Search Results (415)

Background and Objectives: The effect of growth hormone (GH) on body composition is well recognized, and recombinant human GH (rGH) therapy may improve lean mass and related parameters. The aim of this study was to analyze changes in body composition parameters and lipid profile under rGH treatment in children diagnosed with short stature and to explore potential influencing factors. Materials and Methods: A secondary data analysis was conducted in the Endocrinology Department of the Mures County Hospital, Romania, approved by the local Ethics Committee. All children diagnosed with short stature and receiving rGH treatment were eligible for inclusion if they had four body composition analyses at least 6 months apart. Analyzed variables included age, gender, environment, mean rGH dose, height and body mass index (BMI) SDS, body composition parameters assessed by bioimpedance, and family-related variables. Statistical analysis was performed using SPSS v.25 with a level of significance α = 0.05. Results: There was no statistically significant trend in body composition parameters taken during serial measurements, except for the sarcopenic index and height (p < 0.001). Environment, pubertal development, and family-related variables other than maternal BMI had no significant influence on body composition or lipid profile. Gender differences in body composition revealed that the change in muscle mass (p = 0.009) and skeletal muscle mass (p = 0.013) was statistically significantly higher for boys, and body fat (p = 0.013) for girls. In linear regression analysis, mother’s BMI emerged as a significant predictor for changes in high-density lipoprotein cholesterol (HDL-C) levels (p = 0.032, β = −0.691) during rGH therapy. Body composition changes did not differ by treatment indication. Conclusions: Gender may be associated with treatment-related changes in body composition during pediatric rGH therapy, while maternal BMI may predict HDL-C variation. rGH treatment appears to improve the sarcopenic index and has minimal and variable effects on the lipid profile. Full article

Hereditary tyrosinemia type 1 (HT1) is a rare metabolic disorder caused by fumarylacetoacetate hydrolase deficiency, leading to the accumulation of toxic metabolites such as fumarylacetoacetate (FAA) and succinylacetone (SA). We report an 11-year-old boy with poorly controlled HT1 who presented with a severe neurovisceral crisis after suboptimal adherence to nitisinone (NTBC) therapy, characterized by abdominal pain, hypertension, paralytic ileus, seizures, and profound hyponatremia. Biochemical evaluation revealed markedly elevated urinary δ-aminolevulinic acid (ALA), consistent with a porphyria-like metabolic decompensation, together with inappropriately increased plasma copeptin in the setting of hypotonic hyponatremia and clinical euvolemia, fulfilling diagnostic criteria for the syndrome of inappropriate antidiuretic hormone secretion (SIADH). Optimization of NTBC therapy combined with tailored fluid management resulted in complete clinical and biochemical recovery. This case supports a pathophysiological link between acute disruption of the heme–porphyrin pathway and inappropriate antidiuretic hormone secretion. In HT1, this susceptibility may be further amplified by FAA- and SA-mediated oxidative stress, mitochondrial dysfunction, and heme depletion, with an additional contribution from SA-associated renal tubular impairment. Overall, our findings underscore SIADH as a potentially underrecognized cause of acute hyponatremia in HT1 and highlight the importance of strict NTBC adherence and early monitoring of urinary ALA during metabolic decompensation. Full article

Background and Objectives: Atopic dermatitis (AD) is a prevalent, chronic, relapsing itchy skin disorder, affecting up to 20% of the pediatric population. Topical corticosteroids are the cornerstone of AD treatment, but their use is often limited due to topical corticosteroid phobia among parents. Research on chronic illnesses highlights the significant role of personality traits in treatment adherence, with emotional stability and conscientiousness—within the framework of the Five-Factor Model—emerging as key predictors. The aim of our study was to examine the relationship between parental personality traits and their adherence to the treatment of their children with AD. Materials and Methods: A cross-sectional study was conducted at the Department of Dermatovenereology, University Hospital of Split, involving 90 parents of children diagnosed with AD. Personality traits were evaluated using the abbreviated version of the International Personality Item Pool Big-Five Personality Questionnaire (IPIP 50s). Treatment adherence was assessed through a valid and reliable questionnaire, the Morisky Medication Adherence Scale (MMAS-8). Statistical analyses were performed using JASP v.0.18.1.0. Results: According to MMAS-8, only a small proportion of the sample reported having high adherence (14.4%). The only significant associations between personality traits and adherence were found between conscientiousness and adherence and emotional stability and adherence, where more conscientious participants and more emotionally stable participants reported higher scores. Conclusions: The results suggest that parents of children with AD with higher scores on conscientiousness and emotional stability are more likely to demonstrate better treatment adherence. These insights may encourage a holistic and multidisciplinary approach to the treatment of children with AD, with an emphasis on providing psychological support to both the children and their parents in order to improve treatment adherence and the further clinical course of the disease. Full article

Background: Acute Respiratory Infections are a common reason for Pediatric Emergency Department (PED) visits. Differentiating bacterial and viral infections may be challenging and might result in incorrect antibiotic prescriptions and exacerbation of antimicrobial resistance. This study evaluated the impact of new diagnostic tests in PED. Methods: A retrospective cohort of 4882 acute febrile respiratory infection cases presenting to the PED was analyzed, comparing two periods: Period 1 (October 2016–March 2017, n = 2181) and Period 2 (October 2023–March 2024, n = 2701). During Period 1, Group A Streptococcus and Respiratory Syncytial Virus rapid antigen detection tests were available. During Period 2, new point-of-care tests (POCTs), including rapid C-reactive protein and rapid antigen detection for Influenza A, Influenza B, and SARS-CoV-2, and a multiplex PCR nasal swab, were introduced. Results: In Period 2, antibiotic prescriptions decreased by 28.4%, along with a reduction in broad-spectrum antibiotic use. A significant correlation was observed between reduced antibiotic prescription and the use of new POCTs and multiplex PCR tests. Performance of blood tests and chest radiographs also decreased. Conclusions: Implementing novel diagnostic tests in PED helps clinicians select more appropriate management options with an impact on reduced stress and radiation exposure and antibiotic prescription. Full article

While many paediatric patients have a penicillin allergy label, most do not have a true allergy. The penicillin allergy label is associated with a lifetime risk of avoidable use of broad-spectrum antibiotics, higher healthcare costs, and poorer clinical outcomes. In this review, we present different types of penicillin allergies, de-labelling approaches, and significance on paediatric patients. We also discuss parental perspectives regarding penicillin de-labelling in the emergency setting. We highlight that despite the challenges posed by barriers such as overcrowding and the need for quick patient turnover in the PED, the availability of resources and expertise in managing potential allergic reactions makes the PED an ideal environment where PCN de-labelling can be both feasible and effective. We show that further education of both parents and healthcare professionals is essential to overcoming misconceptions, alleviating safety concerns, fostering trust in the de-labelling process, and normalising de-labelling in the PED. Full article

Background: Pediatric patients with beta-thalassemia (BT) face unique immunologic challenges due to chronic transfusions and viral exposure. Hepatitis C virus (HCV), a common infection in polytransfused individuals, may influence immune polarization. However, the combined effect of chronic HCV and host immunogenetics on allergic sensitization remains incompletely understood. Objective: To assess total serum IgE levels and allergic manifestations in HCV-positive vs. HCV-negative BT patients, and explore associations with common polymorphisms in IL10, TLR7, IL4, and IFNG genes Methods: This cross-sectional observational study enrolled 46 BT patients (37 HCV-positive, 9 HCV-negative) and 50 healthy controls. Clinical allergy history, total IgE levels (ELISA), and skin prick tests (SPT) for aeroallergens were collected. Genotyping for IL10 −1082, TLR7 rs179008, IL4 −589, and IFNG +874 polymorphisms was performed. Associations between genotypes, HCV status, and IgE levels were analyzed descriptively due to small sample size Results: HCV-positive BT patients had lower mean IgE levels (18.73 ± 4.2 IU/mL) and fewer reported allergic symptoms (21.6%) compared to HCV-negative counterparts (118.76 ± 7.9 IU/mL; 55.5%). The IL10 −1082 AA and TLR7 rs179008 TT genotypes were more common in the HCV-positive group and were associated with lower IgE levels. No associations were noted for IL4 or IFNG variants. Splenectomy appeared to further modify IgE levels in HCV-negative patients. Due to limited power and absence of multivariate analysis, findings are exploratory. These preliminary observations may inform future studies of immune deviation in chronically infected pediatric cohorts. Conclusions: Chronic HCV infection may contribute to immune tolerance and reduced allergic expression in BT patients, potentially modulated by IL10 and TLR7 genotypes. Further studies with functional immune profiling and larger cohorts are required. Full article

Background: Diabetic ketoacidosis (DKA) is a serious acute complication of diabetes mellitus (DM) associated with significant morbidity, mortality, and healthcare burden worldwide. This study aimed to investigate population descriptors and clinical outcomes among adult and pediatric patients admitted with DKA at two tertiary medical centers in Riyadh, Saudi Arabia. Methods: We conducted a retrospective observational study that included adult and pediatric (≤15 years) patients admitted to emergency departments (EDs) and received care for DKA between 2018 and 2021. DKA severity was defined according to the American Diabetes Association (ADA) criteria, which rely on arterial/venous pH and serum bicarbonate (with anion gap supportive), as follows: mild (pH 7.25–7.30; HCO₃⁻ 15–18 mmol/L), moderate (pH 7.00–7.24; HCO₃⁻ 10–15 mmol/L), and severe (pH < 7.00; HCO₃⁻ < 10 mmol/L). Data were extracted from electronic medical records and analyzed descriptively. Results: A total of 373 patients were admitted to the EDs and received treatment for DKA throughout the study period. Adults constituted 71.6% (267/373), while children represented 28.4% (106/373) of the patients; the majority of adults (74.2%) had Type 1 DM (T1DM), while all pediatric patients had T1DM. More than half of the adult presentations met the criteria for severe DKA (55.8%; 149/267), whereas pediatric cases were most commonly moderate in severity (41.5%; 44/106). The most common precipitating factors across both age groups of patients with diabetes before the index DKA event were non-compliance with therapy and infection. Both groups demonstrated typical biochemical features of DKA, although pediatric patients presented with slightly lower bicarbonate and higher anion gaps (slightly greater metabolic acidosis) but with similar hydration status. Regarding patients’ outcomes, hyperkalemia was identified in 23.6% of adults and 24.5% of pediatric patients, while hypokalemia was documented in 20.2% of adults and 24.5% of pediatric patients, and adult patients experienced more acute kidney injuries than the other cohort (5.2% vs. 1.9%). In-hospital mortality was 0.8% (3/373) among all adults. Although pediatric patients experienced faster DKA resolution (median = 16.5 h; IQR, 11.7–25.8) compared to adult patients (23.7 h; 16.2–36.9), they had a longer hospital stay compared to adult patients, and a significant majority required ICU care (50.9%) at some point during their care. Conclusions: The increasing prevalence of DM in Saudi Arabia, especially among the youth, would lead to an increase in DKA burden unless effective preventive measures are taken. This study demonstrated that preventable causes, such as non-compliance with therapy and infection, were responsible for the high admission rates. Thus, comprehensive outpatient care can help strengthen care continuity and help decrease the burden on emergency and inpatient services. Full article

Background: Medical child abuse (MCA), previously known as Münchausen syndrome by proxy, involves the fabrication or induction of illness by caregivers—most commonly the mother—leading to unnecessary medical interventions and potential harm to the child. Methods: This retrospective study analyzed cases of suspected or confirmed MCA managed by the GAIA multidisciplinary team at Meyer Children’s Hospital, Florence, between 2010 and 2022. Cases were identified using Rosenberg diagnostic criteria and red flags outlined by the American Academy of Pediatrics (AAP) and the Royal College of Paediatrics and Child Health (RCPCH). Data were extracted from medical records and analyzed descriptively. Results: Among 816 cases of child maltreatment, 8 (0.99%) were identified as MCA. The median age of affected children was 5 years (range: 4–12 years), with a female predominance (6/8, 75%). All perpetrators were biological mothers (8/8, 100%). Children had a median of 23 emergency department visits (range: 4–44), with the most frequent presentations being fever (6/8, 75%), minor trauma (7/8, 87.5%), respiratory complaints (5/8, 62.5%), and gastrointestinal symptoms (4/8, 50%). According to Rosenberg criteria, 5 cases (62.5%) were classified as “possible diagnosis,” 1 (12.5%) as “definitive diagnosis,” 1 (12.5%) as “diagnosis by exclusion,” and 1 (12.5%) as “inconclusive.” Conclusions: Despite its low prevalence, MCA poses serious clinical and ethical challenges. Early detection requires thorough documentation, interdisciplinary collaboration, and improved access to shared medical records. The GAIA model offers a replicable framework for effective multidisciplinary management. Full article

Background/Objectives: Asthma exacerbations are among the most frequent causes of pediatric emergency department (ED) visits, with over 700,000 annual cases in the United States and a significant number in Europe. Children under five years of age are particularly vulnerable to hospitalization. Methods: As timely assessment of exacerbation severity in the ED is critical, this review synthetizes data about tools such as the Pediatric Respiratory Assessment Measure (PRAM) and the Asthma Severity Score (ASS) aid in evaluating clinical status based on respiratory rate, oxygen saturation, accessory muscle use, and response to treatment. We also analyzed the proper management following established guidelines from GINA, NAEPP and other articles. Results: First-line therapy includes oxygen supplementation, short-acting beta-agonists (SABAs) administered frequently during the first hour, and early systemic corticosteroids. In moderate to severe cases, ipratropium bromide is added. For refractory or life-threatening presentations, intravenous magnesium sulfate, epinephrine, or ventilatory support may be required. Discharge is appropriate when symptoms resolve, oxygen saturation remains >94% on room air, and the child demonstrates adequate inhaler use. Hospitalization is indicated in cases of persistent hypoxemia, poor response, feeding difficulties, or social concerns. Post-discharge care includes thorough caregiver education, medication access, and a personalized asthma action plan to reduce recurrence risk. Conclusions: The effective diagnosis, appropriate exacerbation treatment, monitoring of patients in the post-attack period, as well as successful preventive medication play a key role in the management of pediatric patients with asthma. Full article

Pediatric sepsis is a major cause of morbidity and mortality worldwide, with outcomes dependent on timely recognition and rigorous management. As clinical management of pediatric sepsis depends on early recognition and initial therapeutic steps, targeted educational materials for healthcare workers in these early phases of care are warranted. Findings of this review highlight and compare the role of traditional educational methods (e.g., lectures) to alternative teaching methods (e.g., use of virtual reality) in educating healthcare workers about pediatric sepsis. Overall, there is a gradual shift from traditional, teacher-centered, transmissive teaching methods to more collaborative, reflective, and learner-centered approaches. These pedagogical approaches, despite some potential limitations, offer opportunities to use technological enhancements and Artificial Intelligence (AI) to enhance teaching and learning across various methods. Full article

Background/Objectives: Elbow fractures are the most common injuries in children and are frequently evaluated with plain radiographs in the acute setting. As dedicated pediatric radiology services are not widely available, diagnosis of fractures could be delayed. Since 2023, ChatGPT-4 has offered image analysis capabilities, which has untapped potential for radiographic analysis. This study represents the first evaluation of ChatGPT-4o, a multimodal large language model, in interpreting pediatric elbow radiographs for fracture detection, thereby demonstrating its potential as a generalist AI tool distinct from domain-specific pediatric models. Methods: A curated set of 200 pediatric elbow radiographs (100 normal, 100 abnormal with at least one fracture site, 105 right elbow, and 95 left elbow radiographs) acquired between October 2023 and March 2024 at a tertiary pediatric hospital were analyzed in this case–control study. Each anonymized radiograph was evaluated by ChatGPT-4o via a standardized prompt. ChatGPT-4o’s prediction outputs (fracture vs. no fracture) were subsequently compared against verified radiology reports (ground-truth). Diagnostic performance metrics such as sensitivity, specificity, accuracy, positive predictive value (PPV), negative predictive value (NPV), and F1 score were calculated. Results: ChatGPT-4o achieved an overall accuracy of 85% in detecting elbow fractures on pediatric radiographs, with a sensitivity of 87% and specificity of 82%. PPVs and NPVs were 83% and 86%, respectively. The F1 score was 0.85. ChatGPT-4o correctly identified the fracture site in 68 (78%) of the 87 studies in which it had detected fractures accurately. Cohen’s kappa coefficient was 0.69, indicating substantial agreement with actual diagnoses. Conclusions: This study highlights the utility and potential applications of ChatGPT-4o as a valuable point-of-care tool in aiding the detection of pediatric elbow fractures in emergency settings, particularly where specialist access is limited. Full article

Background/Objectives: Research on the association of adverse social determinants of health (SDOH) with severe pediatric coronavirus disease (COVID-19) is limited. We examined associations between SDOH patterns and COVID-19 severity in children. Methods: We conducted a prospective, observational study of children (<18 years) with symptomatic SARS-CoV-2 infection evaluated in an urban pediatric emergency department (March 2021–April 2022) in Detroit, Michigan. Caregivers completed a 34-item survey based on the Healthy People 2030 framework. Severe disease was defined as the occurrence of respiratory/cardiac failure or death within four weeks of diagnosis. Continuous and categorical variables were described using medians and percentages, respectively. Associations between disease severity and risk factors were determined using chi-square tests. Association rule mining was used for feature selection, followed by multivariate logistic regression. Results: We analyzed data from 354 children [6–12 years: 31.1%, Female: 51.1%, Black: 59%, not Hispanic: 84.7%, public insurance: 77.1%, chronic condition: 27.4%]. Of the total, 113 children had severe disease. Most caregivers were 30–44 years old (53.1%), had less than a college degree (70.4%), and income < USD 50,000 (75.2%). Adverse SDOH reported included food/housing insecurity (24.6%), no support (64.7%), unmet childcare needs (35.9%), and lack of transportation (12.7%). After controlling for age, sex, medical history, income, and obesity, severe disease was associated with caregiver use of drugs/alcohol (OR:5.92, p < 0.001) and social discrimination/lack of support (OR: 1.74, p = 0.030). Conclusions: Two SDOH patterns (caregiver use of drugs/alcohol and social discrimination/lack of support) were associated with severe COVID-19. Further studies are needed to confirm findings and develop interventions. Full article

Emergency department (ED) overcrowding has become a critical public health issue worldwide, driven by increasing demand and limited healthcare resources. This study analyzes the spatio-temporal variability of ED visits at Royo Villanova Hospital (Zaragoza, Spain) from 2011 to 2024, integrating clinical, demographic, environmental, and socioeconomic data. Using geospatial tools and machine learning models (XGBoost with SHAP interpretation), we identify key patterns in ED demand across time and space. Results show that the hour of the day is the most influential variable across all diagnoses, while temperature, humidity, and air pollutants (NO₂, SO₂, O₃) significantly affect respiratory and injury-related visits. Spatial analysis reveals persistent high-demand clusters in specific health zones, with proximity to the hospital playing a major role. The COVID-19 pandemic caused structural shifts in demand, particularly in pediatric care. Our findings highlight the need for tailored, diagnosis-specific predictive models and support the use of geospatial and environmental data for proactive ED resource planning. This approach enhances the capacity of health systems to anticipate demand surges and allocate resources efficiently. Full article

Background: Pyridoxine-dependent epilepsy (PDE) is a rare disorder characterized by seizures resistant to conventional treatments but responsive to pyridoxine therapy. Typically caused by biallelic variants in ALDH7A1, PNPO, or PLPBP, a few patients present a similar clinical phenotype but without confirmed molecular diagnoses. We report a child with a 13-year PDE diagnosis and normal intellectual development, whose seizures recurred after pyridoxine withdrawal but resolved with reintroduction, despite unremarkable whole-exome sequencing results. Methods: Following negative results from WES, optical genome mapping (OGM) and whole-genome sequencing (WGS) were performed to highlight any potential structural variants involving known PDE-associated genes. Results: OGM and WGS revealed a recurrent 16p11.2 BP4-5 duplication, inherited from his healthy father, along with a de novo chromothripsis-type unbalanced t(1;18)(p22.3;q12.3), affecting several genes not currently associated with epilepsy (RIT2, PIK3C3, COL24A1, LRRC8D, DIPK1A, and DPYD), with RIT2 being a plausible candidate for the neurological phenotype due to its neuron-specific expression along with a likely reshuffling of topologically associating domains (TADs) involving SYT4, an epilepsy-candidate gene. Discussion: While the molecular data do not pinpoint a single gene or locus as the cause of seizures in this case, a key aspect of our patient’s phenotype is true pyridoxine dependence, rather than just pyridoxine responsiveness. We propose that the genomic complexity associated with the chromothriptic t(1;18) and the 16p11.2 BP4-5 duplication may create a unique metabolic environment in which pyridoxine-dependent pathways are disrupted through unconventional mechanisms. The preservation of cognitive function in our case has been observed in small groups of PDE patients, especially those diagnosed and treated early. This may indicate a distinct phenotypic subgroup that warrants further genetic investigation. Full article

Background: Go-karting has become an increasingly popular motorsport and leisure activity among children of all ages. However, go-karting is not without risks. The main purpose of this study was to assess the number of pediatric patients presenting at the emergency department of a level-I trauma center following a go-kart-related injury event over a nine-year period. Additionally, this study aimed to provide a comprehensive overview of patient characteristics, trauma mechanisms, injury types and use of safety devices. Methods: A retrospective single-center cohort study identified all patients that presented at the emergency department from January 2015 to December 2023. Data from the Dutch Nationwide Trauma Registry and medical files were assessed, descriptive statistics were conducted, and cohorts—defined by date—were compared: the first cohort from January 2015 to December 2021, and the second from January 2022 to December 2023, with December 2021 marking the moment when Max Verstappen became the first dutchman to win the Formula One World Driver’s Championship. Results: A total of 14 patients were identified, with an incidence rate of respectively 0.86 and 4.0 per year for the cohorts. In the total study population, 86% were male and the mean age was 12 years (range 4–17). Collision was the most common trauma mechanism with velocities even exceeding 70 km/h. Reported use of a helmet and seatbelt were respectively 64% and 29%. The mean Injury Severity Score (ISS) was 8.6 (±8.6). 57% of the patients encountered minor injuries (ISS ≤ 8), encompassing mostly soft tissue injuries, whereas truncal injuries occurred most frequently in moderately (ISS 9–15) and severely (ISS ≥ 16) injured children. Conclusions: This study has found that although the number of cases was relatively low, an increase in injuries was seen after 2021 in go-karting in children. Almost half of patients were seriously injured, requiring admission at the least. Resulting from this, considerations on minimum age for participation, enforcement of the use of safety devices including additional safety measures targeting truncal protection, and more clear laws and regulations are advised. Full article