Italian Journal of Pediatrics最新文献

{"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}

{"title":"Avascular necrosis in pediatric rheumatic diseases: an Italian retrospective multicentre study.","authors":"Ivan Taietti, Federico Zini, Emilio Amleto Conti, Enrica Cristini, Irene Borzani, Giulia Ramponi, Claudia Bracaglia, Raffaele Pecoraro, Riccardo Papa, Jessica Tibaldi, Serena Pastore, Gabriele Simonini, Marco Cattalini, Antonella Meini, Achille Marino, Stefano Lanni, Francesca Minoia, Giovanni Filocamo","doi":"10.1186/s13052-025-01845-8","DOIUrl":"10.1186/s13052-025-01845-8","url":null,"abstract":"<p><strong>Background: </strong>Atraumatic avascular necrosis (AVN) is a severe condition that may complicate the course of rheumatic diseases and contribute to long-term damage. However, there is a lack of evidence on this rare event in pediatric rheumatology. The aim of our study was to evaluate the occurrence of avascular necrosis in the context of rheumatologic diseases in Italy and to describe the main demographic and clinical features of AVN patients, with a particular focus on treatment background.</p><p><strong>Methods: </strong>All centres part of the Italian Society of Pediatric Rheumatology were invited to participate in a retrospective case collection of children with rheumatic diseases complicated by a pediatric-onset AVN. Demographic, clinical, laboratory and imaging data were recorded, together with outcome and treatment background, particularly steroid exposure. Population collected was further evaluated according to the different underlying rheumatologic disease and to the time of AVN onset.</p><p><strong>Results: </strong>Fourteen patients (SLE = 7; JIA = 4; others = 3) were collected from 7 centres. Females were predominantly affected (71%) with a median age at AVN diagnosis of 14.3 years. Multifocal involvement was mostly reported (93%), mainly involving femoral heads (44%) and knees (28%). All patients had a severe rheumatologic background and received systemic glucocorticoids with a median cumulative prednisone equivalent dose of 457.5 mg/kg. In all patients but one imaging showed persistence of abnormalities, despite the complete resolution of symptoms in 6 of them. Bisphosphonates were the most used therapeutic approach; orthopedic surgery was required in 2 cases.</p><p><strong>Conclusions: </strong>Despite its rarity, AVN may be a severe complication of pediatric rheumatic diseases. Active monitoring is crucial to promptly identify patients and to prevent long-term damage. Prospective large sample studies are required to better understand the impact of steroid exposure and its complex interplay with other potential contributing factors.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"20"},"PeriodicalIF":3.2,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11776117/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143058851","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":"Association between some environmental risk factors and attention-deficit hyperactivity disorder among children in Egypt: a case-control study.","authors":"Riham Abdelhamid Hussein, Rania Hussein Refai, Aleya Hanafy El-Zoka, Hanan Galal Azouz, Mohamed Fakhry Hussein","doi":"10.1186/s13052-025-01843-w","DOIUrl":"10.1186/s13052-025-01843-w","url":null,"abstract":"<p><strong>Background: </strong>Attention-Deficit Hyperactivity Disorder (ADHD) is a complex disease that negatively impacts the social and academic/occupational activities of children and is more common in boys than in girls.</p><p><strong>Methods: </strong>This case-control study aimed to assess the association between some environmental risk factors and ADHD among children in Alexandria, Egypt. It was carried out at the outpatient clinics of El Shatby Pediatric University Hospital in Alexandria, Egypt, with 252 children (126 cases and 126 controls). Hair samples were collected for analysis of lead and manganese levels using Atomic Absorption Spectrophotometer. A pre-designed interview questionnaire was used to determine the important environmental risk factors that may be related to ADHD.</p><p><strong>Results: </strong>Children from parents with low levels of education, living in crowded houses, and occupational exposure to chemical agents were found to be risk factors for ADHD. The mean ± SD hair lead level in ADHD children was 2.58 ± 1.95, while in controls was 1.87 ± 0.92, with a statistically significant difference (p < 0.001). The mean ± SD hair manganese level in ADHD children was 2.10 ± 1.54, while in controls was 1.11 ± 0.69, with a statistically significant difference (p < 0.001). The logistic regression model revealed that six factors had a significant association with ADHD: using of newspapers to wrap food 3 or more times a week (adjusted odds ratio (AOR) = 105.11, 95% CI: 11.18-988.26), daily TV watching by child for more than 5 h (AOR = 63.96, 95% CI: 2.56-1601.32), child's eating commercially packed noodles 3 times or more per week (AOR = 57.73, 95% CI: 3.77-593.93), using unpackaged flour in cooking (AOR = 44.47, 95% CI: 1.83-629.80), eating sweets daily by child (AOR = 6.82, 95% CI: 1.23-37.94), and lastly elevated hair Manganese level (AOR = 3.57, 95% CI: 1.24-10.29).</p><p><strong>Conclusions: </strong>ADHD is a multi-factorial disorder, where many environmental risk factors contribute to its development. Future efforts to determine the best preventive strategy in Egypt must be based on a better knowledge of the role of environmental risk factors in the etiology of the disorder. Eliminating non-essential uses of lead and providing public education regarding the importance of safe disposal of lead-acid batteries and computers are necessary.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"19"},"PeriodicalIF":3.2,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11776284/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143058807","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":"Abnormal characteristics of inferior vena cava and abdominal aorta among neonates with early onset septic shock.","authors":"Lanlan Mi, Yiman Liu, Fei Bei, Jianhua Sun, Jun Bu, Yuqi Zhang, Weiwei Guo","doi":"10.1186/s13052-024-01829-0","DOIUrl":"10.1186/s13052-024-01829-0","url":null,"abstract":"<p><strong>Background: </strong>The variety of shocks in neonates, if not recognized and treated immediately, is a major cause for fatality. The use of echocardiography may improve assessment and treatment, but its reference values across gestational age (GA) and birth weight (BW) are lacking. To address the information gap, this study aimed at correlating GA and BW of newborns with nonhemodynamic abnormalities, and at evaluating the usefulness of such reference values in neonates with early onset septic (EOS) -shock.</p><p><strong>Methods: </strong>A total of 200 normal newborns were enrolled as controls and subdivided into groups based on GA, BW, days of age, and patent ductus arteriosus (PDA). Echocardiography was used to document inferior vena cava diameter (IVC), inferior vena cava collapsibility index (IVC-CI), and inferior vena cava to abdominal aorta ratio (IVC/AO). In addition, 18 neonates with EOS shock were recruited and evaluated using echocardiography.</p><p><strong>Results: </strong>Among the control newborns, IVC and AO were significantly increased with GA and BW (P < 0.05) but IVC-CI and IVC/AO did not correlate with GA, BW, day of age, and PDA. Compared to the control group, the EOS-shock group had significantly decreased IVC and IVC/AO, and increased IVC-CI (P < 0.05). The cut-off values for indicating EOS-shock were > 34.15% for IVC-CI, < 47.58% for IVCmin/AO, and < 66.11% for IVCmax/AO.</p><p><strong>Conclusions: </strong>The IVC-CI, IVCmin/AO, and IVCmax/AO indices are applicable to all neonates. Although the number of neonates with EOS-shock in our study is small, the cut-off values showed usefulness for diagnosis. Further research is needed to determine the application of the indices in a larger population and among other populations, especially for clinical application in treatment of shock among neonates.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"21"},"PeriodicalIF":3.2,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11776259/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143058143","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 analysis of the epidemiology and pathogen distribution of bronchoalveolar lavage fluid in children with severe pulmonary infection: a retrospective study.","authors":"Muchun Yu, Mingchao Li, Huiqing Sun","doi":"10.1186/s13052-025-01859-2","DOIUrl":"10.1186/s13052-025-01859-2","url":null,"abstract":"<p><strong>Background: </strong>Severe pulmonary infection is the primary cause of death in children aged < 5 years. The early identification of pathogenic bacteria and targeted anti-infective therapies can significantly improve the prognosis of children with severe infections. This study aims to provide a reference for the rational use of antibiotics at an early stage in children with severe pulmonary infections.</p><p><strong>Methods: </strong>A retrospective, single-center longitudinal study included children with severe pulmonary infections between January 2017 and December 2022 by obtaining their bacterial culture results of bronchoalveolar lavage fluid.</p><p><strong>Results: </strong>This study included 4080 samples. The age of onset for severe pulmonary infection increased annually. The proportion of severe pulmonary infections across the different age groups and years was statistically significant (p < 0.001). Among children with severe pulmonary infections, bacilli were the most prevalent, followed by cocci and fungi. The predominant bacilli were Acinetobacter baumannii and Klebsiella pneumoniae. The predominant cocci identified in this study were Streptococcus pneumoniae and Staphylococcus aureus. The primary fungi included Candida albicans and Aspergillus fumigatus, which showed significant differences (p < 0.05). The incidence of drug-resistant bacteria has gradually declined, with infection rates of multidrug-resistant bacteria and extended-spectrum beta-lactamases consistently decreasing annually. For carbapenem-resistant Acinetobacter baumannii and Pseudomonas aeruginosa, the infection rates peaked in 2018, with statistical significance (p < 0.001).</p><p><strong>Conclusions: </strong>Severe pulmonary infections in children are significantly associated with age and types of infectious pathogens. Gram-negative bacteria are the primary cause of severe pulmonary infections in children. Clinicians should rationally use antibiotics according to the local distribution and drug resistance of pathogens, thereby enhancing therapeutic outcomes.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"18"},"PeriodicalIF":3.2,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11776209/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143058796","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":"Decoding airway granulogenesis in children: unveiling risk factors for tracheobronchial foreign body aspiration and complications.","authors":"Yuting You, Meili Shen, Li'e Zeng, Jingyang Zheng","doi":"10.1186/s13052-025-01869-0","DOIUrl":"10.1186/s13052-025-01869-0","url":null,"abstract":"<p><strong>Background: </strong>Exogenous foreign body aspiration is a common high-risk condition in children. In a few cases, foreign body aspiration can lead to airway granulomas that interfere with tracheoscopic foreign body removal and threaten the life of the child.</p><p><strong>Methods: </strong>This study was a retrospective analysis of the clinical data of 184 pediatric patients who were admitted to Quanzhou Children's Hospital from 2018 to 2021 with exogenous tracheobronchial foreign bodies.</p><p><strong>Results: </strong>Respiratory foreign bodies tend to occur during the winter and spring seasons. The solid foreign bodies were mostly nut foreign bodies, the location of implantation was the left lung rather than the right lung in many patients, and complications such as pulmonary atelectasis, emphysema, mediastinal and subcutaneous emphysema, and granulomatous tissue formation were noted in these patients. Statistical models suggested that the time of foreign body impaction and the release of oil were risk factors for tracheal granulation, with the logistic model presenting an AUC of 0.948, precision of 0.676, and sensitivity of 0.895, whereas the XGBoost model presented an AUC of 0.902, precision of 0.912, and sensitivity of 0.875.</p><p><strong>Conclusions: </strong>Tracheobronchial foreign bodies primarily develop in male children under the age of 3 and often lead to various complications. The time of foreign body insertion and the release of oil from the obstructed foreign body have been identified as high-risk factors for the development of tracheobronchial granulation tissue. When the time of foreign body insertion without oil release exceeds 99.98 h or when the time of foreign body insertion with oil release exceeds 47.94 h, tracheobronchial granulation formation strongly suggests that the child is at high risk of developing airway granulation. In such cases, family members must implement increased supervision of the child to prevent choking. Medical professionals should obtain a detailed medical history of the affected child and accordingly select the most appropriate method to promptly remove the foreign body to resolve the issue of airway obstruction and reduce the likelihood of pulmonary complications in the child.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"17"},"PeriodicalIF":3.2,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11773775/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143051858","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":"Prolonged screen time is associated with increased severity of tic symptoms in children with tic disorders.","authors":"Zakaria Ahmed Mohamed, Hanyu Dong, Yang Xue, Miaoshui Bai, Yuling Ouyang, Feiyong Jia","doi":"10.1186/s13052-025-01851-w","DOIUrl":"10.1186/s13052-025-01851-w","url":null,"abstract":"<p><strong>Background: </strong>Recent studies have emphasized the association between prolonged screen exposure and neurodevelopmental disorders, though its correlation with tic disorders (TDs) remains ambiguous. We thus conducted this study to investigate the association between screen time (ST) and the severity of tic symptoms in children diagnosed with TDs.</p><p><strong>Methods: </strong>We conducted a retrospective case-control study with 342 cases of TDs and 270 controls, collecting data from March 2021 to December 2023. The main exposure variable was daily ST for each child, and tic severity, evaluated using the Yale Global Tic Severity Scale (YGTSS), was the outcome variable. Statistical analysis included descriptive statistics, Pearson's correlation analysis to examine the relationship between screen time and tic severity, and multivariate regression analysis to evaluate the predictive power of screen time for tic symptoms.</p><p><strong>Results: </strong>Our findings revealed that children with TDs had significantly longer ST compared to the control group, averaging 116.06 ± 147.9 min/day versus 43.23 ± 37.5 min/day, p < 0.001. We also noted a positive correlation between ST and TDs( r = 0.461, p < 0.01). Daily ST was a significant predictor of overall YGTSS scores (t = 9.58, p < 0.001), suggesting that increased ST is associated with heightened tic symptoms. However, age of first exposure to screens was not significantly correlated with tic severity (p > 0.05). Though we observed a negative correlation between ST and vitamin D levels, the results were not statistically significant (p > 0.05).</p><p><strong>Conclusion: </strong>Children with TDs had longer ST compared to their control's counterparts, and prolonged ST was significantly associated with heightened tic severity, which highlights the critical need for careful monitoring and regulation of screen time in children with TDs.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"16"},"PeriodicalIF":3.2,"publicationDate":"2025-01-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11770938/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143046511","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":"Specialized pediatric palliative care in Italy: where are we going? The Palliped 2022-2023 study.","authors":"Franca Benini, Anna Mercante, Sara Di Nunzio, Simonetta Papa","doi":"10.1186/s13052-025-01850-x","DOIUrl":"10.1186/s13052-025-01850-x","url":null,"abstract":"<p><strong>Background: </strong>The PalliPed project is a nationwide, observational, cross-sectional study designed with the aim of providing a constantly updated national database for the census and monitoring of specialized pediatric palliative care (PPC) activities in Italy. This paper presents the results of the first monitoring phase of the PalliPed project, which was developed through the PalliPed 2022-2023 study, to update current knowledge on the provision of specialized PPC services in Italy.</p><p><strong>Methods: </strong>Italian specialized PPC centers/facilities were invited to participate and asked to complete a self-reporting, ad-hoc, online survey regarding their clinical activity in 2022-2023, in the revision of the data initially collected in the first PalliPed study of 2021.</p><p><strong>Results: </strong>18 specialized PPC centers/facilities from 14 Italian regions and two autonomous provinces participated; 13 were identified as regional referral centers (72.2%), with the acquisition of three new centers in comparison to 2021. Full coverage of the regional territory was reported by 54% of them, compared with 45% in 2021, while a 24/7 service was offered by 23%, compared with 27% in 2021. Eight of 13 referral centers (61%) had a dedicated team, compared with 91% in 2021. Also, an overall increase in the number of followed patients was observed, rising from 1,209 (2019) to 2,734 (2023). In line with previous data, most PPC healthcare providers were nurses (n = 181) and physicians (n = 89), with an overall increased number of PPC providers from 2021.</p><p><strong>Conclusions: </strong>The nationwide PalliPed project established the first comprehensive overview and monitoring of the state of specialized PPC in Italy. Data reported within the PalliPed 2022-2023 monitoring study suggest a general improving trend in the availability of the specialized PPC service in Italy, compared with data collected in 2021. At the same time, the need for a greater effort to provide better care models and resources for specialized PPC remains, especially considering that the number of children needing PPC is constantly increasing.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"15"},"PeriodicalIF":3.2,"publicationDate":"2025-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11763133/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143038910","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 manifestations in Egyptian Pompe disease patients: Molecular variability and enzyme replacement therapy (ERT) outcomes.","authors":"Mohamed Abdelghafar Hussein, Heba ElTaher, Ranim Mahmoud, Donia Sobh, Mohammad Al-Haggar","doi":"10.1186/s13052-025-01837-8","DOIUrl":"10.1186/s13052-025-01837-8","url":null,"abstract":"<p><strong>Background: </strong>Pompe disease is a rare genetic disorder caused by a deficiency of the enzyme acid alpha-glucosidase. This condition leads to muscle weakness, respiratory problems, and heart abnormalities in affected individuals.</p><p><strong>Methods: </strong>The aim of the study is to share our experience through cross sectional study of patients with infantile-onset Pompe disease (IOPD) with different genetic variations, resulting in diverse clinical presentations. We evaluated their phenotype, genotype, radiological and laboratory findings including their cross-reactive immunologic material (CRIM) status. Infantile Pompe disease was diagnosed by measurement of the activity of the enzyme alpha-glucosidase. The diagnosis was confirmed by molecular genetic testing using PCR amplification and sequencing of the acid alpha-glucosidase (GAA) gene. Routine two-D echocardiography, and multi-parametric ECG-gated cardiac magnetic resonance imaging (CMR) were done to patients six months after starting enzyme replacement therapy (ERT).</p><p><strong>Results: </strong>The results of our study revealed different genetic mutations among our patients, different CRIM status and also CMR abnormalities. CMR imaging revealed abnormalities in all cases that underwent the procedure, including myocardial and vascular changes, with feature tracking indicating issues across all parameters and LGE suggesting fibrosis. The patient with a positive immune response had the most severe cardiac abnormalities, despite improvements in muscle weakness and motor skills from ERT. This underscores that delayed diagnosis and ERT can lead to irreversible heart damage from autophagy buildup.</p><p><strong>Conclusion: </strong>Pompe disease has various clinical presentations and results in significant CMR findings, which can be attributed to different genetic mutations. Early initiation of enzyme replacement therapy in infantile-onset Pompe disease is important to maximize its benefits.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"13"},"PeriodicalIF":3.2,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11756172/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143028718","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":"Mycoplasma pneumoniae detections in children with acute respiratory infection, 2010-2023: a large sample study in China.","authors":"Yuzhu Miao, Jungen Li, Linlin Huang, Ting Shi, Tingbo Jiang","doi":"10.1186/s13052-025-01846-7","DOIUrl":"10.1186/s13052-025-01846-7","url":null,"abstract":"<p><strong>Background: </strong>This study aimed to describe the epidemiological trends of Mycoplasma pneumoniae (MP) infection among children with acute respiratory tract infections (ARTIs) before, during and after the COVID-19 pandemic, and evaluating the impact of non-pharmaceutical interventions (NPIs) on the epidemiology of MP infection.</p><p><strong>Methods: </strong>Children with ARTIs admitted to the Children's Hospital of Soochow University (SCH) from January 2010 to December 2023 and underwent MP nucleic acid PCR assay were included. Clinical data on age, sex, onset time and detection result were collected and analyzed.</p><p><strong>Results: </strong>All of the 122,984 inpatients were enrolled, in which 20.8% (25659/122984) of the children with MP tested positive, including 19.4% (14139/72662) for male and 22.9% (11520/50322) for female. It was a statistically significant difference between the two genders (p < 0.05). In addition, the positive rate of MP was the highest in the age group > 6 years old each year (p < 0.05). During 14-year period, the detection rate of MP has experienced four peaks in 2012, 2013, 2019, and 2023. Before the NPIs the prevalence of MP showed seasonality, and the number and rate of MP positivity reached their peak in August. However, the rate of MP positivity remained at a low level during the NPIs. After the abolition of NPIs, the MP positivity rate obviously increased and remained at a high level.</p><p><strong>Conclusions: </strong>The NPIs could reduce the spread of MP infection and change its epidemic season, but it has not changed the susceptible population of MP infection.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"11"},"PeriodicalIF":3.2,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11755796/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143028722","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}