Search results for "Gain"

showing 10 items of 625 documents

Compassionate use of everolimus for refractory epilepsy in a patient with MTOR mosaic mutation

2020

Abstract The MTOR gene encodes the mechanistic target of rapamycin (mTOR), which is a core component of the PI3K-AKT-mTOR signaling pathway. Postzygotic MTOR variants result in various mosaic phenotypes, referred to in OMIM as Smith-Kinsgmore syndrome or focal cortical dysplasia. We report here the case of a patient, with an MTOR mosaic gain-of-function variant (p.Glu2419Lys) in the DNA of 41% skin cells, who received compassionate off-label treatment with everolimus for refractory epilepsy. This 12-year-old-girl presented with psychomotor regression, intractable seizures, hypopigmentation along Blaschko's lines (hypomelanosis of Ito), asymmetric regional body overgrowth, and ocular anomali…

0301 basic medicineOncologyCompassionate Use Trialsmedicine.medical_specialty[SDV]Life Sciences [q-bio]030105 genetics & heredityMuscle hypertrophyCraniofacial Abnormalities03 medical and health sciencesInternal medicineGeneticsmedicineHumansEverolimusChildMechanistic target of rapamycinProtein Kinase InhibitorsGenetics (clinical)PI3K/AKT/mTOR pathwayHypopigmentationEverolimusbiologybusiness.industryMosaicismTOR Serine-Threonine KinasesNeuropsychologyGeneral MedicineCortical dysplasiamedicine.disease3. Good healthClinical trialMalformations of Cortical Development[SDV] Life Sciences [q-bio]030104 developmental biologyPhenotypeGain of Function Mutationbiology.proteinFemaleEpilepsies Partialmedicine.symptombusinessmedicine.drug
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11 and 15-month-old infants do not compensate immediately for energy variation, and no further adjustment occurs 12 or 24 hours later

2021

International audience; Previously, we demonstrated that, in the short term, infants undercompensated for the energy from a preload given 25 min before an ad libitum meal. However, although not consistent, there is evidence in young children that caloric adjustment may occur over longer periods. We investigated the extent to which further energy adjustment occurs up to 24 h after a single meal preceded by preloads of varying energy density (ED) in infants that are 11 and 15 months old. Short-term caloric adjustment was measured in 11- and 15-month-old infants through a preload paradigm meal in the laboratory. To assess their caloric adjustment over longer periods (12 and 24 h), we used 24 h…

0301 basic medicinePediatricsmedicine.medical_specialtyAppetite controlCOMPXEnergy balanceAppetite030209 endocrinology & metabolism03 medical and health sciences0302 clinical medicineappetite controlpreload paradigmmedicineHumansChildMealsGeneral PsychologyMeal[SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics030109 nutrition & dieteticsNutrition and DieteticsAppetite Regulationbusiness.industrydigestive oral and skin physiologyInfantCaloric theoryDiet RecordsPreloadChild Preschooldietary recordEnergy densityEnergy variationenergy intakecaloric adjustmentmedicine.symptomEnergy MetabolismbusinessWeight gain[SDV.AEN]Life Sciences [q-bio]/Food and Nutrition
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Studies towards a directional polychromatic sodium laser guide star

2018

In this work we discuss a mechanism for generation of a coherent source of light from the mesosphere as a new concept of directional laser guide star. In contrast to the near-isotropic spontaneous emission, nonlinear processes in atomic vapors like amplified spontaneous emission can yield highly directional emission in the forward and backward directions. Along with directional emission, excited sodium atoms also radiate at different wavelength creating a polychromatic laser guide star (PLGS). If feasible, a directional PLGS would provide a net gain in the return flux of several orders of magnitude compared to traditional LGS schemes, making possible laser-guided tip/tilt-correction in adap…

0301 basic medicinePhysicsAmplified spontaneous emissionbusiness.industryPhysics::OpticsFlux01 natural sciences010309 optics03 medical and health sciencesWavelength030104 developmental biologyOpticsLaser guide starOrders of magnitude (time)Net gainExcited state0103 physical sciencesSpontaneous emissionbusinessAdaptive Optics Systems VI
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Cold Atmospheric Plasma Promotes Regeneration-Associated Cell Functions of Murine Cementoblasts In Vitro

2021

The aim of the study was to examine the efficacy of cold atmospheric plasma (CAP) on the mineralization and cell proliferation of murine dental cementoblasts. Cells were treated with CAP and enamel matrix derivates (EMD). Gene expression of alkaline phosphatase (ALP), bone gamma-carboxyglutamate protein (BGLAP), periostin (POSTN), osteopontin (OPN), osterix (OSX), collagen type I alpha 1 chain (COL1A1), dentin matrix acidic phosphoprotein (DMP)1, RUNX family transcription factor (RUNX)2, and marker of proliferation Ki-67 (KI67) was quantified by real-time PCR. Protein expression was analyzed by immunocytochemistry and ELISA. ALP activity was determined by ALP assay. Von Kossa and alizarin r…

0301 basic medicinePlasma GasesGene Expressioncold atmospheric plasmaMice0302 clinical medicineCell MovementmineralizationOsteopontinBiology (General)CementogenesisSpectroscopyDental CementumbiologyChemistryCell DifferentiationGeneral Medicinetraumatic dental injuriesdental hard tissue regeneration therapyComputer Science ApplicationsChemistryAlkaline phosphatasecementoblastsemdogainQH301-705.5Cell SurvivalproliferationCementoblastOsteocalcinPeriostinArticleCatalysisCell LineInorganic Chemistry03 medical and health sciencesCalcification Physiologicstomatognathic systemAnimalsViability assayPhysical and Theoretical ChemistryQD1-999Molecular BiologyCell ProliferationCell growthOrganic Chemistry030206 dentistryMolecular biologyDMP1Collagen type I alpha 1030104 developmental biologyGene Expression Regulationbiology.proteinOsteopontinTranscriptomeInternational Journal of Molecular Sciences
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Over-expression of CsGSTU promotes tolerance to the herbicide alachlor and resistance to Pseudomonas syringae pv. tabaci in transgenic tobacco

2017

Glutathione transferases (GSTs) mainly catalyze the nucleophilic addition of glutathione to a large variety of hydrophobic molecules participating to the vacuole compartmentalization of many toxic compounds. In this work, the putative tolerance of transgenic tobacco plants over-expressing CsGSTU genes towards the chloroacetanilide herbicide alachlor was investigated. Our results show that the treatment with 0.0075 mg cm-3 of alachlor strongly affects the growth of both wild type and transformed tobacco seedlings with the sole exception of the transgenic lines overexpressing CsGSTU2 isoform that are barely influenced by herbicide treatment. In order to correlate the in planta studies with en…

0301 basic medicineTransgeneHost–pathogen interactionAlachlorWild typefood and beveragesPlant ScienceGlutathioneHorticultureBiotic stressBiology03 medical and health scienceschemistry.chemical_compound030104 developmental biologybiotic stress glutathione transferase host-pathogen interaction phytoremediationBiochemistrychemistryBotanyPseudomonas syringaePlant defense against herbivoryBiologia plantarum
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Primary vitrectomy for degenerative and tractional lamellar macular holes: A systematic review and meta-analysis

2021

Purpose To assess the efficacy of vitrectomy in degenerative and tractional lamellar macular holes (LMHs) by meta-analysis of published studies. Methods PubMed, Medline and Embase databases were searched up to May 2020. Included cohorts were divided into three groups: degenerative LMH group, lamellar hole associated epiretinal proliferation (LHEP) group and tractional LMH group. LHEP is likely to be associated with degenerative LMHs, but less commonly could be associated with mixed LMHs. To reduce risk of possible misclassification bias, eyes with LHEP which could not have been precisely classified by the authors, were included into the LHEP group. The primary outcome was to investigate th…

0301 basic medicineVisual acuitygenetic structuresVisionmedicine.medical_treatmentVisual AcuitySocial SciencesVitrectomyDatabase and Informatics MethodsMathematical and Statistical Techniques0302 clinical medicineVitrectomyMedicine and Health SciencesPsychologyMedicineDatabase SearchingMacular holeMultidisciplinaryIncidence (epidemiology)StatisticsQOphthalmic ProceduresRMetaanalysisResearch AssessmentMeta-analysisPhysical SciencesMedicineSensory PerceptionAnatomymedicine.symptomResearch Articlemedicine.medical_specialtySystematic ReviewsScienceSurgical and Invasive Medical ProceduresResearch and Analysis Methods03 medical and health sciencesOcular SystemOphthalmologyHumansStatistical Methodsbusiness.industryPrimary vitrectomyCognitive PsychologyBiology and Life SciencesHumans; Retinal Perforations; Visual Acuity; VitrectomyRetinal Perforationsmedicine.diseaseConfidence intervaleye diseases030104 developmental biology030221 ophthalmology & optometryCognitive ScienceEyesPerceptionVisual gainbusinessHeadMathematicsNeuroscience
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Voluntary Running Aids to Maintain High Body Temperature in Rats Bred for High Aerobic Capacity

2016

The production of heat, i.e., thermogenesis, is a significant component of the metabolic rate, which in turn affects weight gain and health. Thermogenesis is linked to physical activity (PA) level. However, it is not known whether intrinsic exercise capacity, aging, and long-term voluntary running affect core body temperature. Here we use rat models selectively bred to differ in maximal treadmill endurance running capacity (Low capacity runners, LCR and High capacity Runners, HCR), that as adults are divergent for aerobic exercise capacity, aging, and metabolic disease risk to study the connection between PA and body temperature. Ten high capacity runner (HCR) and ten low capacity runner (L…

0301 basic medicinemedicine.medical_specialtyAgingPhysiologyphysical activitylcsh:PhysiologyBody Temperatureruumiinlämpö03 medical and health sciencesGastrocnemius muscle0302 clinical medicinePhysiology (medical)Internal medicinemedicineAerobic exerciseTreadmillskeletal muscleta315Aerobic capacityOriginal ResearchCore (anatomy)lcsh:QP1-981business.industryagingSkeletal muscleta3141aerobic capacity030104 developmental biologyEndocrinologymedicine.anatomical_structurePhysical therapyaerobinen suorituskykymedicine.symptombusinesshuman activitiesThermogenesisWeight gain030217 neurology & neurosurgeryFrontiers in Physiology
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Glycometabolic Alterations in Secondary Adrenal Insufficiency: Does Replacement Therapy Play a Role?

2018

Secondary adrenal insufficiency (SAI) is a potentially life-threatening endocrine disorder due to an impairment of corticotropin (ACTH) secretion from any process affecting the hypothalamus or pituitary gland. ACTH deficit can be isolated or associated with other pituitary failures (hypopituitarism). An increased mortality due to cardiovascular, metabolic, and infectious diseases has been described in both primary and secondary adrenal insufficiency. However, few studies have provided compelling evidences on the underlying mechanism in SAI, because of the heterogeneity of the condition. Recently, some studies suggested that inappropriate glucocorticoid (GCs) replacement therapy, as for dose…

0301 basic medicinemedicine.medical_specialtyEndocrinology Diabetes and MetabolismMini Reviewbody mass index; diabetes mellitus; glucocorticoids; impaired glucose tolerance; insulin resistance; metabolic syndrome; secondary adrenal insufficiency; weight gain030209 endocrinology & metabolismbody mass indexHypopituitarismlcsh:Diseases of the endocrine glands. Clinical endocrinologymetabolic syndromeGrowth hormone deficiencyImpaired glucose tolerance03 medical and health sciences0302 clinical medicineInsulin resistanceEndocrinologyInternal medicineDiabetes mellitusinsulin resistanceMedicineEndocrine systemlcsh:RC648-665glucocorticoidsbusiness.industryweight gainmedicine.disease030104 developmental biologyEndocrinologyimpaired glucose tolerancediabetes mellitussecondary adrenal insufficiencyMetabolic syndromebusinessGlucocorticoidmedicine.drug
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2014

Published version of an article from the journal: Food & Nutrition Research. Also available from the publisher: http://dx.doi.org/10.3402/fnr.v58.23194 Open Access

0301 basic medicinemedicine.medical_specialtyPediatrics030109 nutrition & dieteticsNutrition and Dieteticsbusiness.industryPublic Health Environmental and Occupational HealthAlternative medicine030209 endocrinology & metabolismOverweightPeer review03 medical and health sciences0302 clinical medicineFamily medicineFruits and vegetablesmedicineNutrition researchCluster randomised controlled trialmedicine.symptombusinessWeight gainWeight statusFood ScienceFood & Nutrition Research
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Female obesity increases the risk of miscarriage of euploid embryos.

2020

Objective To determine whether female body mass index (BMI) is associated with an increased risk of miscarriage after euploid embryo transfer. Design A retrospective, observational, multicenter cohort study. Setting University-affiliated in vitro fertilization center. Patient(s) In this study, 3,480 cycles of in vitro fertilization with preimplantation genetic testing for aneuploidy (PGT-A) in the blastocyst stage and euploid embryo transfer were divided into four groups according to patient BMI. Intervention(s) In vitro fertilization with PGT-A. Main Outcome Measure(s) The primary outcome was the miscarriage rate, which included both biochemical and clinical miscarriages. Secondary outcome…

0301 basic medicinemedicine.medical_specialtyPregnancy RateAneuploidyFertilization in VitroRisk AssessmentMiscarriageBody Mass IndexObesity Maternal03 medical and health sciences0302 clinical medicinePregnancyRisk FactorsMedicineHumansEmbryo ImplantationGenetic TestingPreimplantation DiagnosisRetrospective StudiesPregnancy030219 obstetrics & reproductive medicinebusiness.industryObstetricsObstetrics and Gynecologymedicine.diseaseAneuploidyEmbryo TransferEmbryo transferGestational Weight GainAbortion Spontaneous030104 developmental biologyBlastocystTreatment OutcomeReproductive MedicineSpainInfertilityembryonic structuresFemaleUnderweightmedicine.symptombusinessLive birthBody mass indexLive BirthCohort studyFertility and sterility
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