Search results for " Newborn [Medical Subject Headings]"

showing 4 items of 4 documents

A Multicentre Pilot Study of a Two-Tier Newborn Sickle Cell Disease Screening Procedure with a First Tier Based on a Fully Automated MALDI-TOF MS Pla…

2019

The reference methods used for sickle cell disease (SCD) screening usually include two analytical steps: a first tier for differentiating haemoglobin S (HbS) heterozygotes, HbS homozygotes and β-thalassemia from other samples, and a confirmatory second tier. Here, we evaluated a first-tier approach based on a fully automated matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) platform with automated sample processing, a laboratory information management system and NeoSickle® software for automatic data interpretation. A total of 6701 samples (with high proportions of phenotypes homozygous (FS) or heterozygous (FAS) for the inherited genes for sickle h…

MALDI-TOFPediatricsmedicine.medical_specialtythalassemia[SDV]Life Sciences [q-bio]Sample (statistics)01 natural sciencesArticle03 medical and health sciencesImmunology and Microbiology (miscellaneous)preventionmedicineDisease Screening Procedure030304 developmental biologymass spectrometry0303 health sciencesNewborn screeningbusiness.industryMALDI-TOF; sickle cell disease; newborn screening; mass spectrometry; thalassemia; preventionnewborn screening010401 analytical chemistrylcsh:RJ1-570Obstetrics and GynecologyData interpretationlcsh:Pediatrics0104 chemical sciencesMatrix-assisted laser desorption/ionizationFully automatedSickle haemoglobinPediatrics Perinatology and Child Healthsickle cell diseaseSample collectionbusinessInternational Journal of Neonatal Screening
researchProduct

Survey of Italian pediatricians’ perspectives and knowledge about neonatal screening

2015

Background The goal of newborn screening is early identification of babies with a high risk for disorders that may not be clinically evident at birth, but have severe consequences if untreated. New insight into inherited diseases and the ability to test for numerous diseases using new technique such as tandem mass spectrometry have made it practical to greatly expand the number of conditions tested. The expanded neonatal screening is now available and relatively simple, but this represents only a part of the picture. Positive results require follow-up confirmation. Most disorders screened require confirmatory biochemical or genetic tests and specialist visits. An efficient system is needed …

Newborn screeningHealth Knowledge Attitudes PracticePediatricsmedicine.medical_specialtyPRIMARY CONTACTMEDLINEHealth knowledgePediatricsInfant Newborn DiseasesExpanded newborn screeningNeonatal ScreeningExpanded newborn screening; Newborn screening; Pediatricians; Survey; Pediatrics Perinatology and Child HealthTandem Mass SpectrometryPediatricianHumansMedicinePediatriciansSurveyIntensive care medicineNewborn screeningbusiness.industryMaternal and child healthResearchInfant NewbornItalyPediatrics Perinatology and Child HealthbusinessItalian Journal of Pediatrics
researchProduct

Universal newborn hearing screening in the Italian Region of Sicily in 2018

2021

We have clarified the role of Universal Neonatal Hearing Screening (UNHS) for both early diagnosis and rapid treatment in order to improve the prognosis of the deaf child and reduce patient management costs. Although in Sicily UNHS has been progressively implemented, there is scarce data in the literature on this matter. Therefore, the main objective was to collect in the year 2018 the following data: number of newborns screened for hearing loss, number of infants "referred" to transiently evoked otoacoustic emissions (TEOAE), number of infants with pathologic auditory brainstem response (ABR) and number of infants affected by permanent hearing loss.UNHS monitoring was conducted through the…

Scarce dataPediatricsmedicine.medical_specialtyHearing lossOtoacoustic Emissions SpontaneousHearing screeningcongenital deafnessscreening universale uditivo neonataleNeonatal ScreeningCongenital deafness Neonatal hearing loss Universal newborn hearing screening Child Evoked Potentials Auditory Brain Stem Hearing Tests Humans Infant Newborn Otoacoustic Emissions Spontaneous Sicily Hearing Loss Neonatal ScreeningEpidemiologyEvoked Potentials Auditory Brain StemmedicineHumansneonatal hearing lossCongenital deafness; Neonatal hearing loss; Universal newborn hearing screening; Child; Evoked Potentials Auditory Brain Stem; Hearing Tests; Humans; Infant; Infant Newborn; Otoacoustic Emissions Spontaneous; Sicily; Hearing Loss; Neonatal ScreeningChildHearing LossEvoked PotentialsAuditorySicilyNeonatal hearing lossbusiness.industrySpontaneousHearing TestsBilateral hearing lossInfant NewbornInfantAudiologyNewbornuniversal newborn hearing screeningsordità congenitaPatient managementcongenital deafness; neonatal hearing loss; universal newborn hearing screening.General EnergyAuditory brainstem responseipoacusia neonataleOtorhinolaryngologymedicine.symptombusinessOtoacoustic EmissionsBrain StemActa Otorhinolaryngologica Italica
researchProduct

Detección precoz de la hipoacusia, influencia en el diagnóstico y en el tratamiento temprano

2021

Detección precoz de la hipoacusia, influencia en el diagnóstico y en el tratamiento temprano. INTRODUCCIÓN: La hipoacusia es el déficit sensorial mas frecuente en los países desarrollados. La prevalencia de cualquier grado de hipoacusia es de un 2-3 % de la población infantil y el 80% de las mismas, está presente al nacimiento. Los programa de screening auditivo (SA) se justifican por la alta incidencia de la hipoacusia y sus consecuencias devastadoras para el lenguaje cuando no se detecta precozmente. OBJETIVO: Establecer el número de niños diagnosticados de hipoacusia congénita gracias al SA en el hospital Universitario La Fe. Analizamos las técnicas utilizadas en el cribado, los parámetr…

age at screenotoacoustic emissions:CIENCIAS MÉDICAS [UNESCO]neonatal hearing screeninguniversal newborn hearing screeningearly interventionautomated auditory brainstem responsehearing impairment aetiologyevoked potentials auditoryUNESCO::CIENCIAS MÉDICASrisk factorsepidemiologyreferral ratecongenital hearing lossearly diagnosis
researchProduct