Translational Pediatrics

BACKGROUND: Ryanodine receptor 2 ( RYR2 ) gene mutation causing catecholaminergic polymorphic ventricular tachycardia (CPVT) is one of the identified causes of sudden death in adults and children. CASE DESCRIPTION: We report a case of RYR2 gene mutation presented with cardiac arrest and recurrent syncopal attack with accidental finding of cardiac tumour. For the systematic review, we used four databases (Scopus, PubMed, Ovid and Google Scholar) to search articles with the terms " RYR2 gene mutation" and "catecholaminergic polymorphic ventricular tachycardia (CPVT)"...

BACKGROUND: Due to immaturity, the nose of preterm infants can easily be injured, by even a short application of a nasal device. However, 20% to 60% of preterm infants suffer nasal damage while using nasal continuous positive airway pressure (NCPAP) due to weak skin tissue, prolonged use of nasal device, and improper nursing practices, leading to increased risk of infection and decreased compliance and tolerance. In this study, we retrieved, obtained and integrated the related evidences of prevention of nasal injury in premature infants with nasal noninvasive ventilation to provide reference for clinical practice...

No abstract text is available yet for this article.

BACKGROUND: Timely and accurate pathogen diagnosis can be challenging in children who contract a respiratory virus following congenital heart surgery (CHS). This often results in suboptimal drug use and treatment delays. Metagenomics next-generation sequencing (mNGS) is a swift, efficient, and unbiased method for obtaining microbial nucleic acid sequences. This technology holds promise as a comprehensive diagnostic tool, especially for pathogens undetectable by traditional methods. However, the efficacy of mNGS in the context of congenital heart disease infections remains uncertain...

BACKGROUND: Influenza A is the most common viral pathogen isolated from pediatric clinics during influenza seasons. Some young patients with influenza manifest rapid progression with high fever and severe sequelae, such as pneumonia and meningitis. Therefore, early diagnosis and prompt treatment are highly important. Specific diagnostic tests currently include antigen detection, antibody detection, nucleic acid test and virus isolation. Rapid antigen testing is the most commonly adopted method in the outpatient setting, but false negative results are frequently observed, which causes delayed treatment and severe outcome...

BACKGROUND AND OBJECTIVE: Studying learning curve (LC) for robotic procedures and developing an adequate training program are two fundamental steps to standardize robotic procedures. With this aim, we analyzed the literature to study the LCs of different robotic procedures and the availability of standardized training problems. METHODS: The PubMed database was searched in the period from January 1995 to September 2022. Articles presenting LC and potential training programs in the pediatric population were chosen...

BACKGROUND: High-dose methotrexate (HDMTX) is crucial in treating pediatric malignant hematological tumors. However, its use is often complicated by delayed excretion and associated adverse reactions, which can significantly affect treatment outcomes and patient safety. Identifying risk factors is essential for safer, more effective therapy. This study aimed to investigate the influencing factors for delayed excretion and their correlation with adverse reactions in children with malignant hematological tumors after receiving HDMTX chemotherapy...

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BACKGROUND: Inflammatory myofibroblastic tumors (IMTs) are a spectrum of tumors that range in morphology and biological behavior from benign, intermediate, to apparently malignant and epithelioid inflammatory myofibroblastic sarcoma (EIMS) is one of the malignant subtypes. This study tried to provide experience and new ideas for treating this rare disease. METHODS: This study retrospectively analyzed and followed up 12 children with EIMS admitted to Beijing Children's Hospital, Baoding Children's Hospital, and Children's Hospital of Chongqing Medical University from August 2016 to May 2022...

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BACKGROUND: Head shape problems are common in infancy and early childhood, and thus their early identification and management can benefit the health of children. This study aimed to investigate pediatric healthcare professionals' existing knowledge of children's head shape abnormalities and their associated effects in China, providing guidelines for future clinical interventions, training, and interdisciplinary collaboration. METHODS: We conducted a survey among pediatric medical staff, encompassing various age groups, genders, hospitals, and professional levels...

BACKGROUND: Serratia marcescens ( S. marcescens ) is an unusual cause of osteomyelitis. Infection may develop following open trauma, intravenous drug abuse, or in the presence of hardware, but osteoarticular infections outside of this context are atypical in the absence of immunodeficiency. Rarely, a chronic indolent infection may develop after open trauma with disease recurrence years after the initial injury. CASE DESCRIPTION: We present the case of a 16-year-old male with extensive left lower extremity osteomyelitis secondary to S...

A uniquely challenging subset of infants diagnosed with esophageal atresia (EA) are those born with long-gap EA (LGEA). The common unifying feature in infants with LGEA is that the proximal and distal segments of the esophagus are too far apart to enable primary anastomosis via a single operation in the newborn period. Although any type of EA can technically result in a long gap, the Gross type A variant occurs in 8% of all EA cases and is most commonly associated with LGEA. In this review, we provide an evidence-based approach to the current challenges and management strategies employed in LGEA...

BACKGROUND: The neutrophil-lymphocyte ratio (NLR) is an easily accessible and inexpensive biomarker that has been shown to predict morbidity and mortality in congenital cardiac surgery. However, its regulatory mechanism remains unclear. This study aims to compare and correlate the tumor necrosis factor alpha (TNF-α), interleukin (IL)-1β, IL-6, and IL-10 messenger RNAs (mRNAs) with the NLR in patients with tetralogy of Fallot (ToF) and ventricular septal defect (VSD). METHODS: A prospective translational study was conducted on 10 children with ToF and 10 with VSD, aged between 1 and 24 months...

No abstract text is available yet for this article.

No abstract text is available yet for this article.

BACKGROUND AND OBJECTIVE: In the context of the global pandemic of coronavirus disease 2019 (COVID-19), more than 700 million infections and millions of deaths have occurred in countries around the world. Currently, two main sequelae of this disease are considered to occur in children, namely, multi-system inflammatory syndrome in children and long COVID. Among these two, the incidence of long COVID is higher and its impact on the population is more extensive, which is the focus of us...

BACKGROUND: The protein PEX26 is involved in the biogenesis and maintenance of peroxisomes, which are organelles within cells. Dysfunction of PEX26 results in peroxisome biogenesis disorders (PBDs) complementation group 8 (CG8), leading to Zellweger spectrum disorders (ZSDs). These disorders present as a syndrome with multiple congenital anomalies, varying in clinical severity. CASE DESCRIPTION: We present the case of a 7-month-old boy who exhibited hepatic impairment with hepatomegaly, sensorineural hearing loss, developmental delay, abnormal ossification, and mild craniofacial dysmorphology...

No abstract text is available yet for this article.

BACKGROUND: Adenoviral infections are most likely to invade the respiratory tract, and the clinical manifestations of the infections are varied; in severe cases, they may cause systemic multi-system damages and so on. At present, early clinical differential diagnosis is difficult under the existing testing methods, so it is important to analyze its clinical characteristics and risk factors for early identification of critical status and early and rational treatment. METHODS: The clinical data of 202 children with adenovirus pneumonia admitted to Tianjin Children's Hospital from January 2019 to December 2021 were retrospectively analyzed...