{"title":"Family Reflections: Neurofibromatosis and our family perspective.","authors":"Jennifer Krawchyk","doi":"10.1038/s41390-024-03637-y","DOIUrl":"https://doi.org/10.1038/s41390-024-03637-y","url":null,"abstract":"","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472079","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Matilde Taddei, Francesca Tinelli, Flavia Faccio, Daria Riva, Sara Bulgheroni
{"title":"Visual pathways functioning in healthy pre-term adolescents: Sex but not gestational age effect.","authors":"Matilde Taddei, Francesca Tinelli, Flavia Faccio, Daria Riva, Sara Bulgheroni","doi":"10.1038/s41390-024-03513-9","DOIUrl":"https://doi.org/10.1038/s41390-024-03513-9","url":null,"abstract":"<p><strong>Background: </strong>Visuo-spatial and visuo-perceptual functioning is widely studied in preterm child and is strongly sex-specific. However, little to no data is available regarding male-female differences in preterm children and adolescents and about the interaction effect between sex and preterm birth.</p><p><strong>Methods: </strong>We studied 30 adolescents born preterm with normal cognitive and clinical neurological outcomes and 34 age-matched controls to investigate the interaction between levels of prematurity and sex in predicting the outcome of visual pathways functioning and to explore the relation between psychophysiological perceptive processing and neuropsychological performance.</p><p><strong>Results: </strong>In the presence of prematurity, a greater female vulnerability in central visuo-cognitive processing (Form Coherence Task), but not in neuropsychological accuracy (Street Completion Test and Visual Object and Space Perception battery), seems to be more evident. Moreover, the psychophysical threshold is correlated to neuropsychological accuracy only in preterm females and not in males.</p><p><strong>Conclusion: </strong>These results support the idea that the male vulnerability in cognitive functioning described in prematurity-related developmental conditions is negligible during school age in children-adolescents with normal cognitive and clinical neurological outcomes.</p><p><strong>Impact: </strong>Visuo-perceptual functioning is widely studied in prematurity. However, few data are available about the interaction effect between sex and preterm birth in predicting visuo-perceptual functioning. We evidenced that in females born preterm with preserved cognitive abilities, the efficiency of the psychophysical visuo-perceptual threshold is reduced, but not related to the neuropsychological performance. Females may implement compensation strategies to achieve good performance regardless of the perceptual threshold. The present study addresses an important gap in literature, suggesting possible sex-specific outcomes in visuo-perceptual ability among preterm children and adolescents with normal intelligence and neurological outcomes.</p>","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472094","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pei Wen Tung, Tessa R Bloomquist, Andrea A Baccarelli, Julie B Herbstman, Virginia Rauh, Frederica Perera, Jeff Goldsmith, Amy Margolis, Allison Kupsco
{"title":"Mitochondrial DNA copy number and neurocognitive outcomes in children.","authors":"Pei Wen Tung, Tessa R Bloomquist, Andrea A Baccarelli, Julie B Herbstman, Virginia Rauh, Frederica Perera, Jeff Goldsmith, Amy Margolis, Allison Kupsco","doi":"10.1038/s41390-024-03653-y","DOIUrl":"https://doi.org/10.1038/s41390-024-03653-y","url":null,"abstract":"<p><strong>Background: </strong>Low mitochondria DNA copy number (mtDNAcn) has been linked to cognitive decline. However, the role of mtDNAcn in healthy cognitive development is unclear. We hypothesized early-life mtDNAcn would be associated with children's learning and memory.</p><p><strong>Methods: </strong>We quantified mtDNAcn in umbilical cord blood and child blood at ages 5-7 from participants in a prospective birth cohort. We administered the Children's Memory Scale (CMS) at ages 9-14 (N = 342) and the Wechsler Intelligence Scale for Children (WISC-IV) at ages 7 and 9 (N = 457). Associations between mtDNAcn tertiles and CMS and WISC were evaluated with linear regression and linear mixed-effects models, respectively. We examined non-linear associations using generalized additive mixed models.</p><p><strong>Results: </strong>Relative to the middle tertile of mtDNAcn, lower childhood mtDNAcn was associated with lower WISC Working Memory (β = -2.65, 95% CI [-5.24, -0.06]) and Full-Scale IQ (β = -3.71 [-6.42, -1.00]), and higher CMS Visual Memory (β = 4.70 [0.47, 8.93]). Higher childhood mtDNAcn was linked to higher CMS Verbal Memory (β = 7.75 [2.50, 13.01]). In non-linear models, higher childhood mtDNAcn was associated with lower WISC Verbal Comprehension.</p><p><strong>Conclusions: </strong>Our study provides novel evidence that mtDNAcn measured in childhood is associated with children's neurocognitive performance. mtDNAcn may be a marker of healthy child development.</p><p><strong>Impact: </strong>Mitochondrial DNA copy number (mtDNAcn) may serve as a biomarker for early-life neurocognitive performances in the children's population. Both low and high mtDNAcn may contribute to poorer neurocognition, reflected through learning and memory abilities. This research elucidated the importance of investigating mitochondrial biomarkers in healthy populations and facilitated advancements of future studies to better understand the associations between mitochondrial markers and adverse children's health outcomes.</p>","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472082","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Alison W Ha, Tara Sudhadevi, Anjum Jafri, Cathy Mayer, Peter M MacFarlane, Viswanathan Natarajan, Anantha Harijith
{"title":"Bronchopulmonary dysplasia demonstrates dysregulated autotaxin/lysophosphatidic acid signaling in a neonatal mouse model.","authors":"Alison W Ha, Tara Sudhadevi, Anjum Jafri, Cathy Mayer, Peter M MacFarlane, Viswanathan Natarajan, Anantha Harijith","doi":"10.1038/s41390-024-03610-9","DOIUrl":"https://doi.org/10.1038/s41390-024-03610-9","url":null,"abstract":"<p><strong>Background: </strong>Bronchopulmonary dysplasia (BPD) is a chronic lung disease affecting premature infants who require oxygen supplementation and ventilator therapy to support their underdeveloped lungs. Autotaxin (ATX), an enzyme that generates the bioactive phospholipid lysophosphatidic acid (LPA), which acts via G-protein coupled receptors, has been implicated in numerous pulmonary diseases. In this study, we explored the pathophysiological role of the ATX/LPA signaling pathway in BPD.</p><p><strong>Methods: </strong>Neonatal mice were exposed to normoxia or hyperoxia (85%) for 14 days from birth while being treated with vehicle, ATX inhibitor or LPA receptor 1 (LPA<sub>1</sub>) inhibitor. In vitro studies utilized human lung fibroblast (HLF) cells exposed to room air, 85% oxygen, or LPA for varying time periods. Supernatants and cells were collected for assays and Western blotting.</p><p><strong>Results: </strong>Animals exposed to hyperoxia showed elevated expression of ATX, ATX activity, and LPA<sub>1</sub>. Inhibiting ATX or LPA<sub>1</sub> improved alveolarization, reduced inflammation, and mitigated extracellular matrix deposition and lysyl oxidase (LOX) expression. LPA<sub>1</sub> inhibition leading to reduced LOX expression was associated with a reduction in phosphorylation of AKT.</p><p><strong>Conclusion: </strong>Hyperoxia increases the expression of ATX and LPA<sub>1</sub> associated with increased LOX in the lungs. Targeting the ATX/LPA<sub>1</sub> pathway could be a potential therapeutic approach to BPD.</p><p><strong>Impact: </strong>Exposure to hyperoxia increases the expression and activity of autotaxin (ATX), as well as expression of LPA receptor 1 (LPA<sub>1</sub>). Increased expression of ATX influences extra cellular matrix (ECM) remodeling. Inhibitors targeting the ATX/LPA pathway could offer a new therapeutic approach to bronchopulmonary dysplasia (BPD), potentially mitigating ECM deposition and improving lung development.</p>","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472071","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Srirupa Hari Gopal, Kelly Frances Martinek, Candice Vacher, Judith Becker, Nidhy P Varghese, Betul Yilmaz Furtun, Joseph L Hagan, Sharada H Gowda, Mohan Pammi, Sridevi Devaraj, Caraciolo J Fernandes
{"title":"Utility of urinary NT-proBNP in congenital diaphragmatic hernia: a prospective pilot study.","authors":"Srirupa Hari Gopal, Kelly Frances Martinek, Candice Vacher, Judith Becker, Nidhy P Varghese, Betul Yilmaz Furtun, Joseph L Hagan, Sharada H Gowda, Mohan Pammi, Sridevi Devaraj, Caraciolo J Fernandes","doi":"10.1038/s41390-024-03600-x","DOIUrl":"https://doi.org/10.1038/s41390-024-03600-x","url":null,"abstract":"<p><strong>Background: </strong>Echocardiography is the reference standard for diagnosing pulmonary hypertension (PH) and cardiac dysfunction (CD) in congenital diaphragmatic hernia (CDH). The use of an adjunct non-invasive biomarker would be invaluable. Plasma N-terminal brain Natriuretic Peptide (NT-proBNP) has been evaluated as a biomarker in CDH. Our objective was to investigate the utility of urinary NT-proBNP as an adjunct biomarker in CDH.</p><p><strong>Methods: </strong>Prospective observational study of neonates with CDH. Urinary NT-proBNP and its ratio to urinary creatinine (UNBCR) were analyzed at 24 h of life (HOL). Spearman's correlation was used to quantify the association between the urinary NT-proBNP with corresponding plasma concentrations. Logistic regression and receiver operating characteristic (ROC) curve analyses were used to examine urinary NT-proBNP and UNBCR's association with need for ECMO. The Kruskal-Wallis test was used to compare urinary NT-proBNP concentrations with echocardiography parameters of PH and CD.</p><p><strong>Results: </strong>Urinary NT-proBNP and UNBCR positively correlated with plasma concentrations. Patients with high right ventricular (RV) pressures had higher urinary NT-proBNP concentrations. Both urinary NT-proBNP and UNBCR concentrations increased with worsening left and right ventricular dysfunction on first postnatal echocardiogram.</p><p><strong>Conclusion: </strong>We report the feasibility of urinary NT-proBNP as a non-invasive biomarker to assess PH and CD in CDH.</p><p><strong>Impact statement: </strong>Non-invasive biomarkers are an important area of research in neonates as they have the potential to decrease the need for blood sampling, which may cause pain, stress, and induce iatrogenic anemia. Use of non-invasive biomarkers could be especially useful in congenital diaphragmatic hernia (CDH) who may need Extra-Corporeal Life Support (ECLS) for their management. We evaluated the potential utility of the urinary NT-proBNP in CDH. Plasma NT-proBNP has been studied in neonates with CDH; however, urinary NT-proBNP has not been explored, making this the first study to examine its potential as a biomarker.</p>","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472093","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Academic activism: choosing the right time and the right place.","authors":"Bryan Stevenson, Michael R DeBaun","doi":"10.1038/s41390-024-03628-z","DOIUrl":"https://doi.org/10.1038/s41390-024-03628-z","url":null,"abstract":"","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472068","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Parenting and outcomes for children with cerebral palsy.","authors":"Mary Lauren Neel","doi":"10.1038/s41390-024-03615-4","DOIUrl":"https://doi.org/10.1038/s41390-024-03615-4","url":null,"abstract":"","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472085","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Kaloyan Mitev, Kelsey L Frewin, Maria Augustinova, Paula M Niedenthal, Magdalena Rychlowska, Ross E Vanderwert
{"title":"The who, when, and why of pacifier use.","authors":"Kaloyan Mitev, Kelsey L Frewin, Maria Augustinova, Paula M Niedenthal, Magdalena Rychlowska, Ross E Vanderwert","doi":"10.1038/s41390-024-03540-6","DOIUrl":"https://doi.org/10.1038/s41390-024-03540-6","url":null,"abstract":"<p><strong>Background: </strong>Social and familial consequences of pacifier use remain poorly understood. The present study attempts to shed more light on the characteristics of parents using pacifiers with their infants and to explore how pacifier use affects perceptions of infant emotionality, maternal stress, and parental efficacy.</p><p><strong>Methods: </strong>The study sample consisted of 428 mothers (range: 17-49 years) of infants (0-36 months) who completed a comprehensive questionnaire assessing infant and parent characteristics as well as parenting practices and pacifier use. We compared attitudes toward pacifiers, parenting stress, children's levels of reactivity and self-regulation, and maternal efficacy among Pacifier Users, Never-Users, and families that Tried-Pacifiers.</p><p><strong>Results: </strong>The reported results reveal benefits of pacifier use for the family relationships, namely reduced parenting stress (p = 0.018), better parent-child dynamics (p < 0.001), and more positive perceptions of child's affectivity (p = 0.006), which are all important aspects of infant development.</p><p><strong>Conclusion: </strong>Our findings highlight developmental benefits of pacifier use, a practice that is known to have both positive and negative long-term consequences for healthy child development. It is, therefore, important for health professionals to have discussions about the pros and cons of pacifier use with parents.</p><p><strong>Impact: </strong>The study provides novel insights into how and why mothers use pacifiers and into the psychological consequences of this practice. We found pacifier use is associated with less maternal stress, better mother-child dynamics, and more positive perceptions of child's affectivity. Our findings document developmental benefits of pacifier use adding a new perspective to the debate on pacifiers. Doctors, health visitors, pediatric nurses, and midwives may consider this evidence when advising parents on pacifier use.</p>","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472092","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Dr. Victor Stanley Blanchette (1945-2024): a titan at Toronto's SickKids.","authors":"Max J Coppes, Margaret L Rand, Manuel D Carcao","doi":"10.1038/s41390-024-03657-8","DOIUrl":"https://doi.org/10.1038/s41390-024-03657-8","url":null,"abstract":"","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472075","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Refocusing on the denominator for research on racial disparities among preterm infants.","authors":"Diana Montoya-Williams, Scott A Lorch","doi":"10.1038/s41390-024-03658-7","DOIUrl":"https://doi.org/10.1038/s41390-024-03658-7","url":null,"abstract":"","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472087","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}