Italian Journal of Pediatrics最新文献

Background: Fructose-1,6-bisphosphatase (FBP1) deficiency is a rare inherited disease characterized by recurrent episodes of lactic acidosis and ketotic hypoglycemia. To date, no cases have been reported in the Egyptian population. This study aimed to elucidate the phenotypic and molecular spectrum of FBP1 deficiency in Egypt.

Methods: This observational study included children with FBP1 deficiency diagnosed and managed at an Egyptian medical center between 2022 and 2024. Clinical and laboratory data of acute metabolic episodes were thoroughly reviewed. All patients underwent blood acylcarnitine assay, urinary organic acids analysis, and whole-exome sequencing. Patients' outcomes were classified into favorable, neurodevelopmental impairment, and death.

Results: This cohort included 14 Egyptian children (from 11 families) with FBP1 deficiency. The median age at disease onset was 13 months, ranging from the first week of life to 36 months. All patients exhibited acute lactic acidosis, and most (13/14) had hypoglycemia. Four FBP1 variants were identified: c.88G > T (p.Glu30Ter), c.652_661delinsTCACGAGGGCT (p.Arg218SerfsTer9), c.960delinsGG (p.Ser321ValfsTer13), and c.902_904del (Glu301del). The c.960delinsGG variant was detected in nine cases, suggesting a founder effect. The c.652_661delinsTCACGAGGGCT is a novel variant. One case had a coexisting partial biotinidase deficiency. Regarding outcome, two patients died during the neonatal period, while the remainder achieved normal neurodevelopment.

Conclusion: This is the first study of FBP1 deficiency in Egypt, which expands the demographic, clinical, and genetic spectrum of this rare disease.

Background: Group A Streptococcus causes pediatric infections from mild to severe forms. Since late 2022, invasive cases have increased in Europe, possibly due to reduced post-COVID-19 immunity, more respiratory virus circulation, and emergence of virulent strains.

Methods: A retrospective, multicenter observational study was conducted in twelve Italian pediatric Hospitals, including patients under 18 years hospitalized with invasive or severe Group A Streptococcus infection. Data were anonymized and analyzed to identify factors associated with Pediatric Intensive Care Unit (PICU) admission and discharge with sequelae or death.

Results: Seventy-five children with invasive or severe Group A Streptococcus infection were included; the majority (69.3%) were aged 2-10 years. Invasive Group A Streptococcus (iGAS) infection accounted for 58.7% (n = 44) and severe GAS (sGAS) infection for 41.3% (n = 31) of cases. Pediatric Intensive Care Unit admission was required in 45.3% (n = 34) of the entire patient cohort, in this subgroup viral coinfection (OR 5.684, p = 0.003), sepsis/septic shock (OR 4.406, p = 0.003), iGAS diagnosis (OR 4.153, p = 0.005), and procalcitonin (PCT) > 0.5 ng/mL (OR 7.105, p = 0.019) were independently associated with admission; the use of corticosteroids (OR 4.641, p = 0.003) and intravenous immunoglobulin (IVIG) (OR 16.667, p = 0.003) was also significantly more frequent. All patients received empirical β-lactam antibiotics; anti-toxin therapy was administered in 47 patients (62.7%): clindamycin (49.3%), linezolid (16.0%), and rifampicin (1.3%). Mechanical ventilation was required in 24.0% (n = 18), and 49.3% (n = 37) underwent surgery. Post-infectious sequelae occurred in 20.0% (n = 15) and four children died, mostly due to streptococcal toxic shock syndrome.

Conclusion: Pediatric invasive group A streptococcal infection continues to pose a significant clinical challenge, with notable rates of morbidity and mortality, underscoring the need for early recognition and close monitoring of high-risk patients. A widespread use of adjunctive therapies was documented. Continued surveillance and robust clinical research are essential to optimize management strategies and improve patient outcomes.

Over the past year, there have been several developments in various fields of pediatric medicine. This review features essential publications that have been published in the Italian Journal of Pediatrics in 2024. Papers have been selected in the areas of allergy, cardiology, critical care, endocrinology, gastroenterology, immunology, infectious diseases, neonatology, nephrology, neurology, nutrition, palliative care, respiratory tract illnesses, and social media. The findings have been examined to identify opportunities for improving the management of the diseases.

Background: In the last years the use of digital media devices (MD) among adolescents has increased exponentially, becoming a central component of daily life for many young. The aim of the present study is to explore the use of MD in adolescents affected by anorexia nervosa (AN), compared to healthy ones. Furthermore, we compared MD use between inpatient and outpatient adolescents with AN.

Methods: This single-center prospective study enrolled patients aged 9-18 years affected by AN and admitted at IRCCS Bambino Gesù Children's Hospital, Rome, Italy, between January 2024 and August 2024. Participants completed a questionnaire to explore their relationship with MD in terms of time of use, addiction, activities, parents' role, MD consequences and children perception. Results from AN patients were then compared to those of the general population cohort described in our previous paper.

Results: During the study period, 113 patients were enrolled. AN patients spent less time per day on screens compared to controls. In detail, the majority of AN adolescents (40.6%) spent between two and three hours per day on MD, while most of the control group (54%) spends more than three hours per day on screen (p < 0.001). Furthermore, both AN (69.9%) and control (56%) group primarily uses MD before going to bed. Finally, most of AN individual (43.6%) primarily uses devices for browsing social networks, showing a statistically significant difference compared to controls (24.0%, p = 0.044). Notably, children aged 9-14 years also largely use MD to access social networks (40.8%). AN outpatients statistically use MD for a prolonged time compared to AN inpatients.

Conclusion: AN patients spend less time per day on screens compared to the general population. This habit may find a possible explanation in a polarization of thinking about food. An alarming fact is the strong relationship of adolescents with MD even among the youngest - aged 9-14 years - and the difficulty in renouncing it for a limited period. In conclusion, we believe it is necessary to intensify controls in order to safeguard the mental health of children.

Background: Current guidelines for managing infections in pediatric patients with cancer do not recommend routine antibiotic prophylaxis (AP). However, several aspects of AP, including the role of diagnosis, the impact of neutropenia duration, screening for resistant bacterial colonization, and antibiotic stewardship, remain a matter of debate.

Methods: To address these issues, a panel of experts from the Italian Association of Pediatric Hematology and Oncology (AIEOP) and the Italian Society of Pediatric Infectious Diseases (SITIP) conducted a Delphi consensus. A comprehensive literature review and a national survey of pediatric oncology centers identified clinically relevant topics that are not fully covered by current guidelines. Based on this, the expert panel developed and voted on 14 statements covering eight key areas: the role of diagnosis, duration of neutropenia, screening for colonization with antibiotic resistant bacteria, use of validated risk scores, implementation of antimicrobial stewardship programs, periodic monitoring of local epidemiology, choice of antibiotic for prophylaxis, and the risk of resistance following prophylaxis.

Results: The panel reached a consensus against prophylaxis in patients receiving monoclonal antibody therapy and advised against using the duration of neutropenia alone as a criterion to initiate prophylaxis, recommending it only for severe neutropenia (< 500/mm³). They also emphasized the importance of screening for multidrug resistant bacteria and implementing antimicrobial stewardship supported by specialist consultation.

Conclusions: These recommendations provide guidance for clinicians on the selective use of AP, supporting informed decision making while ensuring appropriate treatment and reducing the emergence of multidrug resistant bacterial infections.

Background: Infection is a common complication of idiopathic nephrotic syndrome (INS), and early identification of severe infection can improve patient outcome.

Methods: This multicenter retrospective study developed and validated machine learning (ML) models that predict severe infection in children with INS. The derivation cohort (n = 2357) consisted of INS patients at one institution, and was separated into a training set and testing set. The external validation set (n = 372) consisted of INS patients from three other hospitals. Data were collected for 41 variables, and ten of them were then selected by univariate analysis and Least Absolute Shrinkage and Selection Operator (LASSO) regression. Ten ML models were compared, and the best one was identified using receiver operating characteristic (ROC) analysis and other methods.

Results: The incidence rate of severe infection was 6.8% in the derivation cohort. The Light Gradient Boosting Machine (LightGBM) model had the best predictive performance (accuracy: 0.843, precision: 0.843, recall: 0.842, F1: 0.843, sensitivity: 0.842, specificity: 0.844, AUROC:0.912, AUPRC:0.915). The ten predictors were C-reactive protein, hemoglobin, white blood cells, activated partial thromboplastin time, creatinine, high-density lipoprotein, corrected serum calcium, complement 3, and number of immunosuppressants, and incidence of SRNS. This model had an AUROC of 0.979 and AUPRC of 0.842 in the external validation cohort.

Conclusion: A LightGBM model for predicting severe infection in patients with INS had excellent performance. Future applications of this model may provide an effective, convenient, and cost-effective approach for early identification of severe infection in children with INS.

Background: Metabolic-associated fatty liver disease (MAFLD) has emerged as a critical pediatric health concern, particularly among children with obesity. However, its diagnosis poses substantial challenges, especially in the use of non-invasive methods. Our goal was to construct an online nomogram for screening MAFLD in obese children.

Methods: We designed a retrospective cross-sectional study involving 2,512 obese children. Detailed anthropometric data and laboratory parameters were collected. The study dataset was randomly allocated into training (n = 1758) and validation (n = 754) sets at a 7:3 ratio. To identify MAFLD risk factors, we conducted logistic regression analyses, from which a web-based predictive nomogram was constructed. Using receiver operating characteristic (ROC) curves and area under the curve (AUC), the nomogram's performance was assessed and contrasted with the triglyceride glucose (TyG) index, Zhejiang University (ZJU) index, and Korean NAFLD (K-NAFLD) score. The goodness-of-fit of the nomogram was evaluated using calibration plots, and the nomogram's clinical value was assessed using decision curve analysis (DCA).

Results: A total of 1,344 participants (53.50%) were diagnosed with MAFLD by ultrasound. Age, gender, BMI Z-score, waist circumference (WC), homeostatic model assessment of insulin resistance (HOMA-IR), and alanine aminotransferase (ALT) were identified as independent factors influencing MAFLD in obese children. These six variables were selected for the construction of the nomogram. ROC analysis revealed that the nomogram had superior diagnostic performance for MAFLD detection compared to the other three models, with AUC values of 0.874 (95% confidence interval [CI]: 0.858-0.890) in the training set and 0.870 (95% CI: 0.845-0.895) in the validation set. Calibration plots indicated a good fit of the nomogram in both datasets. Furthermore, DCA demonstrated its strong clinical applicability.

Conclusions: This study developed an online nomogram that demonstrates robust diagnostic accuracy and clinical utility for assessing obese children's MAFLD risk.