OBJECTIVE: Explore the relationship between the pathogenic mutations of SLC26A4 gene and inner ear malformation, and analyze the feasibility of genetic testing to help current diagnosis in part of children with sensorineural hearing loss. METHOD: 2094 cases of children were detected by SLC26A4 with the method of DNA sequence. CT phenotypes of those children were classified according to the method proposed by Sennaroglu. We analyzed the relationship between the pathogenic mutations of gene and the CT phenotypes. RESULT: (1) 685 cases of inner ear malformations were found in 2094 cases of children with sensorineural hearing loss by CT examination (371 cases of cochlea malformation were consisted of the follow types of malformation. Michel deformity was 6 cases, cochlea aplasia was 8 cases, common cavity deformity was 12 cases, incomplete partition type I was 27 cases, cochlea hypoplasia was 30 cases and Mondini malformation was 288 cases); Vestibular aqueduct was 265 cases; Vestibular/semicircular canal/internal auditory canal were 49 cases, normal was 1409 cases. (2) The DNA sequence results revealed that 465 cases carried pathogenic mutations (Bi-allelic mutations) of SLC26A4 gene, among which 135 cases were homozygous, 330 cases were compound heterozygous. (3) Pathogenic mutations of SLC26A4 gene detected 100% (465/465) in the group related to vestibular aqueduct malformation. CONCLUSION The results suggest that pathogenic mutation of SLC26A4 gene is closely related to the CT phenotype of vestibular aqueduct malformation. Detecting of pathogenic mutations for hearing loss is binging the possibility to identify children with inner malformations at an early stage. As a consequence, it will improve the current diagnosis and therapeutical option.
Alleles ; Child ; Cochlea ; Deafness ; Ear, Inner ; abnormalities ; Genetic Testing ; Hearing Loss ; Hearing Loss, Sensorineural ; Humans ; Membrane Transport Proteins ; genetics ; Mutation ; Phenotype ; Semicircular Canals ; Sulfate Transporters ; Temporal Bone ; Vestibular Aqueduct ; Vestibule, Labyrinth

OBJECTIVE: To investigate the changes of humoral and cellular immune responses in children with OSAHS after adenoidectomy with tonsil ablation or partial tonsillectomy by a plasma-mediated radiofrequency-based device. METHOD: Seventy children with OSAHS were enrolled in the study. According to the size of tonsils, they were divided into two groups: the adenoidectomy with tonsil ablation group and the adenoidectomy with partial tonsillectomy group. 4 ml of peripheral venous blood was drawn before and 1 month, 3 months after operation. Serum IgG, IgA, IgM levels and peripheral blood T lymphocyte subsets were measured. RESULT: In the adenoidectomy with tonsil ablation group, the level of CD3+ and CD4+ /CD8+ ration were slightly increased, while the levels of CD4+ and CD8+ were slightly reduced at 1 month after operation as compared to preoperative period. However, in the adenoidectomy with partial tonsillectomy group, the levels of CD8+ at 1 month after operation were slightly increased compared with that in preoperative examination, while the CD3+, CD4+ level and the CD4+/CD8+ ratio were slightly reduced during the same period. In addition, the levels of serum immunoglobulins showed no significant difference between the two groups, and returned to the preoperative levels at 3 months after operation in both groups (P > 0.05). CONCLUSION The results of the present study indicate that the humoral and cellular immunity is not affected in children with OSAHS who undergo adenoidectomy with tonsil ablation or partial tonsillectomy using plasma-mediated radiofrequency ablation. The patients' immune functions can return to normal levels at 3 months after the surgery.
Adenoidectomy ; Child ; Child, Preschool ; Cryosurgery ; methods ; Female ; Humans ; Immunity, Cellular ; Immunity, Humoral ; Immunoglobulin A ; blood ; Immunoglobulin G ; blood ; Immunoglobulin M ; blood ; Male ; Palatine Tonsil ; surgery ; Postoperative Period ; Sleep Apnea, Obstructive ; immunology ; surgery ; T-Lymphocyte Subsets ; immunology ; Tonsillectomy ; Treatment Outcome

OBJECTIVE: Exploring a method of rhinoplasty and septoplasty to get better nasal function and aesthetic effect. METHOD: 1) Using endoscopic rhinoplasty and septoplasty, separating the joint of quadrangular cartilage and the bones around it, resecting vertical and horizontal strip of the deviated septal cartilage and fracturing the deviated septal bones and reconstructing them with three layers (mucosa-cartilage or bone-mucosa), positing the reconstructed septum in the middle between two lateral walls of nasal cavity, proper space between septum and turbinates was maintained. 2) The caudal part of quadrangular cartilage was resected and placed in the columella pocket between the two medial parts of the alar cartilage and the supporting function of the septal cartilage was maintained. RESULT: Compared with traditional nasal septal reconstruction surgery, our method got better functional and aesthetic outcome. CONCLUSION The anatomic three layers were preserved in our method, thus it is better than the traditional methods. The caudal septal cartilage should be used as the perfect material in rhinoplasty.
Adolescent ; Adult ; Aged ; Endoscopy ; Female ; Humans ; Male ; Middle Aged ; Nasal Septum ; surgery ; Rhinoplasty ; methods ; Young Adult

OBJECTIVE: To investigate the correlation between allergic rhinitis and obstructive sleep apnea-hypopnea (OSAHS) syndrome in children. METHOD: (1) According to medical history, physical signs, skin-prick test, serum sIgE, endoscopic examination and polysomnography, the incidence of allergic rhinitis was confirmed in 574 cases of childhood obstructive sleeping apnea-hypopnea syndrome in our hospital between July in 2008 to June in 2010. (2) Effects of anti-allergic drugs were observed on 78 children with OSAHS and allergic rhinitis meanwhile. RESULT: (1) 258 cases of allergic rhinitis were confirmed in 574 cases of OSAHS, accounting for 44.9% of the OSAHS cases and 50.4% of all cases of allergic rhinitis during the same period. Most of them were perennial allergic rhinitis (223 cases, 86.4%), and 72.5% of them were aroused by fungal allergen. Compared with other allergen, statistically significant difference was found (P < 0.05). (2) After receiving anti-allergic drugs regularly for 3 weeks, 40 cases suffering from mild and moderate OSAHS and allergic rhinitis, 3 cases out of 38 cases suffering from serious OSAHS and allergic rhinitis showed satisfactory results, while other cases had little improvement. CONCLUSION Allergic rhinitis is closely related to childhood OSAHS, and perennial allergic rhinitis dominates. The most common allergen is fungal allergen, the second is house and flour dust mites. So for patients of mild and moderate OSAHS with allergic rhinitis, regular anti-allergic drugs can lighten OSAHS effectively and may make patients avoid surgery. Severe OSAHS cases can receive surgical intervention if prior anti allergic therapy fails. Anti allergic therapy should be adopted routinely after tonsillectomy and adenoidectomy in case of hypopnea due to hypertrophy of inferior turbinate or tubal torus in allergic rhinitis.
Child ; Child, Preschool ; Female ; Humans ; Lymphoid Tissue ; pathology ; Male ; Rhinitis, Allergic, Perennial ; complications ; pathology ; Sleep Apnea, Obstructive ; complications ; Turbinates ; pathology

Objective:To investigate the characteristics of pulmonary function changes and its possible influencing factors in patients with pneumoconiosis.Methods:In December 2019, pneumoconiosis patients hospitalized in four departments of occupational diseases in Hunan Occupational Disease Prevention and Control Hospital from December 2015 to December 2016 were selected as subjects. Lung function including forced vital capacity (FVC) , FVC%, forced expiratory volume in one second (FEV1) , FEV1%, forced expiratory volume in one second / forced vital capacity (FEV1/FVC) , diffusion capacity of the lung foe carbon monoxide% (DLCO%) 、maximal expiratory rlow 75% (MEF75%) , maximal expiratory rlow 50% (MEF50%) and maximal expiratory rlow 25% (MEF25%) were tested, and collect their age, occupation history, smoking history and Chronic Obstructive Pulmonary Disease Self Rating Questionnaire (CAT) score. They were followed up after 3 years to analyze the 3-year decline rates of lung function indicators and their relationship with stage of pneumoconiosis, age, smoking index, baseline values of lung function and CAT score.Results:265 cases were studied effectively. After 3 years, the values of 9 lung function indicators of pneumoconiosis patients were significantly lower than those of 3 years ago ( P<0.05) . The decline rates of FEV1%, FEV1/FVC, MEF75%, MEF50% and MEF25% were positively correlated with the stage of pneumoconiosis ( r=0.250, 0.290, 0.219, 0.280, 0.141, P<0.05) . The decline rates of FEV1% and MEF75% were positively correlated with smoking index ( r=0.148, 0.152, P<0.05) . The decline rates of DLCO% and MEF25% were positively correlated with the baseline value of initial pulmonary function ( r=0.276, 0.153, P<0.05) , while the decline rates of FEV1%, FEV1/FVC and MEF50% were negatively correlated with the baseline values of initial pulmonary function ( r=-0.215, -0.146, -0.214, P<0.05) . The decline rates of FVC%, FEV1%, MEF75% and MEF50% were positively correlated with the changes of CAT scores ( r=0.147, 0.208, 0.210, 0.196, P<0.05) . Logistic regression analysis showed that old age and high initial value of DLCO% were the risk factor for the decline of DLCO% ( OR=1.105、1.078, P<0.05) .High smoking index was the risk factors for the decline of MEF75% ( OR=1.016, P<0.05) . High stage and the increase of CAT score were the risk factors for the decline of MEF50% ( OR=1.548, 1.162, P<0.05) . High initial value of MEF25% was the risk factor for the decline of MEF25% ( OR=1.010, P<0.05) . Conclusion:The pulmonary function index of pneumoconiosis patients declined significantly in 3 years. The stage of pneumoconiosis, age, smoking index and degree of pulmonary function damage were related to the decline rate of pulmonary function.

Objective:Using bibliometrics to study the international literature on fat transplantation in recent 10 years, and to explore the research status, hot spots and development trend in this field.Methods:Literatures related to fat transplantation research from 2011 to 2020 were searched through the core collection of Web of Science database, and the literatures were screened strictly according to inclusion and exclusion criteria. Statistical analysis was conducted on the year, journal, first author, number of articles published by countries and institutions, and distribution of disciplines by bibliometrics. Citespace5.7.R5W software was used for co-citation analysis of the included literatures. Cooccurrence analysis and emergent word analysis were also carried out on the keywords in the literature. VOSviewer1.6.16 software was used to perform visual clustering of terms in the title and abstract of the included literature to reveal hot topics and research frontiers.Results:A total of 4 901 papers were included, and the number of annual publications continued to increase from 2011 to 2020. The top three publications during the study period were Plastic and Reconstructive Surgery (320 papers), Aesthetic Surgery Journal (171 papers), and PLoS One (113 papers). The first authors were Rafael Denadai (13 papers), Gentile Pietro(12 papers), Khouri Roger(6 papers). The most productive countries and institutions in this field were the United States (1 646 papers), China (853 papers), and Italy (383 papers). The organizations with the largest number of publications were the University of Pittsburgh (96 papers), Shanghai Jiao Tong University (78 papers), and Milan University (63 papers). There were 87 research categories in the literature related to fat transplantation, of which surgery was involved mostly. Visual analysis of Cites Pace5.7.R5W software showed that 4 901 references had established a co-citation network consisting of 381 nodes, 608 links and 12 clusters. There were 69 599 keywords in the literature, and the top five keywords from high to low were "transplantation" "adipose tissue" "stem-cell" "tissue" , and "obesity" . In the literature, the keywords with the highest intensity of outburst was "outcome" , and the keywords with the longest duration of outburst was "cartilage" . In recent years, the five keywords with outburst were "liver disease" "trial" "stromal vascular fraction" "outcome" , and " Akkermansia muciniphila" . VOSviewer1.6.16 software visualization clustering result showed that the application of fat transplantation in plastic surgery, the source of adipose tissue and its survival mechanism in vivo, and the laboratory research on fat regeneration were the three hot spots in the field of fat transplantation technology. Conclusions:The research on fat transplantation is on the rise in the world, and research institutions at home and abroad are conducting in-depth exploration on fat transplantation. Recent research focuses on improving the long-term survival rate of fat transplantation, and the research level is gradually in-depth at the molecular level.

Objective:To investigate the characteristics of pulmonary function changes and its possible influencing factors in patients with pneumoconiosis.Methods:In December 2019, pneumoconiosis patients hospitalized in four departments of occupational diseases in Hunan Occupational Disease Prevention and Control Hospital from December 2015 to December 2016 were selected as subjects. Lung function including forced vital capacity (FVC) , FVC%, forced expiratory volume in one second (FEV1) , FEV1%, forced expiratory volume in one second / forced vital capacity (FEV1/FVC) , diffusion capacity of the lung foe carbon monoxide% (DLCO%) 、maximal expiratory rlow 75% (MEF75%) , maximal expiratory rlow 50% (MEF50%) and maximal expiratory rlow 25% (MEF25%) were tested, and collect their age, occupation history, smoking history and Chronic Obstructive Pulmonary Disease Self Rating Questionnaire (CAT) score. They were followed up after 3 years to analyze the 3-year decline rates of lung function indicators and their relationship with stage of pneumoconiosis, age, smoking index, baseline values of lung function and CAT score.Results:265 cases were studied effectively. After 3 years, the values of 9 lung function indicators of pneumoconiosis patients were significantly lower than those of 3 years ago ( P<0.05) . The decline rates of FEV1%, FEV1/FVC, MEF75%, MEF50% and MEF25% were positively correlated with the stage of pneumoconiosis ( r=0.250, 0.290, 0.219, 0.280, 0.141, P<0.05) . The decline rates of FEV1% and MEF75% were positively correlated with smoking index ( r=0.148, 0.152, P<0.05) . The decline rates of DLCO% and MEF25% were positively correlated with the baseline value of initial pulmonary function ( r=0.276, 0.153, P<0.05) , while the decline rates of FEV1%, FEV1/FVC and MEF50% were negatively correlated with the baseline values of initial pulmonary function ( r=-0.215, -0.146, -0.214, P<0.05) . The decline rates of FVC%, FEV1%, MEF75% and MEF50% were positively correlated with the changes of CAT scores ( r=0.147, 0.208, 0.210, 0.196, P<0.05) . Logistic regression analysis showed that old age and high initial value of DLCO% were the risk factor for the decline of DLCO% ( OR=1.105、1.078, P<0.05) .High smoking index was the risk factors for the decline of MEF75% ( OR=1.016, P<0.05) . High stage and the increase of CAT score were the risk factors for the decline of MEF50% ( OR=1.548, 1.162, P<0.05) . High initial value of MEF25% was the risk factor for the decline of MEF25% ( OR=1.010, P<0.05) . Conclusion:The pulmonary function index of pneumoconiosis patients declined significantly in 3 years. The stage of pneumoconiosis, age, smoking index and degree of pulmonary function damage were related to the decline rate of pulmonary function.

Objective:Using bibliometrics to study the international literature on fat transplantation in recent 10 years, and to explore the research status, hot spots and development trend in this field.Methods:Literatures related to fat transplantation research from 2011 to 2020 were searched through the core collection of Web of Science database, and the literatures were screened strictly according to inclusion and exclusion criteria. Statistical analysis was conducted on the year, journal, first author, number of articles published by countries and institutions, and distribution of disciplines by bibliometrics. Citespace5.7.R5W software was used for co-citation analysis of the included literatures. Cooccurrence analysis and emergent word analysis were also carried out on the keywords in the literature. VOSviewer1.6.16 software was used to perform visual clustering of terms in the title and abstract of the included literature to reveal hot topics and research frontiers.Results:A total of 4 901 papers were included, and the number of annual publications continued to increase from 2011 to 2020. The top three publications during the study period were Plastic and Reconstructive Surgery (320 papers), Aesthetic Surgery Journal (171 papers), and PLoS One (113 papers). The first authors were Rafael Denadai (13 papers), Gentile Pietro(12 papers), Khouri Roger(6 papers). The most productive countries and institutions in this field were the United States (1 646 papers), China (853 papers), and Italy (383 papers). The organizations with the largest number of publications were the University of Pittsburgh (96 papers), Shanghai Jiao Tong University (78 papers), and Milan University (63 papers). There were 87 research categories in the literature related to fat transplantation, of which surgery was involved mostly. Visual analysis of Cites Pace5.7.R5W software showed that 4 901 references had established a co-citation network consisting of 381 nodes, 608 links and 12 clusters. There were 69 599 keywords in the literature, and the top five keywords from high to low were "transplantation" "adipose tissue" "stem-cell" "tissue" , and "obesity" . In the literature, the keywords with the highest intensity of outburst was "outcome" , and the keywords with the longest duration of outburst was "cartilage" . In recent years, the five keywords with outburst were "liver disease" "trial" "stromal vascular fraction" "outcome" , and " Akkermansia muciniphila" . VOSviewer1.6.16 software visualization clustering result showed that the application of fat transplantation in plastic surgery, the source of adipose tissue and its survival mechanism in vivo, and the laboratory research on fat regeneration were the three hot spots in the field of fat transplantation technology. Conclusions:The research on fat transplantation is on the rise in the world, and research institutions at home and abroad are conducting in-depth exploration on fat transplantation. Recent research focuses on improving the long-term survival rate of fat transplantation, and the research level is gradually in-depth at the molecular level.