Search results for "Normal"

showing 10 items of 2571 documents

Simultaneous occurrence of compound odontoma and arrested root formation as developmental disturbances after maxillofacial trauma: a case report.

2009

Traumatic injury to a primary tooth and/or a bone fracture has the potential to damage the underlying permanent tooth germ which may disturb its development. The extent of the malformation depends on the developmental stage of the permanent tooth and the intensity of the trauma. The presence of infection may be a predictive factor for these abnormalities. Open surgical procedures can also potentially cause impaction and developmental disturbances. Several developmental alterations such as discolouration, hypoplasia, crown dilaceration, root angulation or dilaceration, sequestration of permanent tooth buds and disturbance in eruption have been reported in permanent teeth after trauma. Howeve…

MaleAdolescentmedicine.medical_treatmentDentistrystomatognathic systemMedicineHumansTooth RootGeneral DentistryReduction (orthopedic surgery)Permanent teethbusiness.industryImpactionTooth AbnormalitiesOdontomaCompound OdontomaBone fracturemedicine.disease:CIENCIAS MÉDICAS [UNESCO]Hypoplasiastomatognathic diseasesTraumatic injuryOtorhinolaryngologyUNESCO::CIENCIAS MÉDICASSurgeryMaxillofacial InjuriesbusinessDilacerationMedicina oral, patologia oral y cirugia bucal
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Rectal pH in children

1989

In an attempt to establish normal values for rectal pH in children, we have measured pH in 100 paediatric patients. Measurement of rectal pH was performed in 25 infants and 75 children (27 girls and 73 boys) using a monocrystalline antimony electrode. Rectal pH was 9.6 +/- 0.9 (mean +/- SD, range 7.2 to 12.1) and was independent of sex, age and nutrition. This wide range of rectal pH values offers a possible explanation for the widely scattered bioavailability of drugs administered by the rectal route. Mean rectal pH was considerably higher than that reported for adults; this unexpected alkalinity should be taken into account, when drug formulations are considered for rectal administration …

MaleAgingAdolescentRectumNormal valuesDrug formulationsPharmacokineticsReference ValuesHumansMedicineChildInfant Nutritional Physiological PhenomenaPaediatric patientsSex Characteristicsbusiness.industryRectumInfantGeneral MedicineHydrogen-Ion ConcentrationBioavailabilityAnesthesiology and Pain MedicineRectal routemedicine.anatomical_structureChild PreschoolRectal administrationAnesthesiaFemaleChild Nutritional Physiological PhenomenabusinessCanadian Journal of Anaesthesia
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Differential expression of PGC-1α and metabolic sensors suggest age-dependent induction of mitochondrial biogenesis in Friedreich ataxia fibroblasts.

2011

11 pages, 6 figures. PMID:21687738[PubMed] PMCID: PMC3110204

MaleAgingMitochondrial DiseasesMitochondrial MyopathyUbiquinoneCardiomyopathylcsh:MedicineMitochondrionAMP-Activated Protein Kinasesp38 Mitogen-Activated Protein KinasesAntioxidantsAdenosine TriphosphateAMP-activated protein kinaseTrinucleotide RepeatsFibrosisMolecular Cell BiologyChildlcsh:ScienceHeat-Shock ProteinsRegulation of gene expressionMultidisciplinaryMovement DisordersbiologyNeuromuscular DiseasesMiddle AgedCatalasePeroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alphaCell biologyMitochondriaDNA-Binding ProteinsNeurologyDisease ProgressionMedicineFemalemedicine.symptomSignal TransductionResearch ArticleAdultcongenital hereditary and neonatal diseases and abnormalitiesAtaxiaAdolescentMitochondrial ProteinsmedicineGeneticsHumansBiologyAllelesGlutathione PeroxidaseSuperoxide Dismutaselcsh:RHuman GeneticsFibroblastsmedicine.diseaseMolecular biologyOxidative StressMitochondrial biogenesisGene Expression RegulationFriedreich Ataxiabiology.proteinFrataxinlcsh:QEnergy MetabolismReactive Oxygen SpeciesTranscription FactorsPLoS ONE
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SARS CoV2 infection _The longevity study perspectives

2021

Graphical abstract

MaleAgingssRNA single-stranded RNARFLP restriction fragment length polymorphismHSPs heat shock proteinsReviewPTMs post-translational modificationsSevere Acute Respiratory SyndromeBiochemistryHIV-1 human immunodeficiency virus-1TNF-α tumor necrosis factor-αEC endothelial cells0302 clinical medicineFluAV influenza A virusI insertionMedicineIFN-γ interferon-γDIC disseminated intravascular coagulationPCR Polymerase Chain Reactionmedia_commonAged 80 and overLongevityRBD receptor-binding domainNeurologyLongevity modelMI myocardial infarctionNK natural killerhPIV2 human parainfluenza virus type 2media_common.quotation_subjectResearching genetic basis of resistance and potential pharmacological targetsLongevityDBP diastolic blood pressureNF-Kb nuclear transcription factor kBRANTES regulated upon activation normal T cell expressed and secretedMphi human macrophages03 medical and health sciencesCox 2 cyclooxygenase 2ORF open reading framePT prothrombin timeSettore MED/05 - Patologia ClinicaHumansMolecular BiologyInflammatory genesARDS acute respiratory distress syndromeNO nitric oxideD deletionCpGIs CpG islandsT2DM type 2 diabetes mellitusmedicine.diseaseFDP fibrin degradation products030104 developmental biologySARS CoV2 severe acute respiratory syndrome Coronavirus 2 virusImmunologyBMI body max indexItalian nonagenarians/centenariansRSV respiratory syncytial virusComplication030217 neurology & neurosurgeryMAPK mitogen-activated protein kinaseIP-10 IFN-γ -Inducible Protein 1040301 basic medicineAT1R activity of angiotensin 1 receptorsDCs dentritic cellsSSCP single strand conformation polymorphismACE/DD polymorphism of the angiotensin converting enzymeFGF21 fibroblast growth factor 21TLR4 toll-like receptor 4NAD nicotinamide adenine dinucleotideACE angiotensin-I converting enzymeAT2R activity of angiotensin 2 receptorsCOVID-19 Coronavirus disease 2019Respiratory distressACE2 angiotensin converting enzyme 2MKP-1 mitogen-activated protein kinase phosphatase-1 ()PD protease domainSNP single nucleotide polymorphismEH essential hypertensionTNFR tumor necrosis factor receptorINR international normalized ratio of the prothrombin timePAI-1 plasminogen activator inhibitor-1Ang angiotensinLPS lipopolysaccharideMCP1 monocyte chemoattractant protein-1medicine.symptomaPTT partial thromboplastin timeBiotechnologyDUSP1 dual specificity phosphatase 1Coronavirus disease 2019 (COVID-19)PC prostate cancerRAS renin-angiotensin aldosterone systemCCR5Δ32 genetic variant of chemokine receptorCOVID-19 Researching genetic basis of resistance and potential pharmacological targets Italian nonagenarians/centenarians Longevity modelAsymptomaticSARS-1 severe acute respiratory syndrome virus 1SIRT-1 Sirtuin 1Th1 t-helper lymphocyte type 1Immune systemROS reactive oxygen speciesTGF-β transforming growth factor betaET-1 endothelin-1ComputingMethodologies_COMPUTERGRAPHICSADAM-17 metallopeptidase domain 17business.industrySARS-CoV-2SBP systolic blood pressureCOVID-19HDACs histone deacetylasesComorbidityImmune Systembusiness5-LO lipoxygenase 5Ageing Research Reviews
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Two-dimensional transthoracic echocardiographic normal reference ranges for proximal aorta dimensions: Results from the EACVI NORRE study

2017

International audience; AIMS: To report normal reference ranges for echocardiographic dimensions of the proximal aorta obtained in a large group of healthy volunteers recruited using state-of-the-art cardiac ultrasound equipment, considering different measurement conventions, and taking into account gender, age, and body size of individuals. METHODS AND RESULTS: A total of 704 (mean age: 46.0 ± 13.5 years) healthy volunteers (310 men and 394 women) were prospectively recruited from the collaborating institutions of the Normal Reference Ranges for Echocardiography (NORRE) study. A comprehensive echocardiographic examination was obtained in all subjects following pre-defined protocols. Aortic…

MaleAorta ThoracicSex Factor030204 cardiovascular system & hematologyReproducibility of resultCohort Studies0302 clinical medicineDiastoleMedicineThoracic aortaAge FactorReference ValueProspective Studies030212 general & internal medicineMultivariate AnalysiBody surface areaCardiac cycleAge FactorsGeneral MedicineNORRE studyMiddle AgedHealthy VolunteerHealthy VolunteersEuropeEchocardiographyNORRE study; echocardiography; reference values; reproducibility of results; sinus of valsalva; thoracic aortaCardiologyLinear Model[SDV.IB]Life Sciences [q-bio]/BioengineeringFemaleCardiology and Cardiovascular MedicineHumanAdultmedicine.medical_specialtySystoleDiastoleNormal valuesThoracic aortaReference values03 medical and health sciencesYoung AdultSex FactorsInternal medicinemedicine.arteryAscending aortaHumansRadiology Nuclear Medicine and imagingMeasurement methodAortaAnalysis of Variancebusiness.industrySinus of valsalvaReproducibility of ResultsMED/11 - MALATTIE DELL'APPARATO CARDIOVASCOLAREProspective StudieMultivariate AnalysisLinear ModelsCohort Studiebusiness
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Dilated azygos arch mimicking an aortic arch anomaly during thoracic surgery

2017

Cardiovascular malformations are frequently associated in patients with esophageal atresia (EA). We observed azygos continuation mimicking an aortic arch anomaly in four newborns with type III EA. They presented concomitant rib anomalies indicating a common developmental defect. Foreknowledge is important for planning thoracotomy or interventional cardiac catheterization in this population.

MaleAortic archmedicine.medical_specialtyAzygos continuation; Cardiovascular abnormalities; Tracheoesophageal fistula; Pediatrics Perinatology and Child Health; Obstetrics and Gynecologymedicine.medical_treatmentCardiovascular AbnormalitiesPopulationAorta ThoracicRibsTracheoesophageal fistulaDiagnosis Differential03 medical and health sciences0302 clinical medicine030225 pediatricsmedicine.arteryInternal medicinemedicineHumansThoracotomyeducationEsophageal AtresiaCardiac catheterizationeducation.field_of_studybusiness.industryCardiovascular abnormalitieTracheoesophageal fistulaInfant NewbornObstetrics and Gynecologymedicine.diseaseSurgeryAzygos continuationThoracotomyCardiothoracic surgeryAzygos Vein030220 oncology & carcinogenesisConcomitantAtresiaPediatrics Perinatology and Child HealthCardiologyFemalebusiness
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De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurologi…

2019

Abstract KCNMA1 encodes the large-conductance Ca2+- and voltage-activated K+ (BK) potassium channel α-subunit, and pathogenic gain-of-function variants in this gene have been associated with a dominant form of generalized epilepsy and paroxysmal dyskinesia. Here, we genetically and functionally characterize eight novel loss-of-function (LoF) variants of KCNMA1. Genome or exome sequencing and the participation in the international Matchmaker Exchange effort allowed for the identification of novel KCNMA1 variants. Patch clamping was used to assess functionality of mutant BK channels. The KCNMA1 variants p.(Ser351Tyr), p.(Gly356Arg), p.(Gly375Arg), p.(Asn449fs) and p.(Ile663Val) abolished the …

MaleAtaxiaGenotypeDevelopmental DisabilitiesMutation MissenseBiology03 medical and health sciences0302 clinical medicineNeurodevelopmental disorderProtein DomainsLoss of Function MutationGeneticsmedicineHumansMissense mutationAbnormalities MultipleGenetic Predisposition to DiseaseProtein Interaction Domains and MotifsAlleleLarge-Conductance Calcium-Activated Potassium Channel alpha SubunitsMolecular BiologyAllelesGenetic Association StudiesGenetics (clinical)Loss functionExome sequencing030304 developmental biologyGenetics0303 health sciencesInfant NewbornGeneral MedicineParoxysmal dyskinesiamedicine.diseaseElectrophysiological PhenomenaPedigreePhenotypeAmino Acid SubstitutionSpeech delayFemaleGeneral Articlemedicine.symptom030217 neurology & neurosurgeryHuman Molecular Genetics
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Immunological investigations in two brothers with ataxia telangiectasia Louis-Bar

1976

Two of three brothers with the classical signs of ataxia telangiectasia were investigated for their immunological disorders at the ages of 13 and 16 years, respectively. The elder brother also suffers from autoimmune hemolytic anemia, a complication which has not yet been described in the course of ataxia telangiectasia. Immunological investigations made in both brothers showed a reduction in the number and function of T lymphocytes. The number of B lymphocytes was normal, among which there were cells staining for IgA, although serum IgA was absent. It seems possible that this phenomenon is caused by a disturbance in the process of maturation of lymphoid cells with a lack of differentiation…

MaleB-Lymphocytescongenital hereditary and neonatal diseases and abnormalitiesAdolescentbusiness.industryT-LymphocytesPlasma CellsGeneral MedicineSerum igamedicine.diseaseImmunoglobulin AAtaxia TelangiectasiaIMMUNE DEFICIENCY DISEASEPediatrics Perinatology and Child HealthImmunologyAtaxia-telangiectasiamedicineHumansRadiology Nuclear Medicine and imagingAnemia Hemolytic AutoimmuneAutoimmune hemolytic anemiaComplicationbusinessEuropean Journal of Pediatrics
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Complications in Craniovertebral Junction Instrumentation: Hardware Removal Can Be Associated with Long-Lasting Stability. Personal Experience

2017

Background The causes of craniovertebral junction (CVJ) instabilities include trauma, rheumatological diseases, tumors, infections, congenital malformations, and degenerative disease processes; these complex pathologies often require CVJ instrumentation. Hardware complications were analyzed in a personal series of 48 treated patients. In light of the analysis of very unusual radiological and clinical findings, the authors tried to better investigate the related mechanisms and to reach possible useful conclusions. Methods In a series of 48 patients who underwent CVJ instrumentation and fusion procedures in our Institution, we describe three cases of hardware failure, due to: (1) infection; (…

MaleBone ScrewsOccipito-cervical fusionOccipito cervical fusion030218 nuclear medicine & medical imagingPostoperative Complications0302 clinical medicineDegenerative diseaseMedicineAxis Cervical VertebraBone infections; Craniovertebral junction; Occipito-cervical fusion; Screwing; Wiring; Surgery; Neurology (clinical)EncephaloceleMedulla OblongataWiringSettore MED/27 - NeurochirurgiaCraniovertebral junctionCongenital malformationsMiddle AgedDecompression SurgicalMagnetic Resonance ImagingBone infectionsProsthesis FailureAtlanto-Axial JointRadiological weaponScrewingComputer hardwareBone WiresJoint InstabilityLong lastingProsthesis-Related InfectionsAdolescentAntineoplastic AgentsBone NeoplasmsCongenital Abnormalities03 medical and health sciencesOdontoid ProcessHumansInstrumentation (computer programming)Device RemovalRadiotherapybusiness.industrymedicine.diseaseRadiographyAtlanto-Occipital JointSpinal FusionSurgeryNeurology (clinical)Tomography X-Ray Computedbusiness030217 neurology & neurosurgeryPlasmacytoma
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Medullary infarcts may cause ipsilateral masseter reflex abnormalities.

2007

There is a suprasegmental influence on the masseter reflex (MassR) in animals, which is mediated via the fifth nerve spinal nucleus (5SpN). Corresponding data in humans are lacking. Out of 268 prospectively recruited patients with clinical signs of acute brainstem infarctions, we identified 38 with magnetic resonance imaging (MRI)-documented unilateral infarcts caudal to the levels of the fifth nerve motor and main sensory nuclei. All had biplanar T2- and echo planar diffusion-weighted MRI and MassR testing. Five patients (13%) had ipsilateral MassR abnormalities. In all, the infarcts involved the region of the 5SpN. Patients with medullary infarcts involving the region of the 5SpN may thus…

MaleBrain Stem InfarctionsPhysiologyMotor nerveFunctional LateralitymethodsMasseter muscleCellular and Molecular NeuroscienceImaging Three-Dimensionalpathology/physiopathologyPhysiology (medical)80 and overmedicinethree-dimensionalHumansmriAgedAged 80 and overMedulla OblongataBlinkingReflex Abnormalbusiness.industryMasseter Muscle80 and over; abnormal; aged; blinking; brain stem infarctions; female; functional laterality; humans; imaging; magnetic resonance imaging; male; masseter muscle; masseter reflex; medulla oblongata; medullary infarct; methods; middle aged; mri; pathology/physiopathology; physiology; physiopathology; reflex; three-dimensionalimagingreflexAnatomyMiddle AgedMagnetic Resonance Imagingmedicine.anatomical_structureSpinal nervemasseter reflexReflexMedulla oblongataFemalemedullary infarctNeurology (clinical)BrainstemphysiopathologybusinessabnormalJaw jerk reflexSensory nerveMusclenerve
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