World Journal of Pediatrics最新文献

{"title":"FLNB haploinsufficiency-related short stature: a new syndrome or an expanded spectrum of Larsen syndrome.","authors":"Qing Wang, Hong-Ying Wang, Shui-Yan Wu, Xue-Qian Wang, Hai-Ying Wu, Rong-Rong Xie, Feng-Yun Wang, Xiu-Li Chen, Lin-Qi Chen, Hai-Tao Lv, Ting Chen","doi":"10.1007/s12519-024-00832-z","DOIUrl":"10.1007/s12519-024-00832-z","url":null,"abstract":"","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"976-980"},"PeriodicalIF":6.1,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141856642","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"National trends in sexual intercourse and usage of contraception among Korean adolescents.","authors":"Jun Hyuk Lee, Myeongcheol Lee, Hojae Lee, Jaeyu Park, Sunyoung Kim, Ai Koyanagi, Lee Smith, Min Seo Kim, Guillermo F López Sánchez, Elena Dragioti, Masoud Rahmati, Jiseung Kang, Hans Oh, Dong Keon Yon","doi":"10.1007/s12519-024-00810-5","DOIUrl":"10.1007/s12519-024-00810-5","url":null,"abstract":"<p><strong>Background: </strong>The exact influence of the COVID-19 pandemic on sexual intercourse and usage of contraception remains largely uncharted territory. To bridge this gap in knowledge, we conducted a comprehensive, cross-sectional examination of long-term trends in the prevalence of sexual intercourse and usage of contraception among South Korean adolescents from 2006 to 2022.</p><p><strong>Methods: </strong>In our research, we drew upon data encompassing 1,138,799 South Korean adolescents aged 12 to 18 years, derived from the Korean Youth Risk Behavior Web-based Survey (KYRBS) over a period spanning from 2006 to 2022. We focused on the prevalence of sexual intercourse, contraception utilization, and the underlying associated factors among this demographic. The KYRBS data was collected using a complex sampling strategy to determine the national prevalence estimates and shifts in prevalence before (2006-2019) and during (2020-2022) the COVID-19 pandemic era.</p><p><strong>Results: </strong>During the pre-pandemic period, a decrease in adolescent sexual intercourse was observed (6.34% in 2006, 5.53% in 2012, and 5.87% in 2019). However, in the post-pandemic period (2020-2022), there was a surge in sexual intercourse (4.55% in 2020 and 6.20% in 2022). This evident alteration in sexual intercourse trajectory between pre- and post-pandemic periods was statistically significant [β_diff, 0.950; 95% confidence interval (CI), 0.756-1.144]. Regarding contraceptive use among South Korean adolescents, there was an increase in the pre-COVID-19 pandemic phase across all demographic segments (14.61% in 2006, 22.30% in 2012, and 47.69% in 2022) but a notable decline when compared with the pre- and post-pandemic periods (β_diff, - 0.319; 95% CI, - 0.454 to - 0.184). Additionally, during the study period, a decrease in sexual intercourse was observed in the pre-pandemic period (β, - 0.129; 95% CI, - 0.148 to - 0.110), followed by an increase in the post-pandemic period (β, 0.821; 95% CI, 0.627 to 1.014). This shift is highlighted by an effect size of 0.96 [weighted odds ratio (wOR); 95% CI, 0.92 to 1.00], indicating a substantial change in adolescent sexual behaviors across study periods.</p><p><strong>Conclusions: </strong>The increase in sexual intercourse and decrease in usage of contraception observed in our study between the pre- and post-COVID-19 periods suggests a potential threat to sexual health among South Korean adolescents. This trend emphasizes the ongoing necessity of raising awareness about adolescent sexual behavior in South Korea.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"935-948"},"PeriodicalIF":6.1,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141421183","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Intervention at an early threshold for post-hemorrhagic ventricular dilatation in preterm infants: a systematic review and meta-analysis.","authors":"Patrick Blundell, Lloyd Abood, Mallinath Chakraborty, Sujoy Banerjee","doi":"10.1007/s12519-024-00827-w","DOIUrl":"10.1007/s12519-024-00827-w","url":null,"abstract":"<p><strong>Background: </strong>Very few adequately powered studies exploring early thresholds for intervention in the management of post-hemorrhagic ventricular dilatation (PHVD) in preterm infants have identified consistent neurodevelopmental advantages at 12-30 months. We aimed to conduct a meta-analysis on the efficacy and safety of early versus conservative thresholds for intervention, primarily aimed at normalizing cerebrospinal fluid (CSF) pressure, in the management of PHVD in preterm infants.</p><p><strong>Methods: </strong>Multiple databases were searched for eligible papers, and prospective randomized trials involving preterm infants were selected. The results are expressed as relative risks (RRs) with 95% confidence intervals (CIs). The main outcome was survival without moderate-to-severe neurodevelopmental impairment at 12-30 months.</p><p><strong>Results: </strong>Ten articles representing seven randomized trials comparing early versus conservative thresholds for interventions were included. Five trials (n = 545 infants) reported no difference in the main outcome between early and conservative groups [RR 0.99 (0.71, 1.37)]. Sensitivity analysis excluding data from a medication trial did not alter the main outcome [RR 1.15 (0.95, 1.39)]. Infants in the early threshold group received significantly more interventions [RR 1.48 (1.05, 2.09)]. Deaths before discharge/during the initial study period [RR 1.04 (0.70, 1.54)] or a composite of death or shunt insertion [RR 1.04 (0.86, 1.27)] were comparable between the two groups.</p><p><strong>Conclusions: </strong>Early intervention for PHVD, before a clinical or ultrasound threshold is met, leads to additional clinical procedures but does not improve survival without moderate-severe neurodevelopmental impairment at 12-30 months. Caution should be exercised in interpreting these results due to significant variation between the studies. Supplementary file 3 (MP4 131172 kb).</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"774-786"},"PeriodicalIF":6.1,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141752857","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Accurate prediction of biliary atresia with an integrated model using MMP-7 levels and bile acids.","authors":"Yi-Jiang Han, Shu-Qi Hu, Jin-Hang Zhu, Xiao Cai, Deng-Ming Lai, Bao-Hai Chen, Kun Zhu, Qiao Tong, Xin-Rui Zhou, Jia-Le Deng, Jin-Fa Tou, Zhuo Fang, Li-Zhong Du","doi":"10.1007/s12519-023-00779-7","DOIUrl":"10.1007/s12519-023-00779-7","url":null,"abstract":"<p><strong>Background: </strong>Biliary atresia (BA) is a rare fatal liver disease in children, and the aim of this study was to develop a method to diagnose BA early.</p><p><strong>Methods: </strong>We determined serum levels of matrix metalloproteinase-7 (MMP-7), the results of 13 liver tests, and the levels of 20 bile acids, and integrated computational models were constructed to diagnose BA.</p><p><strong>Results: </strong>Our findings demonstrated that MMP-7 expression levels, as well as the results of four liver tests and levels of ten bile acids, were significantly different between 86 BA and 59 non-BA patients (P < 0.05). The computational prediction model revealed that MMP-7 levels alone had a higher predictive accuracy [area under the receiver operating characteristic curve (AUC) = 0.966, 95% confidence interval (CI): 0.942, 0.989] than liver test results and bile acid levels. The AUC was 0.890 (95% CI 0.837, 0.943) for liver test results and 0.825 (95% CI 0.758, 0.892) for bile acid levels. Furthermore, bile levels had a higher contribution to enhancing the predictive accuracy of MMP-7 levels (AUC = 0.976, 95% CI 0.953, 1.000) than liver test results. The AUC was 0.983 (95% CI 0.962, 1.000) for MMP-7 levels combined with liver test results and bile acid levels. In addition, we found that MMP-7 levels were highly correlated with gamma-glutamyl transferase levels and the liver fibrosis score.</p><p><strong>Conclusion: </strong>The innovative integrated models based on a large number of indicators provide a noninvasive and cost-effective approach for accurately diagnosing BA in children. Video Abstract (MP4 142103 KB).</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"822-833"},"PeriodicalIF":6.1,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11402860/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138886167","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Children with obesity have poorer circadian health as assessed by a global circadian health score.","authors":"María Rodríguez-Martín, Nuria Martínez-Lozano, Vicente Santaclara-Maneiro, Antonio Gris-Peñas, Diego Salmerón, Rafael Ríos, Asta Tvarijonaviciute, Marta Garaulet","doi":"10.1007/s12519-024-00804-3","DOIUrl":"10.1007/s12519-024-00804-3","url":null,"abstract":"<p><strong>Background: </strong>Circadian health refers to individuals' well-being and balance in terms of their circadian rhythm. It is influenced by external cues. In adults, a close relationship between circadian-related alterations and obesity has been described. However, studies in children are scarce, and circadian health and its association with obesity have not been evaluated globally. We aimed to assess whether circadian health differed between children with and without obesity as determined by a global circadian score (GCS) in a school-age population.</p><p><strong>Methods: </strong>Four hundred and thirty-two children (7-12 years) were recruited in Spain. Non-invasive tools were used to calculate the GCS: (1) 7-day rhythm of wrist temperature (T), activity (A), position (P), an integrative variable that combines T, A, and P (TAP); (2) cortisol; and (3) 7-day food and sleep records. Body mass index, body fat percentage, waist circumference (WC), melatonin concentration, and cardiometabolic marker levels were determined.</p><p><strong>Results: </strong>Circadian health, as assessed by the GCS, differed among children with obesity, overweight, and normal weight, with poorer circadian health among children with obesity. Children with obesity and abdominal obesity had 3.54 and 2.39 greater odds of having poor circadian health, respectively, than did those with normal weight or low WC. The percentage of rhythmicity, a marker of the robustness of the TAP rhythm, and the amplitude, both components of the GCS, decreased with increasing obesity. Different lifestyle behaviors were involved in the association between circadian health and obesity, particularly protein intake (P = 0.024), physical activity level (P = 0.076) and chronotype (P = 0.029).</p><p><strong>Conclusions: </strong>The GCS can capture the relationship between circadian health and obesity in school-age children. Protein intake, physical activity level, and chronotype were involved in this association. Early intervention based on improving circadian health may help to prevent childhood obesity.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"787-800"},"PeriodicalIF":6.1,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11402851/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141293777","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical heterogeneity and five phenotypes identified in pediatric Behçet's syndrome: a cohort study from Shanghai Behçet's syndrome database.","authors":"Dan Hu, Chun-Hui She, Hua-Fang Bao, Jun Zou, Jian-Fei Cai, Jing-Fen Ye, Yan Shen, Hai-Fen Ma, Dan Luo, Jian-Long Guan","doi":"10.1007/s12519-023-00785-9","DOIUrl":"10.1007/s12519-023-00785-9","url":null,"abstract":"<p><strong>Objectives: </strong>Behçet's syndrome (BS) is a rare disease of unknown etiology, with limited reports especially in pediatric BS. The clinical characteristics and phenotypes of pediatric BS as a highly heterogeneous variable vessel vasculitis were investigated in this study.</p><p><strong>Methods: </strong>A cross-sectional study was conducted to compare clinical variables and descriptive characteristics of BS by age of onset and gender. Cluster analysis was then performed to identify the phenotypes of pediatric BS.</p><p><strong>Results: </strong>A total of 2082 BS patients were included in this study, 1834 adults and 248 children. Compared with adult-onset BS, pediatric BS had a higher incidence of folliculitis [relative risks (RR) and 95% confidence interval (CI) 1.3 (1.0-1.5)], uveitis of the left eye [RR and 95% CI 2.3 (1.0-5.0)], intestinal ulcer complications [RR and 95% CI 2.1 (1.1-4.2)], pericarditis [RR and 95% CI 2.5 (1.0-6.2)], and psychiatric disorders [RR and 95% CI 2.8(1.0-7.9)], while the incidence of thrombocytopenia was lower [RR 0.2 (0.1-1.0)]. Among pediatric BS, females had more genital ulcers, while males were more likely to have skin lesions, panuveitis, vascular involvement, venous lesions, cardiac involvement, and aortic aneurysms. Cluster analysis classified pediatric BS into five clusters (C1-C5): C1 (n = 61, 24.6%) showed gastrointestinal (GI) involvement; C2 (n = 44, 17.7%) was the central nervous system (CNS) type where 23 cases overlapped joint involvement; in C3 (n = 35, 14.1%), all patients presented with arthritis or arthralgia; all patients in C4 (n = 29, 11.7%) manifested ocular involvement, with a few patients overlapping with GI involvement or joint damage; C5 (n = 79, 31.9%) was the mucocutaneous type, presenting both oral ulcers, genital ulcers, and skin lesions.</p><p><strong>Conclusions: </strong>The clinical features of pediatric and adult BS differ significantly. Male and female pediatric BS also have a distinct demography. Five phenotypes including GI, CNS, joint, ocular, and mucocutaneous types were identified for pediatric BS.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"801-808"},"PeriodicalIF":6.1,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11402839/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139693095","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Radiomics and artificial intelligence applications in pediatric brain tumors.","authors":"Francesco Pacchiano, Mario Tortora, Chiara Doneda, Giana Izzo, Filippo Arrigoni, Lorenzo Ugga, Renato Cuocolo, Cecilia Parazzini, Andrea Righini, Arturo Brunetti","doi":"10.1007/s12519-024-00823-0","DOIUrl":"10.1007/s12519-024-00823-0","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;The study of central nervous system (CNS) tumors is particularly relevant in the pediatric population because of their relatively high frequency in this demographic and the significant impact on disease- and treatment-related morbidity and mortality. While both morphological and non-morphological magnetic resonance imaging techniques can give important information concerning tumor characterization, grading, and patient prognosis, increasing evidence in recent years has highlighted the need for personalized treatment and the development of quantitative imaging parameters that can predict the nature of the lesion and its possible evolution. For this purpose, radiomics and the use of artificial intelligence software, aimed at obtaining valuable data from images beyond mere visual observation, are gaining increasing importance. This brief review illustrates the current state of the art of this new imaging approach and its contributions to understanding CNS tumors in children.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Data sources: &lt;/strong&gt;We searched the PubMed, Scopus, and Web of Science databases using the following key search terms: (\"radiomics\" AND/OR \"artificial intelligence\") AND (\"pediatric AND brain tumors\"). Basic and clinical research literature related to the above key research terms, i.e., studies assessing the key factors, challenges, or problems of using radiomics and artificial intelligence in pediatric brain tumors management, was collected.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;A total of 63 articles were included. The included ones were published between 2008 and 2024. Central nervous tumors are crucial in pediatrics due to their high frequency and impact on disease and treatment. MRI serves as the cornerstone of neuroimaging, providing cellular, vascular, and functional information in addition to morphological features for brain malignancies. Radiomics can provide a quantitative approach to medical imaging analysis, aimed at increasing the information obtainable from the pixels/voxel grey-level values and their interrelationships. The \"radiomic workflow\" involves a series of iterative steps for reproducible and consistent extraction of imaging data. These steps include image acquisition for tumor segmentation, feature extraction, and feature selection. Finally, the selected features, via training predictive model (CNN), are used to test the final model.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;In the field of personalized medicine, the application of radiomics and artificial intelligence (AI) algorithms brings up new and significant possibilities. Neuroimaging yields enormous amounts of data that are significantly more than what can be gained from visual studies that radiologists can undertake on their own. Thus, new partnerships with other specialized experts, such as big data analysts and AI specialists, are desperately needed. We believe that radiomics and AI algorithms have the potential to move beyond their restricted use in researc","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"747-763"},"PeriodicalIF":6.1,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11402857/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141459665","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"ARHGAP4 variants are associated with X-linked early-onset temporal lobe epilepsy.","authors":"Yuan-Yuan Hu, Wang Song, Zhi-Gang Liu, Xing-Guang Ye, Hong-Wei Zhang, Xin Li, Jun-Xia Luo, Peng-Yu Wang, Jie Wang, Xiao-Fei Lin, Hong-Li Zhu, Wei-Ping Liao, Bin Li, Xu-Qin Chen","doi":"10.1007/s12519-024-00830-1","DOIUrl":"10.1007/s12519-024-00830-1","url":null,"abstract":"","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"859-867"},"PeriodicalIF":6.1,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141767608","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Differentiating rhythmic high-amplitude delta with superimposed (poly) spikes from extreme delta brushes: limitations of standardized nomenclature and implications for patient management.","authors":"Rene Andrade-Machado, Elham Abushanab, Namrata D Patel, Avantika Singh","doi":"10.1007/s12519-024-00816-z","DOIUrl":"10.1007/s12519-024-00816-z","url":null,"abstract":"<p><strong>Background: </strong>Following the standardized nomenclature proposed by the American Clinical Neurophysiology Society (ACNS), rhythmic high-amplitude delta activity with superimposed spikes (RHADS) can be reported as an extreme delta brush (EDB). The clinical implications of similar electrographic patterns being reported as RHADS versus EDB are important to highlight. We aim to review the electrographic characteristics of RHADS, evaluate whether RHADS is seen in other neurological disorders, and identify the similar and unique characteristics between RHADS and EDB to ultimately determine the most accurate way to differentiate and report these patterns. We believe that the differentiation of RHADS and EDB is important as there is a vast difference in the diagnostic approach and the medical management of associated underlying etiologies.</p><p><strong>Data source: </strong>We conducted an extensive search on MEDLINE and Pubmed utilizing various combinations of keywords. Searching for \"gamma polymerase and EEG\", or \"RHADS\" or \"Alpers syndrome and EEG\" or \"EEG\" AND \"Alpers-Huttenlocher syndrome\".</p><p><strong>Results: </strong>Three articles were found to be focused on the description of \"RHADS\" pattern in Alpers Syndrome. No publication to date were found when searching for the terms \"EDB\" AND \"children\", AND \"infant\" AND \"adolescent\" excluding \"encephalitis\" and \"neonate\". Although RHADS and EDB appear as similar EEG patterns, meticulous analysis can differentiate them. RHADS is not exclusive to patients with Alpers-Huttenlocher syndrome and may manifest in regions beyond the posterior head region. Reactivity to eye-opening and response to anesthesia can be two other elements that help in the differentiation of these patterns.</p><p><strong>Conclusion: </strong>RHADS is not exclusive to patients with AHS and may manifest in regions beyond the posterior head region. Reactivity to eye-opening and response to anesthesia are features that help in the differentiation of these patterns.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"764-773"},"PeriodicalIF":6.1,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141601909","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long-term clinical outcomes and health-related quality of life in patients with isolated methylmalonic acidemia after liver transplantation: experience from the largest cohort study in China.","authors":"Yi-Zhou Jiang, Guang-Peng Zhou, Lin Wei, Wei Qu, Zhi-Gui Zeng, Ying Liu, Yu-Le Tan, Jun Wang, Zhi-Jun Zhu, Li-Ying Sun","doi":"10.1007/s12519-023-00780-0","DOIUrl":"10.1007/s12519-023-00780-0","url":null,"abstract":"<p><strong>Background: </strong>Liver transplantation (LT) has been proposed as a viable treatment option for selected methylmalonic acidemia (MMA) patients. However, there are still controversies regarding the therapeutic value of LT for MMA. The systematic assessment of health-related quality of life (HRQoL)-targeted MMA children before and after LT is also undetermined. This study aimed to comprehensively assess the long-term impact of LT on MMA, including multiorgan sequelae and HRQoL in children and families.</p><p><strong>Methods: </strong>We retrospectively evaluated 15 isolated MMA patients undergoing LT at our institution between June 2013 and March 2022. Pre- and post-transplant data were compared, including metabolic profiles, neurologic consequences, growth parameters, and HRQoL. To further assess the characteristics of the HRQoL outcomes in MMA, we compared the results with those of children with biliary atresia (BA).</p><p><strong>Results: </strong>All patients had early onset MMA, and underwent LT at a mean age of 4.3 years. During 1.3-8.2 years of follow-up, the patient and graft survival rates were 100%. Metabolic stability was achieved in all patients with liberalized dietary protein intake. There was a significant overall improvement in height Z scores (P = 0.0047), and some preexisting neurological complications remained stable or even improved after LT. On the Pediatric Quality of Life Inventory (PedsQL™) generic core scales, the mean total, physical health, and psychosocial health scores improved significantly posttransplant (P < 0.05). In the family impact module, higher mean scores were noted for all subscales post-LT, especially family function and daily activities (P < 0.01). However, the total scores on the generic core scales and transplant module were significantly lower (Cohen's d = 0.57-1.17) when compared with BA recipients. In particular, social and school functioning (Cohen's d = 0.86-1.76), treatment anxiety, and communication (Cohen's d = 0.99-1.81) were far behind, with a large effect size.</p><p><strong>Conclusions: </strong>This large single-center study of the mainland of China showed an overall favorable impact of LT on isolated MMA in terms of long-term survival, metabolic control, and HRQoL in children and families. The potential for persistent neurocognitive impairment and inherent metabolic fragility requires long-term special care. Video Abstract (MP4 153780 KB).</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"809-821"},"PeriodicalIF":6.1,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11402840/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139378343","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}