Developing a non-invasive diagnostic model for pediatric Crohn's disease using RNA-seq analysis.

Introduction: Pediatric Crohn's disease is a chronic inflammatory condition that affects the digestive system in children and adolescents. It is characterized by symptoms such as abdominal pain, diarrhea, weight loss, and malnutrition, and can also cause complications like growth delays and delayed puberty. However, diagnosing pediatric Crohn's disease can be difficult, especially when it comes to non-invasive methods. Methods: In this study, we developed a diagnostic model using RNA-seq to analyze gene expression in ileal biopsy samples from children with Crohn's disease and non-pediatric Crohn's controls. Results: Our results showed that pediatric Crohn's disease is associated with altered expression of genes involved in immune response, inflammation, and tissue repair. We validated our findings using two independent datasets from the Gene Expression Omnibus (GEO) database, as well as through one prospective independent dataset, and found that our model had a high accuracy rate. Discussion: These findings suggest the possibility of non-invasive diagnosis for pediatric Crohn's disease and may inform the development of targeted therapies for this condition.

Serum levels of angiotensin-converting enzyme 2 in children with Kawasaki disease.

Kawasaki disease (KD) has replaced rheumatic fever as the main cause of acquired heart disease in Japanese, American, and Chinese children. Polymorphisms in angiotensin-converting enzyme may be associated with susceptibility to KD, but the association of angiotensin-converting enzyme 2 (ACE2) with vascular endothelial injury in KD and the possibility for prognosis of vascular injury in KD by evaluating changes in serum ACE2 have not yet been assessed. Thus, this study aimed to investigate ACE2 levels in patients with KD to further explore the relationship between ACE2 and vascular injury in KD. Blood samples were collected from 49 children with KD before intravenous immunoglobulin treatment and 28 healthy children in the same period as the control group. Clinical data were collected from the patients and serum ACE2 levels of all participants were measured using an enzyme-linked immunosorbent assay. Serum ACE2 levels were significantly higher in the KD group than in the control group, and were negatively correlated with platelet levels in patients with KD. Serum ACE2 levels are related to the pathogenesis of KD and may be used as a potential serum marker for KD diagnosis.

Identification of key biomarkers in Angelman syndrome by a multi-cohort analysis.

The Angelman Syndrome (AS) is an extreme neurodevelopmental disorder without effective treatments. While most patients with this disease can be diagnosed by genetic testing, there are still a handful of patients have an unrecognized genetic cause for their illness. Thus, novel approaches to clinical diagnosis and treatment are urgently needed. The aim of this study was to identify and characterize differentially expressed genes involved in AS and built potential diagnostic panel for AS by NGS sequencing. A multi-cohort analysis framework was used to analyze stem cell-derived neurons from AS patients in GSE160747 dataset. We identified three differentially expressed genes (ACTN1, ADAMTS2, SLC30A8) differentiates AS patients from controls. Moreover, we validated the expression patterns of these genes in GSE146640, GSE120225. Receiver operating characteristic (ROC) curves analysis demonstrated that these genes could function as potential diagnostic biomarkers [AUC = 1 (95% CI 1-1)]. This study may provide new approach for diagnosing patients with AS and helping to develop novel therapies in treating AS patients.

Therapeutic effect of budesonide, montelukast and azithromycin on post-infectious bronchiolitis obliterans in children.

Optimal treatment options for post-infectious bronchiolitis obliterans (PIBO) have not yet been established. The present study retrospectively analyzed the effect of budesonide, montelukast and azithromycin on treating PIBO in children <5 years old.. Based on treatment regimen, the cohort was divided into group A and group B. Group A received a combination of budesonide, montelukast and azithromycin for at least 3 months and group B received unconventional treatment (budesonide for nebulization intermittently, prednisone, montelukast and antibiotics if necessary) compared with standard treatment. Tidal pulmonary function and symptoms assessment were performed at diagnosis and after 3 months of therapy. There were no significant differences in the sex, age, pulmonary function and symptoms assessment between groups A and B at diagnosis. However, following 3 months of treatment, the time to peak tidal expiratory flow as a proportion of expiratory time, and volume to peak expiratory flow as a proportion of exhaled volume in group A were significantly higher compared with those in group B. The respiratory rate in group A was significantly lower compared with group B. The symptoms assessment score in group A was significantly higher compared with that of group B. In conclusion, the present study demonstrates that combination therapy with budesonide, montelukast and azithromycin improves pulmonary function and respiratory symptoms in PIBO children <5 years old. The present study was retrospectively registered on March 22, 2020 with register no. YY202003-008-HB03.

Clinical efficacy of tiotropium in children with asthma.

OBJECTIVE: To investigate the clinical efficacy of tiotropium in children with asthma. METHODS: Eighty children with newly diagnosed moderate persistent asthma were enrolled into this study. The children were randomly assigned to the fluticasone propionate aerosol group or the fluticasone propionate aerosol plus tiotropium group for 12 weeks. RESULTS: Lung function was significantly improved in both groups at 4, 8, and 12 weeks compared with baseline (P < 0.01). Moreover, lung function was significantly improved in the tiotropium group compared with the control group (P < 0.05). However, there was no significant difference in the incidence of severe asthma between the two groups (36.3% and 26.8%, respectively; P > 0.05). Compared with the control group, the number of days and frequency of short-acting beta2-adrenoceptor agonist use was significantly reduced in the tiotropium group (P < 0.05). Awakenings during the night were also significantly decreased (P < 0.00). There were no severe adverse reactions in either of the study groups. CONCLUSION: Tiotropium could significantly improve lung function, reduce the use of short-acting beta2-adrenoceptor agonists, and improve sleep in children with asthma. Furthermore, few adverse reactions were reported.