Search results for "57"

showing 10 items of 4186 documents

Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis

2012

Autosomal recessive renal tubular dysgenesis (RTD) is a severe disorder of renal tubular development characterized by early onset and persistent fetal anuria leading to oligohydramnios and the Potter sequence, associated with skull ossification defects. Early death occurs in most cases from anuria, pulmonary hypoplasia, and refractory arterial hypotension. The disease is linked to mutations in the genes encoding several components of the renin-angiotensin system (RAS): AGT (angiotensinogen), REN (renin), ACE (angiotensin-converting enzyme), and AGTR1 (angiotensin II receptor type 1). Here, we review the series of 54 distinct mutations identified in 48 unrelated families. Most of them are no…

medicine.medical_specialty2716 Genetics (clinical)10039 Institute of Medical GeneticsAngiotensinogen030232 urology & nephrologyGenes RecessivePrenatal diagnosis610 Medicine & healthPeptidyl-Dipeptidase ABiologymedicine.disease_causeReceptor Angiotensin Type 1Kidney Tubules ProximalRenin-Angiotensin System03 medical and health sciences0302 clinical medicine1311 GeneticsInternal medicineReninRenin–angiotensin systemGeneticsmedicineAnimalsHumansGenetic Association StudiesGenetics (clinical)030304 developmental biology0303 health sciencesKidneyMutationAngiotensin II receptor type 1medicine.disease3. Good healthDisease Models Animalmedicine.anatomical_structureEndocrinologyUrogenital AbnormalitiesRenal blood flowMutation570 Life sciences; biologyAnuriamedicine.symptomPotter sequence
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Diagnostic challenges and potential early indicators of breast periprosthetic anaplastic large cell lymphoma

2020

Abstract Rationale: Anaplastic large T-cell lymphoma (BI-ALCL) is a rare primitive lymphoma described in women with breast implant prostheses, which has been arousing interest in recent years due to its potentially high social impact. The difficult diagnosis associated with the high and increasing number of prosthetic implants worldwide has led to hypothesize an underestimation of the real impact of the disease among prosthesis-bearing women. The aim of this work is to search for specific radiological signs of disease linked to the chronic inflammatory pathogenetic mechanism. Patient concerns: This work describes a case of BI-ALCL in an American woman with no personal or family history of c…

medicine.medical_specialty5700Axillary lymph nodesBreast ImplantsPeriprostheticbreast magnetic resonancelaw.inventionDiagnosis Differential03 medical and health sciences0302 clinical medicinelawmedicineMammographyHumans030212 general & internal medicineClinical Case ReportAnaplastic large-cell lymphomaBreast augmentationmedicine.diagnostic_testperiprosthetic anaplastic lymphomabusiness.industryBiopsy NeedleGeneral MedicineMiddle Agedmedicine.diseaseImmunohistochemistryMagnetic Resonance Imagingmedicine.anatomical_structureSeromaanaplastic large cell lymphoma030220 oncology & carcinogenesisSeromaBreast implantLymphoma Large-Cell AnaplasticFemaleRadiologyUltrasonography MammaryDifferential diagnosisbusinessbreast implantHumanMammographyResearch ArticleMedicine
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Efficacy of a Training on Executive Functions in Potentiating Rehabilitation Effects in Stroke Patients

2021

Cognitive impairment after a stroke has a direct impact on patients’ disability. In particular, impairment of Executive Functions (EFs) interferes with re-adaptation to daily life. The aim of this study was to explore whether adding a computer-based training on EFs to an ordinary rehabilitation program, regardless of the specific brain damage and clinical impairment (motor, language, or cognitive), could improve rehabilitation outcomes in patients with stroke. An EF training was designed to have minimal motor and expressive language demands and to be applied to a wide range of clinical conditions. A total of 37 stroke patients were randomly assigned to two groups: a training group, which pe…

medicine.medical_specialtyActivities of daily livingmedicine.medical_treatmentexecutive functions; stroke patients; cognitive training; rehabilitation; brain lesionNeurosciences. Biological psychiatry. Neuropsychiatrybrain lesion050105 experimental psychologyArticlerehabilitationcognitive training03 medical and health sciences0302 clinical medicinePhysical medicine and rehabilitationBarthel scaleExecutive functionmedicine0501 psychology and cognitive sciencesStrokeRehabilitationbusiness.industryexecutive functions stroke cognitive training rehabilitation brain lesionGeneral Neuroscience05 social sciencesNeuropsychologystroke patientsExecutive functionsmedicine.diseaseexecutive functionsFunctional Independence MeasurestrokeCognitive trainingbusiness030217 neurology & neurosurgeryRC321-571Brain Sciences
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Social media use to improve communication on children and adolescent’s health: the role of the Italian Paediatric Society influencers

2021

Abstract Background Fake news on children’s and adolescent health are spreading. Internet availability and decreasing costs of media devices are contributing to an easy access to technology by families. Public health organizations are working to contrast misinformation and promote scientific communication. In this context, a new form of communication is emerging social media influencers. Aim of this study is to evaluate the role of paediatric influencers (PI) in communicating information about children and adolescents’ health. Materials and methods A group of PI was enrolled from December 2019 to January 2020 by a scientific commission nominated by the Italian Paediatric Society (SIP). PI w…

medicine.medical_specialtyAdolescentAdolescent HealthContext (language use)Pilot ProjectsPediatricsRJ1-570Social mediaInfluencermedicineHumansSocial mediaPilot ProjectMisinformationChildChildrenSocieties MedicalPediatricConsumer Health Informationbusiness.industryPublic healthResearchCommunicationChild HealthHealth InfluencerAdvertisingInfluencer marketingHealthThe InternetbusinessScientific communicationAdolescent healthHumanItalian Journal of Pediatrics
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Prevalence of attention deficit hyperactivity disorder among children and adolescents in Spain: a systematic review and meta-analysis of epidemiologi…

2012

Abstract Background Attention deficit hyperactivity disorder (ADHD) is a commonly diagnosed neuropsychiatric disorder in childhood, but the frequency of the condition is not well established in many countries. The aim of the present study was to quantify the overall prevalence of ADHD among children and adolescents in Spain by means of a systematic review and meta-analysis. Methods PubMed/MEDLINE, IME, IBECS and TESEO were comprehensively searched. Original reports were selected if they provided data on prevalence estimates of ADHD among people under 18 years old in Spain and were cross-sectional, observational epidemiological studies. Information from included studies was systematically ex…

medicine.medical_specialtyAdolescentlcsh:RC435-571UnivariateMEDLINEmedicine.diseaseConfidence intervalPsychiatry and Mental healthNeuropsychiatric disorderAttention Deficit Disorder with HyperactivitySpainlcsh:PsychiatryMeta-analysisEpidemiologyPrevalencemedicineHumansAttention deficit hyperactivity disorderObservational studyChildPsychiatryPsychologyRandomized Controlled Trials as TopicResearch ArticleClinical psychology
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Motor asymmetry attenuation in older adults during imagined arm movements

2014

International audience; Laterality is an important feature of motor behavior. Several studies have shown that lateralization in right-handed young adults (i.e., right versus left arm superiority) emerges also during imagined actions, that is when an action is internally simulated without any motor output. Such information, however, is lacking for elderly people and it could be valuable to further comprehend the evolution of mental states of action in normal aging. Here, we evaluated the influence of age on motor laterality during mental actions. Twenty-four young (mean age: 24.7 +/- 4.4 years) and 24 elderly (mean age: 72.4 +/- 3.6 years) participants mentally simulated and actually execute…

medicine.medical_specialtyAgingAGE-RELATED DIFFERENCESRIGHT HANDSCognitive NeuroscienceRight armNormal agingIMAGERYLeft armLateralization of brain functionDevelopmental psychologylcsh:RC321-571Physical medicine and rehabilitationMotor imageryArm musclemedicineYoung adultMotor asymmetrylcsh:Neurosciences. Biological psychiatry. NeuropsychiatryOriginal Researchmovement durationNONDOMINANT ARMMuscle activationCORTICOSPINAL EXCITABILITYAGING BRAINPERFORMANCEMENTAL SIMULATIONTEMPORAL FEATURESMotor asymmetryLateralityLIMB DYNAMICSMotor Imagery[ SCCO ] Cognitive sciencePsychologyNeuroscience
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Somatosensory mismatch response in young and elderly adults

2014

Aging is associated with cognitive decline and alterations in early perceptual processes. Studies in the auditory and visual sensory modalities have shown that the mismatch negativity [or the mismatch response (MMR)], an event-related potential (ERP) elicited by a deviant stimulus in a background of homogenous events, diminishes with aging and cognitive decline. However, the effects of aging on the somatosensory MMR (sMMR) are not known. In the current study, we recorded ERPs to electrical pulses to different fingers of the left hand in a passive oddball experiment in young (22–36 years) and elderly (66– 95 years) adults engaged in a visual task. The MMR was found to deviants as compared to…

medicine.medical_specialtyAginggenetic structuresCognitive Neurosciencemedia_common.quotation_subjectMismatch negativityAudiologyStimulus (physiology)Somatosensory systemta3112somatosensorylcsh:RC321-571event-related potentialEvent-related potentialPerceptionmedicineoddball conditionmismatchnegativityOriginal Research ArticleCognitive declineOddball paradigmlcsh:Neurosciences. Biological psychiatry. Neuropsychiatryta515media_commonagingevent-relatedpotentialevent-related potential (ERP)mismatch negativity (MMN)oddballconditionmedicine.anatomical_structureScalpmismatch negativityPsychologyNeuroscienceNeuroscienceoddball paradigmFrontiers in Aging Neuroscience
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Report on advances for pediatricians in 2018: allergy, cardiology, critical care, endocrinology, hereditary metabolic diseases, gastroenterology, inf…

2019

Abstract This review reported notable advances in pediatrics that have been published in 2018. We have highlighted progresses in allergy, cardiology, critical care, endocrinology, hereditary metabolic diseases, gastroenterology, infectious diseases, neonatology, nutrition, respiratory tract disorders and surgery. Many studies have informed on epidemiologic observations. Promising outcomes in prevention, diagnosis and treatment have been reported. We think that advances realized in 2018 can now be utilized to ameliorate patient care.

medicine.medical_specialtyAllergyAllergyCardiologyMEDLINEReviewRespiratory tract diseasePediatricsGastroenterologyPatient careHereditary metabolic diseasesUrinary Tract DiseasesEndocrinologyInternal medicineIntensive careHealth caremedicineHumansNeonatologyChildrenNutritionPublishingInfectious diseasebusiness.industryGastroenterologylcsh:RJ1-570lcsh:Pediatricsmedicine.diseaseSurgeryCritical careEndocrinologyBibliometricsRespiratory tract disordersCardiologyInfectious diseasesSurgeryPeriodicals as TopicNeonatologyRespiratory tract disorderbusinessHereditary metabolic diseaseItalian Journal of Pediatrics
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Current Insights on Early Life Nutrition and Prevention of Allergy

2020

The incidence of allergic diseases in childhood appears to have significantly increased over the last decades. Since environmental factors, including diet, have been thought to play a significant role in the development of these diseases, there is great interest in identifying prevention strategies related to early nutritional interventions. Breastfeeding is critical for the immune development of newborns and infants through immune-modulating properties and it impacts the establishment of a healthy gut microbiota. However, the evidence for a protective role of breastfeeding against the development of food allergy in childhood is controversial, and there is little evidence to support the ben…

medicine.medical_specialtyAllergybreastfeedingMini ReviewBreastfeedingBreast milkHealth benefitsGut floraPediatricscomplementary feedingSettore MED/38 - Pediatria Generale E SpecialisticapreventionFood allergymedicinemicrobiotaIntensive care medicinebiologybusiness.industryIncidence (epidemiology)lcsh:RJ1-570lcsh:Pediatricsmedicine.diseasebiology.organism_classificationallergyEarly lifenutritionPediatrics Perinatology and Child HealthbusinessdietFrontiers in Pediatrics
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Immersive Virtual Reality as an Adjunctive Non-opioid Analgesic for Pre-dominantly Latin American Children With Large Severe Burn Wounds During Burn …

2019

Background/Aim: Using a within-subjects, within-wound care design, this pilot study tested for the first time, whether immersive virtual reality (VR) can serve as an adjunctive non-opioid analgesic for children with large severe burn wounds during burn wound cleaning in the ICU, in a regional burn center in the United States, between 2014–2016.Methods: Participants included 48 children from 6 years old to 17 years of age with >10% TBSA burn injuries reporting moderate or higher worst pain during no VR on Day 1. Forty-four of the 48 children were from developing Latin American countries. Patients played adjunctive SnowWorld, an interactive 3D snowy canyon in virtual reality during some po…

medicine.medical_specialtyAnalgesicVirtual reality050105 experimental psychologylaw.inventionlcsh:RC321-57103 medical and health sciencesBehavioral NeuroscienceWound care0302 clinical medicineRating scalelawMedicineburn0501 psychology and cognitive sciencesSevere burnpainlcsh:Neurosciences. Biological psychiatry. NeuropsychiatryBiological PsychiatryOriginal ResearchBurn woundbusiness.industry05 social sciencesBurn centeranalgesiadeveloping countriesIntensive care unit3. Good healthcritical carePsychiatry and Mental healthNeuropsychology and Physiological PsychologyNeurologypediatric burn injuriesopioidPhysical therapyvirtual realitybusiness030217 neurology & neurosurgeryNeuroscienceFrontiers in Human Neuroscience
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