Journal of paediatrics and child health最新文献

{"title":"Renal Masses in Childhood: An Australian Perspective.","authors":"S M Trinder, C Kiraly-Borri, H Dholaria, A Charles, D J Roebuck, A L Ryan","doi":"10.1111/jpc.70021","DOIUrl":"https://doi.org/10.1111/jpc.70021","url":null,"abstract":"<p><p>Childhood renal masses comprise a heterogeneous group of conditions that have a wide range of presentations. This review outlines an approach to the diagnostic work-up of childhood renal masses and discusses the most common presentations and treatments. Renal tumours make up 5% of childhood cancer in Australia, with Wilms tumour being the most common under age 10 years. Significant advances have been made through global cooperative efforts to improve the understanding of biology, genetic basis, and classification of disease as well as standardise treatment protocols. As survival outcomes have improved, a focus on surveillance of the late effects of treatment is important. Around 10%-15% are related to cancer predisposition syndromes, and therefore consideration of this is critical at diagnosis and throughout care. Early involvement of a multi-disciplinary team is essential to ensure accurate diagnosis and management for these children and their families. Australia holds a unique perspective, as both European (SIOP) and North American (COG) treatment approaches are adopted across its paediatric oncology centres for malignant tumours. This results in flexibility in patient management but also necessitates careful decision-making regarding protocol selection.</p>","PeriodicalId":16648,"journal":{"name":"Journal of paediatrics and child health","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542379","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":"Recurrent Eczematous Rashes Surrounding Multiple Melanocytic Nevi in a Young Paediatric Patient","authors":"Chon-Wai Jeremy Chan,&nbsp;Matthew Verheyden,&nbsp;John Relic","doi":"10.1111/jpc.70024","DOIUrl":"10.1111/jpc.70024","url":null,"abstract":"","PeriodicalId":16648,"journal":{"name":"Journal of paediatrics and child health","volume":"61 4","pages":"651-652"},"PeriodicalIF":1.6,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143516049","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":"Analysis of Risk Factors for Brain Injury in Infants With Small Gestational Age and Construction and Evaluation of Prediction Model.","authors":"Qunfang Shi, Ye Yang, Ling Wang, Yu Wang","doi":"10.1111/jpc.70019","DOIUrl":"https://doi.org/10.1111/jpc.70019","url":null,"abstract":"<p><strong>Aims: </strong>To evaluate brain injury risk factors in small for gestational age (SGA) infants, develop and validate a risk prediction model.</p><p><strong>Methods: </strong>Medical records from 326 SGA infants in the Neonatal Intensive Care Unit at Hebei University's Affiliated Hospital from September 2019 to September 2024 were reviewed. The infants were categorised into brain injury (n = 135) and no brain injury (n = 191) groups based on cranial MRI outcomes. Risk factors for brain injuries in SGA infants were identified through both univariate and multivariate logistic regression analyses, followed by constructing a nomogram to visualise these risk determinants. The predictive model's calibration, discrimination, clinical net benefit, and clinical usefulness were verified using calibration and ROC curves, along with decision curve analysis (DCA) and clinical impact curves (CIC).</p><p><strong>Results: </strong>Significant risk factors included advanced maternal age, gestational hypertension (GH), fetal distress, reduced gestational age, neonatal septicemia, abnormal platelet counts and elevated neutrophil-to-lymphocyte ratio (NLR). The calibration curve and Hosmer-Lemeshow test verified the model's high accuracy. The model demonstrated good discrimination with an ROC curve AUC of 87.4%. Both DCA and CIC evaluations indicated the model's high clinical utility.</p><p><strong>Conclusion: </strong>The developed multivariate logistic regression model effectively predicts the risk of craniocerebral injuries in SGA infants, serving as a valuable tool for early identification of at-risk neonates.</p>","PeriodicalId":16648,"journal":{"name":"Journal of paediatrics and child health","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143515985","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":"Fathers' Involvement in a Surgical Neonatal Intensive Care Unit: A Prospective Cohort Study.","authors":"Karanbir Kaur, Priya Govindaswamy, Amit Trivedi, Sharon Laing","doi":"10.1111/jpc.70017","DOIUrl":"https://doi.org/10.1111/jpc.70017","url":null,"abstract":"<p><strong>Aim: </strong>To date, studies exploring patterns of fathers' involvement in their neonate's care in the neonatal intensive care unit (NICU) and barriers to involvement have utilised qualitative approaches, which can be time- and resource-consuming. This study aimed to explore the fathers' involvement in a surgical NICU using a novel tool along with identifying potential facilitators and barriers to fathers' involvement in their neonate's care.</p><p><strong>Methods: </strong>This single-centre prospective cohort study was conducted at a surgical NICU (SNICU). A novel questionnaire, Fathers' Involvement Questionnaire: Neonatal Intensive Care Unit (FIQ:NICU) comprising four sections, was developed based on current evidence and expert consensus. Study data were collected and managed using REDCap electronic data capture tools. Involvement scores are reported for individual items, subscales (Physical contact, Verbal Interaction, During Procedures, Cares/Feeding, Participation in rounds), and total score (possible range 0-92). Associations between subscales and total FIQ scores and confidence levels were explored using bivariate correlation (Pearson's r).</p><p><strong>Results: </strong>Thirty-two fathers participated. Total FIQ:NICU scores ranged from 20 to 74, mean score 55.1 (95% confidence interval 49.9-60.2), SD 14.24. Fathers reported the highest level of involvement in 'During Procedures' subscale (M = 2.88, SD = 1.00) and the lowest involvement in 'Cares/Feeding' (M = 1.67, SD = 0.83). All fathers reported support from their partner (100%) as a facilitator, followed by support from nurses (71.9%). The most frequently reported barrier was lines and tubes on their neonate (46.9%), followed by work/job commitments (34.4%).</p><p><strong>Conclusions: </strong>Support from healthcare professionals, psychologists and peers can increase father's involvement in their neonate's care in SNICU.</p>","PeriodicalId":16648,"journal":{"name":"Journal of paediatrics and child health","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143515987","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":"X-Linked Hypophosphataemia and Burosumab: A Systemic Disease With a New Treatment.","authors":"Jessica L Sandy, Andrew Biggin, Aris Siafarikas, Peter J Simm, Christine P Rodda, Craig F Munns","doi":"10.1111/jpc.70015","DOIUrl":"https://doi.org/10.1111/jpc.70015","url":null,"abstract":"<p><p>X linked hypophosphataemia (XLH) is a systemic, chronic condition that significantly impairs quality of life. In XLH, a phosphate regulating endopeptidase homologue X-linked (PHEX) gene mutation leads to excess fibroblast growth factor 23 (FGF23), causing hypophosphataemia and subsequent rickets, lower limb deformity, pain and other sequelae, however there are likely other non-FGF23 mediated mechanisms contributing to disease. Burosumab is an FGF23 inhibiting monoclonal antibody that has been shown to be significantly more effective in treating X linked hypophosphataemia than previously available treatment (\"conventional therapy\" with oral phosphate and active vitamin D). Clinical trials and real-world studies have shown that burosumab can improve lower limb deformity, growth, pain, exercise capacity, biochemistry, rickets, and quality of life. However, the full effect of burosumab on the lives of individuals with X linked hypophosphataemia is yet to be determined. How burosumab may impact some of the lesser understood clinical features, including dental abscesses, craniosynostosis, enthesopathy, and osteoarthritis, is unclear. Whether burosumab mitigates the risk of complications associated with conventional therapy (nephrocalcinosis and hyperparathyroidism) has also not been established. There are conflicting recommendations on who should receive burosumab, when they should start it, and for how long they should continue taking it. This review summarises what is known, and more importantly what is unknown, about burosumab use in X linked hypophosphataemia. We highlight important areas for future research to better understand the impact of burosumab in XLH, improve management of XLH, assess cost benefit of, and advocate for fair and equitable access to burosumab.</p>","PeriodicalId":16648,"journal":{"name":"Journal of paediatrics and child health","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143516051","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":"Osteoid Osteoma Presenting With Unilateral Leg Wasting","authors":"Amelia Yeoh,&nbsp;Sharon Ng,&nbsp;Adambarage Chandima De Alwis","doi":"10.1111/jpc.70023","DOIUrl":"10.1111/jpc.70023","url":null,"abstract":"&lt;p&gt;Osteoid osteomas are uncommon in children and are typically seen in the second and third decades of life [&lt;span&gt;1&lt;/span&gt;]. We present a toddler presenting with unilateral leg wasting who was eventually found to have an osteoid osteoma.&lt;/p&gt;&lt;p&gt;A previously well 3-year-old boy was referred to the paediatric clinic at a regional hospital due to an intermittent limp which his parents reported had been present since starting to walk at 1 year. There was no history of trauma, and he was systemically well. On examination, he could walk and run with no convincing gait disturbance. His right calf appeared wasted and measured 1 cm thinner than the left. There was no leg length discrepancy or joint irritability. He had normal deep tendon reflexes (DTR) and down-going plantars. Our initial differential diagnosis included hip or spinal pathology and peripheral neuropathy causing unilateral leg atrophy. X-ray revealed a lucent lesion in the right distal tibia with periosteal reaction (Figure 1), which we suspected could be chronic osteomyelitis or Langerhans cell histiocytosis. Blood tests revealed unremarkable inflammatory markers and negative blood culture. CT showed a 9 mm circumscribed lytic lesion (nidus) within the lateral cortex of the right distal tibia (Figure 1).&lt;/p&gt;&lt;p&gt;He was discussed with the orthopaedics team at a tertiary paediatric centre and transferred with the presumptive diagnosis of chronic osteomyelitis on IV cefazolin. MRI showed a cortical-based lesion with extensive marrow inflammation and surrounding soft tissue inflammatory changes. Fluoroscopic guided debridement and biopsy were performed. Histology confirmed an osteoblastic lesion favouring the diagnosis of an osteoid osteoma. He was discharged on oral antibiotics, managed in a Controlled Ankle Motion (CAM) boot to mitigate the risk of pathological fracture, and had complete resolution of symptoms on subsequent follow-up.&lt;/p&gt;&lt;p&gt;Osteoid osteomas account for 10% of benign bone tumours [&lt;span&gt;2&lt;/span&gt;], commonly affecting long bones such as the femur or tibia [&lt;span&gt;1, 3&lt;/span&gt;] It is rare in children &lt; 3 years, and non-specific symptoms tend to delay diagnosis [&lt;span&gt;1, 3&lt;/span&gt;]. Presenting complaints include gait disturbance and nocturnal pain that responds to simple analgesia [&lt;span&gt;1&lt;/span&gt;]. Hsich et al. [&lt;span&gt;3&lt;/span&gt;] reported two patients with lower limb osteoid osteoma presenting with focal neurologic signs including atrophy, weakness, and reduced DTR due to affected limb disuse. CT is most reliable in showing the focal lucent nidus and surrounding reactive sclerosis, which may not be seen on x-ray or MRI [&lt;span&gt;1, 2&lt;/span&gt;]. Osteoid osteomas have been reported to spontaneously resolve; however, treatment traditionally involves surgical resection or radiofrequency ablation [&lt;span&gt;1, 2, 4&lt;/span&gt;].&lt;/p&gt;&lt;p&gt;Our case highlights osteoid osteoma as a rare but treatable differential in toddlers presenting with chronic gait disturbance and muscle wasting.&lt;/p&gt;&lt;p&gt;The authors declar","PeriodicalId":16648,"journal":{"name":"Journal of paediatrics and child health","volume":"61 4","pages":"657-658"},"PeriodicalIF":1.6,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jpc.70023","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143515988","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":"Autologous Blood Patch and Lung Ultrasound for Persistent Air Leak in an Extremely Premature Neonate.","authors":"Callum Gately","doi":"10.1111/jpc.70022","DOIUrl":"https://doi.org/10.1111/jpc.70022","url":null,"abstract":"","PeriodicalId":16648,"journal":{"name":"Journal of paediatrics and child health","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143501679","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":"Missed Opportunities for Preventing or Diagnosing Acute Rheumatic Fever: A Retrospective Cohort Study of 20 Young Australians Diagnosed With Rheumatic Heart Disease on Screening Echocardiography.","authors":"Oliver Rouhiainen, Jessica Gatti, Seide Ramadani, Jayden Stewart, Melanie Matthews, Helen Fairhurst, Bo Remenyi, Joshua R Francis, Jennifer Yan","doi":"10.1111/jpc.16797","DOIUrl":"https://doi.org/10.1111/jpc.16797","url":null,"abstract":"<p><strong>Background and aim: </strong>A cross-sectional echocardiographic screening study in a remote Aboriginal community in Australia identified hyperendemic levels of rheumatic heart disease (RHD). 20/613 screened were newly diagnosed with RHD, and 18/20 had no known history of acute rheumatic fever (ARF). Our aim was to explore the medical histories of those newly diagnosed with RHD for potential (1) missed opportunities for primary prevention of ARF through management of Group A Streptococcal (Strep A) infection, and (2) missed opportunities for diagnosis of ARF.</p><p><strong>Methods: </strong>We assessed community clinic and tertiary hospital medical records of those children with new diagnoses of RHD (n = 20), and collected information regarding previous episodes of possible Strep A infection or its sequelae.</p><p><strong>Results: </strong>All 20 participants had previous documented possible or confirmed Strep A infections, predominantly in the form of impetigo or infected scabies (range 1-17 episodes per participant). At least 15/20 participants had potential Strep A infections where treatment that was documented may not have adequately covered Strep A. 11/20 participants had scabies diagnosed without documented scabies treatment. 2/20 participants had previously diagnosed ARF, however these were diagnosed within the month prior to the community-wide screening for RHD. 2/20 participants had undiagnosed, probable or possible ARF when classified retrospectively from review of their case documentation. 13/20 participants had non-specific presentations with joint complaints that may have represented an ARF episode but with inadequate workup to fulfil diagnostic criteria on retrospective assessment.</p>","PeriodicalId":16648,"journal":{"name":"Journal of paediatrics and child health","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143483480","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 Current Landscape for Screening and Monitoring of Early-Stage Type 1 Diabetes.","authors":"Kruthika Narayan, Kara Mikler, Ann Maguire, Maria E Craig, Kirstine Bell","doi":"10.1111/jpc.70016","DOIUrl":"https://doi.org/10.1111/jpc.70016","url":null,"abstract":"<p><p>Type 1 diabetes (T1D) has two pre-symptomatic phases (stages 1 and 2) with progressive destruction of beta cells which have been identified through longitudinal cohort studies in recent decades. The definition of T1D, with hyperglycaemia that may or may not be symptomatic, is now defined as stage 3. There is growing evidence that screening for stages 1 and 2 reduces rates of diabetic ketoacidosis and prevents long-term complications. These stages can be defined by the presence of islet autoantibodies which are markers of autoimmune beta cell damage. Furthermore, genetic risk scores, which combine a variety of single nucleotide polymorphisms, identify people at high genetic risk of future T1D. Thus, they provide an opportunity to select high-risk individuals for islet autoantibody testing. Individuals identified as having stage 1 or 2 T1D require ongoing monitoring to detect hyperglycaemia and the need for insulin replacement. These individuals may also be eligible for emerging immunotherapies in future to delay progression to stage 3. This review article explores the current evidence for screening and summarises the recommended clinical care for early-stage T1D.</p>","PeriodicalId":16648,"journal":{"name":"Journal of paediatrics and child health","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143468093","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 General Paediatric Approach to Ankyloblepharon–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome in Infancy: A Case Report","authors":"James Gaston,&nbsp;Alex Pritchard,&nbsp;Malindi Haggett,&nbsp;David Orchard","doi":"10.1111/jpc.70020","DOIUrl":"10.1111/jpc.70020","url":null,"abstract":"","PeriodicalId":16648,"journal":{"name":"Journal of paediatrics and child health","volume":"61 4","pages":"647-650"},"PeriodicalIF":1.6,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143458399","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}