Italian Journal of Pediatrics最新文献

{"title":"A single-center study: three years of experience with whole-exome sequencing in diagnosing pediatric hematological disorders.","authors":"Shaimaa Salah, Amira Mobarak, Saleh Nouh Alshanbari, Asem A Bukhari, Fouzia Alsobhi, Sally Abdelazim Ali Farahat, Hassan Musa Masmali","doi":"10.1186/s13052-026-02268-9","DOIUrl":"10.1186/s13052-026-02268-9","url":null,"abstract":"<p><strong>Background: </strong>Blood disorders in children can present with a wide range of nonspecific symptoms, which may overlap with other conditions. Traditional diagnostic methods can sometimes struggle to identify the underlying cause. Whole-exome sequencing (WES)-is increasingly recognized as a valuable diagnostic tool, as early genetic diagnosis can offer clarity, enabling more personalized treatment approaches and improving prognostic accuracy.</p><p><strong>Methods: </strong>Between January 2022 and December 2024, 67 patients at the pediatric hematology department of Maternity and Children Hospital in Makkah, Saudi Arabia, underwent WES after conventional diagnostic methods failed to provide definitive diagnoses. We retrospectively analysed their results.</p><p><strong>Results: </strong>The study included 67 patients with an average age of 6.5 ± 4.6 years (range 0.1-18 years), 53% of whom were male. The majority (88%) were of Saudi descent. WES provided a molecular diagnosis for 49% (n = 33) of the patients, identifying pathogenic or likely pathogenic variants. In 11% (n = 8) of the patients, no variants were found, whereas 38% (n = 26) had variants of uncertain significance in phenotype-related genes. A nonhematological diagnosis was given to 28% of the patients.</p><p><strong>Conclusion: </strong>Whole-exome sequencing is a valuable tool for diagnosing challenging pediatric blood disorders. The findings also underscore its importance in identifying complex or multifactorial disorders.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13159219/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147863956","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":"Clinical outcomes of the 2022 AAP hyperbilirubinemia guideline in term and late-preterm infants: a prospective study in Thailand.","authors":"Natcha Lueangapapong, Benjaporn Srinithiwat, Patraporn Jangmeonwai, Tapanee Pipatkullachart, Jiratt Kongchalard, Phoom Phavichitr, Rattanaphan Chuabmee, Rinrada Piyawannakul, Jaedvara Thanakitcharu, Kanokwan Aeimcharnbanchong","doi":"10.1186/s13052-026-02276-9","DOIUrl":"10.1186/s13052-026-02276-9","url":null,"abstract":"<p><strong>Background: </strong>Neonatal jaundice is a common condition, occurring in approximately 80% of term infants during the first week of life. Timely diagnosis and management are essential to prevent bilirubin-induced neurological damage. In 2022, the American Academy of Pediatrics (AAP) updated its guideline for managing hyperbilirubinemia in infants ≥ 35 weeks' gestation, raising treatment thresholds and recommending individualized follow-up based on gestational age, neurotoxicity risk factors, and the bilirubin-treatment threshold difference. Evidence from low- and middle-income countries on the clinical impact of these guideline is limited.</p><p><strong>Methods: </strong>We conducted a prospective observational study at Panyananthaphikkhu Chonprathan Medical Center, Thailand, from February 2024 to January 2025, including 1,104 neonates ≥ 35 weeks' gestation. All infants underwent total serum bilirubin (TSB) screening within 72 h of birth and were managed according to the 2022 AAP guideline. Phototherapy rates, follow-up recommendations, readmissions, exchange transfusions, and cases of acute bilirubin encephalopathy were recorded. In addition, the infants' TSB values were retrospectively applied to the 2004 AAP guideline to assess eligibility for phototherapy. Among infants who did not receive phototherapy, TSB values were retrospectively applied to the Bahr 2021 nomogram to determine follow-up recommendations for comparison with management based on the 2022 AAP guideline.</p><p><strong>Results: </strong>Phototherapy was required in 221 infants (20.0%), representing a 38% relative reduction compared with the rate observed when the 2004 AAP guideline was retrospectively applied (32%; p < 0.001). Follow-up rates decreased from 56.9% under the Bahr 2021 nomogram to 52.7% under the 2022 guideline (absolute reduction, 4.3%; relative reduction, 7.5%; 95% CI, 5.91-9.03; p = 0.044). Readmission occurred in 127 infants (11.5%), most commonly due to suboptimal intake. No cases of acute bilirubin encephalopathy or exchange transfusion were reported.</p><p><strong>Conclusions: </strong>Implementation of the 2022 AAP guideline reduces phototherapy use and unnecessary follow-up visits without increasing adverse outcomes. With clearly structured follow-up schedules and close monitoring of infants at risk of developing severe jaundice, high-risk newborns can be managed effectively and safely. These findings support the applicability of the guideline in routine clinical practice, including in middle-income countries.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13325565/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147863935","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":"Efficacy and safety of non-pharmacological interventions for gastroesophageal reflux and gastroesophageal reflux disease in children: a systematic review.","authors":"Giuseppe Banderali, Chiara Mameli, Elena Bozzola, Vita Antonella Di Stefano, Luigi Greco, Carmine Pecoraro, Simone Rugolotto, Elena Scarpato, Sara Sollai, Francesca Vassallo, Elvira Verduci, Massimiliano Orso, Liliana Guadagni, Giovanni Corsello, Rino Agostiniani, Annamaria Staiano","doi":"10.1186/s13052-026-02264-z","DOIUrl":"10.1186/s13052-026-02264-z","url":null,"abstract":"<p><strong>Background: </strong>Gastroesophageal reflux (GER) and gastroesophageal reflux disease (GERD) are common in infants and children. Non-pharmacological approaches are widely used, but their efficacy and safety remain uncertain. This systematic review evaluates the current evidence on non-pharmacological interventions for pediatric GER and GERD.</p><p><strong>Methods: </strong>We conducted a systematic review following Cochrane methodology and PRISMA 2020 guidelines (PROSPERO: CRD420251041380). We included randomized controlled trials and systematic reviews of non-pharmacological interventions for GER or GERD in individuals aged 0-18 years. Eligible interventions included dietary modifications, positioning, alginates, probiotics, massage, and complementary therapies. Study selection, data extraction, and risk of bias assessment were performed in duplicate. Due to heterogeneity, meta-analyses were not conducted. Certainty of evidence was assessed using the GRADE approach.</p><p><strong>Results: </strong>We included 40 studies: 39 RCTs (15 crossover) and one systematic review. Most studies involved infants with uncomplicated GER or GERD. Interventions included dietary modifications (n = 25), probiotics (n = 3), alginates (n = 4), positioning (n = 6), and massage therapy (n = 2). Most trials reported regurgitation or Infant Gastro-Esophageal Reflux Questionnaire Revised as primary outcomes. Several interventions, especially thickened feeds, probiotics, alginates, and left lateral positioning, were associated with reduced regurgitation frequency. Risk of bias was frequently high, and GRADE certainty ranged from very low to moderate, depending on outcome and intervention type.</p><p><strong>Conclusions: </strong>Thickened formulas and alginates showed the most consistent symptom improvement in infants with GER or GERD, though overall evidence quality was low to moderate. Other interventions yielded mixed results. Non-pharmacological strategies appear generally safe, but further high-quality research is needed to support clinical decision-making.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13322008/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837860","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":"Global burden and time trends of vaccine-preventable diseases in children and adolescents.","authors":"Xingyi Jin, Rui Wang, Siying Tu, Chunyan Yuan, Fei Ge, Yong Liu, Shaokang Wang, Ying Ma, Guiju Sun","doi":"10.1186/s13052-026-02256-z","DOIUrl":"10.1186/s13052-026-02256-z","url":null,"abstract":"<p><strong>Background: </strong>Vaccine-preventable diseases (VPDs) are a major global health concern for children and adolescents. The COVID-19 pandemic further complicated VPDs prevention by halting vaccinations in many areas. This study aimed to analyze the global burden and trends of eight high - burden VPDs in 0 - 19 - year - olds from 1990 to 2021.</p><p><strong>Methods: </strong>Using data from the Global Burden of Disease 2021 database across 204 countries, incidence and DALYs were stratified by age, sex, and SDI. A linear regression model calculated AAPCs, and a joinpoint regression model identified a significant trend - change years. The SII and CII quantified SDI-related burden inequality.</p><p><strong>Results: </strong>From 1990 to 2021, global VPDs incidence and DALYs decreased. However, in 2021, there were still a large number of cases and DALYs. Hepatitis E DALYs rose, especially in males and infants. Males generally had a higher incidence of most VPDs. Lower SDI regions had heavier burdens, except for varicella and herpes zoster in high-SDI areas. The COVID-19 pandemic increased the incidence of some VPDs.</p><p><strong>Conclusions: </strong>Despite progress in VPDs control, gaps in vaccination, socioeconomic inequalities, and new threats like hepatitis E remain. Targeted actions such as perinatal immunization, hepatitis E vaccination in endemic areas, and restoring pandemic-affected health systems are needed to achieve global health equity.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13289554/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837919","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":"Therapeutic hypothermia in newborns: evidence-based guidelines from a systematic review.","authors":"Gina Ancora, Francesca Gallini, Monica Fumagalli, Gilda Cassano, Vittoria Paoletti, Massimiliano De Vivo, Gianluca Visintin, Domenico Marco Romeo, Lucrezia De Cosmo, Isotta Guidotti, Katia Rossi, Ida Sirgiovanni, Fabrizio Ferrari, Alessandro Scoppa, Maria Vendemmia, Luca Bedetti, Licia Lugli, Luca Ramenghi, Massimo Agosti, Luigi Orfeo, Fabio Mosca, Fabio Facchinetti, Roberto Bellù, Irene Cetin, Enrico Cocchi","doi":"10.1186/s13052-026-02266-x","DOIUrl":"10.1186/s13052-026-02266-x","url":null,"abstract":"<p><p>Hypoxic-ischemic encephalopathy represents a major cause of neonatal mortality and long-term neurodevelopmental impairment. Therapeutic hypothermia has become the standard of care, significantly improving survival and outcomes. Nevertheless, its clinical implementation often lacks a standardized operational framework to ensure consistent efficacy and safety. The present work aimed to develop GRADE-based operational guidelines for therapeutic hypothermia, offering neonatologists a structured approach for identifying, treating, and monitoring newborns throughout the procedure. A panel of experts appointed by the Italian Society of Neonatology conducted a systematic review (PROSPERO registration CRD420250651303) of randomized controlled trials evaluating the effects of therapeutic hypothermia on neurodevelopmental outcomes. Literature searches were performed across Medline, Cochrane, Scopus, Embase, and Web of Knowledge databases, and studies were assessed using the Cochrane Risk-of-Bias 2 tool. Recommendations were formulated through consensus meetings following GRADE methodology and subsequently validated by an external multidisciplinary panel. Eight randomized controlled trials, encompassing a total of 1,843 newborns, met the inclusion criteria. Based on a comprehensive evaluation of study indications, characteristics, and outcomes, evidence-based recommendations were established. The risk-of-bias assessment revealed an even distribution between studies categorized as low and moderate risk. The resulting guidelines present a structured protocol covering all phases of therapeutic hypothermia - timing, clinical setting, management, and follow-up - and include proposals for expanding its application. To facilitate clinical implementation, the guidelines are accompanied by summary tables, graphical flowcharts, and algorithms designed for immediate use in neonatal intensive care settings. The GRADE-based recommendations presented here, now adopted as the Italian national clinical guidelines for therapeutic hypothermia in newborns, provide an evidence-driven and standardized framework to optimize neonatal care. These guidelines are intended to support daily clinical decision-making and will undergo periodic updates to incorporate emerging evidence and maintain their clinical relevance.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13255436/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147771633","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":"Evidence-based clinical recommendations on the use of telemedicine for the management of children, adolescents and young adults with moderate-severe asthma.","authors":"Giulia Brigadoi, Daniele Donà, Giovanni Boscarino, Marco Masetti, Rachele Antignani, Elisa Barbieri, Elisabetta Bignamini, Beatrice Campana, Fabio Capello, Loretta Carturan, Alessia Ciardelli, Alessia Colombo, Renato Cutrera, Dario Galante, Antonio Guarini, Emanuela Malorgio, Anna Mandelli, Anna Maria Moretti, Niccolò Parri, Sara Sablone, Nora Terrasini, Mariangela Tosca, Stefania La Grutta, Susanna Esposito","doi":"10.1186/s13052-026-02219-4","DOIUrl":"10.1186/s13052-026-02219-4","url":null,"abstract":"<p><p>BACKGROUND: Asthma is among the most common chronic childhood diseases, with inadequate control leading to substantial morbidity, impaired quality of life, and high healthcare costs. Although severe asthma affects only around 10% of pediatric patients, this subgroup bears a disproportionate share of the clinical and economic burden. Long-term disease control relies on regular monitoring and education, yet traditional follow-up in specialist outpatient clinics may not be sufficient. Advances in telemedicine and digital health offer new opportunities for remote monitoring, treatment adherence assessment, and patient education, but evidence for their use in moderate-to-severe pediatric asthma remains fragmented. METHODS: We systematically reviewed evidence on telemedicine and innovative technologies for moderate-to-severe asthma in children, adolescents, and young adults. Using GRADE, we assessed study quality and synthesized findings. A multidisciplinary panel applied a structured consensus process to develop tailored recommendations, considering evidence strength, feasibility, equity, resources, and patient preferences. RESULTS: Of the 27,551 records retrieved, 55 studies met the inclusion criteria (38 randomized controlled trials, 17 observational). Despite substantial heterogeneity in design, populations, and interventions, digital health tools—such as smartphone applications, online platforms, and remote monitoring devices—were generally feasible, well accepted, and often linked to improved quality of life, symptom control, treatment adherence, and reduced exacerbations and hospitalizations. Effects on pulmonary function were inconsistent. Increased healthcare contacts reported in some studies were interpreted by experts as earlier exacerbation recognition rather than clinical deterioration. Educational interventions via digital platforms were strongly valued by the panel, despite low-quality supporting evidence. Overall, evidence quality was limited by methodological weaknesses, varying outcome definitions, and heterogeneity in telemedicine tools, precluding meta-analysis. Sustainability challenges included costs, device access, provider workload, and the need for robust community-based care networks. Key barriers were unequal digital access, limited provider training, poor interoperability, and privacy concerns. CONCLUSION: Telemedicine may enhance adherence, empower self-management, and enable early detection of deterioration in moderate-to-severe pediatric asthma. Conditional recommendations were made for its use, particularly during exacerbations. Future high-quality studies with standardized outcomes, long-term follow-up, and economic analyses are needed to strengthen the evidence base and guide sustainable implementation. </p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13267218/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147771646","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":"Inter-society consensus on the management of acute bloody diarrhea and shiga toxin-producing Escherichia coli infection in the molecular microbiology era.","authors":"Gianluigi Ardissino, Rino Agostiniani, Simone Vasilij Benatti, Silvia Bonardi, Milena Brasca, Maurizio Brigotti, Annapaola Callegaro, Francesca Centrone, Maria Chironna, Pierangelo Clerici, Laura Daprai, Letizia Dato, Giulia Debertolis, Lucia Decastelli, Lidia Decembrino, Luca De Nicola, Giuseppe Di Mauro, Federica Folli, Liliana Gabrielli, Alessandra Gazzola, Edoardo La Porta, Marina Nadia Losio, Andrea Lo Vecchio, Mario Luini, Chiara Francesca Magistrali, Maria Cristina Mancuso, Carmelita Marcantoni, Stefano Morabito, Giangiacomo Nicolini, Lorenzo Norsa, Andrea Pasini, Claudia Picozzi, Nicola Principi, Claudio Romano, Maria Lorena Ruzza, Stefania Zampogna","doi":"10.1186/s13052-026-02265-y","DOIUrl":"10.1186/s13052-026-02265-y","url":null,"abstract":"<p><p>Hemolytic uremic syndrome associated with Shiga toxin-producing Escherichia coli (STEC-HUS) infection is a major individual and public health challenge, and the leading cause of acute kidney injury in children. In Western countries, HUS complicates about 15% of STEC infections, which are responsible for acute bloody diarrhea (ABD) in at least 6–7% of cases in children (rising to over 15% during late summer). The widespread use of molecular microbiology techniques enables the diagnosis of STEC infection before HUS onset in an increasing number of patients, creating a potential window of preventive and therapeutic opportunities. Given the rapid progression of the disease, all children with ABD should be tested for Shiga toxin (Stx) encoding genes as early as possible. Stx-positive patients should then be closely monitored for HUS development by urine dipstick, to detect hemoglobinuria.This proactive diagnostic approach creates the opportunity to anticipate the application of measures that have already been proven to mitigate the severity of HUS, among which stands the early and generous fluid administration, but most importantly opens a window to explore preventive and therapeutic interventions. In detail, even though antibiotics are not historically recommended in STEC infections, recent data suggest a promising potential preventive role for bacteriostatic agents (e.g., azithromycin) during the initial stages of the infection.The aim of the present contribution is to share this approach to ABD and STEC infection as endorsed by the Italian scientific societies actively engaged in this area (AMCLI, SIGENP, SIMEUP, SIN, SIP, SIPPS, SITIP) through an intersocietal consensus. The goal is to promote the early diagnosis of STEC infection nationwide, thereby improving our understanding of the mechanisms of disease spreading, and hopefully reduce the rate of progression to HUS, its case fatality rate and possibly improve both short- and long-term outcomes.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13270685/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147771622","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":"Clinical characteristics and genetic analysis of patients with SCN1A gene pathological variant-related disorders: a single-center retrospective study.","authors":"Mingying He, Xiaohui Min, Juxia Shu, Bing Wu, Hongdan Qi, Xin Wang, Gang Zhang","doi":"10.1186/s13052-026-02269-8","DOIUrl":"10.1186/s13052-026-02269-8","url":null,"abstract":"<p><p>BACKGROUND: SCN1A Gene pathological variants can lead to a spectrum of epilepsy phenotypes ranging from mild genetic epilepsy with febrile seizures plus (GEFS+) to severe Dravet syndrome (DS). As most pathological variants are de novo variants, early prediction of phenotypes and prognosis is challenging, and the genotype-phenotype correlation remains unclear. METHOD: We retrospectively analyzed the clinical and genetic data of 50 children with SCN1A variant-related epilepsy to explore the relationship between variant characteristics (location, in silico prediction scores), seizure characteristics, and phenotypes. RESULTS: This study included 50 children with SCN1A variant-related epilepsy, among whom 86.0% (43/50) had onset before the age of 1, 86.0% (43/50) exhibited fever sensitivity, and 68.0% (34/50) were accompanied by developmental delay; 36.0% (18/50) experienced status epilepticus(SE), 56.0% (28/50) had cluster seizures, and 48.0% (24/50) showed abnormal electroencephalogram(EEG) within one year of onset. Genetic analysis revealed that missense mutations accounted for 62.0% (31/50), with 78.0% (39/50) being de novo variants, and 24 previously unreported pathogenic variants were identified. The DS group (16 cases) had a significantly higher incidence of SE compared to the non-DS group (P = 0.041), while the non-DS group had a higher proportion of missense mutations (P = 0.014). Variant region analysis indicated that N-terminal variants were strongly associated with SE, and variants in the S2-S3/S3-S4 regions were prone to causing EEG abnormalities. In terms of treatment, the ketogenic diet was effective in 80.0% (4/5) of the children, while sodium channel blockers exacerbated seizures in 66.6% (4/6) of the children. CONCLUSION: The genotype-phenotype correlation in SCN1A-related epilepsy is crucial for early diagnosis and management: missense mutations are more prevalent in non-DS phenotypes, while DS phenotypes carry a higher risk of SE. Previously unreported variant sites expand the genetic spectrum. Ketogenic diet (KD) may be an effective treatment option, and the use of Sodium channel blocker(SCB) requires caution. </p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13255321/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147771556","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":"Clinical, demographic and genetic features of pediatric limb-girdle muscular dystrophy in the Çukurova region.","authors":"Duygu Güner Özcanyüz, Gülen GüL Mert, Neslihan Özcan, Serap Bilge, Faruk İncecik, Suzan Zorludemir, Sevcan Tuğ Bozdoğan, Mihriban Özlem Hergüner","doi":"10.1186/s13052-026-02270-1","DOIUrl":"10.1186/s13052-026-02270-1","url":null,"abstract":"<p><p>BACKGROUND: Limb Girdle Muscular Dystrophy (LGMD) is a heterogeneous group of muscle diseases that are common in childhood. This study aimed to determine the clinical, histopathological, genetic features characteristics of among pediatric patients with LGMD in the Çukurova region and to identify disease subgroups. METHODS: This study aimed to identify disease subgroups in the Çukurova region through a retrospective review of patients with LGMD, given differences in clinical indicators that can be used for early diagnosis and disease course as well as regional variations. Frequency and descriptive analyses were performed using SPSS 21 for Windows (IBM Corp., Armonk, NY, USA). RESULTS: The most common type identified at our center was LGMD2A-R1 (51.6%). The other types were LGMD2F-R6, LGMD2D-R3 and LGMD2C-R5, in order of frequency. Among these subtypes, the earliest age of onset and diagnosis as well as the highest creatine kinase values, were observed in the LGMD2C-R5 group. Respiratory failure was notably frequent in patients with LGMD2F-R6. Early ambulation loss was detected in patients with LGMD2F-R6 and LGMD2D-R3. Muscle biopsy was performed on 9 of the 16 patients with calpainopathy and 12 of the 15 patients with sarcoglycanopathy. The diagnosis of LGMD was confirmed by genetic testing in 25 of 31 patients. Previously unidentified 3 new mutations were detected in 4 patients. CONCLUSIONS: Early diagnosis and determination of LGMD subgroups are important for the investigation of targeted treatment options and the provision of genetic counseling in the future. </p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13255415/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147771558","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":"COVID-19 infection is associated with anti-M alloantibody development in pediatric patients: immunological characteristics and clinical implications for transfusion safety.","authors":"Ming-Wei Yin, Xue-Qi Peng, Ji-Hua Ma, Gui-Zhen Jiang, Ning Zhao, Xin-Yu Huang, Si Shi, Xue-Jun Chen","doi":"10.1186/s13052-026-02258-x","DOIUrl":"10.1186/s13052-026-02258-x","url":null,"abstract":"<p><p>BACKGROUND: Anti-M antibodies are commonly observed as naturally occurring antibodies in the MNS blood group system, and their production has been linked to various microbial infections through molecular mimicry. However, the association between COVID-19 infection and anti-M antibody development in pediatric patients remains unexplored. METHODS: This retrospective matched case-control study included 31 anti-M positive pediatric patients and 31 matched anti-M negative controls with NN phenotype from October 2022 to May 2025. Anti-M isotypes (IgM/IgG) were distinguished using saline and dithiothreitol-preserved plasma methods, followed by titer determination and IgG subclass analysis. Plasma cytokines were quantified by flow cytometry. COVID-19 infection history within 2 years was recorded. RESULTS: Anti-M positive patients had significantly higher COVID-19 infection rates than controls (54.84% vs. 19.35%, OR = 5.06, P = 0.008); this association remained significant after adjustment for age and sex (adjusted OR = 5.35, 95% CI: 1.67–17.17, P = 0.005). Among those with IgG antibodies, anti-M IgG titers inversely correlated with the interval since COVID-19 infection (r = -0.63, P = 0.008). Reactive IgG (IgG1/IgG3) exhibited significantly higher titers than inactive IgG (median 64 vs. 4, P < 0.001), with all high-titer cases (≥ 64) exclusively in the reactive group (11/31, 35.48%). Anti-M positive patients showed elevated IL-8 (P = 0.006) and IL-12p70 (P = 0.029), and unexpectedly lower bilirubin levels (P < 0.01), suggesting metabolic adaptation rather than hemolysis. CONCLUSION: COVID-19 infection is significantly associated with anti-M alloantibody development in NN-phenotype children, with over one-third reaching clinically significant titers. These findings suggest that enhanced antibody screening should be considered for pediatric transfusion candidates with recent viral infections, although the single-center design with modest sample size (31 pairs) warrants multi-center validation. </p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13255407/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147771637","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}