Objective: To analyze the cystic fibrosis transmembrane conductance regulator (CFTR) gene variations and phenotypes in 7 Chinese children. Methods: In this retrospective study, the data of 7 children with CFTR gene variations admitted to Children's Hospital of Chongqing Medical University from December 2013 to October 2020 were extracted. The general information, clinical manifestations, gene variations, diagnosis and treatment were summarized. Results: Among the 7 children, 2 were males and 5 were females, aged 5.2(0.5-11.3) years. Main clinical manifestations included malnutrition (5 cases), recurrent respiratory infection (4 cases), bronchiectasis (3 cases), steatorrhea (3 cases), vomiting in infancy (2 cases), liver cirrhosis (2 cases), meconium ileus (1 case), metabolic alkalosis and hypochloremia (1 case). A total of 15 variations were found by whole exon sequencing and Sanger sequencing, among which 3 were newly discovered, and 7 were missense mutations. Four children were diagnosed as CF, and the other 3 were diagnosed as CFTR related disease (CFTR-RD). Compared with CF patients, the pancreatic insufficiency and typical CF lung disease were relatively mild in CFTR-RD patients. After treatment, 6 children were clinically improved, while the rest one withdrew treatment due to critical pulmonary infection and disturbance of water-electrolyte metabolism. Conclusions: The loci and phenotypes of CFTR gene variants vary hugely and the pathogenicity of some variations are not clear. Whole exon sequencing can facilitate the identification of CF-and CFTR-RD-causing variaions. For the cases not compatible with CF, CFTR-RD should be considered and evaluated by timely gene detection, so as to carry out appropriate long term management.

Objective To determine the clinical characteristics, treatment, and prognosis of primary tracheobronchial tumors (PTT) in children. Methods The medical records of children with PTT who were hospitalized at the Children's Hospital of Chongqing Medical University from January 1995 through January 2020 were reviewed retrospectively. The clinical features, imaging, and bronchoscopic manifestations, treatment, and outcomes of these patients were summarized. Results Sixteen children were hospitalized with PTT during the study period: five (31.3%) with mucoepidermoid carcinoma (ME), three (18.8%) with inflammatory myofibroblastic tumors (IMT), two (12.5%) with sarcoma, two (12.5%) with papillomatosis, and one (6.3%) each with carcinoid carcinoma, adenoid cystic carcinoma (ACC), hemangioma, and schwannoma. Among them, ME was the most common type of tumor, and we used some statistical and machine learning techniques to predict ME, such as Gaussian naïve Bayes model, SVM(support vector machine) model, and decision tree model. The median age at diagnosis of PPTs was 9.3 years (range, 3–15 years), and the main clinical symptoms were cough (81.3%), breathlessness (50%), wheezing (43.8%), progressive dyspnea (37.5%), hemoptysis (37.5%), and fever (25%). The most frequent complication on chest imaging was atelectasis (56.3%), followed by bronchiectasis (25%) and emphysema (12.5%). Of the 16 patients, seven underwent surgical treatment, eight underwent bronchoscopic tumor resection, and one died. Of the 11 children followed-up, three experienced recurrence, including two who underwent subsequent tracheotomies, both of whom have varying degrees of post-activity shortness of breath. The other eight patients did not experience recurrence. No deaths were observed during follow-up. Conclusion PTTs are very rare in children, with ME having the highest incidence. And the SVM model showed high accuracy with respect to identifying ME. Chest CT and bronchoscopy can diagnose PTT effectively. Surgery is the treatment of choice, although bronchoscopic intervention can achieve good results in patients with unresectable tumors. The prognosis of the 11 followed-up children was good.

Objective:To explore correlation between life quality and their family adaptability and cohesion in children with asthma ,in order to provide scientific basis for improving their life qualities.Methods:Pediatric asthma quality of life questionnaire(PAQLQ) and family adaptability and cohesion scale(FACESII-CV) were used to evaluate 60 caregivers of asthmatic children.Results:There was a significantly positive inter-relationship between the life quality of children with asthma and their family adaptability and cohesion.Conclusion:In order to improve the life quality of children with asthma,we should promote their family adaptability and cohesion,encourage family members to participate therapy plan decision and provide family centered care in addition to routine medical treatment.

Objective: To observe the degree of effect on lung function in childhood asthmatics treated with fluticasone propionate inhalation and BCG-PSN injection. Methods: To test lung function indicators with MasterScope spirometer before and after administration. Results: There exists significsnt difference betreen PEF, FEF25, FEF50 and FEF75 except FVC and FEV1.0 before and after administration in 20 patients. Conclusion: Good result can be attained in symptoms and lung function in asthmatics treated with fluticasone propionate and BCG-PSN.