Italian Journal of Pediatrics最新文献

{"title":"Pediatric pneumonia across altitudes in Ecuador: a countrywide, epidemiological analysis from 2010-2021.","authors":"Esteban Ortiz-Prado, Maria V Cortez-Silva, Jorge Vasconez-Gonzalez, Juan S Izquierdo-Condoy, Javier Peñafiel, Benjamin T Crookston, Ginés Viscor","doi":"10.1186/s13052-025-02004-9","DOIUrl":"10.1186/s13052-025-02004-9","url":null,"abstract":"<p><strong>Background: </strong>In Ecuador, pneumonia is a significant pediatric health challenge and a leading cause of infant mortality. Little is known about the contribution of altitude to trends in pneumonia incidence and mortality. The objective of this study was to examine the how the disease burden of pneumonia varies across substantial changes in altitude in a large population over time.</p><p><strong>Methods: </strong>A nationwide descriptive ecological analysis of the burden of pediatric pneumonia was conducted using secondary data from hospital discharges spanning 2010 to 2021. Patients aged 0 to 18 years with ICD-10 diagnoses related to pneumonia were included. The data were stratified by altitudes using the two main classifications available: The classical categorization (low < 2,500 m and high altitude > 2,500 m), and the classification offered by the International Society of Mountain Medicine (low altitude (< 1,500 m), moderate altitude (1,500 m - 2,500 m), high altitude (2,500-3,500 m). Disease frequency, prevalence, and the burden of disease were analyzed in relation to altitude.</p><p><strong>Results: </strong>Between 2010 and 2021 in Ecuador, there were 268,895 pediatric hospitalizations and 4,669 deaths due to lower respiratory tract infections. The incidence was higher among males (54.3%), who had a mean age of 1.4 years during their hospital stay. In comparison, females accounted for 45.7% of cases and had a slightly higher mean age of 1.6 years. The incidence rate in low altitude areas (< 2,500 m) was 341.6 per 100,000 with 173,305 cases, whereas high altitude areas (> 2,500 m) had a rate of 467.4 per 100,000 with 95,590 cases. The mortality rate was disproportionately high in very high-altitude regions at 34.2 per 100,000, despite lower incidence rates.</p><p><strong>Conclusions: </strong>In Ecuador, pneumonia incidence notably increases at altitudes above 2,500 m, while mortality rates were higher at elevations exceeding 3,500 m. This increment in mortality may be attributed to reduced access to medical services in higher altitudes, leading to fewer individuals seeking early medical intervention and underreporting of incidence rates. The multifaceted nature of these findings underscores the necessity for tailored health strategies that prioritize improved healthcare accessibility, widespread vaccination programs, to mitigate the impact of pneumonia across varying altitudes.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"165"},"PeriodicalIF":3.2,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12123815/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144181758","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":"Implementation of the 2022 AAP guidelines for neonatal hyperbilirubinemia could reduce the need for phototherapy in Italy.","authors":"Carlo Dani, Monica Fusco, Marco Andreini, Giuseppe Pepe, Simone Pratesi","doi":"10.1186/s13052-025-02002-x","DOIUrl":"10.1186/s13052-025-02002-x","url":null,"abstract":"<p><strong>Background: </strong>The American Academy of Pediatrics (AAP) revised in 2022 its guideline on the management of neonatal hyperbilirubinemia and suggested a significant increase in the thresholds for phototherapy. Our aim was to evaluate if the implementation of these guideline could reduce admissions for hyperbilirubinemia requiring phototherapy in our unit.</p><p><strong>Methods: </strong>We studied 876 infants with gestational age ≥ 35 weeks who were admitted for hyperbilirubinemia requiring phototherapy during the first week of life. Total serum bilirubin (TSB) at the start of phototherapy, which was decided based on the guidelines of the Italian Society of Neonatology, was compared with the TSB thresholds recommended by AAP 2022 guidelines.</p><p><strong>Results: </strong>Seven hundred and thirteen (82%) infants had TSB at the start of phototherapy lower than AAP 2022 threshold (16.2 ± 3.0 vs. 17.7 ± 3.4 mg/dL; P < 0.001) with a mean difference of 1.8 (0.7-2.6) mg/dL. Among them, one hundred and fifteen infants (13%), 226 (26%), and 372 (42%) had TSB slightly (0.1-1-0 mg/dL), moderately (1.1-2.0 mg/dL), or greatly (> 2.0 mg/dL) below AAP threshold.</p><p><strong>Conclusions: </strong>It can be estimated that the implementation of the AAP 2022 guidelines in our unit could reduce the rate of hospitalizations for hyperbilirubinemia requiring phototherapy by 42 to 68%. These findings, along with the short- and long-term neonatal and economic benefits, support the implementation of the AAP 2022 guidelines in our unit.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"162"},"PeriodicalIF":3.2,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12121210/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144173796","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":"Novel acute kidney injury biomarkers and their utility in children and adolescents-overview.","authors":"Adrianna Bargielska, Anna Wasilewska, Agnieszka Rybi-Szumińska","doi":"10.1186/s13052-025-02005-8","DOIUrl":"10.1186/s13052-025-02005-8","url":null,"abstract":"<p><p>Acute kidney injury (AKI) affects a significant percentage of the pediatric population. Currently, the diagnosis of AKI in children still uses traditional laboratory methods (ex. creatinine or urea serum concentration and measurement of urine output). It has significant limitations. Early stages of AKI in children may be almost asymptomatic. In-depth assessment with the pRIFLE scale is helpful, but requires bladder catheterization and precise monitoring of hourly diuresis, as well as multiple blood draws to determine changes in creatinine concentration and estimate glomerular filtration rate (eGFR). The diagnostic methods lack a marker that would the early and potentially reversible phase of kidney damage. This paper reviews recent data on selected AKI markers in children, including their diagnostic and prognostic potential.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"158"},"PeriodicalIF":3.2,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12121183/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144173798","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":"Demographic and clinical characteristics of children and adolescents with headache and/or dizziness and hemodynamic responses to head-up tilt test.","authors":"Runmei Zou, Shuo Wang, Fang Li, Ping Liu, Donglei Liao, Liqun Liu, Jing Liu, Hong Cai, Yuwen Wang, Cheng Wang","doi":"10.1186/s13052-025-01976-y","DOIUrl":"10.1186/s13052-025-01976-y","url":null,"abstract":"<p><strong>Background: </strong>Headache and dizziness are common symptoms in children and adolescents, but the causes of headache/dizziness in most pediatric patients are not clearly defined. We intended to investigate the demographic and clinical features of pediatric patients with headache and/or dizziness and responses to head-up tilt test (HUTT).</p><p><strong>Methods: </strong>The demographic data and medical records of children and adolescents, with a primary complaint of headache and/or dizziness and undergoing HUTT between January 2001 and June 2023, were retrospectively reviewed and analyzed. Children and adolescents with headache and/or dizziness secondary to fever, trauma, or other obvious etiology were excluded. For those with positive responses to HUTT, the symptom score and HUTT responses were collected after treatment at follow-up.</p><p><strong>Results: </strong>Among 2709 patients with unexplained headache and/or dizziness, 1080 (39.87%) cases presented positive responses to HUTT, whereas 1629 (60.13%) cases had negative responses. Among patients with positive responses, 930 (34.33%) cases presented a response of vasovagal syncope, 143 (5.28%) cases of postural orthostatic tachycardia syndrome, and 7 (0.26%) cases of orthostatic hypertension. Multivariate Logistic regression analysis demonstrated that females, older age, and low body mass index percentile increased the risk of being positive responses. At follow-up, HUTT results of 236 patients were collected, among which 131 (55.51%) cases turned negative HUTT responses and had headache/dizziness symptoms improved after treatment targeted autonomic dysfunction.</p><p><strong>Conclusion: </strong>HUTT can be applied to evaluate the autonomic function of children and adolescents with headache and/or dizziness and assess the treatment responses in those patients with autonomic dysfunction.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"161"},"PeriodicalIF":3.2,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12121244/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144173640","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":"Analysis of clinical characteristics and risk factors for Staphylococcus aureus disseminated infection secondary to acute osteoarticular infections in children.","authors":"Yingtie Cui, Shiguang Feng, Pengyuan Luo, Zhen Mao, Xiaokang Zhou, Yunzhen Zhang","doi":"10.1186/s13052-025-02007-6","DOIUrl":"10.1186/s13052-025-02007-6","url":null,"abstract":"<p><strong>Background: </strong>The aim of this study was to investigate the risk factors associated with Staphylococcus aureus (S. aureus) disseminated infection (DSAI) that occurs secondarily to acute osteoarticular infections (OAI) in children.</p><p><strong>Methods: </strong>A retrospective analysis of 131 pediatric patients with acute OAI (July 2012-March 2024) was conducted. Patients were categorized into a DSAI group (33 cases) and a non-DSAI group (98 cases). Data analyzed included age, gender, pediatric intensive care unit (PICU) admission, surgical delay, initial symptoms, highest pre-hospital fever, inflammatory markers, pathogen type (MSSA/MRSA), bacteremia, antibiotic duration, postoperative fever length, surgeries (≥ 2), hospital stay, and prognosis.</p><p><strong>Results: </strong>DSAI primarily affected the lungs, brain, and thorax, with femur and hip joints being the most involved OAI sites. Fever (45.45%) and limb swelling/pain (42.42%) were common symptoms. The DSAI group showed significantly higher CRP levels, bacteremia incidence, MRSA infections, PICU admissions, surgical delays, ≥ 2 surgeries, longer postoperative fever, prolonged hospital stays, and worse prognosis (P < 0.05). No significant differences were found in age, gender, pre-admission time, initial symptoms, highest fever, WBC count, ESR, antibiotic duration, or neutrophil percentage (P > 0.05). Logistic regression identified bacteremia (OR: 32.232, 95% CI: [2.558-406.068], P = 0.007), CRP > 162.375 mg/L (OR: 7.499, 95% CI: [2.044-27.513], P = 0.002), and surgical delay > 9.50 days (OR: 7.462, 95% CI: [1.828-30.459], P = 0.005) as independent risk factors.</p><p><strong>Conclusion: </strong>DSAI complicates OAI, leading to a severe course and poor prognosis. High vigilance and early intervention are crucial for pediatric patients with these risk factors.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"160"},"PeriodicalIF":3.2,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12121166/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144173704","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The phenotypes of sickle cell disease: strategies to aid the identification of undiagnosed patients in the Italian landscape.","authors":"Maddalena Casale, Silvia Benemei, Cristiano Gallucci, Giovanna Graziadei, Giovanni Battista Ferrero","doi":"10.1186/s13052-025-01992-y","DOIUrl":"10.1186/s13052-025-01992-y","url":null,"abstract":"<p><p>Sickle cell disease (SCD) is an inherited autosomal recessive monogenic blood disorder characterized by red blood cell sickling responsible for recurrent vaso-occlusive crises and chronic hemolysis. Clinical manifestations vary and SCD patients experience increased morbidity and mortality. In Italy, SCD patients cluster into two distinct subpopulations: those of sub-Saharan African descent and those of Caucasian descent. Most sub-Saharan African SCD patients are children or young adults and carry the homozygous genotype hemoglobin (Hb) S, or SC, whereas Caucasian SCD patients tend to be older and have predominantly HbS/β-thalassemia. Patients of African descent typically present with acute SCD-related events, including vaso-occlusive crises, acute chest syndrome, anemia, fever, and pneumonia. Caucasian patients, according to the different distribution of SCD genotypes, may exhibit either acute episodes or chronic long-term complications. Regardless of age, genotype, or ethnic background, most SCD patients in Italy are undiagnosed, and pain, fatigue and anemia should be regarded as presenting signs and symptoms of this disease. The tests needed to diagnose SCD are simple, and a complete blood count together with erythrocyte morphology, wherever available, hemolysis markers, should be performed whenever SCD is suspected. If a patient presents with two risk factors -family history, ethnicity, or a significant clinical feature - a first-level screening test (e.g. assessment of Hb fractions with HPLC), where available, should be performed immediately, or a referral should be provided. Here, we present an overview of the clinical features of SCD that may be encountered in real-world clinical practice in Italy from a practical perspective. This narrative review may aid non-specialist physicians in identifying disparate clinical conditions that may be symptoms or signs of SCD.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"157"},"PeriodicalIF":3.2,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12121258/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144173805","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The correlation between positive rate of antibody or DNA and children's age with suspected Mycoplasma pneumoniae infection.","authors":"Weiguo Feng, Ying Lin, Qiang Wang, Xiaoqin Qian","doi":"10.1186/s13052-025-01993-x","DOIUrl":"10.1186/s13052-025-01993-x","url":null,"abstract":"<p><strong>Background: </strong>Mycoplasma pneumoniae (MP) is a prevalent respiratory pathogen in children, with diagnosis typically relying on detecting MP DNA in nasal swabs or antibodies in blood samples. The relationship between MP DNA positivity and age in children is not well understood. We aimed to explore trends in MP DNA and antibody detection rates with age in a pediatric population.</p><p><strong>Methods: </strong>This retrospective study analyzed data from 1,161 children under 14 years old hospitalized with suspected MP infection. The study included clinical presentations and laboratory tests, and all participants underwent chemiluminescence and nucleic acid detection for MP antibodies and DNA, respectively. We analyzed the relationship between age and MP DNA and antibodies in our study.</p><p><strong>Results: </strong>The mean age of the children was 49.7 ± 32.6 months. Laboratory data showed mild elevations in inflammatory markers and normal liver function tests, reflecting the generally moderate severity of MP infections. The study revealed that the positive rate of MP DNA was 9.0%, and it was negatively correlated with children's age (r = -0.21, P < 0.001). The positive rate of MP IgM antibody was 7.1%, and it was positively correlated with children's age (r = 0.18, P < 0.001). The positive rate of MP IgG antibody was 6.3%, and it was not correlated with children's age (r = 0.03, P = 0.36).</p><p><strong>Conclusion: </strong>These results suggest that MP DNA detection identifies the MP infection earlier and more accurately than antibody detection and that younger children are more susceptible to MP infection than older children. Given the sensitivity and specificity of MP DNA found in young children in this study, it is recommended that it should be considered in routine clinical practice for early diagnosis and intervention.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"156"},"PeriodicalIF":3.2,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12121008/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144173803","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Global time-trend analysis and projections of disease burden for neuroblastic tumors: a worldwide study from 1990 to 2021.","authors":"Yinjie Tao, Weishi Cheng, Hongnan Zhen, Jing Shen, Hui Guan, Zhikai Liu","doi":"10.1186/s13052-025-01983-z","DOIUrl":"10.1186/s13052-025-01983-z","url":null,"abstract":"<p><strong>Background: </strong>Neuroblastoma and other peripheral nerve cell tumors (NB-PNT) are the most common extracranial solid tumors in children. This study aimed to describe the global burden of NB-PNT across different age groups and genders, including incidence, prevalence, mortality, and disability-adjusted life years (DALYs) in various countries and regions. Additionally, we analyzed changes in the disease burden over the past three decades and predicted future trends up to 2036.</p><p><strong>Methods: </strong>Using open data from the Global Burden of Disease (GBD) database (1990-2021), we provided a dynamic description of the disease burden of NB-PNT patients across different age and gender groups on a global scale. Joinpoint analysis was used to calculate the average annual percentage change (AAPC) to quantify trends in the burden of NB-PNT. Meanwhile, the Bayesian Age-Period-Cohort (BAPC) model was applied to predict the changes in disease burden up to 2036.</p><p><strong>Results: </strong>From 1990 to 2021, the global burden of NB-PNT increased significantly, with global prevalence rising from 41,456 to 56,326 cases. Gender and age disparities were evident, with male patients and patients aged 6-11 months exhibiting higher disease burden. Regional variations were observed, with higher disease burdens in regions with a higher sociodemographic index (SDI), although low-SDI regions showed a consistent upward trend. Overall, the prevalence of NB-PNT increased year by year (overall AAPC = 0.64% [0.56 - 0.72%]), with a slight decline in age-standardized mortality rates observed in 2019 (APC_{2019 - 2021} = -2.02%). Projections indicate a slight decline in both incidence and mortality rates by 2036, with a more pronounced reduction in females.</p><p><strong>Conclusions: </strong>A higher burden of NB-PNT was evident among male patients and infants. The disease burden in low-SDI regions has increased in recent years, while a decline was observed in high-SDI regions. Over the past 30 years, the burden rose overall, although a decline in incidence was observed in 2019. Projections indicate a slight decrease in global incidence and mortality rates through 2036.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"164"},"PeriodicalIF":3.2,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12121101/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144173647","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":"Scurvy, all the faces you can see: our experience and review of the literature.","authors":"Fabio Toscano, Giuseppina Zirilli, Simone Foti Randazzese, Mariagrazia Carlino, Romina Gallizzi, Malgorzata Wasniewska, Mariella Valenzise","doi":"10.1186/s13052-025-02014-7","DOIUrl":"10.1186/s13052-025-02014-7","url":null,"abstract":"<p><strong>Background: </strong>In the recent past an incremental incidence of scurvy has been reported in the pediatric population, especially in children with neuropsychiatric disorders and a selective diet. Musculoskeletal manifestations, such as limp and refusal to walk, usually represent the main causes of access in the emergency room. Nowadays, new patterns of manifestations have been demonstrated, such as hematological and cardiological changes including pulmonary hypertension, rarely resulting in potential lethal complications.</p><p><strong>Case presentation: </strong>We describe five pediatric patients affected by developmental delay or autism, with a restrictive diet, diagnosed with scurvy during the hospitalization: 3 pre-school aged boys presenting with typical clinical presentation, due to severe malnutrition; a 6-year-old girl with refusal to walk and a very high titre of inflammatory markers, without typical signs of scurvy; a 4-year-old boy with severe pulmonary hypertension, rarely related to vitamin C deficiency. In all the cases, a prompt resolution of the symptoms after the administration of vitamin C has been observed, confirming the diagnosis.</p><p><strong>Conclusion: </strong>At present, scurvy is a more contemporary condition than previously thought. It is fundamental to recognize both typical and atypical manifestations to avoid delay of diagnosis or rarely life-threatening complications.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"159"},"PeriodicalIF":3.2,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12121052/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144173800","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":"Cardioprotective effects of CoQ10 in pediatric patients with lysosomal storage disorders.","authors":"Yasmine Abuzaid, Ghada Abdul Moemn Suliman, Osama Abd Rab El Rasool Toulba, Ahmed Abd El Basset Abo Elezz, Alshimaa Badraldeen, Heba Dawoud","doi":"10.1186/s13052-025-02008-5","DOIUrl":"10.1186/s13052-025-02008-5","url":null,"abstract":"<p><strong>Background: </strong>Lysosomal storage disorders (LSDs) result from an accumulation of specific substrates, due to the inability to break them down leading to cellular dysfunction in multiple organs, including the heart constituting an important and treatable cause of cardiomyopathy. Given the role of oxidative stress in many inborn errors of metabolism, many studies are evaluating oxidative stress and hence the role of antioxidants in patients with LSDs.</p><p><strong>The aim of this study: </strong>was to study the possible effects of Coenzyme Q10 as a cardioprotective and an antioxidant drug in patients with LSDs.</p><p><strong>Methods: </strong>This study was a prospective case-control study conducted on 30 patients with LSDs and an equal number of healthy subjects of matched age and sex served as a control group at the unit of Medical Genetics and inborn errors of metabolism at the Pediatric Department of Tanta University Hospital. All subjects included were subjected to full history taking, complete physical examination, assessing serum level of N-terminal pro-brain natriuretic peptide (NT-proBNP) & serum malondialdehyde (MDA), along with comprehensive cardiac evaluation that was done using tissue doppler imaging and speckling tracking echo. Then the patient group was subdivided into two subgroups, half of the patients received Co enzyme Q10 (CoQ10) while the other half received a placebo for 24 weeks followed by cardiac evaluation and reassessment of serum MDA and NT-proBNP for both patient subgroups.</p><p><strong>Results: </strong>Patients with LSDs had significantly higher levels of serum MDA than controls denoting higher oxidative stress, P-value < 0.001. CoQ10 resulted in significant beneficial reduction of serum MDA (15%) &NT-proBNP (30%) in the group of patients who received CoQ10, P-value < 0.001 and improvement of cardiac functional parameters in patients with LSDs.</p><p><strong>Conclusion: </strong>These findings suggest that CoQ10 may have a role in reducing oxidative stress and so may prevent the development of cardiomyopathy in patients with LSDs.</p><p><strong>Trial registration: </strong>This study was performed after approval from the Ethical Committee, Faculty of Medicine, Tanta University, Egypt (approval code 33255/07/19) and after obtaining written informed consent from children guardians. Also, this trial was registered on Pan African clinical trials registry with the number PACTR, 'PACTR202107466690046'. Registered 04 July 2021.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"163"},"PeriodicalIF":3.2,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12121178/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144173708","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}