1.Expression and implications of human interleukin-32 in acute exacerbation with chronic obstructive pulmonary disease
Xingqi DENG ; Jinyan SHAO ; Wei GU ; Mei LIU ; Deshah CHENG ; Aiyong YU
Chinese Journal of General Practitioners 2012;11(3):195-198
Objective To measure the levels of human interleukin (IL)-32 in the serum and induced sputum of patients with chronic obstructive pulmonary disease (COPD) and investigate the possible roles of IL-32 in COPD.Methods Sixty patients with acute exacerbation of COPD ( AECOPD),60 patients with stable COPD,and 30 healthy subjects were recruited.The concentrations of IL-8,tumor necrosis factor alpha (TNF-α),and IL-32 in serum and induced sputum were measured by enzyme-linked immunosorbent assay (ELISA).The correlations among IL-32,IL-8,TNF-α,and lung functions were investigated. The data were analyzed using a statistical software package (SPSS 13.0).Variables were compared with one-way ANOVA,and correlations among variables were analyzed using Pearson's correlation coefficient or Spearman's correlation coefficient.Results The serum IL-32 level was significantly higher in AECOPD patients [(175 ± 88) ng/L] than in healthy subjects [ (59 ± 21 ) ng/L] and in stable COPD patients [ (89 ± 34) ng/L] (P < 0.05) ; the serum IL-32 level was also significantly higher in stable COPD patients than in healthy subjects (P < 0.05).The sputum IL-32 level was significantly higher in AECOPD patients [ ( 163 ± 117) ng/L] than in healthy subjects [ ( 75 ± 38 ) ng/L] and stable COPD patients [ ( 108 ± 63 )ng/L] (P <0.05); the sputum IL-32 level was also significantly higher in stable COPD patients than in healthy subjects ( P < 0.05 ).The sputum IL-32 level in AECOPD patients was positively correlated with the sputum IL-8 and TNF-α levels (r =0.49 and 0.53,respectively) (P <0.01 ).The sputum IL-32 level in AECOPD patients was negatively correlated with FEV1 predicted values,FEV1/FVC,and PaO2 (r =-0.44to -0.33) (P < 0.01 ).The serum IL-32 level in AECOPD patients was positively correlated with the serum IL-8 and TNF-o levels (r =0.45 and 0.61,respectively) (P < 0.01 ).The serum IL-32 level in AECOPD patients was negatively correlated with FEV1 predicted values,FEV1/FVC,and PaO2 (r =-0.46to - 0.29) ( P < 0.01 ).Conclusions IL-32 may be involved in the pathogenesis of airway inflammation in COPD.IL-32 may be a useful marker of acute exacerbation of COPD.
2.The application and research of using "creating significant learning experiences" in medical general education curriculum
Jinyan SHAO ; Wei JIANG ; Keyu SUN ; Yong ZENG
Chinese Journal of Medical Education Research 2022;21(9):1145-1148
To improve the phenomenon of low participation and lack of innovation in education mode in general medical education elective courses, we have applied "creating significant learning experiences" to the design and implementation of medical general education curriculum, starting from six dimensions of learning including basic knowledge, application, synthesis, humanistic dimension, humanistic care, and learning to learn, setting learning goals, developing assessment tools and finally choosing teaching methods, thus forming a closed-loop teaching. And through the curriculum reform, collection of feedback and collation of data, the teaching activities designed according to this method fully meet and serve the teaching purposes, and assessment methods become more diverse and the content is more comprehensive, which reflects the multi-dimensional evaluation of the needs of general education.
3.TCOF1 Gene variation in Treacher Collins syndrome and evaluation of speech rehabilitation after bone bridge surgery.
Yonghua LI ; Wenyue CHI ; Ken LIN ; Jinyan ZU ; Hua SHAO ; Zhiyong MAO ; Quandong CHEN ; Jing MA
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2023;37(9):748-754
Objective:By analyzing the clinical phenotypic characteristics and gene sequences of two patients with Treacher Collins syndrome(TCS), the biological causes of the disease were determined. Then discuss the therapeutic effect of hearing intervention after bone bridge implantation. Methods:All clinical data of the two family members were collected, and the patients signed the informed consent. The peripheral blood of the proband and family members was extracted, DNA was extracted for whole exome sequencing, and Sanger sequencing was performed on the family members for the mutation site.TCOF1genetic mutations analysis was performed on the paitents. Then, the hearing threshold and speech recognition rate of family 2 proband were evaluated and compared under the sound field between bare ear and wearing bone bridge. Results:In the two pedigrees, the probands of both families presented with auricle deformity, zygomatic and mandibular hypoplasia, micrognathia, hypotropia of the eye fissure, and hypoplasia of the medial eyelashes. The proband of Family 1 also presents with specific features including right-sided narrow anterior nasal aperture and dental hypoplasia, which were consistent with the clinical diagnosis of Treacher Collins syndrome. Genetic testing was conducted on both families, and two heterozygous mutations were identified in the TCOF1 gene: c. 1350_1351dupGG(p. A451Gfs*43) and c. 4362_4366del(p. K1457Efs*12), resulting in frameshift mutations in the amino acid sequence. Sanger sequencing validation of the TCOF1 gene in the parents of the proband in Family 1 did not detect any mutations. Proband 1 TCOF1 c. 1350_1351dupGG heterozygous variants have not been reported previously. The postoperative monosyllabic speech recognition rate of family 2 proband was 76%, the Categories of Auditory Performance(CAP) score was 6, and the Speech Intelligibility Rating(SIR) score was 4. Assessment using the Meaningful Auditory Integration Scale(MAIS) showed notable improvement in the patient's auditory perception, comprehension, and usage of hearing aids. Evaluation using the Glasgow Children's Benefit Inventory and quality of life assessment revealed significant improvements in the child's self care abilities, daily living and learning, social interactions, and psychological well being, as perceived by the parents. Conclusion:This study has elucidated the biological cause of Treacher Collins syndrome, enriched the spectrum of TCOF1 gene mutations in the Chinese population, and demonstrated that bone bridge implantation can improve the auditory and speech recognition rates in TCS patients.
Child
;
Humans
;
Mandibulofacial Dysostosis/genetics*
;
Quality of Life
;
Speech
;
Parents
;
Mutation
;
Nuclear Proteins/genetics*
;
Phosphoproteins/genetics*