Ependymin-related protein 1 (EPDR1) has been found in the secretory body of adipocytes where it plays a role in lipid binding, transportation, and catabolism. The aim of this study was to investigate serum EPDR1 levels in children with obesity and normal-weight children and to compare the levels of EPDR1 between children with obesity, with and without metabolic-associated fatty liver disease (MAFLD). Thirty-four normal-weight children and 49 children with obesity (15 with MAFLD) were included in the study. Circulating EPDR1, IL-1β, and TNF-α were measured using enzyme-linked immunosorbent assays. Anthropometric and biochemical measurements related to obesity, blood lipids, and insulin resistance were performed on all participants. The serum EPDR1 levels of children with obesity were significantly higher than those of the control group. There was no difference in EPDR1 levels between the patients with and without MAFLD. Circulating EPDR1 was positively correlated with body mass index (BMI), BMI z-score, insulin, glucose, homeostatic model assessment insulin resistance index (HOMA-IR), triglycerides, white blood cells, and neutrophils. Binary logistic regression analysis showed a significant increase in the odds ratio of obesity with increasing EPDR1 levels. EPDR1 is strongly associated with obesity and may also be associated with metabolic disorders. This trial is registered with ChiCTR2300070951.
Retinoic acid (RA) serves as a metabolic intermediate of vitamin A. It plays a crucial physiological role in regulating cell proliferation, differentiation, apoptosis, embryonic development, and immunomodulation. Once vitamin A enters the body in the form of retinol, it undergoes conversion into RA through the intestinal epithelium and liver. Subsequently, it interacts with retinoic acid receptors and retinoid X receptors within the cell nucleus, thereby regulating gene expression. Throughout liver development, RA exerts precise temporal control, stimulating liver growth, inducing RALDH2 expression in liver somatic epithelial cells, and influencing hepatocyte differentiation. Recent studies have consistently demonstrated the indispensable connection between RA deficiency and the development of liver diseases, including nonalcoholic fatty liver disease, chronic hepatitis, liver fibrosis, and liver tumors. Studying the mechanisms underlying the relationship between RA and disease can enhance our understanding and improve disease treatment. This paper provides a comprehensive review of the role of RA signaling in liver development and liver diseases.
Bacterial meningitis (BM) is potentially life threatening in neonates, but the duration of antibiotic therapy is not well established. We aimed to compare the efficacy and safety among neonates suffering from BM of a relatively shortened duration of antibiotic treatment to the currently recommended course. We did a retrospective cohort study in neonates (gestational age [GA] or corrected GA ≥35 weeks) diagnosed with BM. Neonates in the study group were assigned to withdraw the antibiotics on condition that they were clinically stable after taking sufficient antibiotics with normal serological inflammatory biomarkers, whereas the cerebrospinal fluid (CSF) indicators remain abnormal. Neonates in the control group were treated until both serological and CSF indicators returned to normal as recommended. The incidence of recurrent infection after the discontinuation of antibiotics and adverse drug reactions (ADRs) during hospitalization was measured. A total of 233 neonates were enrolled, of whom 160 were assigned to a shortened antibiotic duration and 73 were treated according to the current guidelines. Twelve patients (7.5%) relapsed in the study group, whereas 4 (5.5%) relapsed in the control group (χ2 = 0.320, p = 0.572). The incidences of ADRs were similar in both groups (p > 0.05). The study indicates that antibiotics might be safely discontinued in neonates (GA ≥35 weeks) diagnosed with BM who are clinically stable or improving after antibiotic treatment and feature normal serological inflammatory markers, no severe complications, and no evidence of systemic infection, even if CSF parameters are not completely normal.
Periodontitis is a chronic inflammatory disease caused by plaque biofilm which shares risk factors with systemic chronic diseases such as diabetes, cardiovascular disease, and osteoporosis. Many studies have found increased prevalence and rate of progression of periodontal disease in children with common metabolic disorders. Although the causal relationship and specific mechanism between them has not been determined yet. The aim of this paper is to progress on the impact of metabolic disorders on periodontal health in children and the underlying mechanisms, which provides new evidences for the prevention and intervention of metabolic disorders and periodontitis in children.
Vitamin D plays a vital role in immunity and is related to susceptibility and the severity of pneumonia. The home confinement caused by the novel coronavirus disease (COVID-19) decreased sunlight exposure derived from outdoor activities in children, thereby possibly exerting an influence on 25-hydroxyvitamin D [25(OH)D] levels. The aim of this study is to quantify vitamin D level changes and trends among infants and toddlers with community-acquired pneumonia (CAP) during and post the home confinement period. This study included children who were hospitalized in the respiratory department of the Children's Hospital of Chongqing Medical University with CAP between February 1 and July 31 from 2020 to 2022 (N = 397). We used propensity score matching to control the confounding bias. The levels and trends of the children's serum 25(OH)D concentrations overall and by age groups were compared between the different periods. The serum 25(OH)D concentration during the home confinement period was lower (p < 0.05) but was still at the vitamin D sufficiency level. There was a gradual decrease in the 25(OH)D concentrations in the subsequent several months after the beginning of home confinement, and the recovery time was delayed. When analyzed by age group, the serum 25(OH)D concentration of the toddler group changed more significantly than that of the infant group between the different periods. The insufficiency of sunlight exposure caused by home confinement resulted in a slight and gradual decrease in vitamin D levels among children with CAP. In addition, the impact was more significant for toddlers.
Asthma control in children is often challenging. This retrospective cohort study aimed to investigate the potential contribution of small airway function in predicting asthma control within a 2- to 3-month period following the initial diagnosis in preschool children with asthma. A total of 219 preschool children diagnosed with asthma were enrolled, and their follow-up was conducted by pediatric pulmonary physicians. Clinical history and lung function results were collected for analysis. To identify risk factors associated with poor asthma control, a multivariable regression model was employed. Sixty-nine of the patients (31.5%) exhibited poor asthma control. Poor adherence to therapy (14.5% vs. 6.0%, p = 0.038) and the presence of severe airway hyperresponsiveness (AHR) (20.6% vs. 1.6%, p < 0.001) were more prevalent in the group with poor control. Additionally, baseline forced expiratory volume in 1 s in predicting (94.5% vs. 101.4%, p = 0.001), forced expiratory flows (FEF)50% (66.1% vs. 86.0%, p < 0.001), FEF75% (60.9% vs. 75.3%, p = 0.001), and FEF25–75% (70.9% vs. 86.0%, p < 0.001) were significantly lower in the poorly-controlled group than those of well-controlled group. There was no significant difference in forced vital capacity in predicting (FVC%) between the two groups (92.4% vs. 96.7%, p = 0.093). Multivariable regression model unveiled initial severe AHR (OR 8.595, 95%CI 1.241–59.537, p = 0.021) and decreased FEF50% (OR 0.971, 95%CI 0.949–0.994, p = 0.012) were significantly associated with short-term poor asthma control. Preschool children with asthma who exhibites initial severe AHR and/or decreased FEF50% faces an elevated risk of encountering poor asthma control during the subsequent 2–3 months.
This study aimed to visualize the knowledge structure and research trends in neonatal sepsis research through bibliometric methods. Articles and reviews regarding neonatal sepsis from 2002 to 2022 were retrieved from the Web of Science Core Collection database. CiteSpace software was used to visualize the knowledge network of countries/regions, institutions, authors, journals, keywords, and references in this field. Altogether, 2314 publications were identified. During the study period, the number of publications increased yearly. The USA is the leading country in neonatal sepsis research. Duke University was the most prolific institution, with Pediatric Infectious Disease Journal and BASU S being the most prolific journal and author in the field, respectively. Pathogen, diagnosis, and management were the main topics of research, and future studies may concentrate on novel diagnostic biomarkers and judicious use of antibiotics. In summary, the results of our bibliometric analysis revealed views on the current situation and trends of neonatal sepsis research for the first time. This study may provide guidance for promoting research on neonatal sepsis.
Presbyacusis, sudden sensorineural hearing loss (SNHL), noise-induced hearing loss, and drug-induced deafness are the most common types of acquired SNHL. At present, the diagnosis of these hearing disorders is mainly based on the medical history and audiological examination. Due to the lack of diagnostic biomarkers, diagnosis of acquired sensorineural hearing loss is difficult. Previous studies have suggested that microRNAs (miRNAs) serve essential roles in pathophysiological processes, and they are stable, tissue enriched, and could be determined in a quantitative manner. Therefore, they could be potential noninvasive biomarkers for acquired SNHL. This review provided a comprehensive overview of the similarities and differences in altered circulating miRNAs (cimiRNAs) (plasma, serum, whole blood, and perilymph) in various disorders, and highlighted the regulatory functions of cimiRNAs on the development, monitoring and prognosis of the four most common types of acquired SNHL.
Nephrocalcinosis is a complex disease with a multitude of triggering factors. An association with congenital hypothyroidism has been described in the literature, but the mechanisms leading to its development remain unclear. A 7-month-old infant presented with muscular hypotonia and signs of malnutrition was diagnosed with congenital hypothyroidism, nephrocalcinosis of unclear origin, and multiple kidney stones. Urine analysis revealed the presence of calcium oxalate crystals and slightly elevated oxaluria without hypercalciuria. Targeted exome sequencing found no variants in the four causative genes of primary oxaluria, namely AGXT, CBX5, GRHPR, and HOGA1. The clinical outcome was favorable with thyroid hormone and potassium citrate treatment. Ultrasound follow-up showed progressive improvement of nephrocalcinosis. The low level of urinary oxalate and the prevalence of dihydrate calcium oxalate crystals spoke against primary or secondary oxaluria. Recent evidence from mitochondrial research shows that thyroid hormone T3 enhances mitochondrial calcium levels by stimulating calcium uptake by the mitochondrial calcium uniporter. A reduced calcium uptake and metabolism in mitochondria might represent an explanation for cytoplasmic calcium accumulation in tubular cells, subsequently precipitating nephrocalcinosis in the absence of thyroid hormone. Even if the pathophysiological mechanisms are not yet fully understood, recent evidence is supportive of a causal relationship between hypothyroidism and nephrocalcinosis, a sometimes overlooked association.
The incidence rate of spinal cord injury in children is lower than that in adults, accounting for about 5% of all spinal cord injuries. Motor vehicle accidents are the main cause of spinal cord injuries in children. As the spine of children is still in the process of growth and development, the anatomical structure and biomechanics have unique characteristics, and its etiology, injury site, and clinical manifestations are different from those of adults. Misdiagnosis and delayed diagnosis can lead to severe spinal deformity and neurological complications. Children and adolescents with spinal cord injuries may suffer from lifelong disability, which will do great harm to children, families, and society. Early magnetic resonance imaging examination can effectively avoid underdiagnosis of spinal cord injury without radiographic abnormality and select appropriate treatment. In addition, it is also important to establish a family-centered rehabilitation model to help the affected children reintegrate into society and achieve the goal of returning to normal life. This article reviews the etiology, epidemiology, clinical characteristics, complications, and treatment of spinal cord injury in children and adolescents.
Genetic defects have been increasingly found in cardiomyopathies, which are often present with mutations in cardiac contractile proteins. These congenital defects involve numerous intracellular pathways and share several critical clinical features, such as systolic or diastolic dysfunction fostering the various cardiomyopathic phenotypes. Hypertrophic cardiomyopathy and restrictive cardiomyopathy (RCM) share a common pathological feature, that is, diastolic dysfunction. Studies have shown that mutations of contractile proteins, especially myosin heavy chain and troponin, are tightly associated with diastolic dysfunction in patients with Cardiomyopathies (CMs), including pediatric patients with CM. Therapeutics, including green tea extract (epigallocatechin gallate) and mavacamten, interact directly with these contractile proteins and have shown promising results. This article will review recent and contemporary research on diastolic dysfunction in CMs, especially hypertrophic cardiomyopathy and RCM, which include their target proteins, mechanisms, clinical diagnosis, and potential therapies.
Fanconi anemia is the most common inherited bone marrow failure syndrome. Its clinical manifestations include congenital dysplasia, bone marrow hematopoietic failure and tumor susceptibility. At present, there are 23 related gene abnormalities, among which FANCA is the most common. We report a case of a Chinese girl with bone dysplasia and aplastic anemia. The next-generation sequencing results showed a homozygous mutation in the FANCA gene (c.2222G > A), which was predicted to be a pathogenic mutation based on protein function. This mutation at this site has not been reported in the previous literature. The diagnosis of Fanconi anemia should be determined with combined clinical, chromosome breakage test and gene sequencing results.