BMC Pediatrics最新文献

{"title":"Determinants of vaccination status among Somali children: evidence from a Countrywide cross-sectional survey.","authors":"Mohamed Said Hassan, Md Moyazzem Hossain","doi":"10.1186/s12887-024-05334-5","DOIUrl":"10.1186/s12887-024-05334-5","url":null,"abstract":"<p><strong>Background: </strong>Immunization is the process of administering a vaccine to stimulate the development of immunity against an infectious agent, with the primary goal of preventing the illness that the infection causes. The authors aim to examine determinants of vaccination coverage among Somali children.</p><p><strong>Methods: </strong>The authors used secondary data from the Somali Demographic Health Survey (SDHS)-2020. After removing the missing values, the final sample consists of 9290 children under 5 years of age. The study used descriptive statistics with percentages and frequencies. It also used chi-square to check the association between risk factors and vaccination status. Multivariate logistic regression is employed to analyze the data.</p><p><strong>Results: </strong>Findings revealed that the determinants of vaccination were the child's current age (AOR: 0.624; 95% Cl: 0.489, 0.797), maternal education level (AOR: 0.706; 95% Cl: 0.588, 0.849), family income level (AOR: 0.390; 95% Cl: 0.316, 0.483), number of ANC visit (AOR: 0.369; 95% Cl: 0.293, 0.464), birth order (AOR: 1.303; 95% Cl: 1.098, 1.548) and residence (AOR: 0.643; 95% Cl: 0.548, 0.755). Mothers who have high levels of education have a high chance of vaccinating their children.</p><p><strong>Conclusion: </strong>The study identified child age, birth order, maternal level of education, residence, family income, and number of ANC visits, were the contributors to the low vaccination intake among children. Women from poor households, with low educational levels, and who have the least visits to ANC should be targeted to increase the vaccination coverage of Somali children. Therefore, there is a need for policymakers to develop interventions targeting the less focused groups that aim at solving the problem.</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":"24 1","pages":"837"},"PeriodicalIF":2.0,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11674325/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142892147","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":"A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia.","authors":"Guoying Chang, Fan Yang, Lingwen Ying, Qianwen Zhang, Biyun Feng, Yao Chen, Yu Ding, Tingting Yu, Ruen Yao, Kana Lin, Juan Li, Xiumin Wang","doi":"10.1186/s12887-024-05329-2","DOIUrl":"10.1186/s12887-024-05329-2","url":null,"abstract":"<p><p>The ARCN1 gene encodes the delta subunit of the coatomer protein complex I (COPI), which is essential for mediating protein transport from the Golgi complex to the endoplasmic reticulum. Variants in ARCN1 are associated with clinical features such as microcephaly, microretrognathia, intrauterine growth restriction, short rhizomelic stature, and developmental delays. We present a case of a patient exhibiting intrauterine growth restriction, preterm birth, microcephaly, micrognathia, and central precocious puberty. Whole-exome sequencing identified a novel splice-site variant, NM_001655.5: c.1241 + 1G > A, in the ARCN1 gene. To our knowledge, this is the first documented case of ARCN1-related syndrome associated with central precocious puberty, contributing to the understanding of the disease phenotype.</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":"24 1","pages":"838"},"PeriodicalIF":2.0,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11674155/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142892140","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":"Cognitive functioning in children and adolescents with cerebral palsy: protocol for the Danish CPCog-Youth study.","authors":"Camilla Funch Uhre, Ida Dyhr Caspersen, Carsten Lose, Gija Rackauskaite, Ro Robotham, Christina E Hoei-Hansen","doi":"10.1186/s12887-024-05305-w","DOIUrl":"10.1186/s12887-024-05305-w","url":null,"abstract":"<p><strong>Background: </strong>Many children and adolescents with cerebral palsy (CP) experience cognitive difficulties, impacting their academic, social, and emotional well-being. A Danish study from 2023 revealed that merely 40% of individuals with CP complete their elementary school education, and previous neuropsychological studies have found that most children and adolescents with CP experience cognitive difficulties. Yet, cognitive functioning is often assumed rather than assessed, and CP follow-up programs focus predominantly on physical functioning. Recognizing this gap, we aim to investigate cognitive functioning in children and adolescents with CP in mainstream schools in Denmark, using standardized neuropsychological tests. Our objective is to provide valuable insights to guide clinical practice on cognitive assessment and intervention, ultimately fostering a more effective support system for individuals with CP.</p><p><strong>Methods: </strong>The study employs a cross-sectional design, involving 100 children and adolescents with CP aged 11-15 years attending mainstream schools in Denmark. Cognitive assessment includes the core battery from a proposed Nordic test protocol for children and adolescents with CP - the CPCog - encompassing general cognitive functioning (intelligence), executive functions, and visuo-motor skills. Supplementary tests cover verbal and nonverbal short-term memory, attention, fatigue, and mental health. The assessment protocol will also be evaluated by parents of participating children and adolescents with CP. The project is conducted collaboratively by the neuropsychological teams at three assessment sites, in conjunction with the Center for Cerebral Palsy, Rigshospitalet, Aarhus University Hospital, and Aalborg University Hospital. The study benefits from an external advisory board comprising leading international CP experts.</p><p><strong>Discussion: </strong>Cognitive difficulties in children and adolescents with CP are often overlooked. Few cognitive studies exist, with some providing only estimated cognitive functioning. The CPCog-Youth study will help advance our understanding of the cognitive challenges experienced by children and adolescents attending mainstream schools. The findings will contribute to the development of targeted cognitive assessment and intervention programs for individuals with CP, addressing this commonly neglected aspect of care. By also seeking feedback from participating families and the involved neuropsychologists, we aim to investigate whether the proposed cognitive assessment is feasible and beneficial in real-world settings.</p><p><strong>Trial registration: </strong>The study was registered on ClinicalTrials.gov on June 27, 2023 (ID: NCT05921422).</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":"24 1","pages":"836"},"PeriodicalIF":2.0,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11673341/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142892146","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":"Association between fundamental movement skills and accelerometer-measured physical activity in orphan children with severe intellectual disabilities.","authors":"Lei Zhang, Dandan Wang, Xueping Wu","doi":"10.1186/s12887-024-05333-6","DOIUrl":"10.1186/s12887-024-05333-6","url":null,"abstract":"<p><strong>Background: </strong>Children with intellectual disabilities (ID) typically exhibit low levels of physical activity (PA) and delayed motor skills. Understanding the motor skill factors that influence PA participation in this population is essential for designing effective interventions. The purpose of this study was to examine the association between fundamental motor skills (FMS) and objectively measured PA among orphan children with severe ID residing in welfare institutions.</p><p><strong>Methods: </strong>An institution-based cross-sectional study was undertaken from January 2019 and October 2020. A total of 267 children (180 boys and 87 girls) with severe ID, with a mean age of 10.51 years, from 12 cities' welfare institutions in China were included. FMS were assessed using the Test of Gross Motor Development-Second Edition (TGMD-2). PA was objectively measured by an ActiGraph GT3X + accelerometer. Multiple linear regression to examine associations between two FMS components (object control skills and locomotor skills) and PA (weekday and weekend day PA), separately.</p><p><strong>Results: </strong>Children with severe ID living in welfare institutions displayed relatively low weekly PA, with mean moderate to vigorous PA (MVPA, ≥ 2800 counts/min) of 33.29 (range: 16.43-59.86) minutes. Pearson correlation indicated that light PA (100-2,799 counts/min), MVPA, and total PA showed moderate but positive correlations with both locomotor skills (range: r = 0.359-0.433) and object control skills (range: r = 0.381-0.449). Regression analysis indicated that object control skills explained more of the total variance than locomotor skills for weekly light PA (β = 0.287 vs. β = 0.243, p < 0.05) and MVPA (β = 0.331 vs. β = 0.0292, p < 0.05).</p><p><strong>Conclusions: </strong>FMS may predict participation in regular PA among children with severe ID, with object control skills more predictive than locomotor skills. Developing FMS in children with severe ID may be an important strategy for improving their PA levels.</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":"24 1","pages":"841"},"PeriodicalIF":2.0,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11674458/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142892143","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":"Onset and predictors of first-line antiretroviral therapy treatment failure among children in Ethiopia: a systematic review and meta-analysis.","authors":"Molla Yigzaw Birhanu, Getamesay Molla Bekele, Bekalu Endalew, Simegn Alemu, Cheru Tesema Lashargie, Dereje Ayalew Birhanu, Assefa Mulualem, Selamawit Shita Jemberie","doi":"10.1186/s12887-024-05324-7","DOIUrl":"10.1186/s12887-024-05324-7","url":null,"abstract":"<p><strong>Introduction: </strong>The emergence of First-line Antiretroviral Therapy (ART) regimens fails; it necessitates the use of more costly and less tolerable second-line medications. Therefore, it is crucial to identify and address factors that increase the likelihood of first-line ART regimen failure in children. Although numerous primary studies have examined the incidence of first-line ART failure among HIV-infected children in Ethiopia, national-level data on the onset and predictors remain inconsistent. Hence, this study was conducted to fill the gaps in determining the onset of first-line ART failure and its predictors among HIV-infected children in Ethiopia.</p><p><strong>Methods: </strong>Articles related to our topic of interest were searched using a systematic approach in national and international electronic databases. The retrospective follow-up cohort studies published in English up to 2022 were included. The data were extracted using a Microsoft Excel spread sheet and exported into Stata™ Version 17.0 for further management and analysis. The level of heterogeneity was quantified using I² test together with a 95% confidence interval (CI). The incidence of the primary estimates was estimated using a random effects model in the Dersimonian-Lairedmethod. Subgroup analysis, Meta regression, and sensitivity analysis were computed to identify the source of heterogeneity but not explained. The predictors of first-line ART failure were explained using relative risk (RR) with 95% confidence interval (CI).</p><p><strong>Results: </strong>Ten studies having a total of 5446 children were included. The pooled onset of first-line ART failure was 3.18 (95% CI: 1.91, 4.44) per 100 child-years of observations. Those study participants who began ART at an advanced WHO clinical stage at ART initiation had a 3.05 (95% CI: 1.47, 6.36), having poor ART adherence had a 2.19 (95% CI: 1.29, 3.70), and having TB-HIV coinfection at ART initiation had a 1.43 (95% CI: 1.06, 1.94) times higher chance of experiencing first-line ART failure than their corresponding counterparts.</p><p><strong>Conclusion: </strong>The onset of first-line ART failure was high to achieve the 2030 UNAIDS target of ending the AIDS epidemic. Advanced WHO clinical stage, poor first-line ART adherence, and having TB-HIV coinfection were identified predictors. Hence, community HIV screening should continue to strengthen early ART initiation, and the attention of ART adherence should be kept to achieve ending the AIDS epidemic. The baseline tests and diagnosis, like TB diagnosis should be maintained for HIV-infected children while they begin ART.</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":"24 1","pages":"839"},"PeriodicalIF":2.0,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11673881/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142891624","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":"Assessment of the safety and gut microbiota modulation ability of an infant formula containing Bifidobacterium animalis ssp. lactis CP-9 or Lactobacillus salivarius AP-32 and the effects of the formula on infant growth outcomes: insights from a four-month clinical study in infants under two months old.","authors":"Shang-Po Shen, Hung-Chih Lin, Jui-Fen Chen, Hui-Shan Wang, Yen-Yu Huang, Ko-Chiang Hsia, Jia-Hung Lin, Yi-Wei Kuo, Ching-Min Li, Yu-Chieh Hsu, Shin-Yu Tsai, Hsieh-Hsun Ho","doi":"10.1186/s12887-024-05289-7","DOIUrl":"10.1186/s12887-024-05289-7","url":null,"abstract":"<p><strong>Background: </strong>Breast milk is a natural treasure for infants, and its microbiota contains a rich array of bacterial species. When breastfeeding is not possible, infant formula with probiotics can be used as a sole source or as a breast milk supplement. The main aim of this study was to evaluate the growth outcomes and tolerance of infants consuming an infant formula containing Bifidobacterium animalis ssp. lactis CP-9 (B. animalis CP-9) or Lactobacillus salivarius AP-32 (L. salivarius AP-32), which were isolated from breast milk and the guts of healthy infants. The safety of these strains in terms of antibiotic resistance and their ability to modulate the gut microbiota were also evaluated.</p><p><strong>Methods: </strong>One hundred eighty healthy infants were included in this study and separated into three groups: the control group, the L. salivarius AP-32 group, and the B. animalis CP-9 group. In this clinical study, adverse events, growth effects, and the incidence of allergies and gastrointestinal disorders in infants consuming infant formula containing B. animalis CP-9 or L. salivarius AP-32 were evaluated. Finally, the impact of the probiotic infant formula on the gut microbiota was elucidated via next-generation sequencing (NGS) analysis.</p><p><strong>Results: </strong>The 4-month interventional study revealed that body weight, recumbent length, and head circumference were similar among the three groups. No adverse events related to the intervention were observed. The microbiota composition was more diverse on day 0 and became more uniform by month 4. B. animalis CP-9 and L. salivarius AP-32 were found to be susceptible to streptomycin, tetracycline, erythromycin, clindamycin, chloramphenicol, and ampicillin.</p><p><strong>Conclusions: </strong>The use of infant formula containing B. animalis CP-9 and L. salivarius AP-32 was considered safe and well tolerated, with no adverse events observed during the study. While these strains showed low antibiotic resistance and no immediate concerns related to antibiotic resistance genes, further research is needed to comprehensively assess their long-term safety and efficacy and the potential risk of horizontal gene transfer in broader contexts.</p><p><strong>Trial registration: </strong>The trial was registered with the US Library of Medicine (clinicaltrials.gov) with the number NCT03993301 on 20/06/2019.</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":"24 1","pages":"840"},"PeriodicalIF":2.0,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11674581/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142892142","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":"Assessment of recurrent fever among children undergoing tonsillectomy.","authors":"Mana Espahbodi, Kathryn M Edwards, Steven L Goudy, Edward B Penn, Kalpana Manthiram","doi":"10.1186/s12887-024-05312-x","DOIUrl":"10.1186/s12887-024-05312-x","url":null,"abstract":"<p><strong>Background: </strong>Recurrent tonsillitis is a common indication for tonsillectomy in children and has phenotypic overlap with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome. We sought to characterize symptoms associated with PFAPA among children undergoing tonsillectomy.</p><p><strong>Methods: </strong>Parents/guardians of children undergoing tonsillectomy at Vanderbilt Children's Hospital over a six-week period were queried regarding symptoms of recurrent fever. Follow-up questionnaires were administered 3 and 12 months after tonsillectomy.</p><p><strong>Results: </strong>82% (120/147) of patients who underwent tonsillectomy during the study period participated. Provider-documented indications for tonsillectomy were obstructive sleep apnea in 88% and recurrent tonsillitis in 33%. 11% (13/120) reported[Formula: see text]6 episodes of stereotypical fever in a one-year period. During febrile episodes among these 13 subjects, 11 had tonsillitis, 5 had cervical adenitis, 3 had aphthous stomatitis, and three reported regular and predictable episode timing. In addition, participants with ≥3 episodes/year of recurrent febrile tonsillitis (N = 33) had a significantly higher prevalence of recurrent aphthous ulcers than those without recurrent tonsillitis (24% vs. 9%, p = 0.04). All participants, including those with recurrent fever, reported fewer febrile tonsillitis episodes one year after tonsillectomy.</p><p><strong>Conclusions: </strong>In our survey of children undergoing tonsillectomy, a subpopulation had frequent, stereotypical fever episodes with recurrent tonsillitis, aphthous stomatitis, or regular timing like patients with PFAPA. Although we cannot diagnose such patients with PFAPA in this limited retrospective study, pediatricians and otolaryngologists evaluating patients for tonsillectomy should be aware of the clinical signs of PFAPA that may warrant additional evaluation and therapeutic approaches.</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":"24 1","pages":"835"},"PeriodicalIF":2.0,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11673685/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142892141","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 factors and outcomes of postoperative extubation failure in children with fourth ventricular tumors: a case control study.","authors":"Wenmin Yang, Jinda Huang, Feiyan Chen, Chunmin Zhang, Yiyu Yang","doi":"10.1186/s12887-024-05320-x","DOIUrl":"10.1186/s12887-024-05320-x","url":null,"abstract":"<p><strong>Background and objective: </strong>Microsurgical resection of tumor is an important treatment for children with fourth ventricular tumors. There is a lack of data describing risk factors for postoperative extubation failure (EF) in these children. We aimed to identify risk factors for EF in children with fourth ventricular tumors and to determine the association between EF and clinical outcomes.</p><p><strong>Methods: </strong>A retrospective study review of children after fourth ventricular tumors surgery who had an extubation attempt between January 2020 to December 2023. Extubation failure was defined as re-intubation within 7 days of extubation. Multivariate logistic regression analysis was performed to explore the risk factors for EF. Bivariate statistical analysis was performed to determine associations between EF and clinical outcomes. Only the first extubation attempt was included in the analysis.</p><p><strong>Results: </strong>We included 103 children, of whom 10 (9.7%) experienced EF. In the logistic regression analysis, a weak/absent cough reflex was independently associated with EF (p < 0.001). Compared to those with a fair/ strong cough, patients with a weak/absent cough had a odds ratio (OR) of 41.25 for EF (95% CI,8.01-212.37; p < 0.001).Glasgow Coma Score(GCS), the obvious adhesion between the tumor and the fourth ventricle floor, and pulmonary variables were not associated with EF. Children who failed extubation had longer durations of mechanical ventilation [13 days (IQR 6.8-22.8) vs. 1 days (IQR 0.5-3), p < 0.001]; longer PICU lengths of stay [16.5 days (IQR 9.4-27.5) vs. 2 days (IQR1.5-4.3), p < 0.001] and longer hospital lengths of stay [27 days (IQR 21-31.8) vs. 20 days (IQR16-29), p = 0.05] than successfully extubated children.</p><p><strong>Conclusions: </strong>Children with weak/absent cough reflex after surgery are at increased risk for extubation failure. Extubation failure is associated with significant adverse outcomes in our setting.</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":"24 1","pages":"833"},"PeriodicalIF":2.0,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11665195/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142881271","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":"Predictive value of the serum procalcitonin level for fulminant virus-associated encephalopathy.","authors":"Lilin Huang, Xiaole Yang, Jing Li, Shumei Peng","doi":"10.1186/s12887-024-05335-4","DOIUrl":"10.1186/s12887-024-05335-4","url":null,"abstract":"<p><strong>Background: </strong>Fulminant virus-associated encephalopathy (VAE) is a rare complication of viral infection that presents as acute brain dysfunction and requires respiratory support and/or vasoactive agents. However, the mechanism of VAE is undetermined. The mortality rate is high since there is no specific treatment for fulminant VAE. The aim of this study was to identify risk factors for children with fulminant VAE on the basis of clinical data since timely recognition and treatment might be needed to improve the poor prognosis.</p><p><strong>Methods: </strong>This retrospective study included children with fulminant VAE who were diagnosed between June 2018 and October 2023 in the PICU of Guangdong Women and Children Hospital. Clinical data were analyzed, and receiver operating characteristic (ROC) curve analysis was performed to determine the prognostic value of the selected variables.</p><p><strong>Results: </strong>Twenty-three children with fulminant VAE were included and divided into a survival group (n = 16) and a nonsurvival group (n = 7). The mortality rate of patients with fulminant VAE was 30.8%. Compared with the survival group, the nonsurvival group had higher incidences of shock 48 h after onset, a higher acute necrotizing encephalopathy severity score (ANE-SS), higher procalcitonin (PCT) levels, and lower platelet counts (p < 0.05). The serum PCT level was significantly higher in the children with shock than in those without shock (p = 0.015). The serum PCT concentration was positively correlated with the ANE-SS (correlation coefficient 0.544, p < 0.039). Combined immunotherapies might help to decrease PCT levels in some children. Low PCT levels might be related to a good outcome. The area under the curve (AUC) for PCT used to predict death in patients with fulminant VAEs was 0.821 (95% CI 0.626-1.00). The sensitivity and specificity of PCT > 101.58 ng/ml for predicting death in patients with fulminant VAE were 57.1% and 100.0%, respectively.</p><p><strong>Conclusions: </strong>Patients with fulminant VAE deteriorate rapidly and are at high risk of death if they develop shock within 48 h after onset, exhibit extremely elevated serum PCT levels, or have decreased platelet counts. The serum PCT level might predict the death outcome of patients with fulminant VAE.</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":"24 1","pages":"831"},"PeriodicalIF":2.0,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11665223/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142881269","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":"Clinical and molecular characteristics of 20 Chinese probands with Mucolipidosis type II and III alpha/beta.","authors":"Yuyu Feng, Yonglan Huang, Xiaoyuan Zhao, Huiying Sheng, Xueying Su, Xi Yin, Liu Li, Wen Zhang","doi":"10.1186/s12887-024-05223-x","DOIUrl":"10.1186/s12887-024-05223-x","url":null,"abstract":"<p><strong>Background: </strong>Mucolipidosis (ML) II and III alpha/beta are lysosomal disorders caused by mutations in the GNPTAB gene which encodes the alpha and beta subunits of the heterohexameric enzyme, N-acetylglucosamine-1-phosphotransferase.</p><p><strong>Method: </strong>To explore the clinical and molecular characteristics of the 20 ML II and III alpha/beta patients, clinical data was collected and GNPTAB gene was analyzed by nest PCR and direct Sanger-sequencing. The activity of several lysosomal enzymes was measured in the plasma.</p><p><strong>Results: </strong>Among the 20 ML II and III alpha/beta patients, 6 patients were classified as ML II and 14 as ML III alpha/beta. The main clinical manifestations were joint stiffness, skeletal deformity, mental retardation and short stature. Bone X-ray examination showed radiological changes. The plasma arylsulfatase A and hexosaminidase A enzyme activities increased significantly. Urinary glycosaminoglycan values were normal. We detected mutations in GNPTAB in 35 of 40 alleles (87.5%). Mutation c.2715 + 1G > A and c.2404 C > T (p.Gln802Ter) were the most prevalent variants, accounting for 14.3% and 11.4%, respectively. Five novel mutations c.3335 + 5G > A, c.1284 + 1G > A, c.571 + 4 A > G, c.1634_1635delAA (p.Lys545Serfs*16) and c.1582T > C(p.Cys528Arg) were identified.</p><p><strong>Conclusion: </strong>Our study expands the spectrum of GNPTAB gene in China. Mutation c.2715 + 1G > A was the most prevalent mutation in our study. The novel mutation c.1284 + 1G > A might be a severe mutation associated with ML II.</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":"24 1","pages":"830"},"PeriodicalIF":2.0,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11665131/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142876183","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}