Search results for " neonate"

showing 10 items of 22 documents

Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant.

2017

Abstract The rapid advancement of next-generation sequencing (NGS) technology and the decrease in costs for whole-exome sequencing (WES) and whole-genome sequening (WGS), has prompted its clinical application in several fields of medicine. Currently, there are no specific guidelines for the use of NGS in the field of neonatal medicine and in the diagnosis of genetic diseases in critically ill newborn infants. As a consequence, NGS may be underused with reduced diagnostic success rate, or overused, with increased costs for the healthcare system. Most genetic diseases may be already expressed during the neonatal age, but their identification may be complicated by nonspecific presentation, esp…

0301 basic medicineMaleNeonatal intensive care unitDiseaseReview030105 genetics & heredityPediatricsWhole Exome SequencingNeonateNeonatalOutcome Assessment Health CareDiagnosisPolicy MakingExome sequencingSanger sequencingGenomelcsh:RJ1-570Perinatology and Child HealthSettore MED/38Intensive Care UnitsItalyWhole-exome sequencingPractice Guidelines as TopicsymbolsWESFemaleHumanDiagnosiNICUmedicine.medical_specialtyMendelian03 medical and health sciencessymbols.namesakeOutcome Assessment (Health Care)Neonatal ScreeningNeonatal intensive care unitGeneticIntensive Care Units NeonatalExome SequencingmedicineDiagnosis; Genetic; Genome; Mendelian; Neonatal intensive care unit; Neonate; NICU; WES; WGS; Whole-exome sequencing; Pediatrics Perinatology and Child HealthHumansGenetic TestingIntensive care medicineSettore MED/06 - ONCOLOGIA MEDICAGenetic heterogeneityCritically illbusiness.industryGenome HumanInfant NewbornInfantlcsh:PediatricsNewbornInfant newborn030104 developmental biologyDiagnosis; Genetic; Genome; Mendelian; NICU; Neonatal intensive care unit; Neonate; WES; WGS; Whole-exome sequencing; Female; Genetic Testing; Genome Human; Humans; Infant; Infant Newborn; Intensive Care Units Neonatal; Italy; Male; Neonatal Screening; Outcome Assessment (Health Care); Policy Making; Whole Exome Sequencing; Practice Guidelines as TopicPediatrics Perinatology and Child HealthDifferential diagnosisbusinessWGS
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miRNomic Signature in Very Low Birth-Weight Neonates Discriminates Late-Onset Gram-Positive Sepsis from Controls

2021

Background and Objectives. Neonatal sepsis is a serious condition with a high rate of mortality and morbidity. Currently, the gold standard for sepsis diagnosis is a positive blood culture, which takes 48–72 h to yield results. We hypothesized that identifying differentially expressed miRNA pattern in neonates with late-onset Gram-positive sepsis would help with an earlier diagnosis and therapy. Methods. This is a prospective observational study in newborn infants with late-onset Gram positive bacterial sepsis and non-septic controls. Complementary to blood culture, an aliquot of 0.5 mL of blood was used to determine small non-coding RNA expression profiling using the GeneChip miRNA 4.0 Arr…

0301 basic medicineMedicine (General)neonatal sepsisvery low birth-weight neonatesClinical BiochemistryArticleSepsis03 medical and health sciencesR5-9200302 clinical medicineImmune system030225 pediatricsmicroRNAmedicineBlood cultureNeonatal sepsismedicine.diagnostic_testbusiness.industrylate-onset Gram-positive sepsisGold standard (test)medicine.diseaseLow birth weight030104 developmental biologymiRNomic signatureImmunologyGene chip analysismedicine.symptomsepsis neonatalbusinessDiagnostics
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COVID-19 in Infants Less than 3 Months: Severe or Not Severe Disease?

2022

Abstract: Compared to adults, severe or fatal COVID-19 disease is much less common in children. However, a higher risk for progression has been reported in infants. Different pediatric COVID-19 severity scores are reported in the literature. Methods: Subjects under 90 days of age admitted to 35 Italian institutions for COVID-19 were included. The severity of COVID-19 was scored as mild/moderate or severe/critical following the classification reported in the literature by Venturini, Dong, Kanburoglu, and Gale. To assess the diagnostic accuracy of each classification system, we stratified all enrolled patients developing a posteriori severity score based on clinical presentation and outcomes…

AdultFeverCOVID-19.SARS-CoV-2infantsSARS-CoV-2; COVID-19; neonates; infantsCOVID-19; SARS-CoV-2; infants; neonatesInfant NewbornCOVID-19infantneonatesInfectious DiseasesCoughVirologyHumansneonateChildHumanViruses; Volume 14; Issue 10; Pages: 2256
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Exposure to Gastric Acid Inhibitors Increases the Risk of Infection in Preterm Very Low Birth Weight Infants but Concomitant Administration of Lactof…

2018

Objective: To investigate whether exposure to inhibitors of gastric acidity, such as H2 blockers or proton pump inhibitors, can independently increase the risk of infections in very low birth weight (VLBW) preterm infants in the neonatal intensive care unit. Study design: This is a secondary analysis of prospectively collected data from a multicenter, randomized controlled trial of bovine lactoferrin (BLF) supplementation (with or without the probiotic Lactobacillus rhamnosus GG) vs placebo in prevention of late-onset sepsis (LOS) and necrotizing enterocolitis (NEC) in preterm infants. Inhibitors of gastric acidity were used at the recommended dosages/schedules based on the clinical judgmen…

ColonizationProton Pump InhibitorNeonatal intensive care unitAdministration OralHistamine H2 AntagonistProbioticGastroenterologyPediatricsH2 blocker0302 clinical medicineRisk FactorsInfant Very Low Birth Weight030212 general & internal medicineCandidaVLBW neonateLacticaseibacillus rhamnosusGestational agePerinatology and Child HealthHistamine H2 AntagonistsItalyNecrotizing enterocolitismedicine.symptomInfectionInfant PrematureHumanmedicine.medical_specialtyBirth weightGastric AcidSepsis03 medical and health sciencesEnterocolitis NecrotizingIntensive Care Units NeonatalSepsis030225 pediatricsInternal medicinemedicineH2 blockersHumansDietary Supplementbusiness.industryRisk FactorProbioticsInfant NewbornProton Pump Inhibitorsmedicine.diseaseLow birth weightLactoferrinConcomitantDietary SupplementsPediatrics Perinatology and Child HealthVLBW neonatesCandida; Colonization; H2 blockers; Infection; Lactoferrin; VLBW neonates; Pediatrics Perinatology and Child HealthGastric acidLactobacillus rhamnosubusinessNew Zealand
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Resuscitation of Term Neonates with Moderate Asphyxia with Room Air or Oxygen: Consequences on the Glutathione Metabolism

1999

Glutathione metabolismAsphyxiaResuscitationbusiness.industrychemistry.chemical_elementTerm neonatesOxygenchemistryAnesthesiaPediatrics Perinatology and Child HealthRoom air distributionMedicinemedicine.symptombusinessPediatric Research
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Laboratory investigations in genetic syndromes: examples of clinical approach in the neonatal unit.

2010

Contiguous gene deletion syndromes: the importance of an accurate genetic definition for a careful clinical monitoring. Contiguous gene deletion syndromes are so named because the deletion manifests as a distinctive cluster of otherwise unrelated single-gene disorders in the same subject. An accurate genetic definition of the deleted region is extremely important for the appropriate management of these patients and for unravelling the function of the involved genes. The microarray-based comparative genomic hybridization (CGH arrays) analysis is the actual molecular method able to accurately define the bounds of a deleted region, since it allows an evaluation of DNA copy number alterations a…

MaleComparative Genomic Hybridizationgenetic syndrome neonategenetic syndromesDisorders of Sex DevelopmentGene DosageGenetic Diseases InbornInfant NewbornLaboratories HospitalEarly DiagnosisPhenotypeSettore MED/38 - Pediatria Generale E SpecialisticaIntensive Care Units NeonatalIntensive Care NeonatalChromosomes HumanHumansFemaleGenetic TestingGene Deletion
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Meconial peritonitis in a rare association of partial ileal apple-peel atresia with small abdominal wall defect.

2014

Intestinal atresia type III B (apple peel) and gastroschisis are both congenital malformations who require early surgical correction in neonatal age. Their association is very rare. We present the case of a full term infant with partial apple peel ileal atresia and a small defect of the anterior abdominal wall, complicated by in utero intestinal perforation and subsequent meconial peritonitis. We observed a partial atresia of small intestine, with involvement of terminal ileus savings of jejunum and a large part of the proximal ileum, small anterior abdominal wall defect with herniation of few bowel loops, intestinal malrotation. Paralytic ileus and infections are the main causes of morbidi…

MaleMeconiummedicine.medical_specialtyIleuslcsh:SurgeryIntestinal AtresiaBacteremiaPeritonitisAbdominal wallFatal Outcomeapple-peelnewbornIleummedicinemeconial peritonitisHumansmeconium peritonitis neonatebusiness.industryGastroschisisAbdominal wall defectSettore MED/20 - Chirurgia Pediatrica E InfantileIntestinal atresiaAbdominal Wallgastroschisislcsh:RJ1-570Infant NewbornIleal Atresialcsh:Pediatricslcsh:RD1-811medicine.diseaseSurgeryHernia AbdominalAbdominal wall defectmedicine.anatomical_structureIntestinal malrotationIntestinal PerforationAtresiaPediatrics Perinatology and Child HealthUterine PerforationSurgeryFemalebusinessLa Pediatria medica e chirurgica : Medical and surgical pediatrics
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Short-Term Neurodevelopmental Outcome in Term Neonates Treated with Phenobarbital versus Levetiracetam: A Single-Center Experience

2019

Background. Phenobarbital (PB) has been traditionally used as the first-line treatment for neonatal seizures. More recently, levetiracetam (LEV) has been increasingly used as a promising newer antiepileptic medication for treatment of seizures in neonates. Objectives. The aim of our study was to compare the effect of PB vs. LEV on short-term neurodevelopmental outcome in infants treated for neonatal seizures. Method. This randomized, one-blind prospective study was conducted on term neonates admitted to the Neonatal Intensive Care Unit of S. Bambino Hospital, University Hospital “Policlinico-Vittorio Emanuele,” Catania, Italy, from February 2016 to February 2018. Thirty term neonates with s…

MalePediatricsmedicine.medical_specialtyNeonatal intensive care unitLevetiracetamArticle Subjectneonatal seizures levetiracetam neurodevelopmental outcomemedicine.medical_treatmentneonatal seizuresNeurological examinationNeurosciences. Biological psychiatry. NeuropsychiatrySingle CenterNO03 medical and health sciences0302 clinical medicineSeizures030225 pediatricsmedicineHumansProspective StudiesProspective cohort studymedicine.diagnostic_testbusiness.industryInfant NewbornAnticonvulsants Treatment Outcome Infant Newborn Italy Levetiracetam Neurodevelopmental Disorders Phenobarbital SeizuresInfantPhenobarbital; neonatal seizures; LevetiracetamGeneral MedicineTerm neonatesNewbornNeuropsychology and Physiological PsychologyAnticonvulsantTreatment OutcomeNeurologyItalyNeurodevelopmental DisordersPhenobarbitalClinical StudyPhenobarbitalFemaleAnticonvulsantsNeurology (clinical)Levetiracetambusiness030217 neurology & neurosurgerymedicine.drugRC321-571Behavioural Neurology
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A New Model of Oxidative Stress in Rat Pups

2007

<i>Background:</i> With current evidence, no specific oxygen concentration can yet be recommended in the resuscitation of the depressed term neonate. <i>Objectives:</i> To design a neonatal rat model of resuscitation that mimics birth hypoxia and allows the study of the effects of resuscitation on outcome. <i>Methods:</i> Several key determinants were established utilizing P12 Sprague-Dawley rat pups. These include the ventilatory settings necessary to maintain normocarbic conditions and the amount and duration of hypoxia required to cause significant disruption of oxidative metabolism in the subjects’ brains. Biochemical and cellular markers of oxidative…

Malemedicine.medical_specialtyResuscitationResuscitationmedicine.disease_causeRats Sprague-DawleyRandom AllocationAdenosine TriphosphateAnimal modelInternal medicinemedicineAnimalsHumansHyperoxiaAsphyxia NeonatorumNeonatal ratHistocytochemistrybusiness.industryfungiInfant Newbornfood and beveragesTerm neonatesGlutathioneRespiration ArtificialRatsOxygenDisease Models AnimalOxidative StressEndocrinologyAnimals NewbornAnesthesiaHypoxia-Ischemia BrainPediatrics Perinatology and Child HealthFemaleLimiting oxygen concentrationmedicine.symptombusinessOxidative stressDevelopmental BiologyNeonatology
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A giant fetal urinoma in a neonate without detectable obstructive uropathy

2003

UNLABELLED Fetal urinoma is an uncommon finding in prenatal investigations. Most previous reports have, almost in every case, referred to the presence of an obstructive uropathy and thus to very high pressure in the upper urinary tract during fetal life. In this paper we present a prenatally detected fetal giant urinoma occurring in the absence of an apparent obstructive uropathy but associated with an ipsilateral vesico-ureteral reflux. CASE REPORT A 5-day-old boy, born after a caesarean section in the 37th week of gestation, but without any perinatal distress, came under our observation because of the evidence of a right upper quadrant abdominal mass. This mass had already been detected p…

Malemedicine.medical_specialtyVoiding cystourethrogrammedicine.medical_treatmentFetal urinomaPercutaneous nephrostomySyringoceleUrineurologic and male genital diseasesVesicoureteral refluxNeonateNephrostomy PercutaneouMedicineHumansObstructive uropathyUpper urinary tractNephrostomy PercutaneousUltrasonographymedicine.diagnostic_testFetal urinoma; Neonate; Percutaneous nephrostomy; Syringocele; Vesico-ureteral reflux; Cysts; Drainage; Humans; Infant Newborn; Infant Premature; Male; Nephrostomy Percutaneous; Urine; Pediatrics Perinatology and Child Healthbusiness.industryCystsRefluxInfant NewbornVesico-ureteral refluxmedicine.diseaseUrinomaSurgeryStenosisCystNephrostomyPediatrics Perinatology and Child HealthDrainageSurgerybusinessInfant PrematureHuman
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