Ital J Pediatr [JOURNAL]
Sun
200 papers
Hypoglossal nerve palsy in infectious mononucleosis and Fusobacterium necrophorum tonsillitis: a case report and literature review.
Scannapiecoro S, Indolfi G, Temperino V … +1 more , Trapani S
Ital J Pediatr · 2025 Oct · PMID 41053845 · Full text
BACKGROUND: Hypoglossal nerve palsy (HNP), although rare, can result from various causes and more commonly in children is secondary to infectious etiologies. Its optimal management requires accurate diagnosis and exclusi...
BACKGROUND: Hypoglossal nerve palsy (HNP), although rare, can result from various causes and more commonly in children is secondary to infectious etiologies. Its optimal management requires accurate diagnosis and exclusion of severe complications like Lemierre's syndrome, vascular events, tumors, or demyelination/inflammatory processes). CASE PRESENTATION: A previously healthy 16-year-old boy was diagnosed with HNP, infectious mononucleosis and Fusobacterium necrophorum tonsillitis. The patient presented with fever, neck swelling, and swallowing difficulty, accompanied by left-side tongue deviation. Prompt treatment with clindamycin and prednisone led to rapid improvement of symptoms (within 5 days) and complete recovery after 4 weeks. CONCLUSIONS: This case highlights the importance of considering uncommon neurological complications in patients with common diseases. An extensive literature review on HNP in childhood was conducted, summarizing the diverse etiologies, clinical presentations, diagnostic tests, and treatment approaches.
Hemophagocytic Lymphohistiocytosis-like syndrome following rotavirus infection in a pediatric patient with severe pneumonia: a case report and literature review.
Lin Q, Meng F, Li C … +2 more , Wang H, Li Y
Ital J Pediatr · 2025 Oct · PMID 41053840 · Full text
BACKGROUND: Hemophagocytic syndrome (HPS), also known as hemophagocytic lymphohistiocytosis (HLH), is characterized by persistent fever, cytopenias, hepatosplenomegaly, and elevation of typical HLH biomarkers, often asso...
BACKGROUND: Hemophagocytic syndrome (HPS), also known as hemophagocytic lymphohistiocytosis (HLH), is characterized by persistent fever, cytopenias, hepatosplenomegaly, and elevation of typical HLH biomarkers, often associated with a high mortality rate. Secondary HLH is frequently triggered by infections, with viral HLH being the most common infectious etiology in children. Although various viruses have been implicated in the induction of HLH, reports of HLH triggered by rotavirus infection are scarce, primarily occurring in post-transplantation immunosuppressed patients. The condition has a poor prognosis and is associated with a high mortality rate. CASE PRESENTATION: This study presents a case of a 4-year-old boy, previously healthy and not in an immunosuppressed state, who developed HLH symptoms following rotavirus infection. Genetic testing revealed no HLH-related mutations. Initially, the patient presented with severe pneumonia and a suspected lung abscess. After receiving anti-infective treatment, the pneumonia improved. During the stable recovery phase, the child developed vomiting, diarrhea, and recurrent fever. Stool tests were positive for human rotavirus antigen. Despite symptomatic treatment, the fever persisted and worsened, accompanied by abdominal pain, rash, neutropenia, hyperferritinemia, hypofibrinogenemia, hypertriglyceridemia, and liver dysfunction. Bone marrow biopsy revealed phagocytic activity, leading to a strong clinical suspicion of HLH. The patient was subsequently treated with corticosteroids and supportive therapy. The child responded rapidly, with symptom resolution, normalization of inflammatory and hematologic markers, and a favorable outcome. CONCLUSION: This case highlights a rare but critical presentation of hemophagocytic syndrome-like symptoms triggered by rotavirus infection in a non-immunocompromised child. Given the high mortality associated with HLH, especially when triggered by common viral infections, clinicians should maintain a high index of suspicion and initiate early intervention when compatible symptoms arise.
Will artificial intelligence improve residents' quality of life without compromising healthcare quality? A pediatric point-of-view.
Corsello A, Pegoraro F, Spatuzzo M … +1 more , Santangelo A
Ital J Pediatr · 2025 Oct · PMID 41035039 · Full text
BACKGROUND: The integration of artificial intelligence (AI) and advanced large language models in medical education and clinical practice is reshaping healthcare. These technologies have significant potential to enhance...
BACKGROUND: The integration of artificial intelligence (AI) and advanced large language models in medical education and clinical practice is reshaping healthcare. These technologies have significant potential to enhance training experience and quality of life for medical residents. By automating routine tasks such as documentation and preliminary data analysis, AI-driven models can significantly reduce the workload, enabling residents to focus more on direct patient care and hands-on learning opportunities. MAIN BODY: AI-driven support in diagnostics and decision-making may also reduce diagnostic errors, fostering a safer and more efficient healthcare environment. Furthermore, by alleviating administrative burdens, AI could play a critical role in mitigating resident burnout, contributing to a more resilient healthcare workforce and ultimately improving the continuity and quality of patient care. However, the adoption of AI in medical practice poses challenges. Automation risks reducing essential clinical skills, and over-reliance on AI may impact on professional autonomy and the development of diagnostic capacities. Concerns also persist regarding biased data, data security, legal issues, and the transparency in AI-driven decision-making processes. CONCLUSION: Addressing these challenges requires collaboration among healthcare professionals, AI developers and policymakers, as well as ethical frameworks and country-specific regulations. Only through a balanced and collaborative approach can we unlock AI's full potential to create a more efficient, equitable, and patient-centered healthcare system.
(Epi)genotype-phenotype correlations of Beckwith-Wiedemann syndrome in China.
Lan D, Zhang S, Li J … +2 more , Wang Y, Dong C
Ital J Pediatr · 2025 Sep · PMID 41024278 · Full text
BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is a rare congenital overgrowth disorder characterized by various clinical features and (epi)genetic defects. The study aims to elaborate on the clinical features, (epi)genet...
BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is a rare congenital overgrowth disorder characterized by various clinical features and (epi)genetic defects. The study aims to elaborate on the clinical features, (epi)genetic errors, and (epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome (BWS) in the past ten years. METHODS: A retrospective study was designed on patients with BWS from July 2013 to October 2022 from Children's Hospital of Fudan University. Clinical data, including demographics, clinical features, and molecular testing results, were collected, and the (epi)genotype-phenotype correlations were systematically analyzed. The clinical diagnosis standard and scoring were referred to the international experts' consensus (2018 version). Patients suspected or clinically diagnosed with BWS underwent MS-MLPA testing for (epi)genotyping. RESULTS: 242 BWS patients (119 males and 123 females) aged from 0 to 69 months were in the study. The most common clinical features were macroglossia (96.3%), followed by lateralized overgrowth (63.6%) and ear creases/pits (50.4%). Two hepatoblastomas and one Wilms tumor were found in the cohort. The average BWS clinical score was 5.74 ± 1.73 points. The (epi)genotyping results identified the three most common (epi)genetics errors: IC2 LOM, pUPD11, and IC1 GOM accounted for 52.3%, 19.2%, and 9.3%, respectively, of all patients who underwent MS-MLPA testing. A characteristic pattern was found in the three different molecular groups. Macroglossia, exomphalos, and facial naevus simplex were more common in IC2 LOM than in IC1 GOM and pUPD11 (p < 0.05). Lateralized overgrowth was more common in pUPD11 than in IC2 LOM and IC1 GOM group (p < 0.001). Nephromegaly or hepatomegaly was more common in IC1 GOM than in IC2 LOM and pUPD11 (p < 0.001). CONCLUSION: The (epi)genotype-phenotype correlations delineate different phenotypic profiles. Molecular testing and standardization of BWS diagnostic procedures are of great significance for the early diagnosis and surveillance of BWS.
The relationship among NICU stressors and irritable bowel syndrome in parents during their infant stay: the mediating role of anxiety.
Lambiase CV, Guiso M, Pesce M … +4 more , Vendemmia M, Capasso L, Sarnelli G, Raimondi F
Ital J Pediatr · 2025 Sep · PMID 41024251 · Full text
BACKGROUND: An infant requiring admission to the Neonatal Intensive Care Unit (NICU) is frequently associated with parental stress and anxiety. Irritable bowel syndrome (IBS) represents one of the most common disorders o...
BACKGROUND: An infant requiring admission to the Neonatal Intensive Care Unit (NICU) is frequently associated with parental stress and anxiety. Irritable bowel syndrome (IBS) represents one of the most common disorders of gut-brain interaction in adult population. The primary objective of this study was to evaluate IBS symptoms in mothers and fathers of NICU infants during hospitalization. Secondary objective was to explore the relationship among NICU stressors, anxiety and IBS symptoms. METHODS: Cross-sectional study. Eighty parents (mothers = 44, fathers = 36) of NICU hospitalized infants filled out validated questionnaires on IBS symptoms, anxiety and NICU stressors (i.e., Sights and Sounds, Infant's Look and Behaviour, Parental Role Alterations). Student's t test and Chi-square test were used to compare maternal and paternal IBS symptoms, prevalence and severity. The mediating effect of anxiety among NICU stressors and IBS was tested using mediation analysis. RESULTS: Mothers scored above the clinical cut-off for IBS more frequently than fathers (59.1% vs. 44.6%). Symptoms were significantly higher in mothers as compared to fathers (p = .021). Anxiety fully mediated the effect of Sights and Sounds (β = 0.147, SE = 0.058, 95% CI: [ 0.046, 0.277]), Infant Look and Behaviour (β = 0.117, SE = 0.049, 95% CI: [0.024, 0.215]) and Parental Role Alterations (β = 0.132, SE = 0.050, 95% CI: [0.044, 0.241]) on IBS symptoms. CONCLUSIONS: Our study demonstrated for the first time that parents of NICU infants experience IBS symptoms during hospitalization and distinguished the somatic experience among mothers and fathers during their infant NICU stay. Parental experience of NICU hospitalization deserve to be studied as a potential stressful life event implying both psychological and somatic distress. Integrating tailored stress-reduction interventions sensitive to gender differences into Family Centered-Care practices is essential to reduce parental distress and support parental involvement during NICU hospitalization.
Congenital hypothyroidism in two children affected by Sotos syndrome: a simple association?
Cavarzere P, Munari S, Arrigoni M … +5 more , Raitano V, Fiorini E, Guzzo A, Gaudino R, Antoniazzi F
Ital J Pediatr · 2025 Sep · PMID 41024235 · Full text
BACKGROUND: Congenital hypothyroidism (CH) is the most common congenital endocrine disorder and one of the most preventable causes of intellectual disability. The underlying etiology of CH can be thyroid dysgenesis or dy...
BACKGROUND: Congenital hypothyroidism (CH) is the most common congenital endocrine disorder and one of the most preventable causes of intellectual disability. The underlying etiology of CH can be thyroid dysgenesis or dyshormonogenesis, and in rare cases, CH can occur as part of a genetic syndrome. Sotos syndrome is a rare overgrowth disorder caused by pathogenic variants in the NSD1 gene, characterized by excessive growth in infancy, distinctive facial features, and developmental delay. CASE PRESENTATION: We describe two unrelated children with permanent CH and genetically confirmed Sotos syndrome. Both children were referred to our Pediatric Endocrinology Centre due to abnormal thyroid-stimulating hormone (TSH) values detected through neonatal screening. A permanent CH was confirmed in both cases: one patient had thyroid hypoplasia with the presence of only the right thyroidal lobe; the other one had an in-situ thyroid gland. The diagnosis of Sotos syndrome was made later in infancy. In the first case, auxological parameters at birth were within normal ranges and overgrowth became apparent after six months of age; in the second case, overgrowth was already manifest at birth, but the diagnosis was guided primarily by the neurodevelopmental delay. CONCLUSION: We describe two cases in which CH occurred with Sotos syndrome, and we hypothesize that this association may not be coincidental. To our knowledge, these are among the few reported cases of genetically confirmed Sotos syndrome associated with permanent congenital hypothyroidism. Further studies are needed to determine whether CH is a clinical feature of Sotos syndrome or an unrelated finding. We recommend early thyroid function testing in patients with Sotos syndrome and suggest suspecting Sotos syndrome in children presenting with CH, cognitive delay and overgrowth or additional congenital anomalies.
Eosinophilic gastroduodenitis: a pediatric perspective.
Caminiti L, Arasi S, Barni S … +11 more , Castagnoli R, Gelsomino M, Giovannini M, Klain A, Liotti L, Mastrorilli C, Mori F, Pecoraro L, Saretta F, Del Giudice MM, Novembre E
Ital J Pediatr · 2025 Sep · PMID 41024233 · Full text
Eosinophilic gastroduodenitis (EoGD) is a group of chronic inflammatory disorders characterized by an increased presence of eosinophils in the stomach and duodenum. Although relatively rare, it is an increasingly recogni...
Eosinophilic gastroduodenitis (EoGD) is a group of chronic inflammatory disorders characterized by an increased presence of eosinophils in the stomach and duodenum. Although relatively rare, it is an increasingly recognized form of eosinophilic gastrointestinal diseases (EGIDs) with significant clinical implications, particularly in pediatric patients. Despite advancements in diagnostic tools, considerable delays in diagnosis persist due to the nonspecific nature of clinical manifestations, which often resemble more common gastrointestinal disorders. Early referral to a gastroenterologist is critical, especially when patients present with persistent gastrointestinal signs and symptoms that do not improve with treatment for common conditions like irritable bowel syndrome. Food allergens and microbiota may play a role in the pathogenesis of this disease. Management typically involves a combination of dietary modifications, pharmacological treatments such as corticosteroids, and, in some cases, biologic agents targeting eosinophilic inflammation. However, long-term outcomes remain variable, and data on prognosis are still limited, underscoring the need for further research. Future studies should focus on validating new diagnostic markers and therapeutic strategies, better understanding long-term outcomes, and developing personalized treatment plans. A multidisciplinary approach, incorporating the expertise of gastroenterologists, allergists, dietitians, and surgeons, is crucial to ensure optimal patient care and management.
Clinical characteristics and outcomes of Kawasaki disease and multisystem inflammatory syndrome in Arab children during the COVID-19 pandemic: a single-center experience from the middle East.
Sedky Y, Wannes S, Saleh SA … +5 more , Algaleel SAA, Farag Y, Toraih E, Aiash H, Gamal GM
Ital J Pediatr · 2025 Sep · PMID 41024101 · Full text
BACKGROUND: The emergence of Multisystem Inflammatory Syndrome in Children (MIS-C) during the COVID-19 pandemic has posed new challenges in differentiating it from classical Kawasaki disease (KD). Understanding their dis...
BACKGROUND: The emergence of Multisystem Inflammatory Syndrome in Children (MIS-C) during the COVID-19 pandemic has posed new challenges in differentiating it from classical Kawasaki disease (KD). Understanding their distinct presentations and outcomes is crucial for appropriate management strategies. We aimed to characterize and compare the clinical presentations, laboratory findings, cardiac manifestations, and treatment outcomes of KD and MIS-C in pediatric patients during the COVID-19 pandemic at a tertiary care center in Saudi Arabia. METHODS: In this retrospective cohort study, we analyzed data from 41 pediatric patients (ages 0-14 years) diagnosed with either KD (n = 31) or MIS-C (n = 10) between January 2020 and December 2023. Diagnoses were established using the American Heart Association criteria for KD and World Health Organization criteria for MIS-C. Clinical features, laboratory parameters, cardiac findings, and treatment responses were compared between groups. RESULTS: Among the 41 patients (median age 5.6 years, 56.1% male), KD patients demonstrated significantly higher rates of conjunctivitis (64.5% vs. 0%, p < 0.001) and rash (80.6% vs. 40%, p = 0.014) compared to MIS-C patients. Laboratory findings showed distinct patterns: KD patients had higher ESR (92.9 ± 50.7 vs. 58.4 ± 28.6 mm/hr, p = 0.042) and albumin levels (3.4 ± 0.4 vs. 3.1 ± 0.3 g/dL, p = 0.026), while MIS-C patients exhibited higher ferritin (1907 ± 3602 vs. 239 ± 397 ng/mL, p = 0.05), AST (398 ± 554.7 vs. 39.03 ± 23.8 U/L, p = 0.013), and LDH levels (973 ± 991.1 vs. 297.0 ± 96.6 U/L, p = 0.006). Coronary artery abnormalities were more frequent in KD (35.5% vs. 10% for diameter > 2 mm), with one case developing a coronary aneurysm. One mortality occurred in the MIS-C group due to sepsis. CONCLUSIONS: This study identifies distinct clinical and laboratory profiles between KD and MIS-C during the COVID-19 pandemic. While both conditions can affect the coronary arteries, our findings suggest potentially different pathophysiological mechanisms. These observations may help inform diagnostic approaches and treatment strategies, though larger multicenter studies are needed to validate these findings.
Do mindful eating intervention programs improve mindful eating and nutritional status in children?
Kocaadam-Bozkurt B, Koksal E
Ital J Pediatr · 2025 Sep · PMID 41024085 · Full text
BACKGROUND: The study aimed to evaluate the changes in mindful eating scores, anthropometric measurements, and dietary adequacy in children after the Mindful Eating Intervention Program for Children and Parents (MEIP-CP)...
BACKGROUND: The study aimed to evaluate the changes in mindful eating scores, anthropometric measurements, and dietary adequacy in children after the Mindful Eating Intervention Program for Children and Parents (MEIP-CP). METHODS: This study was conducted as a quasi-experimental design with a pre-test and post-test pattern. The research sample comprised 64 children (48.4% boys, 51.6% girls) aged 8-11 years and their parents. The MEIP-CP includes six sessions (preventing mindless eating, exploring the senses, recognizing hunger and fullness signals, expressing emotions, sowing the seeds of awareness, and cultural meal invitation) of 45-60 min/per week. Data was obtained using questionnaire with face-to-face interviews at the pre-test (baseline), post-test (week 6 and week 12). The survey form included the socio-demographics information, the Mindful Eating Questionnaire for Children (MEQ-C), the Emotional Eating Scale for Children and Adolescents (EES-C), anthropometric measurements, and a 24-hour dietary recall. The nutrient adequacy ratio (NAR) and mean adequacy ratio (MAR) were used to evaluate children's diets. RESULTS: The Mindless eating scores of children decreased, and Awareness scores increased at post-test evaluation (p < 0.05). No significant difference was found in the anthropometric measurements of both boys and girls during the study (p > 0.05). Following the MEIP-CP, there was a trend toward decreased EES-C subscales scores. The rate of those who were in the "good" group (> 80%) in terms of MAR rating baseline (46.9%) increased to 70.3% in the sixth week. While gender, the EES-C score, and Body Mass Index were associated with the Mindless eating score, age, the MAR rating, and the EES-C scores were associated with the Awareness score in regression models (p < 0.05). CONCLUSIONS: The MEIP-CP may contribute to increasing mindful eating and dietary adequacy in addition to reducing emotional state-related behaviours in children.
Continuous renal replacement therapy in neonates with multiple organ dysfunction syndrome: clinical utilization effects and outcomes.
Chu X, Xu J, Sun Y … +3 more , Gong X, Chen D, Cai C
Ital J Pediatr · 2025 Sep · PMID 41023706 · Full text
BACKGROUND: The use of continuous renal replacement therapy (CRRT) has expanded from children to neonates. In addition to acute kidney injury (AKI), it is also used in critically ill neonates with hyperammonemia, sepsis,...
BACKGROUND: The use of continuous renal replacement therapy (CRRT) has expanded from children to neonates. In addition to acute kidney injury (AKI), it is also used in critically ill neonates with hyperammonemia, sepsis, and multiple organ dysfunction syndromes (MODS). METHODS: We retrospectively analyzed clinical data of 52 neonates with MODS treated with CRRT at two tertiary hospitals. Hemodynamic parameters, hepatic and renal function were recorded before CRRT, 12, 24 h after CRRT initiation, and at the end of CRRT, respectively. Further analysis of mortality factors in neonates with MODS treated with CRRT was performed. RESULTS: (1) The most common primary diseases of 52 critically ill neonates with MODS were neonatal asphyxia, neonatal sepsis and inborn errors of metabolism (IEM). The median number of organs involved was 4.0 (3.0, 5.0), with the respiratory system, cardiovascular system and kidneys being the most commonly involved organs. (2) Compared to pre-CRRT, the mean arterial pressure (MAP), lactate, serum creatinine (SCr), blood urea nitrogen (BUN), and urine output of neonates with MODS were significantly improved at 12 h of CRRT. Vasoactive inotropic score (VIS) and pH improved significantly at 24 h of CRRT. (3) The overall mortality rate of 52 critically ill neonates with MODS was 38.5%. Risk factors associated with death included primary disease, number of organs involved, the neonatal critical illness score (NCIS), MAP, lactate and urine output. Multi-factorial logistic regression analysis showed that NCIS was an independent risk factor for death in neonates with MODS treated with CRRT. CONCLUSIONS: Mortality of critically ill neonates with MODS who receiving CRRT remains high, and NCIS is an independent risk factor for their deaths. CRRT may be a safe and effective adjunctive therapy for critically ill neonates with MODS.
An international standardization to study the clinical use of lung ultrasound to discriminate viral, bacterial and atypical pneumonia in children with community acquired pneumonia.
Di Sarno L, Francavilla M, Orlandi A … +7 more , Morello R, De Rose C, Tagliaferri L, Clemente A, Supino MC, Musolino AM, Buonsenso D
Ital J Pediatr · 2025 Sep · PMID 40993800 · Full text
BACKGROUND: Community-acquired pneumonia (CAP) is a leading cause of morbidity and mortality in the pediatric population worldwide. Establishing a definitive etiological diagnosis in children with CAP remains challenging...
BACKGROUND: Community-acquired pneumonia (CAP) is a leading cause of morbidity and mortality in the pediatric population worldwide. Establishing a definitive etiological diagnosis in children with CAP remains challenging, as clinical, laboratory, and radiologic findings are often insufficient. Consequently, empirical and frequently unnecessary antibiotic treatments are commonly prescribed. MAIN BODY: Lung ultrasound (LUS) has demonstrated diagnostic accuracy comparable to chest X-ray (CXR) for CAP, while eliminating radiation exposure. Emerging evidence suggests that LUS may also differentiate the underlying etiologies of CAP. Assuming that distinct CAP etiologies exhibit characteristic LUS features, we aim to design a study protocol to develop a predictive model that integrates a child's clinical information with their specific LUS patterns to inform individualized treatment strategies. CONCLUSIONS: This clinical approach will comprehensively evaluate clinical, laboratory, LUS, and outcome data from pediatric patients with CAP of various causes. If more centers will use the same approach, this will allow to gather in the short time data from large and diverse cohorts to facilitate the optimization and understanding of how LUS can potentially help understanding the etiology of CAP. The integrated data will be used to support tailored management strategies for pediatric CAP.
Novel nicotine and tobacco products in pediatric age: a joint position paper.
Corsello A, Ferraro VA, Reali L … +6 more , Venditto L, Spatuzzo M, Di Cicco ME, Ghezzi M, Indinnimeo L, La Grutta S
Ital J Pediatr · 2025 Sep · PMID 40993785 · Full text
Electronic nicotine delivery systems (ENDS), heated tobacco products (HTP), and nicotine pouches have rapidly gained popularity among adolescents, driven by appealing flavors, targeted marketing strategies, and widesprea...
Electronic nicotine delivery systems (ENDS), heated tobacco products (HTP), and nicotine pouches have rapidly gained popularity among adolescents, driven by appealing flavors, targeted marketing strategies, and widespread misperceptions of reduced harm. This joint position paper, endorsed by the Italian Society of Pediatrics (SIP) and the Italian Pediatric Respiratory Society (SIMRI), considers current evidence on patterns of youth use and outlines potential prevention strategies. We examine industry tactics, including social-media influencer campaigns and product design features that disproportionately attract adolescents, and discuss the influence of peer, family, and environmental factors on product uptake. Parents and caregivers play a pivotal role through open dialogue, modeling nicotine-free behaviors, and monitoring access. Pediatricians and primary-care providers should incorporate routine screening for all nicotine products into well-child visits, deliver brief motivational counseling, and connect families with cessation resources tailored to teens. Continuous surveillance of youth consumption patterns and systematic evaluation of intervention effectiveness will ensure strategies remain responsive to evolving product designs and marketing practices. Through coordinated policy changes, healthcare support, community action, and education, it is possible to prevent nicotine initiation among adolescents and foster a generation free from smoke and vaping addiction.
A clinical prediction model for rapidly differentiating pulmonary tuberculosis from community acquired pneumonia in children.
Han C, Fang Y, Dong L … +5 more , Lei M, Hou M, Wang L, Guo W, Cai C
Ital J Pediatr · 2025 Sep · PMID 40993784 · Full text
BACKGROUND: Due to the non-specific symptoms of pulmonary tuberculosis (PTB) in children, the diagnosis of PTB in children is a major challenge for clinicians in the absence of microbiological confirmation. This study ai...
BACKGROUND: Due to the non-specific symptoms of pulmonary tuberculosis (PTB) in children, the diagnosis of PTB in children is a major challenge for clinicians in the absence of microbiological confirmation. This study aims to construct a simple clinical prediction model for empiric diagnosis of PTB through careful clinical symptoms and medical history. METHODS: Retrospective analysis of clinical data and laboratory data of children with PTB and community acquired pneumonia (CAP) diagnosed at Tianjin Children's Hospital from January 2018 to October 2023. All patients were randomly divided into a 7:3 ratio into a modeling group and a validation group. The modeling group was used to perform logistic analysis to identify independent risk factors and construct a clinical prediction model for PTB in children. The validation group was used to further assess the clinical efficacy of the model. RESULTS: A total of 434 children were included in this study. The modeling group included 305 patients (125 with PTB, 180 with CAP) and validation group included 129 patients (53 with PTB, 76 with CAP). Four variables including basic disease, tuberculosis contact history, maximum body temperature and weight loss were identified as potential predictors used for developing a nomogram. The nomogram showed a good diagnostic performance in the modeling group [area under the curve (AUC) (95% confidence interval (CI)), 0.810(0.759 ~ 0.860)]. The decision curve analysis (DCA) and calibration curve indicated that the clinical prediction model for pediatric PTB has good clinical practicality and accuracy. The validation group also showed good clinical efficacy [AUC (95%CI), 0.864(0.794 ~ 0.934)], indicating that the model is feasible and reproducible. CONCLUSIONS: This study developed and validated a nomogram for predicting PTB in children. This nomogram represents good clinical performance and might be utilized clinically in the empirical diagnosis of PTB in children.
Family phenotypic profile in hereditary hemorrhagic telangiectasia: genotype-phenotype correlation in a pediatric Italian population.
Giorgio V, Di Foggia C, Quatrale G … +12 more , Margiotta G, Stella G, Proli F, Leoni C, Onesimo R, Passali GC, Contegiacomo A, Zampino G, Cordisco EL, Sonnini E, Gasbarrini A, Gaetani E
Ital J Pediatr · 2025 Sep · PMID 40993782 · Full text
BACKGROUND: Hereditary Hemorrhagic Telangiectasia (HHT) is a rare, hereditary, autosomal dominant vascular disease, characterized by visceral arteriovenous malformations (AVMs), mucocutaneous telangiectasias and epistaxi...
BACKGROUND: Hereditary Hemorrhagic Telangiectasia (HHT) is a rare, hereditary, autosomal dominant vascular disease, characterized by visceral arteriovenous malformations (AVMs), mucocutaneous telangiectasias and epistaxis. While symptomatic medical and surgical therapies are used in the management of pediatric patients, data comparing phenotypic presentation between genetically related individuals (e.g., parent-child pairs) remain limited. AIMS AND METHODS: We conducted a single-center retrospective study involving pediatric patients with genetically confirmed HHT and their affected parents at Fondazione Policlinico Universitario A. Gemelli IRCCS in Rome, Italy. The aim of our study was to assess genotype-phenotype correlation and intrafamilial HHT-phenotypic variability. Clinical, laboratory, imaging, and therapeutic data were collected between May 2022 and May 2023. Variables including presence of AVMs, epistaxis, telangiectasias, anemia, and need for interventions were compared between children and their parents. RESULTS: The study included 11 children (mean age 11.8 years) and 9 adults (mean age 47 years), all exhibiting ENG or ACVRL1 variants. While epistaxis was common in both cohorts (91% in children vs. 100% in adults), mucocutaneous telangiectasias and AVMs were more prevalent in adults. AVMs were more frequently detected in adults, especially among ENG carriers. Notably, phenotype concordance between parent-child pairs with the same mutation was observed in only 3 up to 9 families (33.3%), with substantial intrafamilial variability in AVM distribution and disease severity. CONCLUSIONS: Our findings confirm the variable expressivity of HHT, even among first-degree relatives sharing the same pathogenic variant. No consistent overlap was observed between parent and child phenotypes, reinforcing the need for individualized pediatric screening and follow-up. Early genetic testing remains essential to prevent complications and guide appropriate management.
Management of acute mastoiditis in children: a retrospective analysis.
Reale M, Montagnani C, Orlando P … +8 more , Mazzetti L, Trinci M, Leone L, Guidi M, Indolfi G, Trapani S, Trabalzini F, Galli L
Ital J Pediatr · 2025 Sep · PMID 40993659 · Full text
BACKGROUND: Acute mastoiditis (AM) is the most common complication of acute otitis media (AOM) and could lead to serious complications if not diagnosed early and treated appropriately. Nowadays, there is no definitive co...
BACKGROUND: Acute mastoiditis (AM) is the most common complication of acute otitis media (AOM) and could lead to serious complications if not diagnosed early and treated appropriately. Nowadays, there is no definitive consensus about the diagnostic algorithm and the optimal therapeutic management for patients with AM. The purpose of this study is to analyze the management of children admitted for AM and complicated AM (CAM) in a referral children's hospital, evaluating differences in clinical presentation and management to outline a diagnostic and therapeutic pathway. Moreover, the incidence over time was assessed. METHODS: Retrospective study of children admitted for AM at Meyer University Hospital- IRCCS, Florence from January 2016 to December 2023. RESULTS: Eighty-five patients were included in the study (60% male, median age 4 years), the microbiological examinations were carried out in 68% of them. The most frequent isolated pathogens were Pseudomonas aeruginosa in AM and Streptococcus pyogenes in CAM. Seventeen patients developed a CAM. An elevated CRP value is associated with an increased risk of CAM (p = 0.043). Management of patients with AM was mainly medical with intravenous antibiotics. Surgical intervention was required only in one case (1 out of 68). In contrast, surgical intervention was required in 76% of CAM cases (13 out of 17). The most common procedure was mastoidectomy combined to abscess drainage, according to the predominance of this complication in our study group. Only one patient had a recurrence leading to a second surgery. No significant statistical correlation was found between the occurrence of complications and younger age, personal history of otitis or leukocyte count. A significant increase in AM case was found during the study period. CONCLUSIONS: AM and CAM are infrequent but potentially life-threatening complications of AOM. A marked rise in AM cases was observed in 2023, likely due to the lifting of pandemic restrictions. A heterogeneous management of mastoiditis was observed, even within a single center. Elevated CRP levels are the only identified parameter associated with the complicated form. Pediatricians should be aware of the importance of a prompt diagnosis and guidelines should be developed to support effective management.
Staphylococcical scalded skin syndrome: a case series description of a rare and critical disease in a tertiary pediatric center.
Tamborino A, Venturini E, Montagnani C … +5 more , Bianchi L, Indolfi G, Chiappini E, Galli L, Trapani S
Ital J Pediatr · 2025 Sep · PMID 40898255 · Full text
BACKGROUND: Staphylococcal-scalded skin syndrome (SSSS) is a potentially life-threatening disorder characterized by superficial skin blistering caused by exfoliative toxins produced by Staphylococcus aureus. This study a...
BACKGROUND: Staphylococcal-scalded skin syndrome (SSSS) is a potentially life-threatening disorder characterized by superficial skin blistering caused by exfoliative toxins produced by Staphylococcus aureus. This study aimed to investigate SSSS in a cohort of children admitted at a tertiary pediatric hospital in Italy. METHODS: Patients discharged with the diagnosis of staphylococcal infection and of SSSS between January 2010 and March 2023 were retrospectively identified using ICD-9-CM codes (695.81 and 041.1, respectively). Medical records were reviewed to extract epidemiological, clinical, and hematological data, treatment details (type and duration), length of hospitalization, and outcomes. RESULTS: Among 971 children with staphylococcal infection, 21 (2.1%) were diagnosed with SSSS. The mean age of 36.8 (interquartile range, IQR 8.5-50.7) months, with 86% under 5 years old. Incidence peaked in winter, summer, and autumn (27.3%, respectively), possibly due to viral co-infection. The admissions/year rate did not indicate an upward trend. Almost all children were healthy. No previous trauma, insect bites, drugs, vaccines, or allergy history have been reported; atopic dermatitis has been reported in one girl. Leukocytosis and elevated C-reactive protein were uncommon. Severe complications were seen in three cases (14.3%): one with severe dehydration with hyponatremia, one with sepsis and the last with Herpes Simplex Virus 1 (HSV1) infection. S. aureus was detected by culture from skin lesions in nine cases (42.9%), by real-time polymerase chain reaction (RT-PCR) assay on vesicle fluid in seven (33%), and by throat culture in one (4.7%). Drug susceptibility tests ruled out resistance and all children received intravenous (IV) antibiotics: oxacillin in 76% of patients, while teicoplanin and clindamycin in 19%. The median duration of IV and oral antibiotic therapy was 12.8 days (IQR 10-14). Only one patient was treated with IV immunoglobulin. The median hospitalization length was 7.8 days (IQR 5-9). All our cases had a favorable outcome. CONCLUSION: Demographic, clinical. and hematological features of children with SSSS in this study were comparable with those reported in the literature. The improved awareness of pediatricians should faster diagnosis, which is mainly clinical, and early assessment of appropriate management.
Clinical characteristics of SFTPC gene mutations in children: a single-center experience.
Yang T, Zhang F, Zheng G … +5 more , Yang D, Wu L, Jia X, Zhu G, Tang L
Ital J Pediatr · 2025 Sep · PMID 40890883 · Full text
BACKGROUND: In pulmonary surfactants, surfactant protein C (SP-C) plays a critical role in regulating surface tension at the air-liquid interface of alveoli, primarily due to its robust hydrophobic property. Genetic muta...
BACKGROUND: In pulmonary surfactants, surfactant protein C (SP-C) plays a critical role in regulating surface tension at the air-liquid interface of alveoli, primarily due to its robust hydrophobic property. Genetic mutations in the SP-C gene can compromise its structural integrity, thereby impairing its functional efficiency in surface tension modulation. METHOD: A retrospective analysis was performed on 11 pediatric patients harboring SP-C gene mutations who were admitted to our medical center between June 2014 and June 2024. RESULTS: 11 pediatric patients with heterozygous SFTPC gene mutations were identified at our center. The age of onset spanned from birth to 5 years 2 months. Genetic analysis revealed that 9 patients carried the same SFTPC gene mutation at c.218T > C (p.Ile73Thr). 1 case previously reported, had compound mutations in both NKX2-1 and SFTPC genes. 1 case was newly identified splicing variant (c.612 + 1G > T). Predominant clinical manifestations included dyspnea and respiratory failure. Chest imaging predominantly demonstrates interstitial lung diseases (ILDs). In treatment, besides oxygen support, 3 patients received hydroxychloroquine (Hch) and 7 cases were administered azithromycin for infection prophylaxis. All patients received low-dose methylprednisolone (1-2 mg/kg/day) during the course. Bronchoalveolar lavage (BAL) was performed in 3 cases with pulmonary alveolar proteinosis and one cases with pulmonary atelectasis. Long-term follow-up through the present time revealed 4 deaths and 7 survivors among the cohort. CONCLUSION: The c.218T > C (p.Ile73Thr) variant represents a hotspot mutation in the SFTPC gene, clinically manifesting as ILDs. The therapeutic efficacy of Hch in managing ILDs has been increasingly recognized in clinical practice. BAL is assuming a growing role in both the diagnosis and treatment of SFTPC-related pediatric ILD. Given the heterogeneity of mutation sites, the pathogenic mechanisms underlying lung injury may vary among patients, underscoring the need for personalized diagnostic and therapeutic strategies tailored to specific genetic profiles.
A comparative analysis of clinical phenotypes and outcomes in childhood interstitial lung disease due to surfactant dysfunction disorders: focusing on mutations in SFTPC, ABCA3, and NKX2-1 genes.
Tang X, Zhao S, Shen Y … +8 more , Tang Y, Yao X, Xu H, Liu H, Zhang X, Li X, Wang Y, Yang H
Ital J Pediatr · 2025 Aug · PMID 40866983 · Full text
BACKGROUND: Surfactant dysfunction disorders are a group of rare diseases that lead to childhood interstitial lung diseases (ILD). SFTPC, ABCA3, and NKX2-1 are the three genetic forms of this condition. The differences i...
BACKGROUND: Surfactant dysfunction disorders are a group of rare diseases that lead to childhood interstitial lung diseases (ILD). SFTPC, ABCA3, and NKX2-1 are the three genetic forms of this condition. The differences in clinical presentations and prognostic outcomes across these genotypes are not well understood, warranting comparative analysis. METHODS: We conducted a retrospective cohort study of 22 children with genetically confirmed surfactant dysfunction disorders (11 SFTPC, 5 ABCA3, 6 NKX2-1). Comprehensive evaluations included clinical features, high-resolution computed tomography (HRCT), serum Krebs von den Lungen-6 antigen (KL-6) levels, autoantibody profiles, immune function assessments, bronchoalveolar lavage fluid analysis, echocardiography, pathology, genetic testing, treatment regimens, and outcomes. RESULTS: The median age at onset was 0.7 years, with the earliest onset in the NKX2-1 group (0.4 years) and the latest in the ABCA3 group (1.7 years). At presentation, the SFTPC group had the lowest respiratory symptom scores, followed by the ABCA3 group, while the NKX2-1 group showed the highest scores (P = 0.034). Pulmonary hypertension prevalence varied significantly among groups (P = 0.005), being highest in the NKX2-1 group (66.7%) and absent in the SFTPC group. KL-6 levels were lowest in the SFTPC group (1302 U/mL), intermediate in the ABCA3 group (4780 U/mL), and highest in the NKX2-1 group (6106.5 U/mL) (P = 0.064). Positive autoantibodies were detected in 27.3% of cases, and diffuse alveolar hemorrhage (DAH) occurred in 13.6%. At the last follow-up, the NKX2-1 group had significantly higher HRCT scores (P = 0.030) and KL-6 levels (P = 0.024) compared to the SFTPC group. The SFTPC group showed significant improvements in symptom scores (median 4 to 2, P = 0.001), HRCT scores (median 24 to 11, P = 0.001), and KL-6 levels (median 1302 U/mL to 620.5 U/mL, P = 0.008) after treatment. In contrast, the NKX2-1 group had worsening symptom scores (median 4.5 to 5.5, P = 0.031) and HRCT scores (median 17.5 to 30, P = 0.031). Among patients receiving combination therapy of corticosteroid and hydroxychloroquine, the SFTPC group had the lowest mortality rate (0%), while the NKX2-1 group had the highest (60%) (P = 0.041). CONCLUSION: Patients in the SFTPC group were associated with milder phenotypes and better prognosis than patients in the NKX2-1 group in our cohort. A potential association between surfactant dysfunction disorders and autoimmune conditions, as well as DAH, may exist, warranting further investigation.
A survey of current management practices for delayed maculopapular exanthemas during antibiotic treatment among primary care pediatricians.
Liotti L, Bianchi A, Crisafulli G … +9 more , Caimmi S, Bottau P, Franceschini F, Valluzzi RL, Riscassi S, Saretta F, Miraglia Del Giudice M, Caffarelli C, Mori F
Ital J Pediatr · 2025 Aug · PMID 40866903 · Full text
BACKGROUND: Several guidelines recommended how to manage delayed maculopapular exanthemas during antibiotic treatment. The aim of the present survey was to assess knowledge gaps of primary care pediatricians in managing...
BACKGROUND: Several guidelines recommended how to manage delayed maculopapular exanthemas during antibiotic treatment. The aim of the present survey was to assess knowledge gaps of primary care pediatricians in managing children with delayed maculopapular exanthemas during a course of antibiotics. METHODS: We conducted an online survey among primary care pediatricians in Italy, focusing on the management of children with maculopapular exanthemas occurring during antibiotic administration. RESULTS: We found that 41% of pediatricians continued with the same antibiotic after the onset of mild to moderate maculopapular exanthemas. Additionally, only 25% took pictures of the skin manifestations during the acute phase, and 66% recorded the latency of the reaction. CONCLUSIONS: Primary care management of children with suspected antibiotic induced maculopapular exanthemas is heterogeneous. Primary care physicians and allergists need to share common decisions and protocols to avoid mislabelling children as allergic to antibiotics.
Changes in intestinal bacterial characteristics during hospitalization in the NICU in very low birth weight infants.
Wu J, Wang T, Yu B
Ital J Pediatr · 2025 Aug · PMID 40859345 · Full text
BACKGROUND: The gut microbiota plays a crucial role in neonatal defense against pathogens, immune training, nutrient absorption, and postnatal disease development. METHODS: We prospectively collected fecal samples from 5...
BACKGROUND: The gut microbiota plays a crucial role in neonatal defense against pathogens, immune training, nutrient absorption, and postnatal disease development. METHODS: We prospectively collected fecal samples from 58 very low birth weight infants and 34 preterm infants with birth weights > 1500 g during their first two postnatal months. Using 16SrRNA sequencing, we characterize the compositional dynamics of gut microbiota in very low birth weight infants during early postnatal development, and evaluate potential associations with clinical factors. RESULTS: In the very low birth weight infants group (experimental group), a total of 45 bacterial phyla and 1,327 genera were identified. The top two dominant phyla were Proteobacteria (65.64%) and Firmicutes (29.64%), accounting for 95.28% collectively. Among the dominant phyla, the experimental group showed significantly higher levels of Bacteroidetes (P < 0.001) and Firmicutes (P = 0.018) compared to the control group, whereas Acidobacteria (P < 0.001), Proteobacteria (P < 0.001), Fusobacteria (P = 0.001), Chloroflexi (P = 0.018), and Patescibacteria (P = 0.006) were significantly lower. The top 10 dominant genera represented 91.9% of the total. At the genus level, the experimental group had significantly higher abundances of Klebsiella (P = 0.016), Streptococcus (P < 0.001), Corynebacterium_1 (P < 0.001), Clostridium_sensu_stricto_1 (P = 0.018), Clostridioides (P = 0.013), Staphylococcus (P < 0.001), and Lactobacillus (P = 0.001), while Escherichia_Shigella, Sphingomonas (P = 0.013), Veillonella (P = 0.037), Methylobacterium (P = 0.021), and Enterobacter (P = 0.029) were significantly lower compared to controls. Additionally, during the first 28 days after birth, the control group exhibited higher relative abundance of Bifidobacterium than the experimental group. Compared to preterm infants with birth weight > 1500 g, very low birth weight infants demonstrated more active intestinal metabolism. Within the very low birth weight infants, probiotic use, delivery mode, and premature rupture of membranes significantly influenced the relative abundances of Streptococcus, Clostridium_sensu_stricto_1, and Pseudomonas, respectively. CONCLUSIONS: Very low birth weight infants exhibit distinct gut microbiota characteristics during their first two months of life. Factors including probiotic using, delivery mode, and premature rupture of membranes significantly influence specific bacterial populations. The gut microbiome represents a crucial influencing the health outcomes of very low birth weight infants.
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