Search Results (878)

Introduction: Biodegradable Temporizing Matrix (BTM) is a new synthetic dermal substitute suitable for wound closure and tissue regeneration. The data in paediatric population remain limited. The study purpose is to review the indications for BTM application in paediatric patients, evaluate the short-term and long-term results, including complications and functional outcomes, as well as to share some unique observations regarding the use of BTM in paediatric population. Patients and Methods: Patients undergoing reconstructive surgery and BTM application during the last three years were included. Data collected included patient demographics, primary diagnosis, previous surgical management, post-operative complications and final outcomes. BTM was used in 32 patients. The indications varied including epidermolysis bullosa (n = 6), burns (n = 4), trauma (n = 7), infection (n = 4), ischemia or necrosis (n = 11). Results: The results were satisfying with acceptable aesthetic and functional outcomes. Complications included haematoma underneath the BTM leading to BTM removal and re-application (n = 1), BTM infection (n = 1) and split-thickness skin graft failure on top of BTM requiring re-grafting (n = 2). Conclusions: BTM can be a good alternative to large skin grafts, locoregional flaps or even free flaps. The big advantages over other dermal substitutes or skin grafts are that BTM is less prone to infection and offers excellent scarring by preserving the normal skin architecture. Specifically in children, BTM might not require grafting, resulting in spontaneous healing with good scarring. In critically ill patients, BTM reduces the operation time and there is no donor site morbidity. BTM should be considered in the reconstructive ladder when discussing defect coverage options in children and young people. Full article

Background/Objectives: In many parts of the world, pharmacists hold the primary responsibility for providing safe and effective pharmacotherapy. A key aspect is the availability of appropriate medicines for each individual patient. When industrially manufactured medicines are unsuitable or unavailable, pharmacists can prepare tailor-made medicines. While this principle applies globally, practices vary between countries. In the Netherlands, the preparation of medicines in pharmacies is well-established and integrated into routine healthcare. This narrative review explores the role and significance of extemporaneous compounding, pharmacy preparations and related product care in the Netherlands. Methods: Pharmacists involved in pharmacy preparations across various professional sectors, including community and hospital pharmacies, central compounding facilities, academia, and the professional pharmacists’ organisation, provided detailed and expert insights based on the literature and policy documents while also sharing their critical perspectives. Results: We present arguments supporting the need for pharmacy preparations and examine their position and role in community and hospital pharmacies in the Netherlands. Additional topics are discussed, including the regulatory and legal framework, outsourcing, quality assurance, standardisation, education, and international context. Specific pharmacy preparation topics, often with a research component and a strong focus on product care, are highlighted, including paediatric dosage forms, swallowing difficulties and feeding tubes, hospital-at-home care, reconstitution of oncolytic drugs and biologicals, total parenteral nutrition (TPN), advanced therapy medicinal products (ATMPs), radiopharmaceuticals and optical tracers, clinical trial medication, robotisation in reconstitution, and patient-centric solid oral dosage forms. Conclusions: The widespread acceptance of pharmacy preparations in the Netherlands is the result of a unique combination of strict adherence to tailored regulations that ensure quality and safety, and patient-oriented flexibility in design, formulation, and production. This approach is further reinforced by the standardisation of a broad range of formulations and procedures across primary, secondary and tertiary care, as well as by continuous research-driven innovation to develop new medicines, formulations, and production methods. Full article

An increase in invasive group A streptococcal (iGAS) infections among children under 15 years of age was reported in several countries between late 2022 and early 2023. This retrospective study aims to describe the epidemiology and clinical features of iGAS infections in children in Cyprus during the same period. Medical records of patients under 16 years old admitted with iGAS infection to the Archbishop Makarios Hospital, the only tertiary paediatric referral centre in Cyprus, between 1 January 2021 and 30 June 2024, were reviewed. Twenty-two cases were identified, of which twenty were classified as confirmed and two as probable. Half of the cases occurred in children aged 0–4 years, and 59% were recorded between December 2022 and April 2023. Scarlet fever was diagnosed in six children, five of whom developed pneumonia and empyema. Streptococcal toxic shock syndrome (STSS) was observed in five patients, resulting in two deaths and one case requiring prolonged extracorporeal membrane oxygenation (ECMO). The overall case fatality rate was 9.1%. Emm 1, belonging to the M1UK clone, was the predominant strain (66.6%). The findings underscore the severity of iGAS infections, particularly in younger children, and highlight the importance of timely diagnosis, appropriate management and continued epidemiological surveillance. Full article

Neuronal ceroid lipofuscinoses (NCLs) are paediatric neurodegenerative disorders that primarily affect the central nervous system (CNS). The high prevalence of gastrointestinal (GI) symptoms has prompted researchers and clinicians to move beyond an exclusively “brain-centric” perspective. At the molecular level, mutations in CLN genes lead to lysosomal dysfunction and impaired autophagy, resulting in intracellular accumulation of storage material that disrupts both central and enteric neuronal homeostasis. To systematically examine current clinical and preclinical knowledge on gut involvement in NCLs, with a focus on recent findings related to the enteric nervous system and gut microbiota. We conducted a systematic review following the PRISMA guidelines using PubMed as the sole database. Both clinical (human) and preclinical (animal) studies were included. A total of 18 studies met the inclusion criteria, focusing on gastrointestinal dysfunction, nervous system involvement, and gut microbiota. We found that the nature of GI symptoms was multifactorial in NCLs, involving not only the CNS but also the autonomic and enteric nervous systems, which were affected early by lysosomal deposits and enteric neuron degeneration. Of note, preclinical studies showed that gene therapy could improve not only CNS manifestations but also GI ones, which may have beneficial implications for patient care. While the role of the ENS seems to be clearer, that of gut microbiota needs to be further clarified. Current evidence from preclinical models highlighted alterations in the composition of the microbiota and suggested a possible influence on the progression and modulation of neurological symptoms. However, these results need to be confirmed by further studies demonstrating the causality of this relationship. GI involvement is a key feature of NCLs, with early impact on the enteric nervous system and possible links to gut microbiota. Although preclinical findings—particularly on gene therapy—are encouraging due to their dual impact on both CNS and GI manifestations, the causal role of the gut microbiota remains to be fully elucidated. In this context, the development of sensitive and specific outcome measures to assess GI symptoms in clinical trials is crucial for evaluating the efficacy of future therapeutic interventions. Full article

Background: Phenylketonuria (PKU) is a metabolic disorder managed through a strict, lifelong low-phenylalanine diet, which may influence gut microbiome dynamics. While gut bacterial alterations in PKU are increasingly investigated, the fungal community (mycobiome) remains largely unexplored. This study compared gut mycobiome composition and dietary profiles of paediatric PKU patients and healthy controls, stratified by age (<10 and 10–18 years). Methods: Stool samples from 20 children (10 PKU, 10 controls) were analysed using ITS1/ITS2 amplicon sequencing. Nutritional status was assessed using Body Mass Index percentiles (Polish standards), and nutrient intake was evaluated from three-day dietary records compared to national reference values. Correlations between fungal taxa and dietary factors were explored. Results: Although alpha diversity did not differ significantly, beta diversity and LEfSe analyses revealed distinct fungal profiles between PKU patients and controls, indicating a trend toward group separation (PERMANOVA: F = 1.54646, p = 0.09; ANOVA: p = 0.0609). PKU patients showed increased Eurotiales (p = 0.029), Aspergillaceae (p = 0.029), and Penicillium (p = 0.11) and decreased Physalacriaceae (0% vs. 5.84% in controls) and Malassezia (p = 0.13). Spearman’s analysis showed significant correlations between Geotrichum and intake of protein (ρ = 0.55, p = 0.0127) and phenylalanine (ρ = 0.70, p = 0.0005). Conclusions: Dietary treatment in PKU is associated with age-dependent shifts in the gut mycobiome, notably increasing the abundance of taxa such as Eurotiales, Aspergillaceae, and Penicillium, involved in carbohydrate/lipid metabolism and mucosal inflammation. These findings highlight the potential of gut fungi as nutritional and clinical biomarkers in PKU. Full article

Background: Paediatric hepatocellular carcinoma (HCC), including its fibrolamellar variant (FLC), is a rare malignancy with distinct biological behaviour and limited therapeutic options. While complete surgical resection is a key determinant of survival, many patients present with unresectable tumours at diagnosis. The role of neoadjuvant chemotherapy in improving resectability, particularly in histologically distinct subtypes, remains inconclusive. Methods: We retrospectively analysed 43 patients (<18 years) with histologically confirmed conventional HCC (cHCC, n = 27) or FLC (n = 16) enrolled in the German Pediatric Liver Tumour Registry. We assessed clinical characteristics, treatment response, surgical outcomes, and survival. Special focus was placed on the impact of neoadjuvant chemotherapy in initially unresectable tumours. Results: FLC and cHCC exhibited significant differences in clinical presentation, such as age of presentation, AFP elevation, or presence of underlying liver disease. Although overall survival did not significantly differ between groups, cHCC tumours showed a markedly higher response to chemotherapy (62.5% partial remission vs. 0% in FLC). Complete resection (R0) was achieved in 77% of all patients and was the strongest predictor of survival. Importantly, a subset of cHCC patients who initially had unresectable tumours became eligible for curative surgery following neoadjuvant chemotherapy. Notably, delayed resection after chemotherapy led to outcomes comparable to those with upfront surgery, whereas progression during chemotherapy was associated with a universally poor prognosis. Conclusions: This study supports upfront resection as the preferred strategy in paediatric HCC and FLC whenever feasible. In cHCC, neoadjuvant chemotherapy demonstrated a favourable response profile and contributed to secondary resectability in a subset of initially unresectable cases, supporting a potential role within a multimodal treatment approach. In contrast, FLC showed limited responsiveness to current systemic therapies. These findings emphasise the importance of histology-specific strategies and highlight the ongoing need for more effective systemic options, particularly for unresectable FLC. Full article

Background: Staphylococcus spp. represent the most prevalent Gram-positive organisms in children with malignancies or undergoing haematopoietic cell transplantation (HCT), contributing to significant morbidity and mortality. This study aimed to assess the epidemiology, risk factors, treatment strategies, and outcomes of staphylococcal infections (SIs) in paediatric haemato-oncology (PHO) and HCT patients in Poland over a 12-year period. Methods: A retrospective, multicentre study was conducted across 17 paediatric oncology centres in Poland. The clinical and microbiological data of patients under the age of 18, diagnosed with malignancies or post-HCT, were analysed for confirmed SI between 2012 and 2023. The variables assessed included demographics, underlying conditions, infection type and source, antimicrobial susceptibility, treatment, and 30-day infection-free survival. Results: Among 1725 patients with SI, 1433 were PHO and 292 were HCT patients. The cumulative incidence of SI was 12.7% in PHO and 14.3% in HCT patients (p = 0.008). The 30-day survival rate was significantly higher in PHO compared to HCT patients (98.4% vs. 93.2%, p < 0.001). Most deaths were caused by S. epidermidis, S. haemolyticus, and S. hominis, predominantly involving methicillin-resistant coagulase-negative Staphylococci (MRCNS). Multivariate Cox regression identified undergoing HCT (HR = 3.0, 95% CI: 1.6–5.6, p < 0.001) and treatment of infection > 10 days (HR = 2.0, 95% CI: 1.1–3.6, p = 0.019) as independent risk factors for mortality. Conclusions: Staphylococcal infections pose a significant challenge in paediatric oncology and transplant populations. Optimising prevention, diagnostics, and antimicrobial therapy is crucial for improving outcomes in these high-risk groups. Full article

Background: Computed Tomography (CT) imaging is widely recognised for its high capability in assessing multiple organs. However, concerns about patient radiation exposure, particularly in children, pose significant challenges. Objective: This study aimed to establish diagnostic reference levels (DRLs) for paediatric patients in the most common CT examinations to monitor and better control radiation doses. Methods: Dosimetry records from 5956 patients’ scans for the four most common CT imaging examinations—Head, Chest, Abdomen Pelvis (AP), and Chest Abdomen Pelvis (CAP)—were considered. The CT dosimetric quantities (CT dose-index volume (CTDI_vol) and dose-length product (DLP)), along with patient demographics (age and weight), were collected from radiology data storage systems. DRLs for CTDI_vol and DLP were determined for each imaging examination, stratified by patient age and weight groups, in accordance with ICRP recommendations. Results: The derived DRLs are presented as [median CTDI_vol (mGy): median DLP (mGy·cm)]. For (<1 yr): Head: 13:187, Chest: 0.4:7, AP: 0.9:19, CAP: 0.4:10. For (1–5 yrs): Head: 16:276, Chest: 1:22, AP: 1.5:58, CAP: 1.6:63. For (6–10 yrs): Head: 19:332, Chest: 1.4:35, AP: 1.9:74, CAP: 2:121. For (11–15 yrs): Head: 21:391, Chest: 3:86, AP: 4.1:191, CAP: 3:165. We observed that both the CTDI_vol and DLP DRL values increase with patient age. Weight-based DRLs follow similar trends for CTDI_vol, while DLP values show noticeable variations in Chest and AP examinations. Conclusions: The study findings highlight the need for review and optimisation of certain scanning protocols, particularly for chest and AP examinations. The derived DRLs are consistent with findings from other studies. The study recommends establishing national paediatric DRLs to enhance radiology practice across the country and ensure adherence to international safety standards. Full article

Background and clinical significance: Ectopic ureters are a rare urinary tract malformation, typically diagnosed in childhood and infrequently in adulthood. The prenatal detection by ultrasound and magnetic resonance imaging (MRI) of this clinical entity has scarcely been reported. Careful foetal scanning during the late second and third trimester might provide clues and lead to prenatal detection. However, even the postnatal diagnosis is challenging, and often delayed towards adulthood, since the condition may present with nonspecific symptoms, leading to underdiagnosis or misdiagnosis. In female patients, approximately 25% of ectopic ureters open into the vagina. Due to the high risk of recurrent urinary tract infections and the potential development of uretero-hydronephrosis, timely diagnosis is essential, and prompt surgical correction is mandated. Case presentation: We report the case of a 33-year-old GII PI patient diagnosed with cystic dysplasia of the left foetal kidney at the 16 WG (weeks of gestation) scan. The malformation was consistent at 21 WG when karyotyping by amniocentesis identified a normal female molecular karyotype. MRI performed at 28 weeks confirmed the left renal dysplasia and raised the suspicion of an abnormal insertion of the left ureter into the vagina. After delivery, the vaginal ureteral ectopy was confirmed at 3 weeks postpartum via cystoscopy. Postpartum whole exome sequencing identified a variant of uncertain significance (VUS) mutation in the SOX 13 gene (SRY-box transcription factor 13). Renal scintigraphy performed 7 months postnatally identified a hypo/afunctional left kidney which led to the indication of nephrectomy by the paediatric urologist. The surgical intervention was performed at 8 months postpartum with a favourable outcome. Conclusions: Ectopic ureters are a pathology generating life-long morbidity and discomfort of the offspring and young adult. Awareness to this pathology must be raised among clinicians, especially regarding the potential detection by minute prenatal ultrasound examinations, followed by MRI to refine diagnosis. Postnatally, the persistence of suspicious yet unspecific symptoms, in both males and females, must trigger thorough imaging/cystoscopic examination to reach diagnosis and provide correct management. Full article

Background/Objectives: Childhood cancer, although relatively rare, has a profound impact on the quality of life of affected children and their families. Technological advances have facilitated the development of mobile applications (apps) aimed at enhancing symptom monitoring and improving communication with healthcare teams. This systematic review aimed to analyse the effect of mobile applications on the health of children with cancer, with a specific focus on health-related quality of life (HRQoL). Methods: A systematic review was conducted in accordance with PRISMA 2020 guidelines. Searches were performed in PubMed (Medline), CINAHL, Cochrane and Scopus databases using MeSH terms such as Smartphone, Mobile Applications, Child Health, Neoplasms, and Digital Health, with no date restrictions, and including studies published in English, Spanish or Portuguese. We included original research studies that examined the use of mobile apps in paediatric oncology patients. The search was completed in January 2025. Results: Of the 324 records initially identified, 14 studies (mainly pilot studies, early-phase clinical trials, and observational designs) met the inclusion criteria. Interventions commonly focused on symptom tracking (pain, nausea, fatigue), promoting treatment adherence, and delivering educational content. Several studies reported high user acceptance and a potential positive impact on HRQoL, particularly when gamification strategies were incorporated to sustain children’s engagement. Conclusions: Despite the preliminary nature and small sample sizes of most studies, mobile applications appear to be effective in supporting symptom management, communication, and health education in paediatric oncology. Their use may contribute to improvements in HRQoL. Further high-quality research involving younger children and diverse socio-cultural contexts is required to confirm their effectiveness. Full article

Background: Trauma-related injuries are among the most common reasons for paediatric hospital presentations and represent a substantial component of orthopaedic care. Their management poses unique challenges due to ongoing skeletal development in children. While most reported fractures occur at home or during sports, prior studies have primarily used data from urban European populations, limiting the relevance of their findings for rural and regional settings. Urban-centred research often informs public healthcare guidelines, treatment algorithms, and infrastructure planning, introducing a bias when findings are generalised outside of metropolitan populations. This study addresses that gap by analysing fracture data from two rural trauma centres in New South Wales, Australia. This study assesses paediatric fractures resulting from severe injury mechanisms in rural areas, identifying common fracture types, underlying mechanisms, and treatment approaches to highlight differences in demographics. These findings aim to cast a light on healthcare challenges that regional areas face and to improve the overall cultural safety of children who live and grow up outside of the metropolitan trauma networks. Methods: We analysed data from two major rural referral hospitals in New South Wales (NSW) for paediatric injuries presenting between 1 January 2018 and 31 December 2022. This study included 150 patients presenting with fractures following severe mechanisms of injury, triaged into Australasian Triage Scale (ATS) categories 1 and 2 upon initial presentation. Results: A total of 150 severe fractures were identified, primarily affecting the upper and lower limbs. Males presented more frequently than females, and children aged 10–14 years old were most commonly affected. High-energy trauma from motorcycle (dirt bike) accidents was the leading mechanism of injury among all patients, and accounted for >50% of injuries among 10–14-year-old patients. The most common fractures sustained in these events were upper limb fractures, notably of the clavicle (n = 26, 17.3%) and combined radius/ulna fractures (n = 26, 17.3%). Conclusions: Paediatric trauma in regional Australia presents a unique and under-reported challenge, with high-energy injuries frequently linked to unregulated underage dirt bike use. Unlike urban centres where low-energy mechanisms dominate, rural areas require targeted prevention strategies. While most cases were appropriately managed locally, some were transferred to tertiary centres. These findings lay the groundwork for multi-centre research, and support the need for region-specific policy reform in the form of improved formal injury surveillance, injury prevention initiatives, and the regulation of under-aged off-road vehicular usage. Full article

Implementing neonatal hearing screening has significantly reduced the age at which hearing impairments are detected in children. Nevertheless, objective electrophysiological assessments, such as auditory brainstem response (ABR) or auditory steady-state response (ASSR) testing, are often necessary for children older than six months. These evaluations should be conducted while the child is asleep to obtain accurate and interpretable results, as movement and muscle activity can introduce artifacts that compromise the quality of the recordings. In this narrative review, we evaluate sedation strategies in paediatric procedures, focusing on the efficacy, safety, and practicality of agents/routes for inducing sleep during ABR/ASSR testing. Sedation choices should prioritise patient safety, clinical context, and result reliability and be tailored to the individual’s age, health status, and procedural needs. Full article

Music therapy in paediatric palliative care offers a unique opportunity for emotional support, legacy creation, and therapeutic connection for children and their families. This paper describes the Heartbeats Intervention, as delivered by a paediatric palliative care music therapist at Sydney Children’s Hospital Australia. This intervention involves recording and creatively integrating the heartbeats of children and family members into personalised musical compositions. Originally inspired by music therapist Brian Schreck’s work, the intervention has evolved to meet diverse therapeutic goals, from soothing children with serious illnesses (including cancer) with recordings of their families’ heartbeats to creating legacy song tracks that support families through bereavement. Despite some logistical and resource challenges, the intervention has been well-received and continues to expand, including the integration of environmental soundscapes and broader community involvement, which allows the intervention to be experienced by a greater number of families. This paper contributes to the limited but growing literature on music therapy in paediatric palliative care, highlighting the Heartbeats Intervention as a flexible and meaningful way to enhance psychosocial support and connection for children and their families. Further research to evaluate its long-term impact and to explore children’s direct experiences of the intervention is needed. Full article

Background: One of the major challenges for children and adolescents with sickle cell disease (SCD) is academic performance. Objectives: Our study aimed to evaluate the academic performance of children and adolescents with SCD in Benin and compare it to the academic performance of their healthy siblings and paediatric comparisons. Furthermore, we aimed to explore the associations between socio-demographic factors, clinical characteristics, and depressive symptoms, and the academic performance of children and adolescents with SCD. Methods: The study was a cross-sectional study that used convenient sampling. Academic scores were collected during the 2021–2022 academic year. Patients with SCD and paediatric comparisons were recruited during routine hospital consultations. The Children’s Depression Inventory (CDI-S) tool was used to assess depressive symptoms. We compared academic performance scores (ranging from 0 to 20) using independent t-tests and explored associations through linear regression analyses. Results: This study included 209 participants: 100 patients with SCD (aged 6 to 17 years), 46 siblings, and 63 paediatric comparisons. The academic performance of patients with SCD (mean academic score = 13.29) was similar to that of the combined comparison group (mean academic score = 12.8, p = 0.196). Younger patients showed poorer academic performance (coef = −0.169, p = 0.019), and depressive symptoms (‘pessimism’, ‘self-hate’, ‘lack of friends’, and ‘fatigue’) were associated with poorer academic performance as well. Patients with SCD who were treated in Benin performed academically as well as their healthy siblings and peers. Conclusions: Children and adolescents with SCD performed on par academically with their healthy siblings and peers. While overall depressive symptoms were not significantly associated with academic performance, certain symptoms were more common among lower-performing students and should therefore be explored in greater detail. Full article

Background/Objectives: Coeliac disease is an immune-mediated disorder of the gastrointestinal tract that may result in significant nutritional deficiencies. Effective management requires strict, lifelong adherence to a gluten-free diet. Both underdiagnosis and unnecessary dietary restrictions can adversely affect patients’ health and quality of life. To assess adherence to the current recommendations for the laboratory diagnosis of coeliac disease and promote evidence-based practices while reducing inter-laboratory variability, the Spanish Group on Autoimmunity of the Spanish Society of Immunology conducted a nationwide survey. Methods: A thirty-item survey was distributed to fifty autoimmune laboratories across Spain. Data were collected through a structured Excel-based questionnaire comprising multiple-choice items, which was distributed via email to the participating laboratories. It explored practices related to the diagnosis of coeliac disease in the general population and among at-risk groups as well as approaches to patient follow-up and demand management. Results: Thirty-five laboratories completed the electronic questionnaire. For the serological screening of coeliac disease, all the respondents reported using IgA anti-tissue transglutaminase (tTG-IgA) antibody testing together with total IgA measurement to assess IgA competence. However, consistent use of anti-endomysial antibody testing and HLA genotyping and adherence to pre-analytical recommendations for accurate interpretation of results were not uniform across centres. Conclusions: At the time these data were collected (the third trimester of 2021), the 2020 ESPGHAN guidelines for the diagnosis of coeliac disease in the paediatric population had not yet been fully implemented in most of the laboratories surveyed. For diagnosing adults, most laboratories adhered to local and European guidelines. Full article