Italian Journal of Pediatrics最新文献

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B cell dysfunction in thalamus and brainstem involvement and high lactate caused by novel mutation of EARS2 gene. EARS2基因突变引起的丘脑和脑干B细胞功能障碍及高乳酸血症。
IF 3.2 3区 医学
Italian Journal of Pediatrics Pub Date : 2025-05-19 DOI: 10.1186/s13052-025-01999-5
Yu Wen, Yanmei Huang, Wendi Zhang, Ping Chen, Xiufen Hu, Xin Xiong, Li Luo
{"title":"B cell dysfunction in thalamus and brainstem involvement and high lactate caused by novel mutation of EARS2 gene.","authors":"Yu Wen, Yanmei Huang, Wendi Zhang, Ping Chen, Xiufen Hu, Xin Xiong, Li Luo","doi":"10.1186/s13052-025-01999-5","DOIUrl":"10.1186/s13052-025-01999-5","url":null,"abstract":"<p><strong>Purpose: </strong>The EARS2 gene, a member of the mt-aaRS family, encodes mitochondrial glutamyl-tRNA synthetase (GluRS), which is involved in the synthesis of mitochondrial proteins. Pathogenic defects in EARS2 may cause mitochondrial OXPHOS deficiency, which is associated with a rare autosomal-recessive mitochondrial disease, leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL).</p><p><strong>Methods: </strong>In this study, clinical features were obtained, and whole-exome sequencing was conducted on a patient with LTBL. B- and T-cell immunophenotyping and protein expression were analyzed using flow cytometry, and B-cell metabolism was investigated using confocal microscopy.</p><p><strong>Results: </strong>The patient with LTBL exhibited typical neurological manifestations, recurrent respiratory tract infections, and humoral immune disorders. Molecular analysis revealed a compound heterozygous novel mutation in c.1304T > A (p.L435Q) and a previously reported c.319 C > T (p.R107C) mutation of EARS2. The mutations led to protein structural modifications of EARS2. The patient also exhibited disrupted peripheral B-cell differentiation and B-cell receptor signal transduction. The EARS2 mutation led to decreased expression of CD38 and dysfunction of mitochondrial metabolism, with elevated reactive oxygen species levels in B cells.</p><p><strong>Conclusion: </strong>We identified a novel mutation of the EARS2 gene in a patient with LTBL, expanding the mutation database. The mutation of EARS2 modified protein structure and impaired B-cell function, decreased CD38 expression, and led to dysfunction of mitochondrial metabolism, all of which may account for the recurrent respiratory tract infections and humoral immune disorders observed in LTBL.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"143"},"PeriodicalIF":3.2,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12090667/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144101864","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
Association of upper respiratory tract infection with perioperative respiratory adverse events in pediatric tonsillectomy patients : A propensity-matched cohort study. 儿童扁桃体切除术患者上呼吸道感染与围手术期呼吸道不良事件的关联:一项倾向匹配的队列研究。
IF 3.2 3区 医学
Italian Journal of Pediatrics Pub Date : 2025-05-19 DOI: 10.1186/s13052-025-02013-8
Shenghua Yu, Cheng Xu, Jun Yao, Jingjie Cai, Rong Wei, Yan Jiang
{"title":"Association of upper respiratory tract infection with perioperative respiratory adverse events in pediatric tonsillectomy patients : A propensity-matched cohort study.","authors":"Shenghua Yu, Cheng Xu, Jun Yao, Jingjie Cai, Rong Wei, Yan Jiang","doi":"10.1186/s13052-025-02013-8","DOIUrl":"10.1186/s13052-025-02013-8","url":null,"abstract":"<p><strong>Background: </strong>Upper respiratory tract infections (URTIs) and perioperative respiratory adverse events (PRAEs) pose significant risks for anesthesia in children undergoing tonsillectomy. This study aimed to determine whether URTIs is associated with PRAEs during postanesthesia recovery after tonsillectomy.</p><p><strong>Methods: </strong>Children underwent tonsillectomy, with or without adenoidectomy at Shanghai Children's Hospital from 1 October 2022 to 30 July 2023. We assessed associations between URTIs and PRAEs during postanesthesia recovery in pediatric patients. In total, 94 patients with URTIs were propensity score-matched 1:1 with 94 patients without URTIs. The study's main outcome measure was the difference in PRAEs incidence between the two groups.</p><p><strong>Results: </strong>Children with URTIs were more likely to experience PRAEs than those without URTIs (68 of 94 [72.3%] vs. 25 of 94 [26.6%]; odds ratio [OR], 7.44; 95% CI, 3.34-17.38). They were also more likely to require interventional management post-PRAEs in the post-anesthesia care unit, such as jaw support (OR, 5.01; 95% CI, 2.06-12.20) and mask-assisted oxygenation (OR, 7.85; 95% CI, 3.98-15.50), but no other serious clinical adverse events were observed.</p><p><strong>Conclusions: </strong>Children with URTIs had an increased incidence of PRAEs, but only minor interventions were needed to relieve symptoms without serious adverse events. Most children can be safely anesthetized even with URTIs if perioperative anesthesia management is optimized.</p><p><strong>Trial registration: </strong>The study protocol was registered with the Chinese Clinical Trial Registry (registration number: ChiCTR2400084682) on 22 May 2024. https://www.chictr.org.cn/showproj.html?proj=230630 .</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"146"},"PeriodicalIF":3.2,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12090419/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144101863","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 characteristics and post-operative outcomes in children with purulent meningitis with hydrocephalus: 46 cases in a single center study. 46例化脓性脑膜炎合并脑积水患儿的临床特点及术后预后
IF 3.2 3区 医学
Italian Journal of Pediatrics Pub Date : 2025-05-19 DOI: 10.1186/s13052-025-01995-9
Yaning Sun, Juan Du, Jiangshun Fang, Shengjuan Wang, Jimei Luan, Zhenghai Cheng, Zhiguo Yang, Yishuo Sun
{"title":"Clinical characteristics and post-operative outcomes in children with purulent meningitis with hydrocephalus: 46 cases in a single center study.","authors":"Yaning Sun, Juan Du, Jiangshun Fang, Shengjuan Wang, Jimei Luan, Zhenghai Cheng, Zhiguo Yang, Yishuo Sun","doi":"10.1186/s13052-025-01995-9","DOIUrl":"10.1186/s13052-025-01995-9","url":null,"abstract":"<p><strong>Background: </strong>To investigate the clinical characteristics, surgical strategy, and surgical outcomes in children with purulent meningitis with hydrocephalus (PMH) under 3 years old.</p><p><strong>Methods: </strong>This retrospective controlled study included 46 pediatric patients who underwent the Conventional external ventricular drain (C-EVD) or modified external ventricular drainage (M-EVD) for PMH treatment at Hebei Province of Children's Hospital from January 2018 to December 2023. Conventional external ventricular drain placement is standard of care in the management of purulent meningitis with hydrocephalus. The indwelling time of conventional external ventricular drainage is relatively short, 7-10 days. Long-term external drainage devices may lead to retrograde infection. This study has modified the external ventricular drain procedure. Clinical outcomes, cerebrospinal fluid (CSF) test results, complications, and outcomes were compared between the modified external ventricular drainage (n = 21) group and conventional external ventricular drain (n = 25) group.</p><p><strong>Results: </strong>The two groups were similar regarding age, sex, weight and other general conditions (P > 0.05). There were significant differences in the values of white blood cells (WBC), glucose (GLU) and protein (PR) in cerebrospinal fluid between the two groups when the drainage tube was removed, which was statistically significant. The median days of removing the drainage tube in the conventional external ventricular drain group and the modified external ventricular drainage group were 9 days and 19 days, respectively. The median days of CSF returning to normal were 19 days and 13 days (P < 0.05). A total of 13 children in the modified external ventricular drainage group underwent ventriculo-peritoneal shunt surgery, while 17 children in the conventional external ventricular drain group were treated with entriculo-peritoneal shunt surgery (P = 0.665).</p><p><strong>Conclusion: </strong>The modified external ventricular drainage has more obvious advantages compared to conventional external ventricular drain. The modified significantly prolonged the catheterization time, which can more effectively treat purulent meningitis with hydrocephalus in pediatric patients.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"145"},"PeriodicalIF":3.2,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12090619/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144101866","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
Medication use in the neonatal intensive care unit in a tertiary hospital in China from 2020 to 2023. 2020 - 2023年中国某三级医院新生儿重症监护病房用药情况分析
IF 3.2 3区 医学
Italian Journal of Pediatrics Pub Date : 2025-05-19 DOI: 10.1186/s13052-025-02003-w
Yi Wang, Linhong Song, Yanhua Wang, Jun Li, Yuanyuan Xie, Lei Yan, Huixia Zhou, Siqi Hu
{"title":"Medication use in the neonatal intensive care unit in a tertiary hospital in China from 2020 to 2023.","authors":"Yi Wang, Linhong Song, Yanhua Wang, Jun Li, Yuanyuan Xie, Lei Yan, Huixia Zhou, Siqi Hu","doi":"10.1186/s13052-025-02003-w","DOIUrl":"10.1186/s13052-025-02003-w","url":null,"abstract":"<p><strong>Background: </strong>The use of medication in the neonatal intensive care unit (NICU) is a complex field that requires special attention, as neonatal patients may have different sensitivities and responses to drugs than adults and older children. The administration of medication in the NICU must consider various factors, including the dosage of the medication, the route of administration, monitoring, and potential drug interactions.</p><p><strong>Methods: </strong>In this study, we conducted a retrospective analysis of medication use in the neonatal intensive care unit of 122 preterm infants treated in our hospital from 2020 to 2023.</p><p><strong>Results: </strong>Correlation analysis revealed that among perinatal clinical characteristics, birth weight was moderately positively correlated with gestational age, with a correlation coefficient greater than that of birth weight with the Apgar score. The top 3 medication types in the NICU were \"vitamins, nutritional drugs, enzyme preparations and drugs that regulate water, electrolytes, and acid-base balance\", \"blood hematopoietic system medications\", and \"antimicrobial medications\". From 2020 to 2023, the most commonly used drugs in the NICU were vitamin AD (vitamin A and vitamin D) drops and calcium gluconate injections. In addition, we demonstrated that the most commonly prescribed off-label drugs were vitamins, water and electrolyte balance nutrition drugs, and blood circulation system drugs.</p><p><strong>Conclusions: </strong>Our retrospective study will not only help identify and evaluate interventions to reduce medication errors but also aid healthcare systems and providers in understanding, implementing, and enhancing these interventions to improve the safety and quality of care for newborns. Nonetheless, further research is needed to assess the relative cost-effectiveness of various medication safety interventions to facilitate their adoption and implementation in the decision-making process.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"142"},"PeriodicalIF":3.2,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12090553/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144101868","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
Hemodynamically significant anemia as an indication of transfusion in preterm infants. 血液动力学上显著的贫血是早产婴儿输血的指征。
IF 3.2 3区 医学
Italian Journal of Pediatrics Pub Date : 2025-05-16 DOI: 10.1186/s13052-025-01978-w
Marwa Mohamed Farag, Mohamed Alaa Eldin Hassan Thabet, Ahmed Adel Hassan El Beheiry, Bahaa Salah-El Din Hammad, Mohammed Attia Khalifa, Amany Abdel Hamed Elsebaee
{"title":"Hemodynamically significant anemia as an indication of transfusion in preterm infants.","authors":"Marwa Mohamed Farag, Mohamed Alaa Eldin Hassan Thabet, Ahmed Adel Hassan El Beheiry, Bahaa Salah-El Din Hammad, Mohammed Attia Khalifa, Amany Abdel Hamed Elsebaee","doi":"10.1186/s13052-025-01978-w","DOIUrl":"10.1186/s13052-025-01978-w","url":null,"abstract":"<p><strong>Background: </strong>To transfuse or not to transfuse premature infants\" is still one of debatable issues in neonatal care that has not been completely solved. Recognizing hemodynamically significant (HS) anemia might be part of the solution. Our purposes were to investigate the hemodynamic effects of late onset anemia and red blood cells (RBCs) transfusion on premature neonates with gestational age 28-32 weeks and to tailor transfusion needs based on hemodynamic variables and Hb/HCT level.</p><p><strong>Methods: </strong>In the current study, 36 anemic preterm infants with a gestational age of 28-32 weeks and a postnatal age of 3-9 weeks, all having a hematocrit (HCT) level below 30% and being candidates for red blood cell (RBC) transfusions, were compared to 36 non-anemic infants with HCT levels of 30% or higher in terms of hemodynamic parameters during their initial scans. Each anemic infant underwent a second scan 24 h after receiving RBC transfusions. The hemodynamic parameters assessed included left ventricular cardiac output (LVO) and the flow velocities in the renal (RA), anterior cerebral (ACA), and celiac (CA) arteries, measured using functional echocardiography and Doppler imaging. The hemodynamic changes were related to the presence of clinical signs in the anemic infants.</p><p><strong>Results: </strong>LVO, stroke volume (SV), heart rate (HR), and ACA-peak systolic velocity (PSV) were significantly increased in anemia of prematurity and significantly decreased after RBCs transfusions. With an area under the ROC curve of 0.862, LVO displayed the highest diagnostic performance for HS-anemia of prematurity.</p><p><strong>Conclusions: </strong>LVO, SV, HR, ACA-PSV, hemodynamic parameters can be used for diagnosing HS-anemia and can provide objective criteria for identifying patients in need of RBCs-transfusions. They also help in monitoring response of RBCs-transfusion in anemic preterm infants. Those cut off measures require validation by future studies.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"140"},"PeriodicalIF":3.2,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12084977/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144086278","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
Neutrophil CD64 can be an early predictor for sepsis during febrile neutropenic episodes in children with cancer: a case control study. 中性粒细胞CD64可作为癌症患儿发热性中性粒细胞减少期脓毒症的早期预测指标:一项病例对照研究。
IF 3.2 3区 医学
Italian Journal of Pediatrics Pub Date : 2025-05-14 DOI: 10.1186/s13052-025-01979-9
Marwa Zakaria, Nehad Karam, Tamer Hassan, Nahla Zidan, Asmaa Abdelsalam, Raghdaa A Ramadan, Marwa L M Rashad, Eman Abdelaziz, Ahmed Ramadan, Ahmed A Ali
{"title":"Neutrophil CD64 can be an early predictor for sepsis during febrile neutropenic episodes in children with cancer: a case control study.","authors":"Marwa Zakaria, Nehad Karam, Tamer Hassan, Nahla Zidan, Asmaa Abdelsalam, Raghdaa A Ramadan, Marwa L M Rashad, Eman Abdelaziz, Ahmed Ramadan, Ahmed A Ali","doi":"10.1186/s13052-025-01979-9","DOIUrl":"https://doi.org/10.1186/s13052-025-01979-9","url":null,"abstract":"<p><strong>Background: </strong>Febrile neutropenia (FN) is a common treatment-related complication in pediatric cancer patients with substantial morbidities and mortalities. Previous studies reported that neutrophil CD64 (n CD64) had higher diagnostic accuracy for infection with high sensitivity and specificity in neonates, pediatrics and adult patients. We aimed to evaluate the usefulness of neutrophil CD64 expression as an early diagnostic marker of sepsis in children with cancer during episodes of FN.</p><p><strong>Methods: </strong>a case control study was conducted on 100 children (50 patients with hematological malignancies and febrile neutropenia, 25 patients with hematological malignancies without febrile neutropenia and 25 apparently healthy children as a control group). Routine laboratory investigations including blood culture were done in patients with cancer according to our local standards. Procalcitonin level and Neutrophil CD64 expression by flowcytometry were measured for all study participants.</p><p><strong>Results: </strong>n CD64 expression was significantly higher in patients with cancer and FN compared to other groups (p > 0.001). At a cutoff value of ≥ 17.82%, serum n CD64 had 94% sensitivity and 72% specificity. n CD64 expression level was negatively correlated to absolute neutrophil count (ANC) during episode of FN (r= (-0.359, p = 0.01). A positive correlation was found between nCD64 expression and both of CRP and procalcitonin. Blood culture was positive in 54% in patients with cancer and FN. The most common isolated organism was Kllibselia pneumonia. Among patients with cancer and FN, n CD64 expression level was significantly higher in patients with positive blood culture compared to those with negative cultures.</p><p><strong>Conclusion: </strong>Neutrophil CD64 expression seems to be a reliable marker in early detection of sepsis during episodes of febrile neutropenia in children with hematological malignancies.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"139"},"PeriodicalIF":3.2,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12079864/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144077061","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
Comprehensive analysis of acute flaccid paralysis with and without myelitis in Taiwanese children. 台湾儿童急性弛缓性麻痹伴与不伴脊髓炎之综合分析。
IF 3.2 3区 医学
Italian Journal of Pediatrics Pub Date : 2025-05-13 DOI: 10.1186/s13052-025-01980-2
Chien-Heng Lin, Ru-Huei Fu, I-Ching Chou, Yu-Tzu Chang, Syuan-Yu Hong
{"title":"Comprehensive analysis of acute flaccid paralysis with and without myelitis in Taiwanese children.","authors":"Chien-Heng Lin, Ru-Huei Fu, I-Ching Chou, Yu-Tzu Chang, Syuan-Yu Hong","doi":"10.1186/s13052-025-01980-2","DOIUrl":"10.1186/s13052-025-01980-2","url":null,"abstract":"<p><strong>Background: </strong>Acute flaccid paralysis (AFP) is a clinical syndrome marked by the sudden onset of muscle weakness or paralysis, requiring immediate medical intervention due to its potential for significant morbidity and mortality. Despite extensive studies on AFP, comparative analyses between cases with myelitis (M-AFP) and non-myelitis (NM-AFP) remain scarce. This study seeks to address this gap by analyzing demographic, clinical, and etiological distinctions between these groups.</p><p><strong>Methods: </strong>A retrospective study was conducted on 39 pediatric AFP patients diagnosed between 2012 and 2021. Participants were categorized into M-AFP (n = 22) and NM-AFP (n = 17) groups based on clinical symptoms and diagnostic imaging. Demographic and clinical characteristics, laboratory findings, and underlying causes were analyzed to identify differences between the groups. Statistical methods were employed to assess significance.</p><p><strong>Results: </strong>Significant clinical differences were observed: limb numbness was more prevalent in M-AFP, while myalgia was more common in NM-AFP. Elevated cerebrospinal fluid white blood cell (CSF WBC) counts were noted in M-AFP cases, though the difference was not statistically significant. Etiologies of M-AFP included multiple sclerosis and enterovirus infections, while NM-AFP involved polymyositis, Guillain-Barré syndrome, and hypokalemic periodic paralysis.</p><p><strong>Conclusions: </strong>This study highlights the distinct clinical and etiological profiles of M-AFP and NM-AFP, emphasizing the need for tailored diagnostic strategies to enhance outcomes in pediatric patients.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"138"},"PeriodicalIF":3.2,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12077078/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143996063","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
Diagnosis of glutaric aciduria type I based on neuroradiological findings: when neonatal screening fails. 诊断戊二酸尿I型基于神经放射学的发现:当新生儿筛查失败。
IF 3.2 3区 医学
Italian Journal of Pediatrics Pub Date : 2025-05-13 DOI: 10.1186/s13052-025-01975-z
Vincenza Gragnaniello, Andrea Puma, Daniela Gueraldi, Ignazio D'Errico, Chiara Cazzorla, Christian Loro, Elena Porcù, Leonardo Salviati, Alberto B Burlina
{"title":"Diagnosis of glutaric aciduria type I based on neuroradiological findings: when neonatal screening fails.","authors":"Vincenza Gragnaniello, Andrea Puma, Daniela Gueraldi, Ignazio D'Errico, Chiara Cazzorla, Christian Loro, Elena Porcù, Leonardo Salviati, Alberto B Burlina","doi":"10.1186/s13052-025-01975-z","DOIUrl":"10.1186/s13052-025-01975-z","url":null,"abstract":"<p><strong>Background: </strong>Glutaric aciduria type I (GA-I) is an autosomal recessive disorder affecting the metabolism of lysine, hydroxylysine, and tryptophan. Patients present in the first age of life with an irreversible motor disorder, and neuroradiological imaging can suggest the presence of the condition. Biochemically, the disorder is characterized by elevated levels of glutaric and 3-hydroxy glutaric acid in the urine and glutarylcarnitine in the blood. This latter metabolite can be detected in dried blood spots, and the condition can therefore be included in some newborn screening programs.</p><p><strong>Case presentation: </strong>We present the case of a patient affected by GA-I that was undetected by newborn screening in whom the diagnosis was clinically oriented at the age of nine months by acute neurological symptoms, represented by persistent tonic seizures, and by neuroimaging showing bilateral signal alterations in the basal ganglia. Biochemical data, including glutarylcarnitine in dried blood spots and urinary excretion of glutaric acid, were normal in the acute phase and during follow-up. Molecular analysis confirmed a diagnosis of GA-I, showing a homozygous M405V variant of the GCDH gene, which is common in African populations and associated with a low-excretor phenotype characteristic of the disorder.</p><p><strong>Conclusions: </strong>In conclusion, although GA-I is included in neonatal screening programs, the biochemical markers in dried blood spots can be absent. Therefore, in patients of African origin, clinicians should maintain a high degree of vigilance in the presence of suggestive clinical and neuroradiological findings, even if biochemical parameters are normal.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"137"},"PeriodicalIF":3.2,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12076892/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144005064","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
Impact of ASD and ADHD on pediatric asthma exacerbations: a retrospective analysis of the Nationwide Inpatient Sample 2005-2020. ASD和ADHD对儿童哮喘加重的影响:2005-2020年全国住院患者样本的回顾性分析
IF 3.2 3区 医学
Italian Journal of Pediatrics Pub Date : 2025-05-09 DOI: 10.1186/s13052-025-01974-0
Dai-Xuan Lin, Ya-Ting Chang, Yu-Chun Lo, Shih-Ming Weng
{"title":"Impact of ASD and ADHD on pediatric asthma exacerbations: a retrospective analysis of the Nationwide Inpatient Sample 2005-2020.","authors":"Dai-Xuan Lin, Ya-Ting Chang, Yu-Chun Lo, Shih-Ming Weng","doi":"10.1186/s13052-025-01974-0","DOIUrl":"https://doi.org/10.1186/s13052-025-01974-0","url":null,"abstract":"<p><strong>Background: </strong>To explore the impact of autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) on in-hospital outcomes in children hospitalized for asthma exacerbations.</p><p><strong>Methods: </strong>This retrospective study utilized data from the Nationwide Inpatient Sample (NIS) database between 2005 and 2020. We included children aged 5 to 19 years admitted for asthma exacerbations. Children were categorized into four groups: those with ASD only, ADHD only, both ASD and ADHD, and neither condition. Propensity score matching was used to balance baseline characteristics.</p><p><strong>Results: </strong>A total of 155,893 children hospitalized for asthma were identified, with 2,443 patients remaining after propensity score matching. Children with both ASD and ADHD had the highest total hospital costs, followed by those with ASD alone. Children with both ASD and ADHD had significantly increased risks of overall complications (aOR = 1.69, 95% CI: 1.27-2.26), including epilepsy (aOR = 3.56, 95% CI: 1.61-7.87), pneumonia (aOR = 2.00, 95% CI: 1.33-3.03), and constipation (aOR = 4.22, 95% CI: 1.58-11.26), compared to those without either condition. Children with ASD alone also had elevated risks for epilepsy (aOR = 3.79, 95% CI: 1.79-8.03) and constipation (aOR = 4.33, 95% CI: 1.78-10.54).</p><p><strong>Conclusion: </strong>In the US children hospitalized for asthma exacerbations, those with both ASD and ADHD, or ASD alone, face significantly greater costs and higher risks of specific complications, particularly epilepsy, pneumonia, and constipation. The findings suggest a compounded impact of these neurodevelopmental conditions on asthma children, emphasizing the need for specialized care to manage these patients effectively and reduce the risks.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"135"},"PeriodicalIF":3.2,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12065205/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144020178","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 and CT characteristics of human metapneumovirus-associated severe pneumonia in children in Beijing. 北京地区儿童人偏肺病毒相关性重症肺炎的临床和CT特征
IF 3.2 3区 医学
Italian Journal of Pediatrics Pub Date : 2025-05-09 DOI: 10.1186/s13052-025-01973-1
Weihan Xu, Xiaoyan Zhang, Yuhong Guan, Ruxuan He, Xiang Zhang, Jinrong Liu
{"title":"Clinical and CT characteristics of human metapneumovirus-associated severe pneumonia in children in Beijing.","authors":"Weihan Xu, Xiaoyan Zhang, Yuhong Guan, Ruxuan He, Xiang Zhang, Jinrong Liu","doi":"10.1186/s13052-025-01973-1","DOIUrl":"https://doi.org/10.1186/s13052-025-01973-1","url":null,"abstract":"<p><strong>Background: </strong>Human metapneumovirus (HMPV) has been increasingly appreciated as a cause of lower respiratory tract infection among children. The purpose of this paper is to determine the radiographic and clinical features of children with HMPV lower respiratory disease.</p><p><strong>Case presentation: </strong>We reviewed seven pediatric patients with severe pneumonia due to HMPV admitted to the Department of Respiratory Medicine, Beijing Children's Hospital were assessed in our study from January to July 2023. Unlike other common viral, lobar or segmental consolidation, air bronchograms, and bronchial wall thickening were the most commonly observed HRCT findings in HMPV-associated pneumonia. C-reactive protein (CRP) levels, ranged 35 mg/L to 146 mg/L, and the median WBC count were significantly increased in children with HMPV-associated pneumonia than the normal level. Two patients were co-detected with Haemophilus influenzae and streptococcus pneumoniae, respectively. Five patients were treated with empirical antibiotics prior to the bacterial test results.</p><p><strong>Conclusions: </strong>Some pediatric HMPV-associated pneumonias were characterized by lobar or segmental consolidation in CT and the significantly elevated CRP levels, which may mimic Mycoplasma Pneumoniae or bacterial infection. Healthcare providers should consider HMPV as a possible causative pathogen, perform laboratory tests for prompt diagnosis, and limit unnecessary antibiotic treatment.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"136"},"PeriodicalIF":3.2,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12065228/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143996202","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
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