Italian Journal of Pediatrics最新文献

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Adverse perinatal outcomes associated with respiratory distress syndrome in preterm infants: a retrospective analysis. 与早产儿呼吸窘迫综合征相关的不良围产期结局:回顾性分析。
IF 3.2 3区 医学
Italian Journal of Pediatrics Pub Date : 2025-07-16 DOI: 10.1186/s13052-025-02061-0
Yu Jie Ma, Yan Sun, Cai Hong Zhang
{"title":"Adverse perinatal outcomes associated with respiratory distress syndrome in preterm infants: a retrospective analysis.","authors":"Yu Jie Ma, Yan Sun, Cai Hong Zhang","doi":"10.1186/s13052-025-02061-0","DOIUrl":"https://doi.org/10.1186/s13052-025-02061-0","url":null,"abstract":"<p><strong>Background: </strong>With the development of perinatal medicine and the continuous improvement of neonatal treatment technology, the birth rate of preterm infants is increasing. Respiratory distress syndrome (RDS) is one of the most prevalent complications with a high mortality rate among preterm infants. It is associated with short and long-term adverse outcomes for newborns, and seriously affects their survival rate and long-term quality of life. The aim of the present study was to investigate the perinatal risk factors for RDS, and the major complications and mortality rate associated with RDS in preterm infants, thereby providing a basis for preventing the occurrence of RDS and improving the prognosis of preterm infants.</p><p><strong>Methods: </strong>A retrospective cohort study was conducted by selecting all preterm infants who were admitted to the Neonatal Intensive Care Unit (NICU) of Qilu Hospital, Shandong University (Qingdao) after obstetric delivery from January 2018 to December of 2021. According to whether preterm infants suffered from RDS, they were divided into RDS group (n = 319) and Non- RDS group (n = 366).</p><p><strong>Results: </strong>A total of 685 preterm infants were included. In the RDS group, the mothers of preterm infants with RDS were older (P < 0.001) and more of advanced maternal age (≥ 35 years, P < 0.005), tended to have a higher rate of cesarean section (P = 0.033), and were more likely to be complicated with pregnancy diabetes and hypertensive disorders during pregnancy (all P < 0.001). Preterm infants with RDS were more prevalent in males (P = 0.025), with smaller gestational age, lighter weight and a higher risk of asphyxia at birth (all P < 0.001). Preterm infants with RDS after birth had a higher rate of pneumonia, sepsis, hypoxic-ischemic encephalopathy (HIE), bronchopulmonary dysplasia (BPD), and had longer anti-infection times (duration of antimicrobial use) and hospitalization times (all P < 0.001), as well as a higher mortality rate of 6.0%, while none died in Non-RDS group (P < 0.001). Among preterm infants who had died, most of them were males, with a mortality rate 8.5 times higher than that of females. Multivariate logistic regression analysis indicated that gestational diabetes (OR = 2.283, 95% CI 1.483-3.513), hypertensive disorders during pregnancy (OR = 2.201, 95% CI 1.215-3.988), gestational age < 32 weeks (OR = 3.914, 95% CI 2.972-5.155), birth weight < 1500 g (OR = 6.610, 95% CI 2.777-13.735), and asphyxia (OR = 5.239, 95% CI 2.602-10.551) were independent risk factors for the occurrence of RDS in preterm infants. Through further analysis, we found that the incidence rate of asphyxia in preterm infants with RDS who used corticosteroids before delivery was decreased (P = 0.02), while the incidence rate of hyperbilirubinemia was increased (P = 0.004), and the hospitalization time was prolonged (P = 0.043), however the mortality rate was not significantly different between the two g","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"235"},"PeriodicalIF":3.2,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144649446","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Beyond cognition: psychopathological sequelae of neonatal hypoxic-ischemic encephalopathy. 超越认知:新生儿缺氧缺血性脑病的精神病理后遗症。
IF 3.2 3区 医学
Italian Journal of Pediatrics Pub Date : 2025-07-15 DOI: 10.1186/s13052-025-02062-z
Elisa Cainelli, Tiziana Battistin, Cristina Forest, Sara Puddu, Cristina Malaventura, Agnese Suppiej
{"title":"Beyond cognition: psychopathological sequelae of neonatal hypoxic-ischemic encephalopathy.","authors":"Elisa Cainelli, Tiziana Battistin, Cristina Forest, Sara Puddu, Cristina Malaventura, Agnese Suppiej","doi":"10.1186/s13052-025-02062-z","DOIUrl":"10.1186/s13052-025-02062-z","url":null,"abstract":"<p><strong>Background: </strong>Since the introduction of therapeutic hypothermia (TH) for neonatal hypoxic-ischemic encephalopathy (HIE), mortality and severe morbidity have been reduced, but follow-up studies have shown a high incidence of neuropsychological impairments. By contrast, the possibility of psychopathological vulnerability in children with HIE has not been clearly addressed. Our study aims to investigate the presence of psychopathological symptoms by comparing in the prepuberal period a sample of children with a history of neonatal HIE to a control group.</p><p><strong>Methods: </strong>This is an observational cohort study with cross-sectional outcome assessment, where 76 HIE children (mean age 7.2 ± 1.84 years, range 5-12 years, 53.5% males) and 76 controls (mean age 7.8 ± 2.25 years, range 5-12 years, 51% males) were recruited. Exclusion criteria were the presence of major impairments. Parents completed the Child Behavior Checklist (CBCL) questionnaire. HIE group and controls have been compared, and the roles of age and sex have been evaluated.</p><p><strong>Results: </strong>A significantly higher percentage of psychopathological symptoms, in particular internalizing (p =.048) and somatic complaints (p <.001), in HIE children compared to peers have been found. The T scores of HIE and controls differed significantly for all CBCL subscales except for externalizing problems. An interaction between age and group in the variables strongly distinguishing HIE and controls has been found.</p><p><strong>Conclusion: </strong>Neurobiology of neonatal HIE may determine a vulnerability to developing psychopathological symptoms. Great attention should be paid to internalizing problems, given the risk of underestimating them in children and their potential to be precursors of most invalidating disorders at higher ages, such as depression.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"228"},"PeriodicalIF":3.2,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12261663/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144637038","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}
引用次数: 0
The clinical analysis and indications for exchange transfusion in 158 children with pertussis characterized by marked leukocytosis. 158例以白细胞明显增多为特征的百日咳患儿换血的临床分析及适应证。
IF 3.2 3区 医学
Italian Journal of Pediatrics Pub Date : 2025-07-15 DOI: 10.1186/s13052-025-02077-6
Gaihuan Zheng, Qing Liu, Chuan Gan
{"title":"The clinical analysis and indications for exchange transfusion in 158 children with pertussis characterized by marked leukocytosis.","authors":"Gaihuan Zheng, Qing Liu, Chuan Gan","doi":"10.1186/s13052-025-02077-6","DOIUrl":"10.1186/s13052-025-02077-6","url":null,"abstract":"<p><strong>Background: </strong>Hyperleukocytosis (WBC ≥ 30 × 10⁹/L) strongly associated with fatal outcomes; evidence-based thresholds for initiating exchange transfusion (ET) remain undefined. This study aims to investigate the association between leukocyte elevation and disease severity, and define evidence-based thresholds for initiating exchange transfusion, to assist clinical doctors in determining evidence-based medical indications for ET therapy in pediatric patients with pertussis exhibiting marked leukocytosis (WBC ≥ 30 × 10⁹/L).</p><p><strong>Methods: </strong>We conducted a retrospective cohort study involving 158 children diagnosed with pertussis, who were stratified into three groups based on peak WBC levels: Group A (30-50 × 10⁹/L), Group B (50-70 × 10⁹/L), and Group C (≥ 70 × 10⁹/L). Clinical parameters, including cardiorespiratory indices, complications, and treatment outcomes, were analyzed using the Kruskal-Wallis test and ROC curve analyses.</p><p><strong>Results: </strong>Significant differences were observed across the WBC strata in clinical severity markers: cyanosis (45% vs. 58.2% vs. 78.3%, P = 0.015), fever (41.3% vs. 60% vs. 91.3%, P < 0.001), peak respiratory rate (53.9 ± 11.46 vs. 59.4 ± 12.33 vs. 69.04 ± 14.08 breaths/min, P < 0.001), and peak heart rate (144 vs. 157 vs. 187.5 bpm, P < 0.001). Mortality rates escalated with leukocytosis (0% vs. 3.6% vs. 43.5%, P < 0.001).ROC analysis identified optimal thresholds for predicting the need for ET: WBC > 55.38 × 10⁹/L (AUC = 0.899, 95% CI 0.834-0.963; sensitivity 88.2%, specificity 23.4%),Respiratory rate ≥ 59 breaths/min (AUC = 0.795; 95%CI 0.699 ~ 0.891, sensitivity 94.1%, specificity 36.7%),Heart rate ≥ 159 bpm (AUC = 0.813; 95%CI 0.731 ~ 0.895,sensitivity 100%, specificity 38.1%). Patients who met these thresholds required prolonged ICU stays (median 16 vs. 9 days, P = 0.011) and exhibited higher rates of mechanical ventilation (82.6% vs. 7.7%, P < 0.001).</p><p><strong>Conclusion: </strong>Leukocyte levels are strongly correlated with the severity of pertussis, risks of complications, and mortality. We propose initiating ET when WBC exceeds 55 × 10⁹/L, particularly in conjunction with tachypnea (> 60 breaths/min) or tachycardia (> 160 bpm), to mitigate the risk of life-threatening outcomes.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"224"},"PeriodicalIF":3.2,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12261707/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144637059","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}
引用次数: 0
Left ventricular myocardial functions in pediatric patients with primary nephrotic syndrome: a comprehensive evaluation using conventional echocardiography, two-dimensional speckle tracking, and three-dimensional echocardiography. 原发性肾病综合征患儿左心室心肌功能:常规超声心动图、二维斑点追踪和三维超声心动图综合评价
IF 3.2 3区 医学
Italian Journal of Pediatrics Pub Date : 2025-07-15 DOI: 10.1186/s13052-025-02086-5
Amira Hussein, Shaimaa Rakha, Ayman Hammad, Mona Hafez, Mai S Korkor
{"title":"Left ventricular myocardial functions in pediatric patients with primary nephrotic syndrome: a comprehensive evaluation using conventional echocardiography, two-dimensional speckle tracking, and three-dimensional echocardiography.","authors":"Amira Hussein, Shaimaa Rakha, Ayman Hammad, Mona Hafez, Mai S Korkor","doi":"10.1186/s13052-025-02086-5","DOIUrl":"10.1186/s13052-025-02086-5","url":null,"abstract":"<p><strong>Background: </strong>Nephrotic syndrome (NS) has been linked to cardiac morbidity and mortality. However, early cardiac implications in NS were studied on a limited scale using basic echocardiography (ECHO). Therefore, the study aimed to evaluate subclinical Left ventricle (LV) functional alterations using conventional and advanced ECHO modalities.</p><p><strong>Methods: </strong>A prospective observational study was conducted from January 2022 to August 2024 on 40 primary NS patients and 40 controls. Demographic, clinical, and laboratory data were collected. ECHO was performed, including LV functional assessment using conventional ECHO, tissue Doppler, two-dimensional (2D) speckle tracking, and three-dimensional (3D) ECHO.</p><p><strong>Results: </strong>NS patients, whose mean age was 10.93 ± 2.78 years, were subclassified into steroid-sensitive NS (SSNS) 15(37.5%) and steroid-resistant NS (SRNS) 25 (62.5%). Compared with controls, there was no significant difference regarding conventional ejection fraction (EF) or E/A ratio. However, E/E' ratio and tissue Doppler Tie index were significantly higher in NS ( p = 0.001, p= < 0.001, respectively), particularly SRNS. Average global longitudinal strain (GLS) was significantly lower in NS (p = < 0.001), especially SRNS, while 3D ECHO-measured EF significantly declined in NS (p = < 0.001). Tei index and E/E' were moderately correlated with current cholesterol level, while E/E' and GLS correlated with initial serum albumin. On regression analysis, current cholesterol and initial serum albumin were significant predictors for E/E';  p= 0.019 (ß: 0.014, 95% CI: 0.003-0.26) and  p= 0.003 (ß:-1.41, 95% CI: -2.28- -0.53), respectively. No significant factors predicted GLS or 3D EF.</p><p><strong>Conclusion: </strong>In addition to diastolic subclinical LV dysfunction in children with primary NS detected using Tissue Doppler, systolic alterations could be detected using 2D speckle tracking or 3D ECHO. Some of the resultant subtle LV-impaired parameters could be correlated to NS-related biochemical changes.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"234"},"PeriodicalIF":3.2,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12261601/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144637044","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}
引用次数: 0
Results of orthodontic procedure in a patient with classic infantile Pompe disease. 典型婴儿庞贝病患者正畸治疗的结果。
IF 3.2 3区 医学
Italian Journal of Pediatrics Pub Date : 2025-07-15 DOI: 10.1186/s13052-025-02023-6
Carla Maria Grimaldi, Daniela D'Alessandro, Martha Caterina Faraguna, Andrea Boggio, Giulia Caldara, Silvia Barzaghi, Roberta Pretese, Viola Crescitelli, Serena Gasperini
{"title":"Results of orthodontic procedure in a patient with classic infantile Pompe disease.","authors":"Carla Maria Grimaldi, Daniela D'Alessandro, Martha Caterina Faraguna, Andrea Boggio, Giulia Caldara, Silvia Barzaghi, Roberta Pretese, Viola Crescitelli, Serena Gasperini","doi":"10.1186/s13052-025-02023-6","DOIUrl":"10.1186/s13052-025-02023-6","url":null,"abstract":"<p><strong>Background: </strong>Pompe Disease is a rare lysosomal storage disorder. Although enzyme replacement therapy (ERT) has significantly extended the lifespan and improved motor function in these patients, residual orofacial muscle weakness remains as a considerable burden by affecting speech and swallowing.</p><p><strong>Case presentation: </strong>A 7-year-old girl with classic infantile Pompe disease presented with speech and swallowing difficulties. Hypernasality made intelligibility difficult. Orthodontic evaluation revealed mild anterior open bite, atypical swallowing patterns, and maxillary transverse deficiency. Radiographic assessments confirmed a Skeletal Class I relationship and the absence of all third molars. Rapid maxillary expansion was performed to correct this condition. Post-treatment, the patient showed significant improvements in speech and swallowing.</p><p><strong>Conclusion: </strong>While developing a standardized technique may not be feasible at present due to the variations in orofacial characteristics among children with Pompe Disease, incorporating orthodontic care early in its management can significantly improve functional and quality-of-life outcomes for these patients.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"231"},"PeriodicalIF":3.2,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12261780/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144637046","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}
引用次数: 0
Clinical value of combined detection of serum ferritin and N-terminal pro-brain natriuretic peptide in the assessment of Kawasaki disease in children over 1 year of age. 血清铁蛋白与n端脑利钠肽前体联合检测在1岁以上儿童川崎病诊断中的临床价值
IF 3.2 3区 医学
Italian Journal of Pediatrics Pub Date : 2025-07-15 DOI: 10.1186/s13052-025-02076-7
Zhen-Qing Liu, Wan-Yu Jia, Peng Li, Chun-Lan Song
{"title":"Clinical value of combined detection of serum ferritin and N-terminal pro-brain natriuretic peptide in the assessment of Kawasaki disease in children over 1 year of age.","authors":"Zhen-Qing Liu, Wan-Yu Jia, Peng Li, Chun-Lan Song","doi":"10.1186/s13052-025-02076-7","DOIUrl":"10.1186/s13052-025-02076-7","url":null,"abstract":"<p><strong>Background: </strong>To compare the expression levels of serum ferritin and plasma N-terminal pro-brain natriuretic peptide (NT-proBNP) in children over 1 year with Kawasaki disease (KD) and explore the early predictive value of the combined detection of these two indicators for the occurrence of intravenous immunoglobulin (IVIG) resistance and coronary artery lesions (CALs) in KD patients.</p><p><strong>Methods: </strong>A total of 320 children over 1 year of age with KD were retrospectively studied. All participants had peripheral blood samples collected at specific times to test laboratory indicators such as serum ferritin and NT-proBNP. The patients were divided into an IVIG-resistant group and an IVIG-responsive group on the basis of the initial IVIG treatment effect. According to the results of cardiac ultrasound, the patients were divided into a CAL group and a non-CAL group. SPSS 25.0 software was used for data analysis. Receiver operating characteristic (ROC) curves were used to evaluate the early diagnostic efficacy of various indicators for IVIG resistance and CALs in KD patients.</p><p><strong>Results: </strong>Logistic regression analysis revealed that the neutrophil percentage and duration of fever before initial IVIG were independent influencing factors of IVIG resistance in KD patients. IVIG resistance, duration of fever before initial IVIG, and serum albumin level were found to be independent influencing factors of CALs. ROC curve analysis revealed that the area under the curve (AUC) of NT-proBNP for identifying IVIG resistance in KD patients was 0.698. When the cutoff value of NT-proBNP was 419.6 pg/mL, the diagnostic efficacy for IVIG resistance in KD patients was the highest, with a sensitivity of 81.3% and a specificity of 53.0%. The ROC curve analysis revealed that the AUC of NT-proBNP combined with serum ferritin for identifying CALs in KD patients was 0.666, and the diagnostic efficiency of CALs was the highest.</p><p><strong>Conclusions: </strong>In children over 1 year of age with KD, the level of NT-proBNP could be used as an early predictor of IVIG resistance and CALs, and the serum ferritin level could be used as an early predictor of CALs. The diagnostic efficacy of CALs can be further improved when NT-proBNP and serum ferritin are jointly detected.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"229"},"PeriodicalIF":3.2,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12261606/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144637039","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}
引用次数: 0
From vulnerability to resilience: unraveling the role of oxidative stress in preterm brain injury. 从脆弱到恢复:揭示氧化应激在早产儿脑损伤中的作用。
IF 3.2 3区 医学
Italian Journal of Pediatrics Pub Date : 2025-07-15 DOI: 10.1186/s13052-025-02079-4
Qianqian Jiang, Jialin Wen, Yingxue Ding, Hong Cui
{"title":"From vulnerability to resilience: unraveling the role of oxidative stress in preterm brain injury.","authors":"Qianqian Jiang, Jialin Wen, Yingxue Ding, Hong Cui","doi":"10.1186/s13052-025-02079-4","DOIUrl":"10.1186/s13052-025-02079-4","url":null,"abstract":"","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"232"},"PeriodicalIF":3.2,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12261812/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144637043","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}
引用次数: 0
Concurrent mutations in RNU4ATAC, PLEC, and CD96 in a child with severe short stature and skeletal dysplasia: a case report. RNU4ATAC、PLEC和CD96并发突变在严重身材矮小和骨骼发育不良的儿童中:1例报告
IF 3.2 3区 医学
Italian Journal of Pediatrics Pub Date : 2025-07-15 DOI: 10.1186/s13052-025-02054-z
Hui Wang, Jinhui Wang, Darong Chen
{"title":"Concurrent mutations in RNU4ATAC, PLEC, and CD96 in a child with severe short stature and skeletal dysplasia: a case report.","authors":"Hui Wang, Jinhui Wang, Darong Chen","doi":"10.1186/s13052-025-02054-z","DOIUrl":"10.1186/s13052-025-02054-z","url":null,"abstract":"<p><strong>Background: </strong>Polygenic mutations play a significant role in the etiology of various growth-related disorders and bone deformities, influencing multiple physiological processes. Understanding the impact of polygenic mutations is crucial for the diagnosis, genetic counseling, and management of these complex conditions.</p><p><strong>Case presentation: </strong>A boy first evaluated at 9 years and 10 months for short stature was diagnosed with compound heterozygous mutations in PLEC, CD96, and RNU4ATAC genes, with comorbid congenital multiple epiphyseal dysplasia and growth hormone deficiency. These mutations collectively contributed to severe short stature, skeletal deformities, and delayed neurodevelopment. Orthopedic surgeries were performed at 9 years and 10 months (first intervention), 11 years and 6 months (second intervention), and 12 years and 9 months (third intervention), while growth hormone therapy (GHT) was initiated at 11 years and 10 months. Over 25 months of GHT, his height increased by 18 cm, bone age advanced by five years, and gait improved. Final clinical evaluation at 13 years and 11 months confirmed sustained improvements in height (137 cm) and motor function.</p><p><strong>Conclusion: </strong>This case involves a child with short stature caused by rare mutations of PLEC, CD96, and RNU4ATAC. This is the first case report documenting the concurrent presence of all three rare mutations. Orthopedic surgery and GHT were employed to improve the patient's development and quality of life. We propose that early identification of high-risk factors, genetic screening, and comprehensive treatment can enhance therapeutic effectiveness and improve the patient's quality of life.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"226"},"PeriodicalIF":3.2,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12261556/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144637040","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}
引用次数: 0
Postpartum depression and the moderating role of empathy on child physiological reactivity. 产后抑郁与共情对儿童生理反应的调节作用。
IF 3.2 3区 医学
Italian Journal of Pediatrics Pub Date : 2025-07-15 DOI: 10.1186/s13052-025-02063-y
Elisa Cainelli, Barbara Carretti, Sara Puddu, Filippo Zemin, Paola Veronese, Damiano Menin, Marco Dondi, Agnese Suppiej
{"title":"Postpartum depression and the moderating role of empathy on child physiological reactivity.","authors":"Elisa Cainelli, Barbara Carretti, Sara Puddu, Filippo Zemin, Paola Veronese, Damiano Menin, Marco Dondi, Agnese Suppiej","doi":"10.1186/s13052-025-02063-y","DOIUrl":"10.1186/s13052-025-02063-y","url":null,"abstract":"","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"223"},"PeriodicalIF":3.2,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12261772/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144637045","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}
引用次数: 0
A systematic study of emergency strategies for skin healing after pediatric burns: a comprehensive review and a multidisciplinary perspective. 儿童烧伤后皮肤愈合紧急策略的系统研究:综合回顾和多学科视角。
IF 3.2 3区 医学
Italian Journal of Pediatrics Pub Date : 2025-07-15 DOI: 10.1186/s13052-025-02066-9
Luigi Coppola, Alessandra Cianflone, Pasquale Primo, Alessandra Macrì, Fiorenza Mastrodonato, Angela Iannicelli, Rosanna Parasole, Francesca Zamparelli, Marcello Zamparelli, Peppino Mirabelli
{"title":"A systematic study of emergency strategies for skin healing after pediatric burns: a comprehensive review and a multidisciplinary perspective.","authors":"Luigi Coppola, Alessandra Cianflone, Pasquale Primo, Alessandra Macrì, Fiorenza Mastrodonato, Angela Iannicelli, Rosanna Parasole, Francesca Zamparelli, Marcello Zamparelli, Peppino Mirabelli","doi":"10.1186/s13052-025-02066-9","DOIUrl":"10.1186/s13052-025-02066-9","url":null,"abstract":"<p><p>Burn injuries are a significant cause of morbidity and mortality in pediatric populations. Our study aims to provide an in-depth overview of the current emergency treatment strategies for dermal injuries in children. While advances in burn care have led to improved outcomes for patients with dermal injuries, there remains considerable variability in treatment approaches, and numerous opportunities exist to enhance patient care through the adoption of novel therapies and more effective management of healthcare resources. Children with severe burns often experience profound physiological changes that can result in a range of complications, including infections, fluid and metabolism imbalance due to increased catabolism and protein requirements. Our systematic review focuses on emergency treatment approaches that have demonstrated direct application in pediatric burn care. To this aim, we consulted the scientific databases PubMed, Embase, Web of Science, and Cochrane Library, selecting n = 6 studies that outline the emergency therapeutic approach used in the pediatric setting after a burn, highlighting the most widely adopted techniques and their clinical applications. Study selection was guided by defined eligibility criteria; only original articles published in English that investigated emergency interventions in pediatric populations (0 to 17 years) were considered. Studies were excluded if they involved subjects over 17 years of age, focused on conditions unrelated to burns, employed in vitro or in vivo models, or were review articles. Through a comprehensive examination of these approaches, our study aims to identify areas for improvement and potential advancements in pediatric burn management, suggesting possible future approaches based on Advanced therapy medicinal products (ATMPs) storage approaches.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"233"},"PeriodicalIF":3.2,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12261643/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144637036","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}
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