Journal of paediatrics and child health最新文献

{"title":"A Single Centre's Experience of Non-Iatrogenic Neonatal Bilateral Vocal Cord Paralysis.","authors":"Ezra Lluís Nisa, Karen Davies, Anastasia Pellicano, Natalie Duffy","doi":"10.1111/jpc.70070","DOIUrl":"https://doi.org/10.1111/jpc.70070","url":null,"abstract":"<p><strong>Objectives: </strong>To review our institutional experience with bilateral vocal cord paralysis (BVCP) of non-iatrogenic origin in neonates, with a particular focus on diagnostic methods and the changing role of tracheostomy and non-invasive ventilation.</p><p><strong>Study design: </strong>Retrospective, single-centre study at a tertiary paediatric hospital.</p><p><strong>Methods: </strong>Our BVCP population was reviewed (2003-2020). We extracted demographics, diagnostic methods (endoscopy and imaging), methods of respiratory/ventilatory support, and functional outcomes.</p><p><strong>Results: </strong>60 neonates with BVCP were included. All underwent endoscopic assessment, revealing synchronous airway lesions in 20% of the cases. Brain MRIs were obtained in 55/60 patients and showed anomalies in 30% of the cases, particularly intracranial haemorrhages, with only one structural anomaly of the brain. Approximately two-thirds of the children required respiratory/ventilatory support, and 16/60 children received tracheostomies. We observed a progressive reduction in the use of tracheostomies over the study period, with in parallel a longer length of respiratory or ventilator support. 4/16 children remained tracheostomy dependent at last follow-up, all of them with associated comorbidities. The only significant feature associated with the need for tracheostomy was previous intubation. Overall, almost 40% of the children needed nutritional support at discharge. No deaths related to BVCP occurred.</p><p><strong>Conclusion: </strong>We observed a significant decrease in the use of tracheostomies within the study period. The need for intubation and existence of comorbidities seems to be the most relevant outcome factors. Incomplete recovery and swallowing impairment are common, thus warranting long-term follow-up.</p>","PeriodicalId":16648,"journal":{"name":"Journal of paediatrics and child health","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144015321","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neonatal Cholestasis: Exploring Genetic Causes and Clinical Outcomes.","authors":"Neslihan Gürcan Kaya, Hakan Öztürk, Sinan Sarı, Ödül Eğritaş Gürkan, Buket Dalgıç","doi":"10.1111/jpc.70072","DOIUrl":"https://doi.org/10.1111/jpc.70072","url":null,"abstract":"<p><strong>Introduction: </strong>Neonatal cholestasis is a group of disorders characterised by conjugated hyperbilirubinemia in the newborns and young infants. Advances in genetic testing have facilitated the identification of specific aetiology. This study examines the genetic and clinical profiles of neonates with cholestasis, focusing on genotype-phenotype correlations and diagnostic outcomes.</p><p><strong>Methods: </strong>A retrospective review of children with neonatal cholestasis treated between 1997 and 2024 was conducted. Extrahepatic causes were excluded, and genetic testing, including a targeted cholestasis panel and whole exome sequencing (WES), was employed. Clinical and biochemical data, including gamma-glutamyl transferase (GGT) levels, were collected.</p><p><strong>Results: </strong>Genetic disorders were identified in 28.0% of 378 cases, including mutations in ATP8B1, ABCB11, ABCB4, DCDC2, DGUOK, KIF12, USP53, and genes related to bile acid synthesis (HSD3B7, PEX1). GGT levels played a significant role in diagnosis: patients with low or normal GGT were frequently diagnosed with progressive familial intrahepatic cholestasis (PFIC)1 and 2, or bile acid synthesis defects, while high GGT levels were associated with PFIC3, alpha-1 antitrypsin deficiency, and cystic fibrosis. Consanguinity was noted in 56.0% of genetically diagnosed cases. After 2010, 35.5% of patients received a genetic diagnosis, compared to 18.2% before 2010.</p><p><strong>Conclusion: </strong>Genetic diseases are a major cause of neonatal cholestasis, and GGT levels serve as a useful diagnostic tool in differentiating subtypes. The increasing availability of genetic testing has improved early diagnosis and personalised management. Expanded genetic testing in clinical practice is critical for timely and accurate diagnosis of these rare disorders.</p>","PeriodicalId":16648,"journal":{"name":"Journal of paediatrics and child health","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144016394","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Juvenile Myasthenia Gravis Crisis in a Previously Undiagnosed Child-A Case Report.","authors":"Roger Jen, Deyan Momirovski, Sarah Andrews","doi":"10.1111/jpc.70071","DOIUrl":"https://doi.org/10.1111/jpc.70071","url":null,"abstract":"","PeriodicalId":16648,"journal":{"name":"Journal of paediatrics and child health","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143970725","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Iron Deficiency in Young Australian Children: A Hidden Health Crisis Demanding Urgent Action.","authors":"Nina D'Vaz, Natasha Bear, Jamie Tan, Sarah Whalan, Courtney Kidd, Desiree T Silva","doi":"10.1111/jpc.70068","DOIUrl":"https://doi.org/10.1111/jpc.70068","url":null,"abstract":"","PeriodicalId":16648,"journal":{"name":"Journal of paediatrics and child health","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143997899","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Non-Syndromic Congenital Sodium Diarrhoea With a SLC9A3 Gene Variant: A Case Report.","authors":"Hatice Yilmaz Dagli, Nurten Özkan Zarif, Kıymet Çelik, Sema Arayici, Hakan Ongun, Reha Artan, İbrahim İnanç Mendilcioğlu","doi":"10.1111/jpc.70067","DOIUrl":"https://doi.org/10.1111/jpc.70067","url":null,"abstract":"","PeriodicalId":16648,"journal":{"name":"Journal of paediatrics and child health","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143998346","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gold Standard Home Nasogastric Tube Feeding for Infants and Children.","authors":"Lina Breik, Ethan Chaffey, Katherine Chan, Jayde Coy, Naomi Crockett, Francesca Crowe, Ann Dadich, Jacqueline Dalby-Payne, Bonnie Dorise, Kay Downie, Chris Elliot, Vita Fletcher, Krystal Furey, Melissa Glaysher, Jessica Gowans, Katelyn Guinea, Siobhan Handley, Tania Hillman, Melissa Homan, Anna Ierardo, Emily J Lively, Rachel Low, Khadeejah Moraby, Suzanne Morony, Chee Y Ooi, Noémi Scheuring, Meg Simione, Susan Woolfenden, Simone Wright, Nick Hopwood","doi":"10.1111/jpc.70052","DOIUrl":"https://doi.org/10.1111/jpc.70052","url":null,"abstract":"<p><p>Paediatric home enteral nutrition (HEN) is becoming more common. Existing research and guidelines point to the importance of carer education. However, ongoing HEN care in the community is not well covered, and many of those caring for children with feeding tubes have insufficient training, contributing to safety incidents in paediatric HEN. This article presents a novel gold standard for home nasogastric tube feeding for infants and children. It is developed through interviews with clinicians (n = 13) and parents (n = 4), and revised in consultation with a wider group of clinicians (n = 22), parents (n = 4), researchers (n = 2) and other professionals involved in supporting families with children who tube feed (n = 2). The gold standard reflects the authors' consensus recommendations. Alignment of its features with peer-reviewed research is highlighted. The gold standard considers NG tube feeding at home as a mealtime (rather than medical procedure) that is safe, responsive to the child's cues, and family friendly. Where weaning is expected, it also prepares the child for this.</p>","PeriodicalId":16648,"journal":{"name":"Journal of paediatrics and child health","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144009732","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Determinants of Bone Health in Children With Autism Spectrum Disorder: A Systematic Narrative Review","authors":"Romy Tamara Lipszyc,&nbsp;Christine P. Rodda,&nbsp;Martin Wright,&nbsp;Rachel L. Duckham","doi":"10.1111/jpc.70063","DOIUrl":"10.1111/jpc.70063","url":null,"abstract":"<p>Autism spectrum disorder (ASD) is a complex disorder associated with social and communication impairments and repetitive and restrictive behavioural patterns. Children with ASD often present with concurrent conditions, including poor bone health, which affect long-term health. Although there is compelling evidence to suggest that children with ASD have poorer bone traits than typically developing children, the primary factors associated with these differences are unclear. This review will explore the potential role that factors such as physical activity, nutrition (calcium, protein, vitamin C, vitamin D) and lifestyle (sleep, medication) play on bone health in children with ASD. Having a greater understanding of the influencing factors of low BMD and how these might interact in a synergistic manner in ASD children will provide an opportunity to develop targeted interventions to improve bone health aiming to avert attainment of suboptimal peak bone mass which may lead to early onset osteoporosis, fracture and muscle deconditioning in this paediatric population.</p>","PeriodicalId":16648,"journal":{"name":"Journal of paediatrics and child health","volume":"61 6","pages":"852-864"},"PeriodicalIF":1.6,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jpc.70063","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143970546","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effects of Vitamin B12 Deficiency on Hemogram Parameters and Its Relationship With Thyroid Hormones in Infancy.","authors":"Büşra Demirci, Dilek Konuksever, Gülşah Efeoğlu Gülsoy, Sevinç Püren Yücel","doi":"10.1111/jpc.70065","DOIUrl":"https://doi.org/10.1111/jpc.70065","url":null,"abstract":"<p><strong>Background: </strong>Vitamin B12 is a vital vitamin essential for DNA synthesis, central nervous system myelination and erythropoiesis. Its deficiency, particularly during the rapid growth phase of infancy, can lead to neurological and haematological complications. This study aimed to investigate the relationship between vitamin B12 deficiency, hemogram parameters, and thyroid hormones in children under 36 months of age.</p><p><strong>Materials & methods: </strong>Conducted at Bilkent Children's Hospital between 2020 and 2024, the study evaluated 10 268 children, grouped based on their B12 levels (≤ 200 pg/mL: deficient, 200-800 pg/mL: normal).</p><p><strong>Results: </strong>Vitamin B12 deficiency was identified in 7.8% of the participants, with the highest prevalence (12.3%) in the 0-12 months age group. In the deficiency group, WBC, NEU, NEU/LYM ratio, HGB and TSH levels were found to be lower, while PLT levels were higher. Neutropenia was found to be significantly more frequent in the low B12 group (p < 0.001). No significant difference was found in the prevalence of lymphopenia and leukopenia between the groups. Regarding thyroid hormone levels, fT4 levels were similar across groups, but TSH levels were lower in the B12-deficient group. A positive correlation was observed between TSH and HGB levels, while a negative correlation was noted with the NEU/LYM ratio.</p><p><strong>Conclusion: </strong>In conclusion, B12 deficiency during infancy can cause significant changes in hemogram parameters. During this period, when physiological anaemia is common, MCV may remain normal. Neutropenia and a lower Neu/Lym ratio appear to be the most striking hemogram parameters associated with vitamin B12 deficiency in infants undergoing routine check-ups. Decreased TSH levels may be related to B12 deficiency, and the NEU/LYM ratio could serve as a predictor of thyroid dysfunction. This study stands out as a large-scale study demonstrating the effects of B12 deficiency on haematological and thyroid parameters.</p>","PeriodicalId":16648,"journal":{"name":"Journal of paediatrics and child health","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144017785","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Targeted Cerebral Oxygenation Using Dedicated Treatment Versus Usual Care in Extremely Preterm Infants: Protocol for a Multicentre International Phase II Randomised Controlled Trial.","authors":"Pranav R Jani, Traci-Anne Goyen, Kiran Kumar Balegar Virupakshappa, Rajesh Maheshwari, Dharmesh Shah, Maria Saito-Benz, Tim Schindler, James Moore, James Elhindi, Himanshu Popat","doi":"10.1111/jpc.70066","DOIUrl":"https://doi.org/10.1111/jpc.70066","url":null,"abstract":"<p><strong>Background: </strong>Near infrared spectroscopy (NIRS) allows continuous monitoring of cerebral oxygenation and therefore has the potential to be neuroprotective. Recurrent episodes of cerebral hypo-and/or hyperoxia may result in brain injury. The Safe-BoosC-II study reported stable cerebral oxygenation in extremely preterm infants by combining a dedicated treatment guideline with NIRS monitoring using several devices and adult sensors. The ability to maintain stable cerebral oxygenation with a dedicated treatment algorithm using one type of NIRS device with neonatal sensors has not been previously investigated.</p><p><strong>Methods: </strong>In this multicentre, 2-arm, parallel, single-blinded, phase II RCT, stratified by gestation and hospital site, 100 participants born < 29 weeks' gestation (inborn and outborns, singleton and twins) will be randomised to targeted cerebral oxygenation using dedicated treatment or usual care with blinded cerebral NIRS monitoring for the first 5 days of life. We will exclude infants > 6 h of age, those with congenital anomaly requiring major surgery or a genetic disorder, and triples or higher multiple births. The primary outcome is the burden of cerebral hypoxia and hyperoxia for the first 5 days after birth expressed as percent hours.</p><p><strong>Discussion: </strong>The findings of this trial will provide essential information on (i) validating results from the Safe-BoosC-II study, considering the differences in the study methodology between the two trials (ii) strengthening support for routine use of cerebral NIRS monitoring in this population and (iii) informing the design of future RCTs on the effects of targeted cerebral oxygenation on neurodevelopment in early childhood as the primary outcome.</p><p><strong>Trial registration: </strong>Australian New Zealand Clinical Trials Registry registration number ACTRN12621000778886.</p>","PeriodicalId":16648,"journal":{"name":"Journal of paediatrics and child health","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144025613","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Corrosive Substance Ingestion: When to Perform Endoscopy?","authors":"Ufuk Ateş,&nbsp;Gülnur Göllü,&nbsp;Ergun Ergün,&nbsp;Fırat Serttürk,&nbsp;Anar Jafarov,&nbsp;Merve Bülbül,&nbsp;Ege Evin,&nbsp;Sümeyye Sözduyar,&nbsp;Meltem Bingöl Koloğlu,&nbsp;Ahmet Murat Çakmak","doi":"10.1111/jpc.70064","DOIUrl":"10.1111/jpc.70064","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>Ingestion of corrosive substances is a difficult and important medical problem to manage. The aim of this study is to present an algorithm that will regulate the treatment and follow-up of paediatric patients with corrosive ingestion.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Children who were admitted to the paediatric emergency department with corrosive substance ingestions between July 2015 and December 2021 were included. Between July 2015 and January 2020, endoscopy was performed on all patients. After January 2020, endoscopy was performed only for patients presenting with hypersalivation and dysphagia.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>172 patients were followed up and treated in our clinic due to corrosive substance ingestion. Endoscopic evaluation of 19 patients with hypersalivation revealed oesophageal corrosion stages as follows: grade I in 5 patients, grade II-A in 1 patient, grade II-B in 3 patients, and normal findings in the remaining patients. Of the 14 patients with dysphagia, 1 had grade I, 2 had grade II-A, and 4 had grade II-B corrosion, and the remaining patients had normal endoscopic findings. In the long-term follow-up of the patients without hypersalivation and dysphagia, no complications developed and no additional treatment was required.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>In patients presenting with suspicion of ingestion of high risk corrosive substances, there is no need for endoscopy unless hypersalivation and dysphagia are present simultaneously.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16648,"journal":{"name":"Journal of paediatrics and child health","volume":"61 6","pages":"967-973"},"PeriodicalIF":1.6,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jpc.70064","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143970557","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}