Italian Journal of Pediatrics最新文献

{"title":"Ambulatory blood pressure monitoring in Egyptian children with nephrotic syndrome: single center experience.","authors":"Eman Abobakr Abd Alazem, Sonia Ali El-Saiedi, Shradha Chitrakar, Shorouk A Othman","doi":"10.1186/s13052-024-01775-x","DOIUrl":"https://doi.org/10.1186/s13052-024-01775-x","url":null,"abstract":"<p><strong>Background: </strong>Hypertension (HTN), especially masked hypertension, is one of the cardiovascular consequences of nephrotic syndrome. Masked hypertension cannot be identified during routine follow-up visits and adversely effects the patients' cardiac function. The purpose of this study was to use ambulatory blood pressure monitoring (ABPM) to evaluate the blood pressure status of children with nephrotic syndrome.</p><p><strong>Methods: </strong>Ninety children with nephrotic syndrome (NS) participated in this cross-sectional study, which was carried out at Cairo University Children Hospital's nephrology clinic (CUCH). A sphygmomanometer was used in the clinic to measure blood pressure, and a Meditech monitor was used for 24-hour ambulatory blood pressure monitoring (ABPM). Interventricular septum (IVS) was measured, and heart functions were evaluated, using echocardiography.</p><p><strong>Results: </strong>Two groups comprised the included patients: Group1 (n = 70): HTN group included masked and ambulatory hypertension, and Group 2 (n = 20): non-HTN group included normal blood pressure, white coat HTN and well controlled HTN, 35% of the studied cohort (n = 32/90) had masked HTN.The serum urea was significantly higher in HTN group than non-HTN group with p-value: 0.047, while the serum albumin was significantly lower in HTN group than non-HTN group with p-value: 0.017. The cut-off point of 9.9, the sensitivity and specificity of serum urea to predict the occurrence of hypertension in NS patients was 92.9% and 35% respectively, with p-value : 0.024 and 95% CI (0.534-0.798). The z score of IVS is significantly higher in group 1 (2.5 ± 1.2) when compared to group 2 (1.7 ± 2.1) with p-value: 0.025 and Among group 1, it was noticed that 74% (n = 52/70) of them were systolic non-dipper, also it was observed that the mean serum potassium and cholesterol were significantly higher among systolic non-dipper when compared with systolic dipper patients with p-values: 0.045 and 0.005 respectively.</p><p><strong>Conclusion: </strong>Children with nephrotic syndrome are particularly vulnerable to experience ambulatory hypertension and masked hypertension, which may adversely impact their cardiac condition because they are not detectable by standard blood pressure readings at the clinic.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"50 1","pages":"214"},"PeriodicalIF":3.2,"publicationDate":"2024-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11470724/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142465545","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":"Predictors of Methicillin-resistant Staphylococcus aureus infection in children with acute osteomyelitis.","authors":"Kang Wang, Chen Wang, Hua Zhu, Yan Zou, Yanhua Feng, Fang Zhang, Yi Qu, Yiren Tian","doi":"10.1186/s13052-024-01780-0","DOIUrl":"10.1186/s13052-024-01780-0","url":null,"abstract":"<p><strong>Background: </strong>This study aims to identify risk factors associated with Methicillin-resistant Staphylococcus aureus (MRSA) infection in children diagnosed with acute osteomyelitis (AO) and to elucidate the laboratory characteristics of these MRSA-infected children to enhance early targeted therapeutic interventions.</p><p><strong>Methods: </strong>We conducted a retrospective analysis involving 123 children with acute osteomyelitis treated at our hospital. Upon admission, we measured white blood cell (WBC) counts, C-reactive protein (CRP) levels, erythrocyte sedimentation rates (ESR), and platelet counts. Patients were categorized into two groups: the non-MRSA group (n = 73) and the MRSA group (n = 50), with values assigned as follows (non-MRSA group = 0, MRSA group = 1).</p><p><strong>Results: </strong>The MRSA group had a significantly higher average age compared to the non-MRSA group (P < 0.05). Notably, the incidence of suppurative arthritis was significantly lower in the MRSA group (P < 0.05). At the time of admission, CRP levels in the MRSA group were markedly elevated compared to those in the non-MRSA group (P < 0.01). After three days of empirical therapy, both WBC and CRP levels remained significantly higher in the MRSA group compared to the non-MRSA group (P < 0.05).</p><p><strong>Conclusions: </strong>In children newly admitted with acute osteomyelitis, a CRP level exceeding 73.23 µg/mL may indicate a high likelihood of MRSA infection. For children with AO who have been hospitalized for three days on empirical therapy, the presence of WBC > 10.95 × 10^9/L, CRP > 49.56 µg/mL, age > 3.5 years, and the absence of suppurative arthritis suggests a heightened risk of MRSA infection.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"50 1","pages":"212"},"PeriodicalIF":3.2,"publicationDate":"2024-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11465504/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142400275","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":"Correction: Risk perceptions of Italian paediatricians for the impact of climate change on children's health.","authors":"Sara Moraca, Luciana Indinnimeo, Paola De Nuntiis","doi":"10.1186/s13052-024-01787-7","DOIUrl":"10.1186/s13052-024-01787-7","url":null,"abstract":"","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"50 1","pages":"211"},"PeriodicalIF":3.2,"publicationDate":"2024-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11465585/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142400274","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":"Risk factor analysis and prediction model construction for severe adenovirus pneumonia in children.","authors":"Yaowen Liang, Jinhuan Wu, Gang Chen, Yuchen Du, Yi Yan, Shuqin Xie, Wenxian Qian, Apeng Chen, Changhua Yi, Man Tian","doi":"10.1186/s13052-024-01771-1","DOIUrl":"10.1186/s13052-024-01771-1","url":null,"abstract":"<p><strong>Background: </strong>Severe adenovirus pneumonia in children has a high mortality rate, but research on risk prediction models is lacking. Such models are essential as they allow individualized predictions and assess whether children will likely progress to severe disease.</p><p><strong>Methods: </strong>A retrospective analysis was performed on children with adenovirus pneumonia who were hospitalized at the Children's Hospital of Nanjing Medical University from January 2017 to March 2024. The patients were grouped according to clinical factors, and the groups were compared using Ridge regression and multiple logistic regression to identify risk factors associated with severe adenovirus pneumonia. A prediction model was constructed, and its value in clinical application was evaluated.</p><p><strong>Results: </strong>699 patients were included in the study, with 284 in the severe group and 415 in the general group. Through the screening of 44 variables, the final risk factors for severe adenovirus pneumonia in children as the levels of neutrophils (OR = 1.086, 95% CI: 1.054‒1.119, P < 0.001), D-dimer (OR = 1.005, 95% CI: 1.003‒1.007, P < 0.001), fibrinogen degradation products (OR = 1.341, 95% CI: 1.034‒1.738, P = 0.027), B cells (OR = 1.076, 95%CI: 1.046‒1.107, P < 0.001), and lactate dehydrogenase (OR = 1.008, 95% CI: 1.005‒1.011, P < 0.001). The value of the area under the receiver operating characteristic curve was 0.974, the 95% CI was 0.963-0.985, and the P-value of the Hosmer-Lemeshow test was 0.547 (P > 0.05), indicating that the model had strong predictive power.</p><p><strong>Conclusion: </strong>In this study, the clinical variables of children with adenovirus pneumonia were retrospectively analyzed to identify risk factors for severe disease. A prediction model for severe disease was constructed and evaluated, showing good application value.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"50 1","pages":"210"},"PeriodicalIF":3.2,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11465519/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142390573","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":"Diagnostic value of syndecan-1 for coronary artery lesions and correlation analysis of laboratory indicators in Kawasaki disease patients.","authors":"Ling Dai, Lingbo Zhang, Jie He, Rui Huang, Wenwen Tang, Huan Guo, Xiaoke Shang","doi":"10.1186/s13052-024-01772-0","DOIUrl":"10.1186/s13052-024-01772-0","url":null,"abstract":"<p><strong>Background: </strong>To explore the application value of syndecan-1 (SDC-1) in the diagnosis of coronary artery lesions (CALs) in Kawasaki disease (KD) patients and the correlation of multiple laboratory indicators in KD patients.</p><p><strong>Methods: </strong>86 pediatric Kawasaki disease (KD) patients and 52 healthy controls admitted from January 2018 to December 2023 were retrospectively analyzed. Venous blood samples from KD patients were analyzed for white blood cells (WBC), platelets (PLT), C-reactive protein (CRP), interleukin-6 (IL-6), syndecan-1 (SDC-1), coagulation parameters, and lipid profiles. Correlations between these laboratory indicators were assessed. Receiver operating characteristic (ROC) curve analysis determined the diagnostic value of SDC-1 for coronary artery lesions (CALs) in KD patients. SDC-1 levels were further compared across different CAL severity groups.</p><p><strong>Results: </strong>The levels of ALT, AST, WBC, PLT, CRP, IL-6, and SDC-1 in the KD group were significantly higher than those in the control group (P < 0.05). Coagulation function analysis showed that APTT, TT and FIB levels were significantly increased in the KD group compared with the control group (P < 0.05). Lipid profile analysis revealed that TC, HDL-C, and ApoA1 were significantly decreased, whereas TG, LDL-C, and ApoB100 were significantly increased in the KD group (P < 0.05). Refractory KD patients exhibited significantly higher levels of ALT, AST, SDC-1, CRP, WBC, and TG compared to responsive KD patients (P < 0.05). Correlation analysis indicated a strong positive correlation between PLT and LDL-C (r = 0.227, P = 0.035) and between IL-6 and TG (r = 0.491, P = 0.000), while CRP was negatively correlated with ApoA1 (r = -0.265, P = 0.014). Among the 86 KD patients, 41 (47.67%) developed CALs, with 19 classified as mild, 15 as moderate, and 7 as severe. For predicting CALs among KD patients, the threshold of SDC-1 was identified as 5.5 ng/ml, with a sensitivity of 70.7%, specificity of 64.4%, positive predictive value of 65.91%, negative predictive value of 69.05%, and an AUC of 0.762 (95% confidence interval 0.662-0.861, P < 0.001). SDC-1 levels significantly differed among the CAL severity groups (P = 0.008), with higher levels observed in moderate compared to mild CALs, and in severe compared to moderate CALs.</p><p><strong>Conclusion: </strong>In conclusion, SDC-1 has strong clinical value in the diagnosis of CALs in KD patients, and there is a close relationship between the levels of inflammatory factors, coagulation function and lipid levels in KD patients.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"50 1","pages":"209"},"PeriodicalIF":3.2,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11463127/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142390571","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":"Challenges and opportunities in pediatric residency: an analysis of the increasing number of residents in Italy.","authors":"Antonio Corsello, Silvia Rotulo, Andrea Santangelo, Alfredo Diana, Federico Rossi, Maria Antonietta Catania, Claudia Aracu, Giuseppe Tiralongo, Francesco Pegoraro","doi":"10.1186/s13052-024-01778-8","DOIUrl":"10.1186/s13052-024-01778-8","url":null,"abstract":"<p><strong>Background: </strong>Pediatric residency in Italy has undergone significant changes in recent years, with a notable increase in the number of pediatric residents. Exploring the implications of this increase, highlighting disparities in training opportunities, and discussing the broader socio-economic impacts on pediatric healthcare, represent a crucial consideration for the healthcare system in the future.</p><p><strong>Main body: </strong>The Italian National Association of Pediatric Residents (\"Osservatorio Nazionale Specializzandi in Pediatria\", ONSP) conducted an extensive survey among pediatric residents to assess the current state of pediatric residency. Key findings indicate that 50% of respondents believe the number of residents is excessive for the available training opportunities, leading to concerns about the quality of education and hands-on experience. Despite the increased number of residents, the workload has increased, but up to one-third of residents feel that the autonomy provided by their programs is insufficient. Significant disparities in training quality were found across different regions, with notable shortages in neonatology and pediatric emergency departments. Research opportunities are also limited, with only 17% of residents finding the time allocated to research satisfactory, especially in central and southern Italy.</p><p><strong>Conclusion: </strong>The increase in pediatric residents presents both challenges and opportunities. Addressing these challenges through strategic reforms, such as implementing standardized national curricula, investing in training resources and mobility programs, and enhancing research opportunities, is crucial for the future of pediatric residency in Italy. Ensuring high-quality training for all residents is an ethical and practical obligation that will significantly impact pediatric healthcare.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"50 1","pages":"206"},"PeriodicalIF":3.2,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11463055/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142390549","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":"Relationship between platelet count and severity of neonatal respiratory distress syndrome.","authors":"Ying Zeng, Hai Ying Yi, Yuan He, Bin Gan, Xian Wei, Jie Huang, Shu Jie Yang","doi":"10.1186/s13052-024-01762-2","DOIUrl":"10.1186/s13052-024-01762-2","url":null,"abstract":"<p><strong>Background: </strong>Neonatal respiratory distress syndrome (NRDS) is a primary cause of morbidity and mortality in premature infants. Platelets have a unique role in lung repair and remodeling. This study aimed to determine the relationship between platelet count and NRDS severity.</p><p><strong>Methods: </strong>The study included 234 newborns diagnosed with NRDS from January 2019 to August 2023. This study employed two methods of grouping: the first based on platelet count, dividing participants into thrombocytopenia (platelet count < 150 × 10⁹/L, n = 50) and non-thrombocytopenia groups (platelet count ≥ 150 × 10⁹/L, n = 184), and the second based on the severity of NRDS, categorizing them into severe (n = 24) and mild-moderate (n = 210) groups. Within the first grouping method, the thrombocytopenia group was further subdivided into moderate-severe group (platelet count < 100 × 10⁹/L, n = 4) and mild group (platelet count was between 100.0 × 10⁹/L and 150.0 × 10⁹/L, n = 46). This study aimed to analyze the clinical characteristics of NRDS with thrombocytopenia, explore the correlation between platelet count and clinical indicators of NRDS. Binary Logistic regression analysis was employed to identify independent risk factors for thrombocytopenia in NRDS.</p><p><strong>Results: </strong>A higher proportion of newborns in the severe group exhibited thrombocytopenia (severe group = 41.7%, mild-moderate group = 19.0%). Hospital stay, ventilation time, oxygen therapy duration were longer in the thrombocytopenia group compared to the non-thrombocytopenia group. Hospital stay, ventilation time, oxygen therapy duration, chest radiography score, and C-reactive protein (CRP) levels were inversely associated with platelet count. Conversely, Apgar scores at 1 and 5 min, gestational age, and birth weight showed positive correlations with platelet count. Point-biserail correlation showed that thrombocytopenia was more likely to occur in newborns whose mothers had gestational hypertension, and the lower platelet count, the more severe NRDS. Oxygen therapy duration, birth weight < 1500 g, gestational hypertension and CRP levels emerged as independent risk factors for thrombocytopenia in NRDS. All differences were statistically significant (p all < 0.05).</p><p><strong>Conclusion: </strong>NRDS accompanied by thrombocytopenia indicates a more severe condition and poorer clinical outcomes. It is hypothesized that NRDS with thrombocytopenia involves a complex multifactorial etiology, including severe lung inflammation.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"50 1","pages":"208"},"PeriodicalIF":3.2,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11462692/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142390572","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":"Cardiometabolic risk in children and adolescents with obesity: a position paper of the Italian Society for Pediatric Endocrinology and Diabetology.","authors":"Giuliana Valerio, Procolo Di Bonito, Valeria Calcaterra, Valentino Cherubini, Domenico Corica, Luisa De Sanctis, Anna Di Sessa, Maria Felicia Faienza, Elena Fornari, Lorenzo Iughetti, Maria Rosaria Licenziati, Melania Manco, Emanuele Miraglia Del Giudice, Anita Morandi, Mariacarolina Salerno, Maria Elisabeth Street, Giuseppina Rosaria Umano, Malgorzata Wasniewska, Claudio Maffeis","doi":"10.1186/s13052-024-01767-x","DOIUrl":"10.1186/s13052-024-01767-x","url":null,"abstract":"<p><p>Despite the implementation of preventive measures to counteract the obesity epidemics, the prevalence of childhood obesity is still alarming all over the world. Childhood obesity is the most common risk factor for both cardiovascular and metabolic diseases. In fact, an earlier onset of obesity can cause a greater risk of adiposity tracking across the lifespan and consequently a longer exposure to cardiometabolic risk factors. Accumulating evidence provided by prospective and intervention studies demonstrated the link between pediatric obesity and selected subclinical signs of cardiovascular damage (atherosclerosis and left ventricular hypertrophy), or fatal and not fatal cardiovascular events as early as 40 years of age.The numerous guidelines and scientific documents published in the last years demonstrate the relevance of assessing cardiometabolic risk factors in children and adolescents with OB.This Position paper, released by experts of the \"Childhood Obesity study group\" within the Italian Society for Pediatric Endocrinology and Diabetology, aims to review the assessment of cardiometabolic risk factors and comorbidities in children and adolescents with OW/OB on the light of the most recent scientific evidence.The main recommendations are: (a) early detection of comorbidities, including hypertension, dyslipidemia, prediabetes/type 2 diabetes, metabolic dysfunction-associated steatotic liver disease, polycystic ovary syndrome, inactivity, obstructive sleep apnea and decline in kidney function; (b) weight loss treatment, which is associated with a reduction of all cardiometabolic risk factors; (c) specific treatment of comorbidities, through lifestyle modifications or pharmacological treatment added to lifestyle for suitable individuals; d). monitoring comorbidities for mitigating future morbidity and mortality.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"50 1","pages":"205"},"PeriodicalIF":3.2,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11463079/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142390548","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 diagnosis and management of mucopolysaccharidosis type II.","authors":"Shao-Jia Mao, Qing-Qing Chen, Yang-Li Dai, Guan-Ping Dong, Chao-Chun Zou","doi":"10.1186/s13052-024-01769-9","DOIUrl":"10.1186/s13052-024-01769-9","url":null,"abstract":"<p><p>Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive inherited lysosomal storage disease. With pathogenic variants of the IDS gene, the activity of iduronate-2-sulfatase (IDS) is reduced or lost, causing the inability to degrade glycosaminoglycans (GAGs) in cells and influencing cell function, eventually resulting in multisystemic manifestations, such as a coarse face, dysostosis multiplex, recurrent respiratory tract infections, and hernias. Diagnosing MPS II requires a combination of clinical manifestations, imaging examinations, urinary GAGs screening, enzyme activity, and genetic testing. Currently, symptomatic treatment is the main therapeutic approach. Owing to economic and drug availability issues, only a minority of patients opt for enzyme replacement therapy or hematopoietic stem cell transplantation. The limited awareness of the disease, the lack of widespread detection technology, and uneven economic development contribute to the high rates of misdiagnosis and missed diagnosis in China.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"50 1","pages":"207"},"PeriodicalIF":3.2,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11463001/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142390574","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":"Triheptanoin in patients with long-chain fatty acid oxidation disorders: clinical experience in Italy.","authors":"Francesco Porta, Arianna Maiorana, Vincenza Gragnaniello, Elena Procopio, Serena Gasperini, Roberta Taurisano, Marco Spada, Carlo Dionisi-Vici, Alberto Burlina","doi":"10.1186/s13052-024-01782-y","DOIUrl":"https://doi.org/10.1186/s13052-024-01782-y","url":null,"abstract":"<p><strong>Background: </strong>Long-chain fatty acid oxidation disorders (LC-FAOD) are rare and potentially life-threatening diseases that cause deficient energy production and accumulation of toxic metabolites. Despite dietary management, adherence to maximum fasting guidelines, restricted long-chain triglyceride intake and supplementation with medium-chain triglyceride (MCT) oil (current standard of care), most patients experience recurrent decompensation episodes that can require hospitalisation. Herein, we analysed the effectiveness and safety of triheptanoin (a highly purified, synthetic medium odd-chain triglyceride) treatment in a cohort of Italian patients with LC-FAOD.</p><p><strong>Methods: </strong>This retrospective, nationwide study included nine patients with LC-FAOD who switched from standard therapy with MCT oil to triheptanoin oral liquid. Data were collected between 2018 and 2022. Clinical outcome measures were the number and duration of intercurrent catabolic episodes and number and duration of metabolic decompensation episodes requiring hospitalisation. Creatine kinase (CK) levels and treatment-related adverse effects were also reported.</p><p><strong>Results: </strong>Patients were provided a mean ± standard deviation (SD) triheptanoin dose of 1.5 ± 0.9 g/kg/day in four divided administrations, which accounted for 23.9 ± 8.9% of patients' total daily caloric intake. Triheptanoin treatment was started between 2.7 and 16 years of age and was continued for 2.2 ± 0.9 years. The number of intercurrent catabolic episodes during triheptanoin treatment was significantly lower than during MCT therapy (4.3 ± 5.3 vs 22.0 ± 22.2; p = 0.034), as were the number of metabolic decompensations requiring hospitalisation (mean ± SD: 2.0 ± 2.5 vs 18.3 ± 17.7; p = 0.014), and annualised hospitalisation rates and duration. Mean CK levels (outside metabolic decompensation episodes) were lower with triheptanoin treatment versus MCT oil for seven patients. No intensive care unit admissions were required during triheptanoin treatment. Epigastric pain and diarrhoea were recorded as adverse effects during both MCT and triheptanoin treatment.</p><p><strong>Conclusions: </strong>The significant improvement in clinical outcome measures after the administration of triheptanoin highlights that this treatment approach can be more effective than MCT supplementation in patients with LC-FAOD. Triheptanoin was well tolerated and decreased the number of intercurrent catabolic episodes, metabolic decompensation episodes requiring hospitalisation, and the annualised rate and duration of hospitalisations.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"50 1","pages":"204"},"PeriodicalIF":3.2,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11460043/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142390575","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}