Italian Journal of Pediatrics最新文献

{"title":"The utilization of the multimodal immunotherapy for the opsoclonus-myoclonus syndrome can reduce relapses and permanent neurological sequelae.","authors":"Fang He, Miriam Kessi, Ciliu Zhang, Jing Peng, Fei Yin, Lifen Yang","doi":"10.1186/s13052-025-01875-2","DOIUrl":"10.1186/s13052-025-01875-2","url":null,"abstract":"<p><strong>Background: </strong>There is no known effective treatment strategy to prevent relapses and avert permanent neurological sequelae in opsoclonus-myoclonus syndrome (OMS). To describe the treatment strategy that reduced relapses and led to remission of OMS without permanent neurological sequelae.</p><p><strong>Methods: </strong>This cross-sectional study was conducted at the Department of Pediatrics, Xiangya Hospital, Central South University. Patients diagnosed with OMS from January 2014 to July 2022 were enrolled. Exposures included treatment with multimodal immunotherapy. Main outcomes and measures included the OMS severity grading scale and DQ/IQ scores. The clinical data was collected and analysed.</p><p><strong>Results: </strong>Of the six recruited patients, three were (50.00%) males. The median age of onset was 15.50 months. Preceding manifestation was present in one patient and two cases had neuroblastoma. The mean duration from disease onset to the initiation of therapies was 1.86 months. The combinations of ≥ two therapies were used: combination of the intravenous immunoglobulin (IVIG) plus intravenous dexamethasone plus rituximab was used for three (50.00%) patients and the combination of the IVIG plus intravenous dexamethasone plus rituximab plus mycophenolate mofetil for one (16.67%) case. Besides, the combination of the intravenous methylprednisolone (IVMP, which was switched to intravenous dexamethasone later) plus rituximab was utilized for one (16.67%) case and the combination of the IVIG and IVMP for one (16.67%) patient. Total numbers of the therapies used comprised of dual therapy (33.33%), triple therapy (50.00%), and other multiple agents (16.67%). Besides, surgical resections were done for the cases with tumors. The disease course was monophasic for five cases and five cases achieved remission. OMS scores improved significantly at the end of follow up. Five (83.33%) patients did not have permanent neurological sequelae.</p><p><strong>Conclusions: </strong>The combination of the intravenous dexamethasone plus IVIG plus rituximab for the OMS can reduce relapses and permanent neurological sequelae.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"33"},"PeriodicalIF":3.2,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11806606/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143370221","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":"Incidence and predictors of respiratory tract infections among birth cohorts in Ethiopia, 2023.","authors":"Fekade Demeke Bayou, Mastewal Arefaynie, Anissa Mohammed, Abiyu Abadi Tareke, Awoke Keleb, Natnael Kebede, Yawkal Tsega, Bayu Hailemariam Mersha, Abel Endawkie, Shimels Derso Kebede, Kaleab Mesfin Abera, Eyob Tilahun Abeje, Ermias Bekele Enyew, Chala Daba, Lakew Asmare","doi":"10.1186/s13052-025-01838-7","DOIUrl":"10.1186/s13052-025-01838-7","url":null,"abstract":"<p><strong>Background: </strong>Respiratory tract infection (RTI) has been a predominant health problem worldwide, including Ethiopia. It is one of the major causes of under-five mortality in Ethiopia, accountable for 18% of total deaths. Nationwide studies on the incidence of respiratory infections and maternal risk factors are limited. Hence, this study was aimed to determine the incidence and predictors of respiratory infections among infants aged less than six months in Ethiopia, 2023.</p><p><strong>Methods: </strong>This was a retrospective follow up study using data from Performance Monitoring for Action Ethiopia (PMA Ethiopia). A two-stage cluster sampling technique was used to select a total 2,246 eligible study participants from 206 enumeration areas. A Cox proportional hazards regression model was used to identify independent predictors of respiratory tract infection incidence. Hazard ratios with 95% confidence intervals and p value < 0.05 were used to declare statically significant associations between variables.</p><p><strong>Results: </strong>The incidence rate of respiratory tract infections among birth cohorts was 22.99 per 1000 infant weeks of observation. Infants born from mothers who sustained convulsion during labor had nearly doubled [AHR = 1.65, 95%CI (1.20, 2.28)] hazard or risk of developing respiratory tract infections than their counterparts. Similarly, infants born from mothers having prolonged labor (more than 12 h) had one and half times [AHR = 1.48, 95%CI (1.13, 1.93)] increased risk of developing respiratory tract infections as compared to their counterparts.</p><p><strong>Conclusion: </strong>The incidence of respiratory tract infections is a significant public health concern in Ethiopia. Infants born to mothers with prolonged labor and convulsions need closer monitoring for early signs of respiratory tract infections.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"32"},"PeriodicalIF":3.2,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11806740/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143370527","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":"Drug response is related to NR3C1 and FAAH polymorphism in Chinese pediatric epilepsy patients.","authors":"Hongli Wang, Chu Li, Qian Li, Ning Li, Huiling Qin","doi":"10.1186/s13052-025-01870-7","DOIUrl":"10.1186/s13052-025-01870-7","url":null,"abstract":"<p><strong>Background: </strong>Childhood epilepsy is a common neurological syndrome with complex etiology and recurrent seizures. It seriously affects the growth and development of child patients.</p><p><strong>Methods: </strong>NR3C1 rs41423247 and FAAH rs324420 polymorphisms were detected by the polymerase chain reaction in 105 pediatric epilepsy patients. Patients were divided into the good response group and the poor response group after anti-seizure medications (ASMs) treatment. According to the results of the liver function test (LFT), patients were divided into the no LFT disturbance group and the LFT disturbance group. Hardy-Weinberg balance was applied to analyze the population representation. The correlations were calculated by logistic regression analysis.</p><p><strong>Results: </strong>NR3C1 rs41423247 genotype and allele frequencies differed significantly between good response and poor response groups, while FAAH rs324420 did not. The CG genotype and C allele of NR3C1 rs41423247 were associated with good drug response, and the association was also detected in the dominant model. In addition, polymorphisms in NR3C1 and FAAH were not associated with liver damage induced by epilepsy medication.</p><p><strong>Conclusion: </strong>The polymorphism of NR3C1 rs41423247 might influence the drug response of epilepsy children.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"28"},"PeriodicalIF":3.2,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11803932/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143370597","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":"Modeling and scientific analysis of pediatric medication evaluation based on MDM-DEA-Malmquist model: construction of health management in pediatrics in developing countries.","authors":"Kaixian Fang, Shaoqin Xue","doi":"10.1186/s13052-025-01893-0","DOIUrl":"10.1186/s13052-025-01893-0","url":null,"abstract":"<p><strong>Background: </strong>The developing countries represented by China have huge population potential and child population. However, due to economic and social development constraints, pediatrics need help regarding resources and technology. The level of pediatric medical care remains inadequate.</p><p><strong>Methods: </strong>This article constructs an MDM matrix framework for the pediatric medical nursing level. Combining the lean model theory, the key indicators of children's medical care are analyzed. Thus, it helps medical institutions scientifically evaluate and guide pediatric nursing. Based on the linkage extension of the MDM model and the DEA-Malmquist model, an evaluation system was established to reflect the current situation of pediatric drug use in China. The study used provincial indicator data on pediatric medication in China from 2015 to 2021.</p><p><strong>Results: </strong>We found that indicators such as physician literacy, health records, child status, and parental awareness were the most important under different medication cycles and goals. The importance of pre-administration evaluation was as high as 53.5%, and the importance of post-administration evaluation was only 13.7%. The efficacy of pediatric medication in developed provinces was significantly optimized. The input-output structure of pediatric medication in superior provinces was consistent with the feedback sequence of the MDM matrix.</p><p><strong>Conclusions: </strong>This indicates that the evaluation results of the MDM matrix have guiding significance for optimizing pediatric medication efficacy. This paper aims to help developing countries establish an optimized pediatric medication evaluation system and improve the pediatric healthcare environment.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"29"},"PeriodicalIF":3.2,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11806530/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143370534","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":"Identification of Houge type of X-linked syndromic mental retardation caused by CNKSR2 truncated variants.","authors":"Si-Hua Chang, Jie-Yuan Jin, Yi-Qiao Hu, Run-Yan Wang, Rong Xiang, Xia Wang","doi":"10.1186/s13052-025-01877-0","DOIUrl":"10.1186/s13052-025-01877-0","url":null,"abstract":"<p><strong>Background: </strong>Houge type of X-linked syndromic mental retardation (MRXSHG) is a type of X-linked condition which is mainly manifested as delayed development, mental retardation, epilepsy that begins at an early age, and delayed language acquisition. MRXSHG is a serious disorder with CNKSR2 variant and at least 34 variants have been identified in MRXSHG patients. However, the genotype-phenotype correlation and variants characteristics of CNKSR2 need further investigation and improvement.</p><p><strong>Methods: </strong>Two Chinese MRXSHG families were recruited, and their genetic causes were investigated using whole-exome sequencing (WES), Sanger sequencing, and bioinformatics analysis. To verify the impact of these variants, we used real-time PCR and minigenes consisting of exon 14, intron 14, and exon 15 from both the wild-type and the c.1658-3_1676del DNA sequences.</p><p><strong>Results: </strong>In this study, we reported two Chinese boys with MRXSHG and described some rare MRXSHG phenotypes, such as delayed bone age, slightly widened right fissure, and an underdeveloped right temporal lobe, characterized by reduced growth and volume compared to typical development. Two novel variants in CNKSR2 (c.1658-3_1676del and c.1102G > T, p.Gly368*) were identified in these cases. Minigenes results revealed that variant c.1658-3_1676del produced an aberrant spliceosome assembly.</p><p><strong>Conclusions: </strong>We identified two novel CNKSR2 variants in MRXSHG families, expanding the variant spectrum of CNKSR2, enriching MRXSHG-related phenotypes, and contributing to genetic counseling for MRXSHG patients.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"31"},"PeriodicalIF":3.2,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11806549/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143370524","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 effect of GM-CSF and predictors of treatment outcome in pediatric septic shock patients.","authors":"Zhen-Hao Yu, Gui-Xiang Tian, Yao-Dong Wang, Ting-Yan Liu, Peng Shi, Jia-Yun Ying, Wei-Ming Chen, Yu-Feng Zhou, Guo-Ping Lu, Cai-Yan Zhang","doi":"10.1186/s13052-025-01863-6","DOIUrl":"10.1186/s13052-025-01863-6","url":null,"abstract":"<p><strong>Background: </strong>Pediatric septic shock is a critical condition associated with high mortality rates, largely due to sepsis-induced immunosuppression. Granulocyte-macrophage colony-stimulating factor (GM-CSF) has been explored as a therapeutic intervention to counteract this immunosuppression. Despite its potential, the efficacy of GM-CSF in pediatric septic shock has not been clearly established. This study aims to investigate the impact of GM-CSF administration on survival rates and to identify key predictors of treatment outcomes in pediatric septic shock patients.</p><p><strong>Methods: </strong>We conducted a retrospective cohort study at the Pediatric Intensive Care Unit (PICU) of Children's Hospital of Fudan University, Shanghai, from January 1, 2019, to December 31, 2023. The study included pediatric patients diagnosed with septic shock, analyzing their demographic data, GM-CSF and adjunctive therapies, laboratory results, and clinical outcomes. We employed univariate and multivariate logistic regression models to assess the influence of GM-CSF on 28-day mortality and identify significant predictors of treatment outcomes.</p><p><strong>Results: </strong>The study included 200 pediatric patients, with 66 receiving GM-CSF treatment and 134 not treated with GM-CSF. The initial comparison showed a higher 28-day mortality in the GM-CSF group (59.1%) compared to the non-GM-CSF group (35.1%, P = 0.001). Notably, after adjustment for confounding factors, multivariate analysis revealed that the effect of GM-CSF treatment on 28-day mortality among pediatric septic shock patients did not reach statistical significance, with an odds ratio (OR) of 0.472 and a 95% confidence interval (CI) ranging from 0.153 to 1.457 (P = 0.192). However, the analysis indicated a potential trend suggesting that GM-CSF treatment may contribute to a reduction in 28-day mortality. In addition, significant predictors of treatment outcomes included hematopoietic stem cell transplantation (HSCT), lactic acid (LAC) levels, hospital-acquired septic shock (HASS), red blood cell (RBC) count, and platelet (PLT) count.</p><p><strong>Conclusions: </strong>GM-CSF treatment may benefit pediatric septic shock patients, especially those with higher lactic acid, and lower RBC and platelet counts. These factors, which are significant predictors of outcomes, should be monitored during therapy.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"25"},"PeriodicalIF":3.2,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11792208/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143122578","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":"Learn from international recommendations and experiences of countries that have successfully implemented monoclonal antibody prophylaxis for prevention of RSV infection.","authors":"Sara Manti, Eugenio Baraldi","doi":"10.1186/s13052-025-01844-9","DOIUrl":"10.1186/s13052-025-01844-9","url":null,"abstract":"<p><p>Respiratory syncytial virus (RSV)-mediated bronchiolitis causes a significant global health burden. Despite this, for several years, the only approved agent for RSV prophylaxis was the anti-RSV monoclonal antibody Palivizumab, reserved for a small population of infants at high risk of developing severe RSV disease. Recently, the availability and approval of nirsevimab to immunize all infants against RSV infection since their first RSV season represented a crucial paradigm shift in RSV prevention. Nirsevimab has been shown to be safe and effective (> 80%) against RSV lower respiratory tract infections (LRTIs) in all infants and children at their first season of RSV. Surveillance studies have demonstrated 90% effectiveness in reducing all-cause hospitalizations, all-cause LRTI hospitalizations, RSV-related LRTI hospitalizations, and severe RSV-related LRTIs. Moreover, the consistency and reproducibility of the beneficial outcomes coming from the prophylaxis with nirsevimab highlights its potential to deliver substantial health benefits, positioning monoclonal antibody administration as a cornerstone in the fight against RSV-related morbidity and mortality. Implementing immunization strategies for infants and children is crucial to align the international experiences and guarantee universal protection. This review provided an updated overview of the monoclonal antibody strategy for preventing RSV infection.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"26"},"PeriodicalIF":3.2,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11796128/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143189155","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":"Characteristics of plastic bronchitis in children with infectious pneumonia.","authors":"Xulong Cai, Mali Lin, Li Zhou, Wencai Sheng, Wanyan Jiao, Hongliang Bian, Tongjin Yin","doi":"10.1186/s13052-025-01873-4","DOIUrl":"10.1186/s13052-025-01873-4","url":null,"abstract":"<p><strong>Background: </strong>Multiple studies have reported that infectious pneumonia can induce the production of plastic casts, which threatens children's health. We explored the characteristics of plastic bronchitis (PB) in clinical practice by analysing clinical medical records.</p><p><strong>Methods: </strong>A retrospective study was conducted. Children with pneumonia and large chest shadows were included in this study. The differences in characteristics between patients with plastic bronchitis and those without plastic bronchitis were analysed. The distribution of pathogens was statistically analysed. Grouping analysis based on PB and pathogen conditions was also conducted.</p><p><strong>Results: </strong>A total of 185 patients were included in this study. The patients were divided into two groups: the PB group (n = 48) and the non-PB group (n = 137). The duration of illness before hospitalization in the PB group was mostly longer than that in the non-PB group. The frequency distribution of the inspiratory three concave signs in the PB group was significantly greater than that in the non-PB group. Compared with those in the non-PB group, the number of patients with abnormally elevated of D-D dimer, LDH, ALT, and AST in the PB group was significantly greater. Mycoplasma pneumoniae (MP) was the main pathogen observed in both the PB and non-PB groups. In cases of MP infection without plastic bronchitis, treatment with macrolide antibiotics occurred significantly earlier. Most cases of pleural effusion in the PB-MP group were discovered more than 7 days after onset. However, in the PB-nonMP group, most cases of pleural effusion were detected within 7 days of onset. There was a difference observed in the distribution of pulmonary necrosis between the PB group and the non-PB group.</p><p><strong>Conclusions: </strong>MP is a common pathogen observed in PB cases caused by single-pathogen infections and multiple-pathogen infections. PB may be a potential cause of pulmonary necrosis. Furthermore, PB exhibits diverse clinical manifestations due to host and pathogen factors.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"24"},"PeriodicalIF":3.2,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11792700/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143122096","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":"Effectiveness of a training program for the acquisition of motor milestones in infants: a randomized clinical trial.","authors":"Luis Fernández-Sola, Beatriz Cano-Díez, Yessica Pons-Solaz, Begoña Vera-Egido, Sergio Moreno-González","doi":"10.1186/s13052-025-01849-4","DOIUrl":"10.1186/s13052-025-01849-4","url":null,"abstract":"<p><strong>Background: </strong>In infants, the acquisition of all motor milestones is considered an expression of correct motor development during the first months of life. An association between typical motor development of the newborn and cognitive areas has been established. Few studies have evaluated the efficiency of parents' knowledge of expected milestones in healthy infants. This study aims to determine whether parents' knowledge of specific tasks can improve the achievement of all gross motor milestones in the newborn.</p><p><strong>Method: </strong>The current study examined gross motor development in term-born infants without pathologies at 9, 12, and 15 months and the effectiveness of a training program developed for parents. The research group comprised 82 full-term infants divided into an experimental group (EG) and a control group (CG) of 41 subjects each. A randomized clinical trial study was performed. The routine follow-up program consisted of four informative sessions on the experimental group at the beginning of each trimester with information about the expected motor milestones and how to stimulate their infants to achieve them. The gross motor development of the participants was measured using the Alberta Infant Motor Scale. An ANCOVA test was performed to assess the possible influence of sex, type of birth, or the presence of siblings controlled and uncontrolled as confounding variables on the results.</p><p><strong>Results: </strong>The initial baseline assessment showed no statistical differences between groups (p > 0,05). After controlling confounding variables, at 9 months the EG scored 5,5 points higher than the CG (p < 0,001). At 12 months, EG scored 3,7 points higher than CG (p < 0,001). At 15 months, EG scored 2,2 points higher than CG (p = 0,001). The experimental group scored significantly higher, with a 25-point higher percentile in each assessment.</p><p><strong>Conclusion: </strong>A learning program aimed at increasing parents' knowledge of their infant´s gross motor development improved it. The information collected will help professionals who support parents in monitoring their babies. Future studies using larger sample sizes, analysing other domains of global infant development, or investigating the possible influence of other parental factors are recommended.</p><p><strong>Trial registration: </strong>ClinicalTrials.gov ID NCT04693494. Registered December 28, 2020, retrospectively registered. https://clinicaltrials.gov/study/NCT04693494 .</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"23"},"PeriodicalIF":3.2,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11786511/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143074763","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":"A child with Chronic Nonbacterial Osteomyelitis and celiac disease: accidental association or two different aspects of the same condition?","authors":"Grazia Bossi, Maria Sole Prevedoni Gorone, Luca Lungarotti, Francesco Pelillo, Amelia Mascolo, Matteo Naso, Daniele Veraldi, Francesca Olivero, Costanza Chirico, Maria Vittoria Marino, Cristina Dutto, Gian Luigi Marseglia","doi":"10.1186/s13052-025-01842-x","DOIUrl":"10.1186/s13052-025-01842-x","url":null,"abstract":"<p><strong>Background: </strong>Chronic Nonbacterial Osteomyelitis (CNO) is a rare auto-inflammatory disease that mainly affects children, and manifests with single or multiple painful bone lesions. Due to the lack of specific laboratory markers, CNO diagnosis is a matter of exclusion from different conditions, first and foremost bacterial osteomyelitis and malignancies. Whole Body Magnetic Resonance (WBMR) and bone biopsy are the gold standard for the diagnosis. Although the association with Inflammatory Bowel Disease (IBD) has been reported in the literature, cases of CNO in celiac patients have never been described before.</p><p><strong>Case presentation: </strong>We report about a girl of 3 years and 8 months of age who presented with severe bone pain, slight increase of inflammatory markers, micro-hematuria and high calprotectin values. Her personal medical history was uneventful, apart from low weight growth. She had never complained of abdominal pain or other gastro-intestinal symptoms. WBMR showed the classical features of multifocal CNO, and biopsy confirmed the diagnosis. Celiac disease (CD) was suspected on the basis of antibody screening, and confirmed by gut biopsy. With gluten-free diet the patient achieved rapid and complete symptom remission together with healing of all the bone lesions proven by WBMR. Three years after the onset of the disease the girl is healthy and totally asymptomatic, still on clinical and radiological follow-up.</p><p><strong>Conclusions: </strong>Based on our experience, the diagnostic work-up of new cases of CNO should include the screening test for CD and, according to the literature, the possibility of IBD should also be properly ruled out. When CNO and CD coexist, gluten-free diet, combined with antinflammatory therapy, could be able to completely reverse bone lesions, shortening the duration of medical treatment. Because the diseases' onset is seldom simultaneous, patients with CNO and IBD deserve a properly extended follow-up. Finally, the analysis of the relationship between CNO and autoimmune intestinal diseases provides a unique opportunity to understand the pathophysiological pro-inflammatory network underlying both types of disorders and it is necessary to make the most suitable therapeutic choice.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"22"},"PeriodicalIF":3.2,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11783928/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143065557","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}