborns and children. An optimal growth needs a correct diet, in order to ensure an adequate intake of macronutrients and micronutrients. Macronutrients are the compounds that humans consume in largest quantities, mainly classified in carbohydrates, proteins and fats. Micronutrients are instead introduced in small quantities, but they are required for an adequate growth in the pediatric age, especially zinc, iron, vitamin D and folic acid. In this manuscript we describe the most important macro and micronutrients for children’s growth.

0301 basic medicineBreast milkAdolescentIronMacronutrient030209 endocrinology & metabolismReviewBreast milkPediatricsRJ1-570Vitamin03 medical and health sciences0302 clinical medicineZinc.Vitamin D and neurologyHumansMedicineMicronutrientMicronutrientsFood scienceInfant nutrient intakeVitamin DChildMacro and micronutrientsPediatric growthNutritionInfant nutrient intakesTrace elements030109 nutrition & dieteticsbusiness.industryInfant NewbornInfantPediatric ageNutrientsVitaminsMicronutrientDietZincFolic acidDietary Reference IntakeChild PreschoolTrace elementGrowth and DevelopmentMacronutrientsOptimal growthEnergy Intakebusiness
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