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