Italian Journal of Pediatrics最新文献

{"title":"Negative pressure pulmonary edema and hemorrhage after near fatal suffocation in an infant: a case report.","authors":"Valentina Tonazzo, Chiara Po', Silvia Bertolo, Valentina Agnese Ferraro, Stefania Zanconato, Stefano Martelossi, Silvia Carraro","doi":"10.1186/s13052-025-02015-6","DOIUrl":"10.1186/s13052-025-02015-6","url":null,"abstract":"<p><strong>Background: </strong>Pulmonary hemorrhage is rare but potentially life-threatening in children. Many causes are usually described, as cardiogenic, infective or immune. Pulmonary hemorrhage related to negative pressure pulmonary edema (NPPE) is uncommon in the pediatric population and there is limited literature about it. This is one of the few case reports regarding NPPE in infants presenting with pulmonary hemorrhage.</p><p><strong>Case presentation: </strong>We describe the story of a 6-weeks-old boy who presented epistaxis and hemoptysis associated with symptoms related to NPPE after near fatal suffocation. Radiological findings were consistent with alveolar hemorrhage. Supportive therapy was performed, with clinical recovery within a few days and radiological normalization within one month.</p><p><strong>Conclusion: </strong>NPPE associated with pulmonary hemorrhage is a dramatic condition but usually has a quick recovery with just supportive therapy. The aim of our report is to increase the awareness and emphasizes the importance of including this entity in the differential diagnosis of pulmonary hemorrhage in children with a suspicious anamnestic history of upper airway obstruction.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"178"},"PeriodicalIF":3.2,"publicationDate":"2025-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12145607/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144247780","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Histopathological examination of lung from infant with lethal COVID-19 with special attention on pneumocytes type II and the immune infiltrate: a case study.","authors":"Maya Gulubova, Vesselina Merhar, Dimitar Chonov, Mitko Mitev, Lilia Pekova, Julian Ananiev","doi":"10.1186/s13052-025-01984-y","DOIUrl":"10.1186/s13052-025-01984-y","url":null,"abstract":"<p><strong>Background: </strong>COVID-19 is a complex disease caused by SARS-CoV-2. The molecular and cellular mechanisms of the disease are unclear and their study is one of the greatest challenges for the modern science. Since the lung is the biggest target for SARS-CoV-2, the studies on cellular and molecular changes in this organ are essential to establish the pathogenesis of the disease. To date there is increasing number of reports on the lung pathology of fatal COVID-19 and the results are mainly obtained by autopsies of elderly patients, since this age group shows highest mortality. Little is known about the progression of the disease in children and especially newborn and infants and, to our knowledge, there are no reports on the lung features of fatal COVID-19 in this age group.</p><p><strong>Methods: </strong>In the present case study, we have investigated the lung morphological features in 11-months old infant who has died as a result of complications from COVID-19. Immunohistochemistry for immune cell markers and transmission electron microscopy for alveolocytes type II (ATII) are made.</p><p><strong>Results: </strong>Immediate cause of the death was acute respiratory failure resulting from bilateral interstitial pneumonia and subsequent acute cardiovascular failure. The histopathology shows lung edema, hyaline membranes, airway mucus plugging and interstitial inflammation. On cellular level we have observed a substantial increase in the number of ATII cells. ATII cells were marked with cytokeratin 19, TTF1 and napsin A. Transmission elec-tron microscopy reveals ongoing apoptosis in these cells with a typical chromatin clustering and condensation towards the inner nuclear membrane. Immunohisto-chemistry shows significant increase of CD68+ macro-phages in the alveoli, increase of IL-6 in immune and stromal cells, moderate elevation of FOXP3+ and IL-17+ cells and expression of CD4+ and CD8+ cells in alveolar walls. Immune cell interactions are discussed in the sense of ongoing cytokine storm.</p><p><strong>Conclusions: </strong>Our findings highlight the complexity of COVID-19 lung affection, involving ATII cell hyperplasia, interstitial mononuclear cell infiltration and macrophages increase. The findings provide an additional knowledge on the pathophysiology of COVID-19 in the lung and can serve as a basis for investigation of molecular mechanisms of this disease.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"174"},"PeriodicalIF":3.2,"publicationDate":"2025-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12145646/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144247778","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prediction model for severe mycoplasma pneumoniae pneumonia and analysis of macrolide-resistance in children: a case-control study.","authors":"Shaoying Liu, Lijun Zhang, Lei Dai, Jinhui Li, Deyuan Li","doi":"10.1186/s13052-025-02039-y","DOIUrl":"10.1186/s13052-025-02039-y","url":null,"abstract":"<p><strong>Background: </strong>To analyze the clinical features, laboratory findings, and imaging characteristics of severe Mycoplasma pneumoniae pneumonia (SMPP) in children, identify early warning indicators, and characterize macrolide-resistant M. pneumoniae pneumonia (MRMPP). Additionally, we developed and validated a nomogram model for predicting the risk of SMPP.</p><p><strong>Methods: </strong>This retrospective cohort study included children diagnosed with M. pneumoniae pneumonia (MPP) who were admitted to the West China Second Hospital of Sichuan University between September 2022 and February 2024. Data on demographics, clinical manifestations, laboratory results, and imaging findings were collected and analyzed.</p><p><strong>Results: </strong>Compared to non-severe cases, children with SMPP had a significantly longer fever duration (8 days vs. 4 days, P < 0.001), higher peak body temperature (39.3 °C vs. 38.5 °C, P < 0.001), and a higher incidence of wheezing (13% vs. 0%, P < 0.05). There was no significant difference in macrolide resistance rates between the groups (P > 0.05). Radiological analysis revealed a higher frequency of pulmonary consolidation (69% vs. 0%, P < 0.001) and pleural effusion (22% vs. 7%, P = 0.031) in the SMPP cohort. LASSO regression identified eight key predictors: fever duration, peak body temperature, wheezing, extrapulmonary complications, hemoglobin levels, pulmonary consolidation, mosaic sign, and bronchial occlusion. The nomogram demonstrated excellent discriminative ability, with training and validation AUC values of 0.972 (95% CI 0.960-0.984) and 0.975 (95% CI 0.958-0.992), respectively.</p><p><strong>Conclusions: </strong>We developed and validated a nomogram for quantitative risk assessment of SMPP. This model can aid clinicians in the early identification of severe cases and in optimizing treatment strategies.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"180"},"PeriodicalIF":3.2,"publicationDate":"2025-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12145612/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144247781","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparison between INTERGROWTH-21ST and Fenton charts for extrauterine growth in very low birth weigth infants.","authors":"Ilkyaz Turktan, Omer Erdeve, Ezgi Kostekci, Emel Okulu, Begum Atasay, Saadet Arsan","doi":"10.1186/s13052-025-01939-3","DOIUrl":"10.1186/s13052-025-01939-3","url":null,"abstract":"<p><strong>Background: </strong>The growth of premature infants is expected to be equivalent to healthy fetal growth, but this is rarely achieved in practice. It is predicted that many premature infants, especially severe premature infants, will be discharged with growth restriction. Extrauterine growth retardation (EUGR) is defined as growth below the 10th percentile of the growth curve at discharge at corrected 36th/40th week of gestation, or a difference between birth and discharge z-score > 1 SD. The aim of our study is to determine the differences between the INTERGROWTH-21ST and the Fenton chart in the assessment of extrauterine growth.</p><p><strong>Methods: </strong>Infants < 1500 g born or transferred in the first 24 h at Ankara University NICU between January 1, 2015 and December 31, 2019 were included. Infants with major congenital anomalies, unknown gestational age, chromosomal anomalies, hydrops fetalis, TORCH infection, infants born to substance abusing mothers, and infants who died during hospitalization were excluded.</p><p><strong>Results: </strong>According to the Fenton, the rate of EUGR at discharge was 66.3%. There was no significant difference between the groups EUGR and non-EUGR in gender, gestational diabetes, maternal smoking during pregnancy, placental abruption, magnesium sulphate prophylaxis, development of respiratory distress, and need for intubation in the first 3 days after birth. When patients were grouped according to birth weight, the highest rate of EUGR according to the Fenton was found in the group with a birth weight ≤ 1000 g (78.8%) (p = 0.036). The proportion of patients defined as SGA by INTERGROWTH-21ST was significantly higher than by Fenton (p < 0.001). Comparing the mean z scores for body weight, height and head circumference at birth and discharge calculated from the Fenton and INTERGROWTH-21 charts, the z scores for body weight and height at birth and discharge were significantly lower in the INTERGROWTH-21 (p < 0.001). Head circumference z-scores at birth and discharge were found to be higher in the Fenton chart than in the INTERGROWTH-21ST (p < 0.001). When EUGR rates were evaluated by body weight in Fenton and INTERGROWTH-21ST, the EUGR rate was found to be higher in Fenton (p < 0.001).</p><p><strong>Conclusions: </strong>The results show that when INTERGROWTH-21ST and Fenton are compared, INTERGROWTH-21ST is more sensitive in defining the SGA rate. The Fenton is more sensitive in defining EUGR at discharge. These differences between the charts make it difficult to monitor the growth of premature infants and to follow comorbidities. Therefore, the establishment of ideal growth curves is of great importance both during hospitalization and after discharge of premature infants.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"176"},"PeriodicalIF":3.2,"publicationDate":"2025-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12145624/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144247777","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Subacute sclerosing panencephalitis as a re-emerging condition due to low vaccination coverage: a case-series.","authors":"Gabriella Errichiello, Francesco Tengattini, Silvia Gioacchini, Maria Fulvia De Leva, Stefania Graziano, Giorgia Bruno, Paola Bucci, Emilio D'Ugo, Claudio Ruggiero, Fabio Magurano, Antonio Varone","doi":"10.1186/s13052-025-02026-3","DOIUrl":"10.1186/s13052-025-02026-3","url":null,"abstract":"<p><strong>Background: </strong>Subacute sclerosing panencephalitis (SSPE) is a chronic progressive disease affecting the central nervous system (CNS) because of persistent measles virus (MeV) infection. The disease presents with a range of symptoms, starting with gradual cognitive and motor decline, progressing to coma, vegetative state, and typically resulting in death within 3-4 years of clinical onset. The incidence of SSPE is inversely related to vaccination coverage and its pathogenesis remains poorly understood. The primary risk factor is infection by the wild type of measles virus, particularly in individuals who may be predisposed to infection due to a lack of herd immunity or immunosuppressed states. Furthermore, the risk of developing SSPE increases with the younger age at which a person contracts measles.</p><p><strong>Case presentation: </strong>We provide a description of the disease, characterizing its clinical course, diagnostic work-up and treatment options. We will also present a series of cases observed at the Santobono-Pausilipon Children's Hospital, in Naples, Italy, highlighting both typical and atypical presentations, with a particular emphasis on the pharmacological and neurosurgical treatments for the condition.</p><p><strong>Conclusions: </strong>The objective of this study is to raise awareness about the increasing prevalence of conditions following the SARS-Cov2 pandemic, with an emphasis on the importance of vaccination adherence as the only effective prevention method for SSPE.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"173"},"PeriodicalIF":3.2,"publicationDate":"2025-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12145622/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144247782","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Update on disseminated cryptococcosis in non-HIV infected children.","authors":"Xiao-Bo Zhang, Huiying Lin, Xiao Wu, Guang-Min Nong","doi":"10.1186/s13052-025-02011-w","DOIUrl":"10.1186/s13052-025-02011-w","url":null,"abstract":"<p><strong>Background: </strong>Disseminated cryptococcosis is a rare disease in children, especially in children with normal immunity. The understanding of this disease needs to be improved. This study aims to update the global situation of disseminated cryptococcosis in non-HIV infected children for the first time.</p><p><strong>Methods: </strong>The clinical data of a child with disseminated cryptococcosis was retrospectively analyzed, and disseminated cryptococcosis clinical features of published studies were summarized. Electronic databases were searched in February 2025. Clinical studies that meet the criteria were included in the present study.</p><p><strong>Results: </strong>Totally 116 cases were analyzed in this study, including 1 case in our center and 115 cases from 45 studies. The cohort included 82 males (70.7%) and 34 females (29.3%), with ages ranging from 10 months to 18 years. The main clinical manifestations were fever (79.3%), respiratory symptoms (41.4%), and neurological symptoms (39.7%), followed by hepatosplenomegaly (35.3%), rash (27.6%), lymphadenopathy (18.1%), and gastrointestinal symptoms (16.4%). The most commonly affected organs were the lungs (77.6%), central nervous system (53.4%), and lymph nodes (51.7%). Immunodeficiency was present in 12.9% of children (3.4% domestic cases vs. 9.5% foreign cases). Elevated eosinophils were observed in 43 patients (37.1%), and elevated IgE levels in 35 patients (30.2%). The most common pathogen-positive specimens were cerebrospinal fluid (54 cases, 46.6%), blood cultures (49 cases, 42.2%), lymph node biopsies (26 cases, 22.4%), bone marrow (18 cases, 15.5%), and skin samples (8 cases, 6.9%). Combination therapy was administered to 89 patients (76.7%), while 21 patients (18.1%) received monotherapy. Clinical improvement occurred in 94 patients (81.0%), with 15 fatal cases.</p><p><strong>Conclusions: </strong>Disseminated cryptococcosis in children often presents with fever, respiratory and neurological symptoms, with the lungs, central nervous system, and lymph nodes being the most frequently involved organs. Most cases do not have immunodeficiency or underlying diseases, and blood tests often reveal eosinophilia and elevated IgE levels. The positive detection rates of pathogens are relatively high in blood cultures, cerebrospinal fluid, bone marrow cultures, and lymph node biopsies. The majority of patients achieved favorable therapeutic outcomes with combination therapy.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"177"},"PeriodicalIF":3.2,"publicationDate":"2025-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12145619/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144247784","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The use of 2% chlorhexidine gluconate in 70% isopropyl alcohol for skin disinfection prior to central venous catheterization in infants: a national survey of the Italian Society of Neonatology.","authors":"Vito D'Andrea, Antonella Capasso, Carmen Rodriguez-Perez, Francesca Tota, Rossella Mastroianni, Giorgia Prontera, Giovanni Barone","doi":"10.1186/s13052-025-02016-5","DOIUrl":"10.1186/s13052-025-02016-5","url":null,"abstract":"<p><strong>Background: </strong>2% Chlorhexidine gluconate in a 70% alcohol solution is considered the gold standard for skin disinfection in adult and paediatric patients prior to insertion of a central venous catheter. The use of chlorhexidine gluconate in infants remains controversial due to concerns about potential risks of skin injury such as chemical burns, contact dermatitis and systemic absorption. The objective of this survey is to investigate the practice of skin disinfection with 2% chlorhexidine gluconate in 70% isopropyl alcohol prior to central venous catheterization in infants in Italy.</p><p><strong>Methods: </strong>Over a one-year period, we conducted an online survey in 114 neonatal intensive care units on the use of skin antiseptics for central venous catheters in neonates.</p><p><strong>Results: </strong>Sixty-five percent of the centers use a 2% chlorhexidine solution in a 70% alcohol solution for skin disinfection before inserting central catheters in neonates. Ten percent use povidone-iodine, and two percent use sodium hypochlorite. Among those using alcoholic chlorhexidine, sixty-five percent use it without any restrictions, thirty percent limit its use based on the gestational age of the neonate, and five percent limit it based on the neonatal weight. Thirty-seven percent of the centers rinse off the chlorhexidine solution due to concerns about chemical injuries.</p><p><strong>Conclusions: </strong>The survey revealed that there's still a lack of uniformity in the use of skin disinfectants before central catheter placement. The Neonatal Vascular Access Group (AVN GdS) of the Italian Society of Neonatology reiterates the use of 2% chlorhexidine in a 70% alcohol solution for skin disinfection before central catheter insertion, as recommended by recent guidelines. However, specific precautions must be taken to avoid complications.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"172"},"PeriodicalIF":3.2,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12144814/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144247783","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Complicated Infantile Hemangiomas in the palate: case report of a newborn patient and review of the literature.","authors":"Marco Pensabene, Chiara Cambiaso, Maria Patti, Maria Sergio, Gregorio Serra, Francesco Grasso, Fabio Baldanza, Mario Giuffre', Giovanni Corsello, Maria Rita Di Pace","doi":"10.1186/s13052-025-02030-7","DOIUrl":"10.1186/s13052-025-02030-7","url":null,"abstract":"<p><strong>Background: </strong>Infantile hemangiomas (IH) are the most common benign vascular tumors in neonates, with a prevalence of 5-10% in full-term infants. Its occurrence in the palate is rare. While typically self-limiting, complicated IHs can lead to significant morbidity, especially when involving critical structures.</p><p><strong>Case presentation: </strong>We report the case of a full-term newborn presenting with a 2×2 cm exophytic lesion on the hard palate, causing feeding difficulties, anemia, and recurrent bleeding. Early administration of oral propranolol, initiated on the 11th day of life, proved effective in managing this complicated IH. The treatment, started at a dose of 0.5 mg/kg/day and gradually increased to 3 mg/kg/day, resulted in rapid ulceration healing and lesion regression. Follow-up over eight months confirmed the therapy's efficacy and safety, with no adverse effects reported. To contextualize this case, a systematic review of the literature was conducted following PRISMA guidelines, focusing on neonatal IHs of the head and neck treated with beta-blockers. Out of 1052 papers identified between 2015 and 2024, only four relevant studies were included. These cases highlighted propranolol's role as a first-line treatment for complicated IHs, even in neonates. However, the review also emphasized diagnostic challenges, particularly in atypical locations such as the hard palate, which may delay therapy.</p><p><strong>Conclusions: </strong>This case and literature review underscore the importance of early diagnosis and a multidisciplinary approach for managing high-risk IHs. While propranolol is generally avoided in neonates younger than 45 weeks of corrected gestational age due to potential adverse effects, our findings suggest that close monitoring in a hospital setting enables its safe administration. This report contributes to the growing evidence supporting propranolol as a safe and effective therapy for neonatal IHs and highlights the need for further research to refine treatment protocols for this vulnerable population.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"171"},"PeriodicalIF":3.2,"publicationDate":"2025-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12142874/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144234022","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"SCN2A gene mutations with epilepsy: single center experience.","authors":"Tong Zhao, Fang Chen, Le Wang, Yun Xie, Minglei Yang, Fan Feng","doi":"10.1186/s13052-025-02009-4","DOIUrl":"10.1186/s13052-025-02009-4","url":null,"abstract":"<p><strong>Background: </strong>To explore the clinical phenotypic characteristics and genetic analysis of children with SCN2A gene mutation-related epilepsy.</p><p><strong>Methods: </strong>A retrospective study of children with SCN2A gene mutation epilepsy admitted to the Department of Neurology of Hebei Provincial Children's Hospital from January 2020 to May 2023 was conducted to analyze their clinical characteristics, treatment response, and prognosis, and to explore the correlation between mutation type and efficacy.</p><p><strong>Results: </strong>The age of onset of disease in the 12 children with SCN2A was distributed from 22 h after birth to 10 years and 11 months of age, the neonatal missense mutation was the most common, followed by nonsense mutation, the type of seizure was predominantly generalized tonic-clonic seizures(Generalized tonic-clonic seizures, GTCS), paraventricular white matter echo enhancement was the most common of the magnetic resonance image(Magnetic resonance image, MRI), and electroencephalogram(Electroencephalogram, EEG) were predominantly spiking and spiking-slow wave issuance in all phases of wakefulness and sleep, and there was a generalized developmental disorder in 11 cases; of the 12 cases of the children, the diagnosis of epilepsy was diagnosed in 3 cases, and levetiracetam(Levetiracetam, LEV) treatment was ineffective in all of them; epilepsy syndrome was diagnosed in 9 cases, of which 4 cases of Dravet syndrome(Dravet syndrome, DS) had the highest number of cases, and LEV and valproate(Valproate, VPA) were effective in 50% of the children, and multiple medications were ineffective in the remaining 2 cases; 2 children with west syndrome(West syndrome, WS) were ineffective in the administration of topiramate(Topiramate, TPM), clonazepam(Clonazepam, CZP), and pro-adrenocorticotropic hormone, All have global developmental delays; 2 cases of ohtahara syndrome(Ohtahara syndrome, OS), 1 case of phenobarbital(Phenobarbital, PB) treatment was effective, 1 case was ineffective in multiple drug treatment; 1 case of self-limited epilepsy with centrotemporal spikes(self-limited epilepsy with centrotemporal spikes, SeLECTS) with normal development of central temporal spikes, LEV could control seizures.</p><p><strong>Conclusion: </strong>Cases of refractory epilepsy in infancy and young children with autism and abnormal paraventricular white matter on magnetic resonance imaging should be vigilant of SCN2A gene mutations. The degree of epilepsy control cannot be predicted based on the type of gene mutation, and treatment with LEV, VPA, and PB can achieve therapeutic effects in controlling epilepsy.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"170"},"PeriodicalIF":3.2,"publicationDate":"2025-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12135295/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144215813","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dynamic changes of serum matrix metalloproteinases and tissue inhibitors in Kawasaki disease: implications for coronary artery lesions persistence.","authors":"Yaqi Li, Yao Lin, Chen Shen, Jing Zhang, Hui Wang, Qin Zhang, Lin Shi","doi":"10.1186/s13052-025-01990-0","DOIUrl":"10.1186/s13052-025-01990-0","url":null,"abstract":"<p><strong>Background: </strong>The mechanism of coronary artery lesions (CALs) persistence in Kawasaki disease (KD) remains unclear. The study aimed to investigate the serum dynamic changes of matrix metalloproteinases (MPPs) and tissue inhibitors (TIMPs) in children with CALs caused by KD, and explore their correlation with short-term CAL outcomes.</p><p><strong>Methods: </strong>This is a nested case-control study. A total of 114 KD children with CALs completed the 3-month follow-up in discovery set and validation set. Children with CALs persisted after 3 months were enrolled as the CALs persistence group. The CALs regression group consisted of children with CALs regressed who were matched with each CALs persisted case by gender and age at a ratio of 2:1. In the discovery set, serum MMPs and TIMPs were measured using a Quantibody^® Human MMP Array in febrile (before IVIG infusion) and defervescence phase (afebrile 48-72 h after initial treatment). Differential proteins between groups were identified by absolute logFC > 0.263 and adjust P value < 0.05. The findings were then validated in the independent validation set.</p><p><strong>Results: </strong>There were 8 (13.3%) KD children with CALs that persisted for 3 months in the discovery set, including 4 boys and 4 girls, with a median age of 3.00 years. In the febrile phase, there were no differences in MMPs and TIMPs between CALs persistence group and CALs regression group (P>0.05). After treatment, MMP-8 and MMP-9 decreased in both groups, while TIMP-1 was lower in CALs persistence group (P<0.05). Further validation study showed the same changes.</p><p><strong>Conclusions: </strong>MMPs and TIMPs have dynamic changes in children with CALs caused by KD. A low level of TIMP-1 after treatment may be related to CALs persistence, offering novel insights into the underlying mechanism.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"169"},"PeriodicalIF":3.2,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12131489/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144208520","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}