Search results for "Neon"
showing 10 items of 760 documents
Biomarkers of Oxidative Stress for Neonatal Lung Disease
2021
The transition from prenatal to postnatal life causes a significant increase in arterial oxygen tension and the activation of metabolic pathways enabling the newborn's adaptation to the extra-uterine environment. The balance between pro-oxidant and anti-oxidant systems is critical to preserve cellular functions. Indeed, oxidative stress (OS) occurs when the production of free radicals is not balanced by the activity of intracellular antioxidant systems, contributing to cellular and tissue damage. Perinatal OS may have serious health consequences during the postnatal period and later in life. Namely, OS has been recognized as the major cause of lung injury in newborns, especially those prete…
International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome
2018
Abstract Aim Mucopolysaccharidosis type I is a lysosomal storage disorder that can result in significant disease burden, disability and premature death, if left untreated. The aim of this review was to elaborate on the diagnosis of mucopolysaccharidosis type I and the pros and cons of newborn screening. Methods An international working group was established to discuss ways to improve the early diagnosis of mucopolysaccharidosis type I. It consisted of 13 experts in paediatrics, rare diseases and inherited metabolic diseases from Europe and the Middle East. Results It is becoming increasingly clearer that the delay between symptom onset and clinical diagnosis is considerable for mucopolysacc…
Validation of the Sepsis MetaScore for Diagnosis of Neonatal Sepsis
2016
What’s known on this subject Neonates are at increased risk for developing sepsis, but this population often exhibits ambiguous clinical signs that complicate the diagnosis of infection. No biomarker has yet shown enough diagnostic accuracy to rule out sepsis at the time of clinical suspicion. What this study adds We show that a gene-expression-based signature is an accurate objective measure of the risk of sepsis in a neonate or preterm infant, and it substantially improves diagnostic accuracy over that of commonly used laboratory-based testing. Implementation might decrease inappropriate antibiotic use. Background Neonatal sepsis can have devastating consequences, but accurate diagnosis i…
miR-23b and miR-218 silencing increase Muscleblind-like expression and alleviate myotonic dystrophy phenotypes in mammalian models
2018
Functional depletion of the alternative splicing factors Muscleblind-like (MBNL 1 and 2) is at the basis of the neuromuscular disease myotonic dystrophy type 1 (DM1). We previously showed the efficacy of miRNA downregulation in Drosophila DM1 model. Here, we screen for miRNAs that regulate MBNL1 and MBNL2 in HeLa cells. We thus identify miR-23b and miR-218, and confirm that they downregulate MBNL proteins in this cell line. Antagonists of miR-23b and miR-218 miRNAs enhance MBNL protein levels and rescue pathogenic missplicing events in DM1 myoblasts. Systemic delivery of these “antagomiRs” similarly boost MBNL expression and improve DM1-like phenotypes, including splicing alterations, histo…
Apert Syndrome With FGFR2 758 C > G Mutation: A Chinese Case Report
2018
Background: Apert syndrome is considered as one of the most common craniosynostosis syndromes with a prevalence of 1 in 65,000 individuals, and has a close relationship with point mutations in FGFR2 gene.Case report: Here, we described a Apert syndrome case, who was referred to genetic consultation in our hospital with the symptom of craniosynostosis and syndactyly of the hands and feet. Craniosynostosis, midfacial retrusion, steep wide forehead, larger head circumference, marked depression of the nasal bridge, short and wide nose and proptosis could be found obviously, apart from these, ears were mildly low compared with normal children and there was no cleft lip and palate. Mutation was i…
Therapeutic Potential of AntagomiR-23b for Treating Myotonic Dystrophy
2020
Myotonic dystrophy type 1 (DM1) is a chronically debilitating, rare genetic disease that originates from an expansion of a noncoding CTG repeat in the dystrophia myotonica protein kinase (DMPK) gene. The expansion becomes pathogenic when DMPK transcripts contain 50 or more repetitions due to the sequestration of the muscleblind-like (MBNL) family of proteins. Depletion of MBNLs causes alterations in splicing patterns in transcripts that contribute to clinical symptoms such as myotonia and muscle weakness and wasting. We previously found that microRNA (miR)-23b directly regulates MBNL1 in DM1 myoblasts and mice and that antisense technology (“antagomiRs”) blocking this microRNA (miRNA) boost…
Methods for assessing the severity of perinatal asphyxia and early prognostic tools in neonates with hypoxic-ischemic encephalopathy treated with the…
2020
Despite the progress in perinatal care, perinatal asphyxia (PA) remains a significant problem in neonatology. The development of therapeutic hypothermia (TH) has improved the prognosis, but it still remains uncertain in hypoxic neonates. The evaluation of the severity of ischemia/hypoxia after birth is crucial to the choice of treatment, and with accurate long-term prognosis, appropriate further patient care can be planned. This article presents various methods for the preliminary assessment of brain damage and prognosis in newborns with PA treated with TH. The importance of assessing the neurological condition and the usefulness of laboratory and electrophysiological testing and imaging ar…
Testing Smell When It Is Really Vital: Behavioral Assays of Social Odors in the Neonatal Mouse
2013
The initial interactions of mouse newborns with their mother are crucial for their survival. These interactions rapidly end in the pups reaching nipples and getting milk. While we realize that olfaction is clearly prevailing in the success of these first suckling episodes, we still understand little about the nature and range of the natural odorants involved. Here we non-exhaustively describe some experimental principles and methods to assay the behavior of newly born and infant mice exposed to different odor stimuli from conspecifics. Testing neonatal and young mice with chemostimuli which they are evolutionarily or developmentally canalized to detect may be a productive way to trace unant…
Effects of maternal singing during kangaroo care on maternal anxiety, wellbeing, and mother-infant relationship after preterm birth: a mixed methods …
2020
Introduction: Preterm birth may disturb the typical development of the mother– infant relationship, when physical separation and emotional distress in the neonatal intensive care unit may increase maternal anxiety and create challenges for early interaction. This cluster-randomized controlled trial examined the effects of maternal singing during kangaroo care on mothers’ anxiety, wellbeing, and the early mother– infant relationship after preterm birth. Method: In the singing intervention group, a certified music therapist guided the mothers (n = 24) to sing or hum during daily kangaroo care during 33–40 gestational weeks (GW). In the control group, the mothers (n = 12) conducted daily kanga…
Alkoholinkäytön aiheuttama liikennekuoleman riski Suomessa
2023
Tässä tutkimuksessa analysoidaan juopumuksen asteen vaikutusta kuolemaan johtavan liikenneonnettomuuden riskiin moderneilla tilastollisilla menetelmillä. Tutkimuksen pääaineistona ovat vuosina 2005–2014 Suomessa tapahtuneet kuolemaan johtaneet moottoriajoneuvo-onnettomuudet, joissa oli mukana henkilöauto aiheuttajana tai muuna osallisena. Pääaineistoa täydennetään ratsiatutkimuksista julkaistuilla tilastoilla. Keskeisiä käytettyjä mittareita ovat riskisuhde sekä vakioitu riskisuhde, josta on poistettu sekoittavien muuttujien vaikutusta. Tutkimuksen ensimmäisenä tavoitteena on selvittää, miten pieni veren alkoholipitoisuus alkaa lisätä liikenneonnettomuuden riskiä, ja toisena tavoitteena on …