Paediatrics & child health最新文献

{"title":"Implementing a consultation service for translating genomic research findings into the clinic: Lessons from the SickKids Genome Board.","authors":"Amy Y Pan, Kenzie Pulsifer, Michelle M Axford, Lena Dolman, Bailey Gallinger, Eriskay Liston, Elizabeth Stephenson, Anna Szuto, Laura Zahavich, Gregory Costain","doi":"10.1093/pch/pxaf020","DOIUrl":"https://doi.org/10.1093/pch/pxaf020","url":null,"abstract":"<p><strong>Objectives: </strong>Genome-wide sequencing (GWS) is now used across the breadth of pediatric research. There is a greater potential to identify unexpected, clinically relevant findings with GWS than with the targeted genetic techniques used in prior decades. Individual research teams may not have the expertise to evaluate and manage these findings. The Hospital for Sick Children (SickKids) Genome Board is a no-cost consultation service for researchers with questions arising from genetic aspects of their studies.</p><p><strong>Methods: </strong>We reviewed all submissions to and recommendations from the Genome Board over the first 4 years, to identify common questions, themes, and trends.</p><p><strong>Results: </strong>There were 67 submissions and a year-over-year increase in volumes. The most common request (60%) was to assess variants identified by GWS for pathogenicity, clinical actionability, and returnability to a study participant. Overall, 23 of 48 reviewed variants were recommended for clinical confirmation and return with genetic counselling. Other categories of submissions included requests to researchers from study participants to release their \"raw\" genomic data and for input on protocols related to clinical translation of findings.</p><p><strong>Conclusion: </strong>The Genome Board provides a generalizable model for centralized triage of clinical questions arising from genomic research at a pediatric centre. Clinicians should be aware that patient participation in genetic research studies can have downstream consequences for their healthcare.</p>","PeriodicalId":19730,"journal":{"name":"Paediatrics & child health","volume":"30 6","pages":"502-507"},"PeriodicalIF":2.0,"publicationDate":"2025-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12495525/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145233174","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":"Infant malrotation with midgut volvulus: A retrospective review of clinical presentation and delays in care at a Canadian tertiary paediatric centre.","authors":"Ludovic Filion, Mona Beaunoyer, Marie-Claude Miron, Sarah Emmanuelle Blondin, Geneviève Tourigny-Ruel, Evelyne D Trottier, Michael-Andrew Assaad","doi":"10.1093/pch/pxaf042","DOIUrl":"https://doi.org/10.1093/pch/pxaf042","url":null,"abstract":"<p><strong>Objectives: </strong>Evaluate clinical presentation, delays and outcome in management of children with malrotation with midgut volvulus to identify avenues for care improvement.</p><p><strong>Methods: </strong>A retrospective cross-sectional observational study in a single tertiary care paediatric centre on patients with a final diagnosis of midgut volvulus presenting to the emergency department (ED)/neonatal intensive care unit (NICU) from January 2015 through August 2022. Data recorded included demographics, clinical presentation, imaging, surgical findings, and survival/complications. We recorded time from arrival to hospital to: (1) medical evaluation, (2) radiologic investigations, (3) surgery consultation, and (4) surgery. Outcomes included survival and major morbidity.</p><p><strong>Results: </strong>Thirty children had a diagnosis of midgut volvulus (ED: 22, NICU: 8). Twenty-eight (93%) survived, including two with short bowel syndrome. Median age was 7 days (IQR 3-13), 70% were male. Bilious vomiting was green (13/27; 48%), yellow (9/27; 33%), or both (5/27;19%). All had an ultrasound performed, and it was diagnostic in 24 (80%). Seven (23%) had upper gastrointestinal series performed; all were diagnostic. Median time between arrival and ultrasound was 146 min (IQR 62-234), and between arrival and surgery (Ladd's procedure) was 297 minutes (IQR 206-368).</p><p><strong>Conclusions: </strong>In our cohort, midgut volvulus had a mortality rate of 2/30 (7%). Bilious vomiting, which can be either green and/or yellow, is a reliable clinical sign of midgut volvulus in infants. Ultrasound has good diagnostic accuracy. Delay of definitive surgery was considered high with potential for improvement at different timepoints. These timepoints were targeted in the development of a clinical practice guideline to reduce delays in the management of infants with bilious vomiting.</p>","PeriodicalId":19730,"journal":{"name":"Paediatrics & child health","volume":"30 6","pages":"453-458"},"PeriodicalIF":2.0,"publicationDate":"2025-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12495520/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145233199","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":"Antineutrophil cytoplasmic antibody positivity in systemic lupus erythematosus: Diagnostic dilemma and therapeutic implications.","authors":"Lauren Devito, Erkan Demirkaya, Manal Gabril, Micol Romano, Guido Filler, Ajay P Sharma","doi":"10.1093/pch/pxaf059","DOIUrl":"https://doi.org/10.1093/pch/pxaf059","url":null,"abstract":"<p><strong>Objectives: </strong>Antineutrophil cytoplasmic antibody (ANCA) positivity occurs in up to 25% of systemic lupus erythematosus (SLE) patients, but differentiating incidental ANCA from ANCA-associated vasculitis (AAV) in SLE nephritis remains a diagnostic and therapeutic challenge.</p><p><strong>Case: </strong>A 14-year-old female presented with a 3-month history of undiagnosed autoimmune manifestations and chronic kidney disease. Based on autoimmune workup and kidney biopsy, she was diagnosed with SLE nephritis with incidental ANCA positivity. Despite appropriate SLE nephritis-directed treatment as per guidelines, an inflammatory flare and superimposed acute kidney injury (AKI) prompted a diagnosis revision to SLE-AAV overlap syndrome. Broadening treatment to target concomitant AAV led to autoimmune remission and AKI resolution.</p><p><strong>Conclusions: </strong>This case underscores the importance of early suspicion of autoimmune disorders by primary care providers for a timely referral and the critical role of specialists in recognizing the limitations of conventional tools, including renal histology, when distinguishing incidental ANCA positivity from SLE-AAV overlap to guide appropriate treatment.</p>","PeriodicalId":19730,"journal":{"name":"Paediatrics & child health","volume":"30 6","pages":"459-463"},"PeriodicalIF":2.0,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12495528/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145233097","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":"Early allergen introduction for infants: Tips for breastfeeding parents with food allergies themselves.","authors":"Brock A Williams, Carley Hughes, Edmond S Chan, Stephanie C Erdle","doi":"10.1093/pch/pxaf070","DOIUrl":"10.1093/pch/pxaf070","url":null,"abstract":"","PeriodicalId":19730,"journal":{"name":"Paediatrics & child health","volume":"30 6","pages":"450-452"},"PeriodicalIF":2.0,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12495509/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145233210","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":"Designing a financial wellness curriculum for paediatrics residents-an educational needs assessment.","authors":"Linlei Ye, Sarah Foster, Jessica L Foulds, Christopher Gerdung","doi":"10.1093/pch/pxaf072","DOIUrl":"10.1093/pch/pxaf072","url":null,"abstract":"<p><strong>Objectives: </strong>Resident physicians face important financial decisions; however, formal education in financial literacy within residency programs is lacking. Current literature reports that residents have poor financial knowledge, increasing levels of debt, and associated anxiety. There have been no published reports on financial well-being among paediatrics residents in Canada.</p><p><strong>Methods: </strong>Using Kern's six-step approach for curriculum development, a targeted educational needs assessment was performed. Surveys were distributed to assess residents' financial knowledge, interest, behaviours, and to evaluate early career paediatricians' perceived readiness for managing finances upon graduation. Descriptive statistics were performed in Microsoft Excel.</p><p><strong>Results: </strong>Seventy-eight participants (35 residents and 43 early career paediatricians) were included. Seventeen (63.0%) respondents were very interested in participating in a financial curriculum, and 18 (66.7%) respondents strongly agreed that formal education in financial literacy in residency is important.</p><p><strong>Conclusions: </strong>Participants expressed a strong desire for a financial curriculum, which represents an educational gap in residency.</p>","PeriodicalId":19730,"journal":{"name":"Paediatrics & child health","volume":"30 6","pages":"464-468"},"PeriodicalIF":2.0,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12495508/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145233038","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":"Severe neonatal hyperbilirubinemia in infants aged 60 days or less (2025 to 2027).","authors":"Michael Sgro, Sloane Freeman, Saisujani Rasiah, Douglas Campbell, Vibhuti Shah","doi":"10.1093/pch/pxaf062","DOIUrl":"https://doi.org/10.1093/pch/pxaf062","url":null,"abstract":"","PeriodicalId":19730,"journal":{"name":"Paediatrics & child health","volume":"30 6","pages":"469-470"},"PeriodicalIF":2.0,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12495517/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145233171","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":"Expanding access to early childhood developmental screening for children of recently arrived migrant families through community health fairs.","authors":"Lashanda Skerritt, Patricia Li, Rislaine Benkelfat","doi":"10.1093/pch/pxaf057","DOIUrl":"10.1093/pch/pxaf057","url":null,"abstract":"","PeriodicalId":19730,"journal":{"name":"Paediatrics & child health","volume":"30 6","pages":"442-443"},"PeriodicalIF":2.0,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12495515/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145233122","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":"Case: New-onset hyperthyroidism in an adolescent girl. Is it Graves' disease?","authors":"Gabrielle Scantlebury, Laura Stewart, Carolina Silva","doi":"10.1093/pch/pxaf016","DOIUrl":"10.1093/pch/pxaf016","url":null,"abstract":"","PeriodicalId":19730,"journal":{"name":"Paediatrics & child health","volume":"30 6","pages":"437-438"},"PeriodicalIF":2.0,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12495512/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145233063","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":"Showing up for no-shows: Why transportation equity matters.","authors":"Anne Hicks, Laleh Behjat, Merkebe Getachew Demissie","doi":"10.1093/pch/pxaf068","DOIUrl":"10.1093/pch/pxaf068","url":null,"abstract":"<p><p>Paediatric care is intrinsically rewarding. Preventing and mitigating disease while supporting patients and families means a better life for everyone. However, every paediatrician faces the frustration of appointment nonattendance and, especially tough, the dilemma of serial no-attendance-do we discharge the patient or impact our overflowing waitlist? Inequitable transportation compounds sociodemographic barriers to healthcare access. This article explores how 'transportation deserts', impact patients and what paediatricians can do to improve equitable access while decreasing 'no-shows.'</p>","PeriodicalId":19730,"journal":{"name":"Paediatrics & child health","volume":"30 6","pages":"439-441"},"PeriodicalIF":2.0,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12495511/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145233153","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":"Simplified patient decision-aid for tongue-tie surgery for breast-fed infants.","authors":"S M Hashim Nainar","doi":"10.1093/pch/pxaf061","DOIUrl":"10.1093/pch/pxaf061","url":null,"abstract":"","PeriodicalId":19730,"journal":{"name":"Paediatrics & child health","volume":"30 6","pages":"447-449"},"PeriodicalIF":2.0,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12495526/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145233168","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}