Frontiers in Pediatrics最新文献

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Fatigue in children and adolescents with inflammatory bowel disease: a cross-sectional study. 儿童和青少年炎症性肠病患者的疲劳:一项横断面研究
IF 2.1 3区 医学
Frontiers in Pediatrics Pub Date : 2024-12-19 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1519779
Yahui Zuo, Jinjin Cao, Yuanyuan Wang, Wenqian Cai, Mei Li
{"title":"Fatigue in children and adolescents with inflammatory bowel disease: a cross-sectional study.","authors":"Yahui Zuo, Jinjin Cao, Yuanyuan Wang, Wenqian Cai, Mei Li","doi":"10.3389/fped.2024.1519779","DOIUrl":"10.3389/fped.2024.1519779","url":null,"abstract":"<p><strong>Background: </strong>In recent years, there has been an observed increase in the global diagnosis rate of inflammatory bowel disease among children and adolescents. In inactive disease states, fatigue has emerged as the most debilitating symptom, while in active disease states, it ranks second. However, there remains a notable lack of understanding regarding fatigue in pediatric inflammatory bowel disease patients. Consequently, this study sought to investigate the prevalence and status of fatigue in a cohort of pediatric inflammatory bowel disease patients in China.</p><p><strong>Methods: </strong>A cross-sectional, questionnaire-based survey was conducted. The researchers recruited 110 patients with inflammatory bowel disease using the convenient sampling method between 1 September 2021 until 31 November 2022 in Department of Gastroenterology of Children's Hospital of Nanjing Medical University. Fatigue was assessed using the Multidimensional Fatigue Scale, while potential factors associated with fatigue were analyzed through univariate and multiple regression analyses.</p><p><strong>Results: </strong>The study found that the total score of fatigue in children with inflammatory bowel disease was 62.22 ± 20.55. The univariate analysis revealed significant differences in the degree of fatigue across regions, ages, disease severities, corticosteroid use, and biological agent use. Furthermore, the multiple regression analysis indicated a significant difference in BMI (<i>p</i> < 0.05).</p><p><strong>Conclusions: </strong>Fatigue is a multidimensional symptom that affects a majority of pediatric inflammatory bowel disease patients. Factors such as patient region, age, disease severity, BMI, and drug use are significantly associated with fatigue. Healthcare providers should prioritize the assessment of fatigue symptoms in these patients. Following the initial assessment, targeted interventions should be implemented to alleviate and improve these symptoms.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"12 ","pages":"1519779"},"PeriodicalIF":2.1,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11693721/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142921370","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Diagnosis of small bowel obstruction due to Shine-Muscat grape ingestion: case report. 食马斯喀特葡萄致小肠梗阻诊断1例。
IF 2.1 3区 医学
Frontiers in Pediatrics Pub Date : 2024-12-19 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1503456
Chunhui Gu, Youcheng Zhang, Guoqing Jiang, Xiaoting Hu
{"title":"Diagnosis of small bowel obstruction due to Shine-Muscat grape ingestion: case report.","authors":"Chunhui Gu, Youcheng Zhang, Guoqing Jiang, Xiaoting Hu","doi":"10.3389/fped.2024.1503456","DOIUrl":"10.3389/fped.2024.1503456","url":null,"abstract":"<p><strong>Introduction: </strong>This case report describes a rare instance of small bowel obstruction (SBO) caused by the ingestion of a whole Shine-Muscat grape in a 7-month-old infant. This case adds to the scientific literature by highlighting the potential risk of common fruits, such as grapes, in causing serious gastrointestinal blockages in pediatric patients, which is an uncommon but important consideration for pediatricians and caregivers.</p><p><strong>Main symptoms and clinical findings: </strong>A 7-month-old female presented with a 3-day history of vomiting, which progressed to bilious vomiting, accompanied by abdominal distension and dehydration. Abdominal CT imaging revealed dilated small bowel loops and a spherical low-density lesion suggestive of an obstructing foreign body.</p><p><strong>Main diagnoses therapeutic interventions and outcomes: </strong>The diagnosis of mechanical small bowel obstruction due to a foreign body was confirmed intraoperatively. The obstructing object was identified as a whole Shine-Muscat grape. Surgical management involved a minimally invasive laparoscopic approach to crush and move the grape into the colon, avoiding bowel incision. The patient recovered well postoperatively and passed the grape fragments naturally, resuming a normal diet within days.</p><p><strong>Conclusion: </strong>This case underscores the importance of considering fruit ingestion as a potential cause of intestinal obstruction in infants. Pediatric surgeons and emergency clinicians should be aware of this rare but significant risk and employ careful history-taking, appropriate imaging, and minimally invasive techniques to manage such cases effectively.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"12 ","pages":"1503456"},"PeriodicalIF":2.1,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11693656/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142921409","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Open-ended urethral catheters reduce catheter obstruction after hypospadias repair. 开放式导尿管可减少尿道下裂修补术后导尿管梗阻。
IF 2.1 3区 医学
Frontiers in Pediatrics Pub Date : 2024-12-19 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1402440
Xiang Zhao, Kechi Yu, Erhu Fang, Ning Li
{"title":"Open-ended urethral catheters reduce catheter obstruction after hypospadias repair.","authors":"Xiang Zhao, Kechi Yu, Erhu Fang, Ning Li","doi":"10.3389/fped.2024.1402440","DOIUrl":"10.3389/fped.2024.1402440","url":null,"abstract":"<p><strong>Backgrounds: </strong>Urethral catheter obstruction is a notable issue that pediatric patients with hypospadias may encounter in the early postoperative period. This retrospective study aims to assess the efficacy of open-ended urethral catheters with 2 side holes in mitigating catheter obstruction in pediatric patients following hypospadias repair.</p><p><strong>Materials and methods: </strong>The clinical data of pediatric patients who underwent hypospadias repair surgery from January 2021 to October 2023 were retrospectively collected. The patients were divided into 2 groups. Those who used standard Foley catheters were referred to as Group A, while those who used modified open-ended catheters were referred to as Group B. The primary outcome was the incidence of catheter obstruction within 7 days postoperatively.</p><p><strong>Results: </strong>A total of 297 patients were included in this study, with 142 patients in Group A and 155 patients in Group B. In Group A, there were 12 cases of catheter obstruction, with 10 cases resolved through irrigation and 2 cases requiring additional catheters insertion by suprapubic bladder punctures. In Group B, only 4 cases experienced catheter obstruction, which were effectively and easily resolved through maneuver irrigation. The incidence of catheter obstruction in Group B was statistically significantly lower than that in Group A (2.6% vs. 8.5%, <i>p</i> < 0.05).</p><p><strong>Conclusion: </strong>In pediatric hypospadias patients who underwent surgical repair, the use of open-ended urethral catheters with 2 side holes significantly diminishes the incidence of postoperative catheter obstruction. This simple technique is worthy of promotion.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"12 ","pages":"1402440"},"PeriodicalIF":2.1,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11693663/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142921390","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A novel variant c.7104 + 6T > A of ABCA12 linked to autosomal recessive congenital ichthyosis verified by minigene splicing assay. ABCA12基因c.7104 + 6T > A与常染色体隐性先天性鱼鳞病相关。
IF 2.1 3区 医学
Frontiers in Pediatrics Pub Date : 2024-12-19 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1505924
Linyan Zhu, Rui Zhou, Lianxiao Zhang, Mei Chen, Shengmin Zhang, Xiaxi Huang, Yubo Shi, Huiqing Ding
{"title":"A novel variant c.7104 + 6T > A of <i>ABCA12</i> linked to autosomal recessive congenital ichthyosis verified by minigene splicing assay.","authors":"Linyan Zhu, Rui Zhou, Lianxiao Zhang, Mei Chen, Shengmin Zhang, Xiaxi Huang, Yubo Shi, Huiqing Ding","doi":"10.3389/fped.2024.1505924","DOIUrl":"10.3389/fped.2024.1505924","url":null,"abstract":"<p><strong>Background: </strong>Autosomal recessive congenital ichthyosis (ARCI) is a group of genetic skin disorders characterized by abnormal keratinization, leading to significant health issues and reduced quality of life. ARCI encompasses harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). While all ARCI genes are linked to LI and CIE, HI is specifically associated with severe mutations in the <i>ABCA12</i> gene. Milder forms like LI and CIE usually involve at least one non-truncating <i>ABCA12</i> variant.</p><p><strong>Methods: </strong>Whole-exome sequencing (WES) was performed on fetal and parental DNA, and <i>ABCA12</i> gene variants were validated by Sanger sequencing. The functional effect of the novel variant c.7104 + 6T > A was evaluated using an <i>in vitro</i> minigene system, with splicing analysis conducted via PCR and Sanger sequencing.</p><p><strong>Results: </strong>A compound heterozygous variation in the ABCA12 gene, comprising c.5784G > A (p.W1928*) and c.7104 + 6T > A, was identified in the fetus, inherited from the father and mother, respectively. According to ACMG guidelines, the c.7104 + 6T > A variant is classified as a Variant of Uncertain Significance (VUS). Computational predictions suggested that this variant affects splicing. A minigene assay further confirmed that the c.7104 + 6T > A variant in ABCA12 leads to two types of aberrant mRNA splicing: a 69-base pair deletion (c.7036_7104del, p.Val2346_Glu2368del) and skipping of Exon 47, both of which result in a premature stop codon and a truncated protein.</p><p><strong>Conclusion: </strong>In conclusion, this study identified a novel genetic variant, c.7104 + 6T > A in <i>ABCA12</i>, as the cause of ARCI in a fetus, thereby enriched the known <i>ABCA12</i> mutation spectrum.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"12 ","pages":"1505924"},"PeriodicalIF":2.1,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11693441/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142921300","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Reduced kidney size and renal function of high-grade vesicoureteral reflux and intrarenal reflux in contrast-enhanced voiding urosonography. 造影剂增强排尿尿超音波对高级别膀胱输尿管反流和肾内反流的影响。
IF 2.1 3区 医学
Frontiers in Pediatrics Pub Date : 2024-12-18 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1478436
Hualin Yan, Cong Wu, Jiehong Zhou, Cairong Huang, Xue Ma, Yidong Huang, Lugang Huang, Juxian Liu
{"title":"Reduced kidney size and renal function of high-grade vesicoureteral reflux and intrarenal reflux in contrast-enhanced voiding urosonography.","authors":"Hualin Yan, Cong Wu, Jiehong Zhou, Cairong Huang, Xue Ma, Yidong Huang, Lugang Huang, Juxian Liu","doi":"10.3389/fped.2024.1478436","DOIUrl":"10.3389/fped.2024.1478436","url":null,"abstract":"<p><strong>Background: </strong>Vesicoureteral reflux (VUR) is a common pediatric urological condition associated with renal scarring, hypertension, and chronic kidney disease. Contrast-enhanced voiding urosonography (ceVUS) has emerged as a promising technique for diagnosing and evaluating VUR, with intrarenal reflux (IRR) often detected using this method. This study aimed to explore the relationship between different VUR grades and IRR on ceVUS, and assess the impact of VUR and IRR on kidney size and function.</p><p><strong>Methods: </strong>We reviewed all ceVUS studies from January 2019 to December 2023 conducted at West China Hospital, Sichuan University. Both video clips and digital images of the ceVUS examinations were recorded. A total of 220 uretero-renal units (URUs) of 110 children (67 males and 43 females) were included in this study.</p><p><strong>Results: </strong>Among the 220 URUs assessed, 134 were diagnosed with VUR, and 25 exhibited IRR, with IRR exclusively observed in patients with grade II VUR or higher. Upon age and sex matching, the severity of IRR showed a significant positive correlation with high-grade VUR (<i>P <</i> 0.001). Notably, patients with high-grade VUR and IRR displayed reduced kidney size compared to those without VUR or IRR (<i>P <</i> 0.05). Furthermore, patients with high-grade VUR and IRR had reduced DMSA renal function (<i>P</i> = 0.015, <i>P</i> = 0.012, respectively), and patients with high-grade VUR had more DMSA scars (<i>P</i> = 0.027), compared with those without VUR or IRR.</p><p><strong>Conclusion: </strong>Our study highlights that on ceVUS, the IRR degree was associated with the high-grade VUR, along with reductions in kidney size and renal function in patients with high-grade VUR and IRR.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"12 ","pages":"1478436"},"PeriodicalIF":2.1,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11688366/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142914499","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A single-center experience of central nervous system tumors in children under three years old. 三岁以下儿童中枢神经系统肿瘤的单中心研究。
IF 2.1 3区 医学
Frontiers in Pediatrics Pub Date : 2024-12-18 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1441016
Junhua Wang, Chuanwei Wang, Zhimin Huang, Zhihua Zhang, Yuqi Zhang
{"title":"A single-center experience of central nervous system tumors in children under three years old.","authors":"Junhua Wang, Chuanwei Wang, Zhimin Huang, Zhihua Zhang, Yuqi Zhang","doi":"10.3389/fped.2024.1441016","DOIUrl":"10.3389/fped.2024.1441016","url":null,"abstract":"<p><strong>Purpose: </strong>This study aims to summarize the characteristics of children under three years old (≤3 years) with central nervous system (CNS) tumors and to investigate the factors that influence their overall survival (OS) time.</p><p><strong>Methods: </strong>We treated 171 pediatric patients (≤3 years) with CNS tumors at Yuquan Hospital of Tsinghua University from January 2016 to June 2023. Of these, 162 cases were successfully followed up. Kaplan-Meier survival analysis and Cox regression were utilized to evaluate factors potentially influencing OS of malignancies.</p><p><strong>Results: </strong>There was a male predominance among the patients. The three most common tumors were embryonal tumors, gliomas, and craniopharyngiomas. Gross total resection (GTR) was achieved in select cases. Patients with high-grade malignancies were advised to undergo chemotherapy and/or radiotherapy after surgery. Optic gliomas and diffuse midline gliomas were partially resected and treated with adjuvant treatments. The median survival time of low-grade malignant tumors was 41.5 months, while that of high-grade malignant tumors was 15 months. Kaplan-Meier survival analysis identified the factors potentially influencing OS of malignancies: extent of resection, CNS WHO grade, grade of malignancies, and Ki-67 labeling index (Ki-67 LI). Subsequent multivariate analysis highlighted the interactive factor (extent of resection × CNS WHO grade) along with Ki-67 LI, as the most significant variables. Factors such as sex, age, tumor location, and onset-to-treatment time appeared not to affect OS.</p><p><strong>Conclusions: </strong>GTR remains the cornerstone of treatment for children (≤3 years) with CNS tumors, except for optic glioma, diffuse midline glioma, and germinoma. The interactive factor (extent of resection × CNS WHO grade) and Ki-67 LI are the most significant factors affecting OS. The implementation of preoperative neoadjuvant chemotherapy and early postoperative chemotherapy may enhance prognosis.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"12 ","pages":"1441016"},"PeriodicalIF":2.1,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11688179/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142914646","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
AGMA-PESS: a deep learning-based infant pose estimator and sequence selector software for general movement assessment. AGMA-PESS:一个基于深度学习的婴儿姿势估计和序列选择软件,用于一般运动评估。
IF 2.1 3区 医学
Frontiers in Pediatrics Pub Date : 2024-12-18 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1465632
Ameur Soualmi, Olivier Alata, Christophe Ducottet, Anne Petitjean-Robert, Aurélie Plat, Hugues Patural, Antoine Giraud
{"title":"AGMA-PESS: a deep learning-based infant pose estimator and sequence selector software for general movement assessment.","authors":"Ameur Soualmi, Olivier Alata, Christophe Ducottet, Anne Petitjean-Robert, Aurélie Plat, Hugues Patural, Antoine Giraud","doi":"10.3389/fped.2024.1465632","DOIUrl":"10.3389/fped.2024.1465632","url":null,"abstract":"<p><p>The General Movement Assessment (GMA) is a validated evaluation of brain maturation essential to shaping early individual developmental trajectories of preterm infants. To ensure a reliable GMA, preterm infants should be recorded for 30 to 60 min before manually selecting at least three sequences with general movements. This time-consuming task of manually selecting short video sequences from lengthy recordings impedes its implementation within the Neonatal Unit. Moreover, an accurate pose estimation tool for preterm infants is paramount to developing the field of GMA automation. We introduce the AGMA Pose Estimator and Sequence Selector (AGMA-PESS) software, based on the state-of-the-art deep learning infant pose estimation network, to automatically select the video sequences for GMA at preterm and writhing ages and estimate the pose of infants in 2D. Its simplicity and efficiency make AGMA-PESS a valuable tool to promote GMA use within the Neonatal Unit, both for clinical practice and research purposes.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"12 ","pages":"1465632"},"PeriodicalIF":2.1,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11688355/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142914469","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Deep learning-based automation for segmentation and biometric measurement of the gestational sac in ultrasound images. 基于深度学习的超声图像中妊娠囊的分割和生物测量自动化。
IF 2.1 3区 医学
Frontiers in Pediatrics Pub Date : 2024-12-18 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1453302
Hafiz Muhammad Danish, Zobia Suhail, Faiza Farooq
{"title":"Deep learning-based automation for segmentation and biometric measurement of the gestational sac in ultrasound images.","authors":"Hafiz Muhammad Danish, Zobia Suhail, Faiza Farooq","doi":"10.3389/fped.2024.1453302","DOIUrl":"10.3389/fped.2024.1453302","url":null,"abstract":"<p><strong>Introduction: </strong>Monitoring the morphological features of the gestational sac (GS) and measuring the mean sac diameter (MSD) during early pregnancy are essential for predicting spontaneous miscarriage and estimating gestational age (GA). However, the manual process is labor-intensive and highly dependent on the sonographer's expertise. This study aims to develop an automated pipeline to assist sonographers in accurately segmenting the GS and estimating GA.</p><p><strong>Methods: </strong>A novel dataset of 500 ultrasound (US) scans, taken between 4 and 10 weeks of gestation, was prepared. Four widely used fully convolutional neural networks: UNet, UNet++, DeepLabV3, and ResUNet were modified by replacing their encoders with a pre-trained ResNet50. These models were trained and evaluated using 5-fold cross-validation to identify the optimal approach for GS segmentation. Subsequently, novel biometry was introduced to assess GA automatically, and the system's performance was compared with that of sonographers.</p><p><strong>Results: </strong>The ResUNet model demonstrated the best performance among the tested architectures, achieving mean Intersection over Union (IoU), Dice, Recall, and Precision values of 0.946, 0.978, 0.987, and 0.958, respectively. The discrepancy between the GA estimations provided by the sonographers and the biometry algorithm was measured at a Mean Absolute Error (MAE) of 0.07 weeks.</p><p><strong>Conclusion: </strong>The proposed pipeline offers a precise and reliable alternative to conventional manual measurements for GS segmentation and GA estimation. Furthermore, its potential extends to segmenting and measuring other fetal components in future studies.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"12 ","pages":"1453302"},"PeriodicalIF":2.1,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11688376/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142914479","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pyridostigmine as a therapeutic option for pediatric gastrointestinal dysmotilities in ATR-X syndrome. Case report and literature review. 吡哆斯的明作为ATR-X综合征儿童胃肠功能障碍的治疗选择。病例报告及文献复习。
IF 2.1 3区 医学
Frontiers in Pediatrics Pub Date : 2024-12-17 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1460658
F F Comisi, C Soddu, M Corpino, M Marica, R Cacace, T Foiadelli, S Savasta
{"title":"Pyridostigmine as a therapeutic option for pediatric gastrointestinal dysmotilities in ATR-X syndrome. Case report and literature review.","authors":"F F Comisi, C Soddu, M Corpino, M Marica, R Cacace, T Foiadelli, S Savasta","doi":"10.3389/fped.2024.1460658","DOIUrl":"10.3389/fped.2024.1460658","url":null,"abstract":"<p><strong>Background: </strong>Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome, is a rare genetic disorder, caused by mutations in the ATRX gene. Clinical manifestations include typical facial dysmorphisms, mild-to-severe intellectual disability, hypotonia, genital anomalies, significant gastrointestinal (GI) complications, such as abdominal distension, chronic constipation, feeding difficulties, gastroesophageal reflux, and mild-to-moderate anemia secondary to alpha-thalassemia.</p><p><strong>Case presentation: </strong>We report a patient with ATR-X syndrome suffering from gastrointestinal dysmotility and highlight the beneficial effects of pyridostigmine. Knowledge about the role and appropriate dosage of pyridostigmine in GI motility disorders is limited. To date, only nine pediatric cases involving pyridostigmine for GI dysmotility have been reported.</p><p><strong>Conclusions: </strong>Considering current understanding about the treatment of gastrointestinal complications in patients with genetic syndromes, this case provides new insights into management of these complex clinical presentations.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"12 ","pages":"1460658"},"PeriodicalIF":2.1,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11685138/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142914494","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Increased ferritin, serum lactate dehydrogenase, and aspartate aminotransferase levels predict macrophage activation syndrome complicating systemic lupus erythematosus: a retrospective study. 铁蛋白、血清乳酸脱氢酶和天冬氨酸转氨酶水平升高预测巨噬细胞激活综合征并发系统性红斑狼疮:一项回顾性研究。
IF 2.1 3区 医学
Frontiers in Pediatrics Pub Date : 2024-12-17 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1469912
Yingying Liu, Yuting Pan, Jing Jin, Panpan Wang, Tonghao Zhang, Zhidan Fan, Haiguo Yu
{"title":"Increased ferritin, serum lactate dehydrogenase, and aspartate aminotransferase levels predict macrophage activation syndrome complicating systemic lupus erythematosus: a retrospective study.","authors":"Yingying Liu, Yuting Pan, Jing Jin, Panpan Wang, Tonghao Zhang, Zhidan Fan, Haiguo Yu","doi":"10.3389/fped.2024.1469912","DOIUrl":"10.3389/fped.2024.1469912","url":null,"abstract":"<p><strong>Background: </strong>This study aimed to assess the diagnosis of macrophage activation syndrome (MAS) at the onset of active childhood-onset systemic lupus erythematosus (cSLE), which is under-researched, and to compare the characteristics of cSLE with and without MAS, hypothesizing the existence of possible predictors of MAS in active cSLE.</p><p><strong>Methods: </strong>This study enrolled 157 patients diagnosed with cSLE, with or without MAS, from Nanjing Medical University between January 2018 and May 2023. Data analysis was performed using an independent samples <i>t</i>-test or the Mann-Whitney <i>U</i>-test, the <i>χ</i> <sup>2</sup> test, the Youden index to determine the optimal cutoff values for diagnosis, and binary logistic regression analysis to determine the predicted probability.</p><p><strong>Results: </strong>Fifteen patients (9%) had MAS in the active phase, with an SLE disease activity index of 16.6 (range, 6-32). Bone marrow aspirations revealed hemophagocytosis in 8/15 cases (53%). Fever was the most common feature of MAS patients. Lactate dehydrogenase (LDH) and ferritin levels were elevated in the patients. Lower leukocyte, neutrophil, and platelet counts, including serum sodium and fibrinogen, and increased alanine aminotransferase, aspartate aminotransferase (AST), lactate dehydrogenase (LDH), ferritin, triglyceride, and D-dimer levels occurred in MAS patients, unlike those without MAS. Optimal cutoff values for ferritin (≥607.35 ng/ml), LDH (≥424 U/L), and AST (≥61 U/L) were predictors of MAS occurrence in cSLE. No MAS patients experienced recurrence during an 18-month mean follow-up.</p><p><strong>Conclusions: </strong>Despite the narrow scope of the study, elevated levels of ferritin, LDH, and AST may represent indicators of cSLE complicated by MAS. Early diagnosis and treatment may improve outcomes.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"12 ","pages":"1469912"},"PeriodicalIF":2.1,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11685012/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142914383","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}
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