Search Results (90)

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

Measles remains a major public health issue, particularly among paediatric populations who are unvaccinated or lack of maternal antibody transfer. Although the majority of cases manifest with moderate clinical forms, certain patient categories are at risk for severe disease progression. This study aims to describe the clinical and epidemiological characteristics of paediatric measles cases hospitalized in the Paediatric Departments of the “Prof. Dr. Matei Balș” National Institute of Infectious Diseases, Bucharest, Romania during two distinct epidemic waves: 2017–2019 and 2023–2024. A retrospective analysis evaluated mortality rates, distribution by age and sex, as well as clinical disease patterns. The 2023–2024 measles epidemic was marked by a higher number of paediatric cases (3.114 vs. 1.068), a lower mortality rate (0.32% vs. 3.74%), a shift towards older age groups, and a greater frequency of complications—particularly gastrointestinal, haematological, and ophthalmological—compared to the 2017–2019 wave. The findings underscore the urgent need for strengthened vaccination programs and targeted public health interventions, particularly among vulnerable groups and patients at risk of developing severe forms of the disease. Owing to a sustained decline in measles vaccination coverage among the paediatric population, Romania has experienced two major measles outbreaks within the past decade, interrupted by the COVID-19 pandemic. This study draws attention to the increasing incidence of measles in older children, suggesting a cumulative effect of reduced immunization rates over time. Full article

Background/Objectives: Megacystis–microcolon–intestinal hypoperistalsis syndrome (MMIHS) is characterized by smooth muscle dysfunction and results in severe bladder dilatation and intestinal dysmotility. Prenatal diagnosis is challenging due to the non-specific nature of ultrasound findings and the limitations of current genetic testing. We present a case of persistent fetal megacystis, with genetic testing confirming MMIHS, and a systematic review of prenatally diagnosed cases. Methods: An electronic search of the PubMed, Medline, Web of Science and CORE databases was conducted to identify reports of genetic prenatal diagnoses of MMIHS. The inclusion criteria were cases of prenatally suspected MMIHS with a genetic diagnosis based on prenatal samples. Reports that described neonatal or paediatric cases or lacked clinical details or genetic testing results were excluded, and the clinical details for the included cases were collected. Results: We identified six publications describing 17 cases of MMIHS confirmed on genetic testing. Including our case, 18 cases are described in this manuscript. Most cases (72.2%) presented in the second or third trimester of pregnancy; the majority (55.6%) were due to ACTG2 mutations. All cases had fetal megacystis detected on ultrasound. Five cases (27.8%) also had a known family history of MMIHS. The majority of the cases (77.8%) resulted in the termination of pregnancy. Conclusions: MMIHS is a rare condition with significant morbidity and mortality and prenatal diagnosis remains challenging. ACTG2 mutations are described in over half of these cases. These data contribute to the limited literature on its prenatal presentation and the evolving role of prenatal molecular genetic testing. Full article

Background: Invasive fungal disease is a significant cause of morbidity and mortality in allogeneic hematopoietic stem cell transplant (alloHSCT) recipients. Posaconazole, a broad-spectrum triazole, is widely used as prophylaxis. Methods: We conducted a monocentric, retrospective study to present real-world data on posaconazole trough levels in paediatric alloHSCT patients. The main objective was to determine the required daily dose of posaconazole in paediatric patients. We analysed factors influencing posaconazole levels, and the association between posaconazole levels and breakthrough fungal infection. Results: Among 102 allogeneic HSCT recipients, we measured posaconazole plasma concentrations in 548 blood samples. The required daily doses to reach a target range of 0.7–2.0 mg/L were 15.22 (suspension), 7.52 (tablet), and 7.84 mg/kg (intravenous). Patients aged < 13 years needed higher doses to achieve the target range. The presence of enteral symptoms during prophylaxis was associated with lower plasma concentrations (p < 0.001), while co-administration of proton pump inhibitors did not (p = 0.09). Eight breakthrough infections occurred; low levels of posaconazole (<0.7 mg/L) were observed in five out of eight cases. The Cox regression model showed that higher mean plasma concentrations decreased the hazard of breakthrough infections. Conclusions: The tablet and intravenous formulations of posaconazole outperformed the suspension in terms of predictability. Our analyses on breakthrough infections and posaconazole plasma levels suggest an exposure–response relationship. Full article

Chronic liver disease (CLD) in children poses significant challenges, necessitating timely management to mitigate morbidity and mortality. Liver transplantation (LT) has emerged as a transformative intervention, offering improved long-term survival for paediatric patients with CLD. This review explores the evolving landscape of liver transplantation, focusing on indications and timing considerations. The aetiology of CLD is diverse, encompassing intrahepatic, extrahepatic cholestatic conditions, metabolic diseases, malignancy, and drug-induced liver injury. LT is indicated when children exhibit signs of hepatic decompensation, necessitating a comprehensive evaluation to assess transplant suitability. Indications for LT include biliary atresia, inborn errors of metabolism, hepatocellular carcinoma, and emerging indications such as mitochondrial hepatopathies and acute on chronic liver failure. The timing of transplantation is critical, emphasizing the need for early recognition of decompensation signs to optimise outcomes. Advancements in LT techniques and immunosuppressive therapies have enhanced patient and graft survival rates. Various transplant modalities, including reduced-size LT and living-related LT, offer tailored solutions to address the unique needs of paediatric patients. While LT represents a cornerstone in the management of paediatric CLD, careful patient selection, multidisciplinary collaboration, and ongoing refinements in transplant protocols are imperative for optimizing outcomes and addressing the evolving landscape of paediatric liver disease management. Full article

Background: Neonatal sepsis is a major cause of infant mortality, and it accounts for a significant consumption of antimicrobials in paediatrics. This is the first comprehensive study on neonatal sepsis in Hong Kong. Methods: From 2014 to 2023, all neonates admitted to a single institution with culture-proven infections from the blood and/or cerebrospinal fluid were selected and reviewed retrospectively. The infecting organisms, their antibiotic nonsusceptibility pattern, and the concordance of empirical antimicrobial therapy with the microbiological profiles were described and were further compared between infants of normal/low birth weight (≥1.5 kg) and very low/extremely low birth weight (<1.5 kg), early-onset sepsis (<72 h), and late-onset sepsis (4–28 days), the first and the second 5-year periods (2014–2018 vs. 2019–2023). Results: After contaminants were excluded, there were 118 affected neonates with 125 organisms identified. Fifty-nine were male. Thirty-four were very low/extremely low birth weight infants, and twenty-eight infants had early-onset sepsis. Patient demographics and the microbiology findings did not differ between the first 5 years and the latter 5 years. However, the incidence of neonatal sepsis was significantly lower in the latter 5 years (3.23 vs. 1.61 per 1000 live births, p < 0.001), the period that coincided with the COVID-19 pandemic. Escherichia coli was the most common Gram-negative pathogen. Streptococcus agalactiae and Streptococcus bovis group infections were more common in early-onset sepsis, while coagulase-negative Staphylococcus and non-E. coli Gram-negative pathogens were more likely to occur in late-onset sepsis. In very low/extremely low birth weight infants, the rate of cefotaxime or ceftriaxone nonsusceptibility among Gram-negative isolates was higher (p = 0.01), and concordance of empirical antimicrobial therapy was lower (p = 0.006). Conclusions: Management of neonatal sepsis remains challenging, and there is a need for optimising antimicrobial therapy, especially in preterm patients. Antepartum screening with intrapartum antibiotic prophylaxis is effective in reducing the risk of early-onset sepsis associated with S. agalactiae, while stringent infection control measures are important for the prevention of late-onset sepsis. Full article

Schimke immuno-osseous dysplasia (SIOD) is a hereditary autosomal-recessive multi-system disorder with early mortality. It has variable clinical presentations, mainly characterised by disproportional short stature, steroid-resistant nephrotic syndrome, spondyloepiphyseal dysplasia, and T-cell immunodeficiency. In the majority of cases, SIOD is caused by pathogenic sequence variants (PSVs) in the SMARCAL1 gene that encodes protein involved in chromatin remodelling. SIOD is an ultra-rare condition, with an incidence of ~1 per 1–3 million live births; data on its genetic and clinical features are scarce. We conducted a retrospective study of 21 paediatric patients with SIOD diagnosed in our centre during the years 2003–2023. The most common extra-renal clinical features were short stature, osseous dysplasia, multiple stigmas, and leukopenia. Proteinuria of varying severity was observed in 16 cases. The five-year overall survival rate (OS) was 89% (95% CI 77–100%), and the ten-year OS was 10%. Next-generation sequencing (NGS) revealed the following PSVs in SMARCAL1 in 19 patients: c.355_500del, c.2542G>T, c.2290C>T, c.2562del, c.2533_2534del, c.1582A>C, c.1933C>T, c.1010T>C, c.1736C>T, c.2070dup, c.2551A>T, c.2149_2150dup, c.939delC, and c.1451T>A; the most common was c.2542G>T, resulting in premature translation termination (p.E848*), and it was found in 14 patients either in a homozygous (four patients) or compound-heterozygous (10 patients) state. According to microsatellite analysis, it is a “founder mutation” in Russia. Full article

Background/Objectives: Next-generation sequencing (NGS) can explain how genetics influence morbidity and mortality in children. However, it is unclear whether health providers will perceive and use such treatments. We conducted a discrete choice experiment (DCE) to understand Italian health professionals’ preferences for NGS to improve the diagnosis of paediatric genetic diseases. Methods: The DCE was administered online to 125 health professionals in Italy. We documented attributes influencing professionals’ decisions of NGS, including higher diagnostic yield, shorter counselling periods, cost, turnaround time, and the identification of fewer variants of unknown significance. Results: Results show that factors such as higher diagnostic yield, shorter counselling periods, lower costs, and faster turnaround times positively influenced the adoption of NGS tests. Willingness to pay (WTP) estimates varied from EUR 387 (95% CI, 271.8–502.9) for 7% increase in the diagnostic yield to EUR 469 (95% CI, 287.2–744.9) for a decrease of one week in the turnaround time. Responders would reduce diagnostic yield by 7% to decrease the turnaround time by one week in both the preference and the willingness to trade (WTT) spaces. Respondents prioritised diagnostic yield (RI = 50.36%; 95% CI 40.2–67.2%) compared to other attributes. Conclusions: therefore, health professionals value NGS for allowing earlier, more accurate genetic diagnoses. Full article

Background: Across the world, many populations have limited access to urology care resulting in local general surgeons performing emergency urology procedures. This systematic review aims to evaluate the nature and outcomes of emergency urological surgeries performed by general surgeons. Methods: A systematic review was undertaken according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines with MEDLINE, Embase, Web of Science, and Google Scholar searched from inception to June 2024 for studies where general surgeons performed emergent urological surgery. We excluded studies on paediatric urology, acute scrotum, and Fournier’s gangrene. The Downs and Black checklist was used to assess risk of bias. Results: From 2093 initial results, six studies were included after screening. Two studies were from Australia, two from the United States of America, and one each from India and South Africa. For 977 emergency urological interventions, general surgeons (n = 486) and urologists (n = 491) each performed approximately half of the surgeries. Mortality rates for general surgeon-performed urology ranged from 0 to 8.0%. One study compared outcomes between the two surgical specialties, showing no significant difference for mortality or complication rates. No follow-up data was reported. The most performed procedures by general surgeons were traumatic bladder repair, ureteric stent insertion, and percutaneous nephrostomy. Conclusions: General surgeons perform a wide spectrum of emergency urological surgery when needed. Targeted training and utilisation of general surgeons could improve patient access to emergency urological surgery. Full article

Neonatal mortality rates in developing countries are influenced by a complex array of factors. Despite advancements in healthcare, Angola has one of the highest neonatal mortality rates in sub-Saharan Africa, with significant contributors including premature birth, intrapartum events, tetanus, and sepsis. This study, utilizing key theoretical frameworks such as intersectionality, social determinants of health (SDOH), and ecosocial theory, aimed to identify the primary causes and contributing factors of neonatal mortality among infants admitted to the Neonatology Service at DBPH in Luanda from May 2022 to June 2023. A retrospective matched case–control design was employed, pairing each neonatal death with two surviving neonates based on age and sex. The analysis included 318 newborns, of whom 106 experienced hospital deaths. A stepwise binary logistic regression model was used to examine associations between variables and neonatal mortality. Variables with p < 0.25 in bivariate analysis were included in the multivariate model. Significant factors associated with neonatal mortality included the following: a low Apgar score at 1 min (<7) (OR 2.172; 95% CI: 1.436–4.731); maternal age under 20 years (OR 3.746; 95% CI: 2.172–6.459); home delivery (OR 1.769; 95% CI: 1.034–3.027); and duration of illness before admission ≥ 3 days (OR 2.600; 95% CI: 1.317–5.200). Addressing these issues requires urgent interventions, including improving Apgar score management through enhanced training for healthcare professionals, supporting young mothers with intensified maternal education, ensuring deliveries occur in appropriate healthcare settings, and improving universal health coverage and referral systems. These measures could be crucial for enhancing neonatal care and reducing mortality. Full article

Introduction: Anorexia nervosa (AN) is a psychiatric disorder with a high mortality rate and significant prevalence in the paediatric population. Preliminary reports during the COVID-19 pandemic suggested an increased incidence of AN among children and adolescents. The objective of this study was to analyse new cases of AN before, during, and after the pandemic, with a particular focus on the physical manifestations of the disease. Methods: This single-centre, retrospective study included new AN cases from the hospital database of a regional paediatric hospital (a reference centre for AN) between 2013 and 2023. Data analysed included the duration of the disease, body mass index (BMI), weight loss, length of hospitalisation, laboratory markers (leukopenia, anaemia, hypoproteinaemia, hyperferritinaemia, hypophosphataemia, dyslipidaemia, and hypothyroxinaemia) and clinical features of malnutrition (such as amenorrhea bradycardia, pericardial effusion, and cortical/subcortical atrophy). Results: This study was conducted in a Polish regional hospital. We analysed 228 hospitalized female patients aged 10 to 18 years diagnosed with AN, focusing on clinical characteristics, biochemical markers, and the impact of the COVID-19 pandemic. The COVID-19 pandemic was shown to have a significant impact, with longer hospitalisations observed during and after the pandemic and a lower BMI on admission post-pandemic compared to pre-pandemic. In addition, nutritional treatment became more prevalent over time while biochemical markers such as anaemia, hypothyroidism, hypophosphataemia, and dyslipidaemia were statistically more common post-pandemic. Conclusions: This study demonstrates a significant impact of the COVID-19 pandemic on the clinical course and hospitalisation patterns of paediatric patients with AN. These findings suggest that the pandemic may have exacerbated disease severity and altered treatment approaches, emphasizing the need for enhanced clinical management and follow-up strategies for AN in the paediatric population during such health crises. Full article

Background and objective: Paediatric malnutrition has a synergistic relationship with diarrhoea. In children under two years of age, diarrhoea occurs in more than half of malnutrition cases and is associated with increased duration of illness, increased length of hospital stays, increased morbidity, and mortality. A well-established relationship exists between diarrhoeal and various standalone forms of malnutrition, but their association with coexisting forms of malnutrition (CFM) has not yet been investigated. Thus, this study assessed the association of CFM with diarrhoea among Pakistani children using datasets retrieved from Demographic Health & Survey and UNICEF. Study design: A pooled analysis of datasets of Pakistan Demographic & Health Surveys (PDHS) and Multiple Indicator Cluster Surveys (MICS) from the year 2010 to 2018 was conducted. Methods: Data of 70,723 children aged below two years were analysed after excluding those with incomplete anthropometry and outliers. Findings: Of the total study population, this study reported the presence of either diarrhoea or malnutrition or both in over half of Pakistani children aged between 0 and 23.9 months. Both standalone forms of undernutrition and coexisting forms of undernutrition were significantly associated with increased odds of diarrhoea by 1.07 (1.02 to 1.12) and 1.21 (1.16 to 1.27) times. The practice of breastfeeding, secondary/higher level of maternal education, and improvement in socioeconomic status reduced the risk of diarrhoea, while the children aged between 6 and 23.9 months residing in urban areas showed a high risk of diarrhoea. Conclusions: The presence of any type of undernutrition, i.e., standalone and/or coexisting forms were associated with increased risk of diarrhoeal diseases in children. An improvement in socioeconomic status, adherence to the continuation of breastfeeding, and maternal education are keys to reducing the burden of diarrhoea among children. Full article

Background: Spinal muscular atrophy (SMA) is a genetic neurodegenerative disease primarily affecting paediatric patients, often leading to significant morbidity and mortality. Our principal objective is to describe the sociodemographic characteristics and evaluate the association between the number of SMN2 copies and SMA type in patients from the Colombian Foundation for Spinal Muscular Atrophy (FAMECOL) database. Methodology: An analytical cross-sectional study was conducted on 201 patients with a genetic diagnosis of SMA. Data were identified, extracted, and collected from patient records provided by FAMECOL as patients registered with the association, including 201 patients from April 2013 to April 2024, when the database was delivered. Qualitative variables were described using relative and absolute frequencies, while quantitative variables were described using central tendency and dispersion measures according to their distribution. The association between the SMA type and the SMN2 number of copies was assessed by Fisher’s exact test (1 to 5 copies). Results: Of the 201 patients studied, 42% were female (n = 85), and 58% were male (n = 116). The median age was 9 years (IQR 4–16 years). The median age at diagnosis was 9 years (IQR 4–16), varying by subgroup: 2, 7, 14, and 41.5 years for each type, respectively. A total of 25% patients were from Antioquia (n = 51). Eighty-nine per cent had gastrostomy (n = 18). The association between the two variables was statistically significant (p < 0.05). Conclusion: This study highlights SMA clinical variability and its association with the number of SMN2 copies, underscoring the importance of a personalised approach to diagnosing and managing this disease. The findings may guide more effective therapeutic strategies to improve patients’ quality of life. Full article

Mortality in children accounts for 15% of all AIDS-related deaths globally, with a higher burden among Cameroonian children (25%), likely driven by poor virological response. We sought to evaluate viral suppression (VS) and its determinants in a nationally representative paediatric and young adult population receiving antiretroviral therapy (ART). A cross-sectional and multicentric study was conducted among Cameroonian children (<10 years), adolescents (10–19 years) and young adults (20–24 years). Data were collected from the databases of nine reference laboratories from December 2023 to March 2024. A conditional backward stepwise regression model was built to assess the predictors of VS, defined as a viral load (VL) <1000 HIV-RNA copies/mL. Overall, 7558 individuals (females: 73.2%) were analysed. Regarding the ART regimen, 17% of children, 80% of adolescents and 83% of young adults transitioned to dolutegravir (DTG)-based regimens. Overall VS was 82.3%, with 67.3% (<10 years), 80.5% (10–19 years) and 86.5% (20–24 years), and p < 0.001. VS was 85.1% on a DTG-based regimen versus 80.0% on efavirenz/nevirapine and 65.6% on lopinavir/ritonavir or atazanavir/ritonavir. VS was higher in females versus males (85.8% versus 78.2%, p < 0.001). The VS rate remained stable around 85% at 12 and 24 months but dropped to about 80% at 36 months after ART initiation, p < 0.009. Independent predictors of non-VS were younger age, longer ART duration (>36 months), backbone drug (non-TDF/3TC) and anchor drug (non-DTG based). In this Cameroonian paediatric population with varying levels of transition to DTG, overall VS remains below the 95% targets. Predictors of non-VS are younger age, non-TDF/3TC- and non-DTG-based regimens. Thus, efforts toward eliminating paediatric AIDS should prioritise the transition to a DTG-based regimen in this new ART era. Full article

Cardiovascular diseases are the leading cause of morbidity and mortality in developed countries and are becoming increasingly significant in developing nations. Many cardiovascular risk factors originate early in life, even prenatally. Elevated blood pressure and hypertension are gaining attention in paediatrics due to their rising prevalence and impact on early cardiovascular risk in adulthood. Along with non-modifiable risk factors for hypertension, several modifiable factors can be addressed through primordial and primary prevention, emphasising lifestyle modifications. When these measures fail and elevated blood pressure develops, early detection is crucial (secondary prevention). Regular blood pressure measurement, a simple and non-invasive procedure, should be a standard practice in paediatric clinical settings. Diagnosing elevated blood pressure and hypertension should adhere to recommended guidelines. Lifestyle modifications are the first-line therapy for primary hypertension in children; if a secondary cause is identified, targeted treatment can be implemented, but a healthy lifestyle remains essential. The early detection and treatment of high-risk blood pressure enable timely interventions to prevent complications (tertiary prevention). Collectively, these preventive measures aim to reduce the incidence of cardiovascular disease in adulthood. Furthermore, quaternary prevention seeks to avoid unnecessary or harmful medical interventions including unwarranted examinations and pharmacotherapy. This underscores the importance of accurate diagnosis and treatment of elevated blood pressure and hypertension and emphasises the need for primordial and primary prevention to minimise unnecessary clinical interventions. Full article