Objective To compare the treatment responses of the inhaled salmeterol and fluticasone (50/500 μg) for three months in the different clinical phenotypes of chronic obstructive pulmonary diseases (COPD) which were chronic bronchitis phenotype and emphysema phenotype and to explore the difference of the treatment responses.Methods To enroll and follow up the stable COPD patients from outpatient department who received the treatment of inhaled salmeterol and fluticasone (50/500 μg).Patients with low attenuation area (LAA,the density on CT scan ＜-950 HU) ≥15％ of the while lung area％ (LAA％) were defined as emphysema group,while patients with LAA％ ＜ 15％ were defined as chronic bronchitis group.All the subjects received lung function test before and after three-month treatment.Results Totally,84 patients (49 male and 35 female patients) with stable COPD were enrolled with an average age (61.04 ±9.23) years old,30 patients in emphysema group and 54 patients in chronic bronchitis group.Before treatment,forced expiratory volume in one second (FEV1) ％ predicted value and residual volume (RV) ％ predicted value in emphysema group were lower than those of chronic bronchitis group (P =0.04 and P =0.01),while inspiratory capacity (IC)％ predicted value was higher than that of chronic bronchitis group (P =0.02).After three-month salmeterol and fluticasone inhalation treatment,FEV1 and RV were improved in both groups,but FEV1 and RV in chronic bronchitis group were improved more significantly than those of emphysema group (P =0.02 and P =0.03).Conclusions The treatment responses of different clinical phenotypes of COPD to inhalation of combination of salmeterol and fluticasone were different,chronic bronchitis phenotype had better treatment response compared to emphysema phenotype.

OBJECTIVE: To explore the clinical characteristics and genetic basis for a child with X-linked lissencephaly with abnormal genitalia (XLAG). METHODS: A child with XLAG who had presented at the Third Affiliated Hospital of Zhengzhou University in May 2021 was selected as the study subject. Peripheral blood samples of the child and his parents were collected and subjected to high-throughput sequencing. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the result was analyzed by using bioinformatic software. RESULTS: The child was found to have harbored a hemizygous c.945_948del variant in exon 2 of the ARX gene, which as a frameshifting variant has resulted in a truncated protein. His mother was found to be heterozygous for the variant, whilst his father was of wild type. The variant was unreported previously. CONCLUSION The hemizygous c.945_948del variant of the ARX gene probably underlay the XLAG in this patient. Above finding has provided a basis for the diagnosis and genetic counseling for this family.
Humans ; Child ; Classical Lissencephalies and Subcortical Band Heterotopias ; Exons ; Computational Biology ; Genetic Counseling ; Genitalia ; Transcription Factors ; Homeodomain Proteins