journal
https://read.qxmd.com/read/38984033/identification-of-lama2-compound-heterozygous-variants-a-case-report
#1
JOURNAL ARTICLE
Yingchao Ying, Jia Ye, Jue Shen, Guojuan Chen, Kewen Jiang
BACKGROUND: Laminin-α2 ( LAMA2 ) chain-deficient muscular dystrophy ( LAMA2 -MD) is the most common congenital muscular dystrophy (CMD) in the world. Its main manifestations are muscle weakness and hypotonia that occur after birth or at early infancy. CASE DESCRIPTION: We reported a case of a 3-year-old and 6-month-old boy presented with delayed motor development, elevated creatine kinase (CK) levels, and abnormal white matter in the brain. Whole exome sequencing (WES) showed compound heterozygous variants of the LAMA2 gene...
June 30, 2024: Translational Pediatrics
https://read.qxmd.com/read/38984032/rotavirus-vaccination-is-a-protective-factor-for-adverse-outcomes-in-primary-intussusception-a-single-center-retrospective-study
#2
JOURNAL ARTICLE
Min Du, Lihong Shang, Xin Li, Rongna Huang, Haibo Yao, Sheng Yang, Sujing Zhao, Libing Zhang, Xiaoli Xie
BACKGROUND: The clinical features and prognosis of intussusception in children vaccinated against rotavirus were undefined. Hence, we conducted the study to explore the clinical characteristics and outcomes of primary intussusception patients who received rotavirus vaccine. METHODS: A single-center retrospective study was performed in 327 primary intussusception patients between January 2019 and December 2021. Of these, 168 were vaccinated against rotavirus and 159 were not, the latter serving as the control group...
June 30, 2024: Translational Pediatrics
https://read.qxmd.com/read/38984031/specific-reference-interval-for-high-sensitivity-cardiac-troponin-i-among-healthy-children-in-wuhan-china
#3
JOURNAL ARTICLE
Qinzhen Cai, Mei Liu, Zhen Xie, Mo Wu, Lun Zhao, Wenbin Tuo, Si Xie, Yun Xiang, Hong Sun, Chunhui Yuan, Cong Yao, Jun Wang
BACKGROUND: Troponin (Tn) is of an important biomarker for the diagnosis and prognosis of myocardial injury and for evaluating the severity of cardiac involvement due to other systemic diseases in children. Unfortunately, high-sensitivity cardiac troponin I (hs-cTnI) specific reference intervals (RIs) are extremely limited. This study aimed to establish a preliminary pediatric hs-cTnI RI for newborns, children, and adolescents in Wuhan, China. METHODS: A total of 1,355 healthy participants (1 day to 19 years) were recruited from a cross-sectional study implemented in Wuhan Children's Hospital from September 2022 to August 2023...
June 30, 2024: Translational Pediatrics
https://read.qxmd.com/read/38984030/beyond-borders-an-appraisal-of-the-global-congenital-cardiac-surgery-workforce
#4
JOURNAL ARTICLE
Jeevan Francis, Edward Peng, Antonio F Corno
BACKGROUND: Congenital heart disease (CHD) is the most common congenital abnormality worldwide. Patients in resource-constrained environments experience higher levels of mortality and morbidity from CHD. Many studies have quantified the incidence of CHD in resource-constrained environments and compared these to availability of surgeons per population. However, no study to date has compiled and created a repository of the global paediatric cardiac surgical workforce. We aimed to quantify the number and details of the congenital cardiac surgeons globally, compare the population of under 15's in each respective countries, and address the workforce gaps that currently exist within paediatric cardiac surgery...
June 30, 2024: Translational Pediatrics
https://read.qxmd.com/read/38984029/advancements-in-understanding-the-role-of-ferroptosis-in-hypoxia-associated-brain-injury-a-narrative-review
#5
REVIEW
Liang Feng, Xinghao Yin, Qianqian Hua, Tianyu Ren, Jiangqiong Ke
BACKGROUND AND OBJECTIVE: Ferroptosis, a form of programmed cell death driven by lipid peroxidation and dependent on iron ions, unfolds through a sophisticated interplay of multiple biological processes. These include perturbations in iron metabolism, lipid peroxidation, aberrant amino acid metabolism, disruptions in hypoxia-inducible factor-prolyl hydroxylase (HIF-PHD) axis, and endoplasmic reticulum (ER) stress. Recent studies indicate that ferroptosis may serve as a promising therapeutic target for hypoxia-associated brain injury such as hypoxic-ischemic brain damage (HIBD) and cerebral ischemia-reperfusion injury (CIRI)...
June 30, 2024: Translational Pediatrics
https://read.qxmd.com/read/38984028/poor-outcome-in-congenital-mesoblastic-nephroma-with-tpm3-ntrk1-fusion-a-case-report-from-multi-disciplinary-treatment-to-molecular-tumor-board
#6
JOURNAL ARTICLE
Mengjiao Sun, Ji Chen, Yao Xue, Yongji Deng, David Van Mater, Laura S Hiemcke-Jiwa, Peng Wu, Yongjun Fang
BACKGROUND: Congenital mesoblastic nephroma (CMN) is a rare renal tumor with good prognosis in children; however, cellular CMN is a special subtype with poor prognosis. The ETV6 fusion gene has been found in some cellular CMNs, whereas CMNs with TPM3::NTRK1 fusion gene have not been reported. This study aims to share the progression and treatment of a case of CMNs with TPM3::NTRK1 fusion gene, in order to provide experience for the diagnosis and treatment of such specific diseases. CASE DESCRIPTION: We report a case of CMN with TPM3::NTRK1 fusion gene and a 3-year course of disease that originated during the fetal period...
June 30, 2024: Translational Pediatrics
https://read.qxmd.com/read/38984027/relation-between-the-time-of-the-transport-team-in-reaching-the-bedside-of-children-and-the-30-day-mortality-rate-after-admission
#7
JOURNAL ARTICLE
Mingxing Tang, Yao Sheng, Danqun Jin
BACKGROUND: China's medical system has not yet issued quality control indicators related to the transfer of critically ill children, and when transport teams receive a transfer request for these children, due to various reasons, the time to arrive at the bedside varies. The aim of this study was to investigate the effect of the time taken by the pediatric intensive care transport team to reach the bedside of children after receiving a transport request on the prognosis of these children...
June 30, 2024: Translational Pediatrics
https://read.qxmd.com/read/38984026/analysis-of-foodborne-salmonellosis-serotypes-and-drug-resistance-in-children-in-chenzhou-city-of-china-from-2017-through-2022
#8
JOURNAL ARTICLE
Yong Zhou, Bin Liao, Huilong Fang, Huiwen Zeng, Cuimei Chen, Zheng-Hang Huan, Wen Zheng, Xun Liu
BACKGROUND: Salmonella is a significant pathogens of foodborne illness. The widespread use of antibiotics in clinical practice and animal husbandry has resulted in increasing drug resistance of Salmonella . In this study, we examined the serotype distribution and drug resistance of Salmonella in pediatric patients with diarrhea in Chenzhou City to provide a basis for the scientific control and rational use of antibiotics in clinical practice in relation to Salmonellosis . METHODS: Stool Salmonella spp ...
June 30, 2024: Translational Pediatrics
https://read.qxmd.com/read/38984025/physical-activity-and-depressive-symptoms-in-youth
#9
EDITORIAL
Katherine E Spring, Amanda E Staiano
No abstract text is available yet for this article.
June 30, 2024: Translational Pediatrics
https://read.qxmd.com/read/38984024/best-evidence-summary-of-sleep-protection-in-premature-infants-in-the-neonatal-intensive-care-unit-a-narrative-review
#10
REVIEW
Yujing Gu, Yunfei Tang, Xiaoyin Chen, Jun Xie
BACKGROUND AND OBJECTIVE: Sleep influences the interaction between infants and their environment, as well as the achievement of crucial milestones in motor and language development. This is particularly significant for preterm infants in vulnerable positions. However, prematurely born infants in the neonatal intensive care unit (NICU) are exposed to various stimuli such as noise and light, which disrupt their normal sleep patterns. This study assesses and consolidates the existing evidence on non-pharmacological strategies for protecting and promoting sleep in preterm infants...
June 30, 2024: Translational Pediatrics
https://read.qxmd.com/read/38984023/salvage-treatment-of-ruxolitinib-for-refractory-adenovirus-associated-hemophagocytic-syndrome-post-haploidentical-allogeneic-stem-cell-transplantation-a-case-report
#11
JOURNAL ARTICLE
Jian Li, Qizi Wu, Xuemei Guo, Liucheng Rong, Yongjun Fang
BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a rare complication following hematopoietic stem cell transplantation (HSCT). Currently, there is a lack of consensus recommendations for the treatment of post-transplant HLH. This case report emphasizes the successful utilization of ruxolitinib as a salvage therapy for HLH post-HSCT. The aim is to provide valuable insights into the optimal management of this rare and complex complication. CASE DESCRIPTION: We present a case study of an 11-year-old male patient diagnosed with severe aplastic anemia who received a haploidentical HSCT...
June 30, 2024: Translational Pediatrics
https://read.qxmd.com/read/38984022/acral-persistent-papular-mucinosis-a-rare-child-case-report-and-literature-review
#12
JOURNAL ARTICLE
Mei-Yun Ding, Hai-Liang Zuo, Yan Sun, Jian-Cheng Zhang, Yong Yang, Fu-Jiang Ma, Xiao-Li Hu, Jiang-Hua Zhan
BACKGROUND: Acral persistent papular mucinosis (APPM) is a rare idiopathic subtype of localized lichen myxedematosus. To date, there have been less than 41 APPM cases reported worldwide, however, almost all patients were older than 18 years of age. A 7-year-old child was first reported in this paper. CASE DESCRIPTION: A 7-year-old boy was admitted to our hospital with a solitary skin-colored papule on the radial side of the middle segment of his right index finger...
June 30, 2024: Translational Pediatrics
https://read.qxmd.com/read/38984021/pediatric-femoral-shaft-fractures-the-american-academy-of-orthopaedic-surgeons-clinical-practice-guidelines-versus-actual-management-in-a-teaching-hospital
#13
JOURNAL ARTICLE
Jingyu Sun, Te Wang, Ning Zhao, Hua Chen, Chunhui Chen
BACKGROUND: In 2009, the clinical practice guidelines (CPG) were released by the American Academy of Orthopaedic Surgeons (AAOS), which outline an age-based approach for treating pediatric femoral shaft fractures (PFSF), both nonoperatively and operatively. The aim of the current study was to investigate potential disparities between the recommended treatments for PFSF based on the AAOS-CPG and the actual treatments administered in The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University...
June 30, 2024: Translational Pediatrics
https://read.qxmd.com/read/38984020/real-world-experience-of-thrombopoietin-receptor-agonists-in-pediatric-immune-thrombocytopenia-a-report-from-a-chinese-tertiary-children-s-hospital
#14
JOURNAL ARTICLE
Junjie Fan, Jing Chen, Li Gao, Yuanyuan Tian, Yina Sun, Yanhua Yao, Shihong Zhan, Shaoyan Hu
BACKGROUND: Primary immune thrombocytopenia (ITP) is the most common bleeding disorder in children. There are approximately 20% pediatric ITP patients respond poor to corticosteroids as first-line treatment. Recently thrombopoietin receptor agonists (TPO-RAs) have been used to treat refractory ITP and have achieved certain therapeutic effects. To investigate the efficacy and safety of TPO-RAs in the treatment of pediatric ITP, we conducted this real-world study. METHODS: Fifty-three pediatric patients with ITP who did not respond well to corticosteroids were treated with TPO-RAs...
June 30, 2024: Translational Pediatrics
https://read.qxmd.com/read/38984019/the-safeboosc-iii-trial-and-the-future-of-cerebral-oximetry-guided-interventions-in-preterm-infants-time-to-pause-and-reset
#15
EDITORIAL
Krishna Dummula, Vishal Pandey, Venkatesh Sampath
No abstract text is available yet for this article.
June 30, 2024: Translational Pediatrics
https://read.qxmd.com/read/38984018/impact-of-gut-health-and-microbiome-on-autism-spectrum-disorder
#16
EDITORIAL
Sik Yu So, Tor C Savidge
No abstract text is available yet for this article.
June 30, 2024: Translational Pediatrics
https://read.qxmd.com/read/38840691/a-case-report-alport-syndrome-and-growth-hormone-deficiency-associated-with-a-new-col4a4-mutation
#17
JOURNAL ARTICLE
Feng Zhu, Jieqian Zhu, Feifei Ji, Xianzang Huang, Yu Zhang
BACKGROUND: Alport syndrome (AS) is a rare progressive hereditary kidney disease that is clinically principally associated with hematuria, proteinuria, and progressive renal dysfunction. This condition not only impairs renal function but also potentially affects auditory and ocular health, significantly impacting the patient's quality of life. CASE DESCRIPTION: This article reports a young girl with AS, combined with dwarfism attributable to growth hormone (GH) deficiency, diagnosed at Wenzhou People's Hospital in 2019...
May 31, 2024: Translational Pediatrics
https://read.qxmd.com/read/38840690/microcirculation-endothelium-and-glycocalyx-changes-associated-with-the-use-of-milrinone-in-children-with-septic-shock
#18
JOURNAL ARTICLE
Mauricio Sarta-Mantilla, Jaime Fernández-Sarmiento, Lorena Acevedo, Hernando Mulett, Andres Nieto, Natalia Lucena, Jeisson Lancheros, Catalina Duque
BACKGROUND: The goal of fluid resuscitation and the use of inotropes in septic shock has traditionally focused on improving blood pressure and cardiac output, without considering the microcirculatory changes. Reaching macrocirculatory goals but with persistent microcirculatory abnormalities (hemodynamic incoherence) in septic shock has been associated with greater organ dysfunction and mortality. The objective of this study was to evaluate the microcirculation (flow and capillary density) and endothelial glycocalyx changes associated with the use of milrinone in children with septic shock, as well as their relationship with clinical variables and organ dysfunction...
May 31, 2024: Translational Pediatrics
https://read.qxmd.com/read/38840689/evidence-based-advances-in-minimally-invasive-surgery-in-infants-with-congenital-gastrointestinal-anomalies-a-narrative-review
#19
REVIEW
Haoyan Liang, Niloofar Ganji, Mashriq Alganabi, Haitao Zhu
BACKGROUND AND OBJECTIVE: Minimally invasive surgery (MIS) has been widely utilized to manage congenital gastrointestinal (GI) anomalies in children during the last two decades. Currently, MIS has a proven track-record for its feasibility and provides multiple benefits including better cosmesis, less trauma, and faster recovery in neonates and infants. However, it remains controversial whether MIS provides better definitive outcomes in pediatric patients with GI anomalies, especially among neonates...
May 31, 2024: Translational Pediatrics
https://read.qxmd.com/read/38840688/detection-of-pretreatment-circulating-tumor-dna-as-a-biomarker-of-poor-outcome-in-intermediate-risk-rhabdomyosarcoma
#20
EDITORIAL
Fariba Navid, Jaclyn A Biegel
No abstract text is available yet for this article.
May 31, 2024: Translational Pediatrics
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