Paediatric obesity diagnosis and intervention practices in Australian hospitals - Australia-wide survey.

AIM: Previous studies suggest a lack of a unified approach in identifying and addressing children with obesity while being inpatients in individual Australian hospitals. Our study aimed to describe current clinical practice across Australia and identify discrepancies that can aid in developing a more unified response to children identified with obesity as hospital inpatients. METHODS: A cross-sectional exploratory online survey was distributed to major paediatric in-patient departments in Australia, with a response rate of 68%. Questions focused on education, identification, interventions and attitudes towards a national protocol. RESULTS: Twenty percent of respondents indicated that staff in their department regularly record body mass index, 66% address weight issues and only 8% consistently refer to appropriate outpatient services. Although 88% of respondents believe that a national protocol for addressing paediatric obesity would be beneficial, respondents emphasised concerns regarding their local resources. CONCLUSION: Our study can inform the development of a guideline for a unified response to opportunistically identify children with overweight and obesity as inpatients.

The Molecular Landscape of Primary CNS Lymphomas (PCNSLs) in Children and Young Adults.

Pediatric brain tumors are often noted to be different from their adult counterparts in terms of molecular features. Primary CNS lymphomas (PCNSLs) are mostly found in elderly adults and are uncommon in children and teenagers. There has only been scanty information about the molecular features of PCNSLs at a young age. We examined PCNSLs in 34 young patients aged between 7 and 39 years for gene rearrangements of BCl2, BCL6, CCND1, IRF4, IGH, IGL, IGK, and MYC, homozygous deletions (HD) of CDKN2A, and HLA by FISH. Sequencing was performed using WES, panel target sequencing, or Sanger sequencing due to the small amount of available tissues. The median OS was 97.5 months and longer than that for older patients with PCNSLs. Overall, only 14 instances of gene rearrangement were found (5%), and patients with any gene rearrangement were significantly older (p = 0.029). CDKN2A HD was associated with a shorter OS (p < 0.001). Only 10/31 (32%) showed MYD88 mutations, which were not prognostically significant, and only three of them were L265P mutations. CARD11 mutations were found in 8/24 (33%) cases only. Immunophenotypically, the cases were predominantly GCB, in contrast to older adults (61%). In summary, we showed that molecular findings identified in the PCNSLs of the older patients were only sparingly present in pediatric and young adult patients.

Documentation and management of paediatric obesity: Evidence from a paediatric inpatient unit.

INTRODUCTION: The obesity epidemic is a worldwide phenomenon.1 In Australia, the prevalence of paediatric overweight or obesity is 25%.2 Children with obesity present to medical services more frequently than children with a healthy weight.3 Therefore, any hospital admission is an opportunity for clinicians to identify and manage children with overweight or obesity. Previous research has not objectively measured how frequently clinicians document a child as being above the healthy weight range and initiate weight management strategies. This study addresses this gap in the literature by demonstrating the prevalence rate and clinical characteristics of children with overweight/obesity in a non-tertiary paediatric inpatient unit and measuring the rate of clinician recognition, documentation, and initiation of weight management strategies.

Paediatric hepatic angiosarcoma with consumptive hypothyroidism-an important diagnostic pitfall to avoid during evaluation of hepatic vascular tumours.

Hepatic angiosarcoma is an extremely rare primary malignant vascular tumour in children with very poor prognosis. Radiological diagnosis of hepatic angiosarcoma is challenging due to overlapping imaging features with other benign vascular hepatic tumours, particularly infantile hepatic haemangioma. Consumptive hypothyroidism is a condition that is almost exclusively associated with infantile hepatic haemangioma and has never been reported in angiosarcoma. We present a case of hepatic angiosarcoma in a 20-month-old girl, associated with consumptive hypothyroidism and, as a result, initially misdiagnosed as infantile hepatic haemangioma. Radiologists should be aware that consumptive hypothyroidism is not a reliable feature to use in excluding paediatric hepatic angiosarcoma. Biopsy should be performed in patients older than 1 year of age or with atypical imaging features.

Case report: Therapy-related myeloid neoplasms in three pediatric cases with medulloblastoma.

Introduction: Medulloblastoma is the most common malignant brain tumor in children, often requiring intensive multimodal therapy, including chemotherapy with alkylating agents. However, therapy-related complications, such as therapy-related myeloid neoplasms (t-MNs), can arise, particularly in patients with genetic predisposition syndromes. This case report presents three pediatric cases of medulloblastoma with subsequent development of t-MNs, highlighting the potential role of genetic predisposition and the importance of surveillance for hematological abnormalities in long-term survivors. Case presentation: We describe three cases of pediatric medulloblastoma who developed t-MNs after receiving chemotherapy, including alkylating agents. Two of the patients had underlying genetic predisposition syndromes (TP53 pathologic variants). The latency period between initial diagnosis of medulloblastoma and the development of secondary cancer varied among the cases, ranging from 17 to 65 months. The three cases eventually succumbed from secondary malignancy, therapy-related complications and progression of primary disease, respectively. Conclusions: This report highlights the potential association between genetic predisposition syndromes and the development of therapy-related myeloid neoplasms in pediatric medulloblastoma survivors. It underscores the importance of surveillance for hematological abnormalities among such patients.

Maternal and neonatal health outcomes for First Nations Australian women and children: A retrospective cohort study in a Western Sydney metropolitan tertiary referral centre.

AIM: To analyse key pregnancy and birth outcomes for First Nations women and children at a Western Sydney metropolitan tertiary referral centre. METHODS: The birth and health-determining characteristics of 470 First Nations infants born at Nepean Hospital in 2018 and their mothers were included in a retrospective audit and compared with a contemporaneous control group of 470 infants and their mothers. RESULTS: Mothers of First Nations infants had significantly higher rates of socioeconomic disadvantage (P < 0.001), psychosocial vulnerability (P < 0.007), mental illness (P < 0.001), teenage pregnancy (P < 0.001), smoking (45.6% vs. 19.4%, P < 0.001) and drug and alcohol use than control mothers (P < 0.001, P < 0.048). First Nations peoples did not have increased rates of maternal morbidity, nor any difference in rates of Caesarean section, resuscitation at birth, NICU admission, preterm birth or low birth weight in multivariable analysis. However, multivariable analysis demonstrated significant associations between low birth weight and maternal smoking (P < 0.001), hypertension (P < 0.01) and drug use (P < 0.01). CONCLUSIONS: Despite challenges facing First Nations mothers and infants, our study found no significant difference in maternal morbidity nor adverse birth outcomes for First Nations infants. The study occurred in the context of culturally specific, First Nations-led antenatal and infant services. Future studies should further investigate relationships between participation in these services and health outcomes. This could identify strengths and areas for improvement in current services, with the goal of further improving outcomes for First Nations peoples through targeted health services that address their psychosocial vulnerabilities and support women to make healthy choices during pregnancy.

Spindle cell neoplasms with novel LTK fusion - Expanding the spectrum of kinase fusion-positive soft tissue tumors.

AIMS: Kinase fusion-positive soft tissue tumors represent an emerging, molecularly defined group of mesenchymal tumors with a wide morphologic spectrum and diverse activating kinases. Here, we present two cases of soft tissue tumors with novel LTK fusions. METHODS AND RESULTS: Both cases presented as acral skin nodules (big toe and middle finger) in pediatric patients (17-year-old girl and 2-year-old boy). The tumors measured 2 and 3 cm in greatest dimension. Histologically, both cases exhibited bland-looking spindle cells infiltrating adipose tissue and accompanied by collagenous stroma. One case additionally displayed perivascular hyalinization and band-like stromal collagen. Both cases exhibited focal S100 staining, and one case had patchy coexpression of CD34. Targeted RNA-seq revealed the presence of novel in-frame MYH9::LTK and MYH10::LTK fusions, resulting in upregulation of LTK expression. Of interest, DNA methylation-based unsupervised clustering analysis in one case showed that the tumor clustered with dermatofibrosarcoma protuberans (DFSP). One tumor was excised with amputation with no local recurrence or distant metastasis at 18-month follow-up. The other case was initially marginally excised with local recurrence after one year, followed by wide local excision, with no evidence of disease at 10 years of follow-up. CONCLUSIONS: This is the first reported case series of soft tissue tumors harboring LTK fusion, expanding the molecular landscape of soft tissue tumors driven by activating kinase fusions. Furthermore, studies involving a larger number of cases and integrated genomic analyses will be warranted to fully elucidate the pathogenesis and classification of these tumors.

Effectiveness of Computerized Cognitive Training on Working Memory in Pediatric Cancer Survivors: A Systematic Review and Meta-analysis.

BACKGROUND: Interactive features of computerized cognitive training (CCT) may enhance adherence to training, providing a relatively low-cost intervention. A robust systematic review on the effectiveness of CCT for improving working memory (WM) among pediatric survivors with cancer is lacking. OBJECTIVE: To summarize the available evidence and determine the effectiveness of CCT for WM among pediatric survivors with cancer. INTERVENTIONS/METHODS: Five databases were searched. The Effective Public Health Practice Project was used to assess the study quality. ReviewerManager was used. The primary outcome was WM performance. Secondary outcomes included processing speed, attention, intervention adherence, and number of adverse events. RESULTS: Six studies were included. Regarding overall quality, 1 study was weak, and 5 studies were moderate. Five studies reported a significant improvement of WM postintervention (P < .05). The meta-analysis of Cogmed interventions on symbolic WM revealed a significant difference between groups (vs placebo), with an overall pooled effect size of 0.71 (95% confidence interval, 0.02-1.41; P = .04). Two and 4 studies investigated the effects of CCT on processing speed and attention, respectively, with conflicting results. Four studies reported adherence of 80% or greater. Two studies reported no adverse events. CONCLUSIONS: Computerized cognitive training using Cogmed has a significant positive effect on WM. The effects of CCT on processing speed and attention remain inconclusive. IMPLICATIONS FOR PRACTICE: More rigorous trials should be conducted to elucidate the cognitive effects of CCT, particularly processing speed and attention, in the pediatric population with cancer. Further studies should consider combining CCT with other existing interventions to strengthen their effectiveness.

Rare Pediatric Cerebellar High-Grade Gliomas Mimic Medulloblastomas Histologically and Transcriptomically and Show p53 Mutations.

Pediatric high-grade gliomas (HGG) of the cerebellum are rare, and only a few cases have been documented in detail in the literature. A major differential diagnosis for poorly differentiated tumors in the cerebellum in children is medulloblastoma. In this study, we described the histological and molecular features of a series of five pediatric high-grade gliomas of the cerebellum. They actually showed histological and immunohistochemical features that overlapped with those of medulloblastomas and achieved high scores in NanoString-based medulloblastoma diagnostic assay. Methylation profiling demonstrated these tumors were heterogeneous epigenetically, clustering to GBM_MID, DMG_K27, and GBM_RTKIII methylation classes. MYCN amplification was present in one case, and PDGFRA amplification in another two cases. Interestingly, target sequencing showed that all tumors carried TP53 mutations. Our results highlight that pediatric high-grade gliomas of the cerebellum can mimic medulloblastomas at histological and transcriptomic levels. Our report adds to the rare number of cases in the literature of cerebellar HGGs in children. We recommend the use of both methylation array and TP53 screening in the differential diagnoses of poorly differentiated embryonal-like tumors of the cerebellum.

Genome-Wide DNA Methylation Profiling as Frontline Diagnostics for Central Nervous System Embryonal Tumors in Hong Kong.

This paper examines the link between CNS tumor biology and heterogeneity and the use of genome-wide DNA methylation profiling as a clinical diagnostic platform. CNS tumors are the most common solid tumors in children, and their prognosis remains poor. This study retrospectively analyzed pediatric patients with CNS embryonal tumors in Hong Kong between 1999 and 2017, using data from the territory-wide registry and available formalin-fixed paraffin-embedded tumor tissue. After processing archival tumor tissue via DNA extraction, quantification, and methylation profiling, the data were analyzed by using the web-based DKFZ classifier (Molecular Neuropathology (MNP) 2.0 v11b4) and t-SNE analysis. Methylation profiles were deemed informative in 85 samples. Epigenetic data allowed molecular subgrouping and confirmed diagnosis in 65 samples, verified histologic diagnosis in 8, and suggested an alternative diagnosis in 12. This study demonstrates the potential of DNA methylation profiling in characterizing pediatric CNS embryonal tumors in a large cohort from Hong Kong, which should enable regional and international collaboration in future pediatric neuro-oncology research.

The impact of the multi-disciplinary molecular tumour board and integrative next generation sequencing on clinical outcomes in advanced solid tumours.

Background: The integration of next-generation sequencing (NGS) comprehensive gene profiling (CGP) into clinical practice is playing an increasingly important role in oncology. Therefore, the HKU-HKSH Multi-disciplinary Molecular Tumour Board (MTB) was established to advance precision oncology in Hong Kong. A multicenter retrospective study investigated the feasibility of the HKU-HKSH MTB in determining genome-guided therapy for treatment-refractory solid cancers in Hong Kong. Methods: Patients who were presented at the HKU-HKSH MTB between August 2018 and June 2022 were included in this study. The primary study endpoints were the proportion of patients who receive MTB-guided therapy based on genomic analysis and overall survival (OS). Secondary endpoints included the proportion of patients with actionable genomic alterations, objective response rate (ORR), and disease control rate (DCR). The Kaplan-Meier method was used in the survival analyses, and hazard ratios were calculated using univariate Cox regression. Findings: 122 patients were reviewed at the HKU-HKSH MTB, and 63% (n = 77) adopted treatment per the MTB recommendations. These patients achieved a significantly longer median OS than those who did not receive MTB-guided therapy (12.7 months vs. 5.2 months, P = 0.0073). Their ORR and DCR were 29% and 65%, respectively. Interpretation: Our study demonstrated that among patients with heavily pre-treated advanced solid cancers, MTB-guided treatment could positively impact survival outcomes, thus illustrating the applicability of NGS CGPs in real-world clinical practice. Funding: The study was supported by the Li Shu Pui Medical Foundation. Dr Aya El Helali was supported by the Li Shu Pui Medical Foundation Fellowship grant from the Li Shu Pui Medical Foundation. Funders had no role in study design, data collection, data analysis, interpretation, or writing of the report.

Incidence and Predictors for Oncologic Etiologies in Chinese Children with Pituitary Stalk Thickening.

BACKGROUND: With the increasing use of magnetic resonance imaging (MRI) in the evaluation of children with endocrine disorders, pituitary stalk thickening (PST) poses a clinical conundrum due to the potential for underlying neoplasms and challenges in obtaining a tissue biopsy. The existing literature suggests Langerhans cell histiocytosis (LCH) to be the commonest (16%) oncologic cause for PST, followed by germ cell tumors (GCTs, 13%) (CCLG 2021). As the cancer epidemiology varies according to ethnicity, we present herein the incidence and predictors for oncologic etiologies in Hong Kong Chinese children with PST. METHODS: Based on a territory-wide electronic database, we reviewed patients aged < 19 years who presented to three referral centers with endocrinopathies between 2010 and 2022. Records for patients who underwent at least one MRI brain/pituitary were examined (n = 1670): those with PST (stalk thickness ≥ 3 mm) were included, while patients with pre-existing cancer, other CNS and extra-CNS disease foci that were diagnostic of the underlying condition were excluded. RESULTS: Twenty-eight patients (M:F = 10:18) were identified. The median age at diagnosis of PST was 10.9 years (range: 3.8-16.5), with central diabetes insipidus (CDI) and growth hormone deficiency (GHD) being the most frequent presenting endocrine disorders. At a median follow-up of 4.8 years, oncologic diagnoses were made in 14 patients (50%), including 13 GCTs (46%; germinoma = 11, non-germinoma = 2) and one LCH (4%). Among patients with GCTs, 10 were diagnosed based on histology, two by abnormal tumor markers and one by a combination of histology and tumor markers. Three patients with germinoma were initially misdiagnosed as hypophysitis/LCH. The cumulative incidence of oncologic diagnoses was significantly higher in boys and patients with PST at presentation ≥6.5 mm, CDI or ≥2 pituitary hormone deficiencies at presentation and evolving hypopituitarism (all p < 0.05 by log-rank). CONCLUSIONS: A higher rate of GCTs was observed in Chinese children with endocrinopathy and isolated PST. The predictors identified in this study may guide healthcare providers in Asia in clinical decision making. Serial measurement of tumor markers is essential in management.

Barriers to identification and reporting of child abuse and neglect experienced by medical officers and nursing staff in emergency departments of the Nepean Blue Mountains Local Health District.

OBJECTIVE: This structured survey sought to identify barriers to recognising and reporting potential child abuse by medical officers and nursing staff in the EDs of three Western Sydney hospitals. These include a large metropolitan teaching hospital, a small metropolitan hospital and a rural hospital. METHODS: A mixed approach of qualitative and quantitative study methodology was used to survey potential participants. The electronic survey was distributed to participants to assess knowledge and experiences with identifying child abuse presenting to the ED over a 6-month period. A descriptive analysis of the data was performed. RESULTS: A total of 121 responses were received from 340 potential participants, giving a participation rate of 35%. The majority of the respondents were senior medical officers (38/110, 34%) or registered nurses (35/110, 32%). The study participants perceived the lack of time as the most significant barrier to reporting child abuse (85/101, 84%). This was followed by a lack of education (35/101, 34%), resources (33/101, 32%) and support (30/101, 29%). CONCLUSION: The combination of hospital, departmental and individual staff issues such as time limitations, lack of resources, education and support are potential barriers to reporting suspected child abuse. We recommend tailored teaching sessions, improved reporting procedures and increased support from senior staff to overcome these barriers.

Primary care providers' experience in the management of paediatric type 1 diabetes in Western Sydney, New South Wales.

BACKGROUND AND OBJECTIVES: It is unknown to what degree general practitioners (GPs) are able to diagnose and assist in the management of children with type 1 diabetes (T1D). This study examined the experiences of GPs when faced with paediatric T1D. METHOD: A qualitative study using semistructured interviews was conducted with a sample of GPs in Western Sydney. Data were analysed thematically. RESULTS: Thirty GPs reported varied experiences with paediatric T1D. Two themes emerged: 'You don't think of T1D everyday' (GPs do not frequently encounter T1D) and 'We need to be equipped' (despite low patient numbers, GPs want to be able to recognise, refer and assist in the management of children with T1D). DISCUSSION: There is limited Australian research into GPs' ability to diagnose and manage children with T1D. This study highlights the current level of knowledge and referral practices of a sample of GPs.

Biopsychosocial characteristics of children admitted with failure to thrive.

AIMS: The aim of this study was to characterise and compare the biopsychosocial characteristics of children admitted with failure to thrive (FTT), subdivided into those with underlying medical complexities (categorised as organic FTT - OFTT) and those with none (categorised as non-organic FTT - NOFTT), with a focus on the medical, nutritional, feeding skills and psychosocial domains. METHODS: A retrospective review of medical records was conducted in children admitted with FTT from January 2010 to December 2020. Descriptive statistics were used for data analysis. RESULTS: A total of 353 children were included, with the mean age of presentation 0.82 ± 2.05 years (OFTT 1.16 ± 2.50 years, NOFTT 0.49 ± 1.41 years, P = 0.002). Approximately, half of the children were classified as having OFTT. These children had lower birth weights, were more likely to have a history of intrauterine growth restriction and had longer hospital stays. The NOFTT group had significantly more abnormal feeding strategies identified in their caregivers, whereas the OFTT group had more delayed feeding skills and oral aversion. There was no significant difference in psychosocial domains, with both groups having a comparably high risk of abuse and neglect. CONCLUSIONS: The classification of FTT as non-organic or organic based purely on psychosocial parameters did not reflect the complex nature of FTT within our local population. These groups had different medical variables, and caregiver feeding strategies. A multidisciplinary team approach is recommended for the assessment and intervention for children with FTT to address these domains and the complex interactions between them.

Characteristics of non-urgent neonatal presentations to an Australian metropolitan emergency department.

AIM: To determine characteristics and risk factors for non-urgent presentations (NUPs) (triage categories 4 and 5) in neonates to a Western Sydney metropolitan mixed adult emergency department (ED) and the effect of COVID-19 on presentations and admissions. METHODS: A retrospective medical record study examined neonates (age <4 weeks) presenting to the ED between October 2019 and September 2020 and assessed risk factors for NUPs including the impact of COVID-19. Regression analysis was used to determine which risk factors were significant for NUPs to ED and whether there were any significant differences in urgency of presentations and admissions during the post-COVID-19 time (on/after 11th March 2020). RESULTS: From 277 presentations, 114 (41%) were non-urgent. After regression analysis, being a mother born overseas (odds ratio 2.15, 95% confidence interval 1.13-4.12, P = 0.02) was a significant risk factor and maternal age (odds ratio 0.98, 95% confidence interval 0.96-0.1.00, P = 0.02) was a significant protective factor for NUPs in the neonatal period. There were 54 (47%) NUPs pre-COVID-19 and 60 (53%) NUPs post-COVID (P = 0.70). There were similar presenting complaints and diagnoses compared to the literature. CONCLUSIONS: Mothers born overseas and younger maternal age were found to be significant risk factors for NUPs in the neonatal period. There was no apparent impact on presentations and admissions to ED during the COVID-19 period. Further studies are warranted to further evaluate risk factors for NUPs in the neonatal period and further elucidate the impact of COVID-19 on presentations and admissions, specifically in later waves of the virus.