Italian Journal of Pediatrics最新文献

Background: Advances in neonatal medicine have improved survival rates in neonatal intensive care units, especially for high-complexity cases like congenital diaphragmatic hernia (CDH). Despite these advances, managing respiratory failure in CDH infants remains challenging due to lung hypoplasia, respiratory insufficiency, and pulmonary hypertension. Lung-protective ventilation strategies are crucial to minimize ventilator-induced lung injury, but weaning them from invasive mechanical ventilation remains complex, and extubation failure rates are high.

Case presentation: This retrospective case series describes the use of Flow-Synchronized Nasal Intermittent Positive Pressure Ventilation (sNIPPV) in four neonates with surgically corrected left CDH admitted to the "Bambino Gesù" Children's Hospital in Rome (Italy) from 2022 onwards. Flow-sNIPPV was administered using the Giulia^® ventilator, which features a flow sensor for synchronization. We observed improved outcomes in terms of extubation success, in comparison to non-synchronized Nasal Intermittent Positive Pressure Ventilation (NIPPV). Synchronization reduced work of breathing (WOB), improved lung ventilation, and enhanced gas exchange without increasing ventilation-related complications. Additionally, this study reviews the current literature on the use of sNIPPV in neonates, highlighting the need for more research on its role in weaning post-extubation in CDH infants.

Conclusions: Flow-sNIPPV shows promise in preventing extubation failure in neonates with CDH by improving ventilation and reducing WOB. Synchronization enhances lung ventilation, stabilizes the chest wall, and may reduce thoraco-abdominal asynchrony in CDH infants. While the findings are promising, larger multicenter studies are required to confirm the efficacy and safety of sNIPPV as a routine weaning strategy in CDH neonates after repair surgery.

Background: Healive is an inactivated vaccine for hepatitis A virus developed in China and was found to be well-tolerated and highly immunogenic in adults and children. It is our aim this study to compare the safety and immunogenicity of Healive® with Havrix® and live attenuated vaccines in pediatric populations.

Methods: A systematic search of PubMed, Scopus, Web of Science, and Embase databases was conducted following PRISMA guidelines. Randomized controlled trials (RCTs) comparing Healive with other vaccines were included.

Results: Seven RCTs involving 3664 patients were included. Healive showed comparable efficacy to Havrix regarding seroconversion rates and GMT at one month (SMD = 0.24, 95% CI [-0.11 to 0.59]), but achieved better results at six (SMD = 0.85, 95% CI [0.57 to 1.07]) and seven months (SMD = 0.55, 95% CI [0.41 to 0.70]). When compared to live attenuated vaccines, Healive demonstrated superior GMT at one month (SMD = 0.31, 95% CI [0.07 to 0.56]) and two years (SMD = 0.36, 95% CI [0.06 to 0.67]).

Conclusion: Healive appears to be effective and safe for preventing hepatitis A, providing at least five years of protection. This review underscores the importance of ongoing research to optimize hepatitis A vaccination strategies, including standardized assays for antigen content, clarification of protective antibody levels, and large-scale trials in regions of intermediate endemicity.

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.