ABSTRACT
OBJECTIVE To study the gene chip joint pyrosequencing technology in the newborn genetic deafness gene mutation screening, and provide a theoretical basis for the early diagnosis and prevention of genetic deafness. METHODS 2000 Neonatal EDTA umbilical cord blood was collected and genomic DNA (gDNA) was extracted. Microarray chip was used to detect four deafness gene at 9 mutation sites. And the positive result of gene chip detection was verified by pyrosequencing.RESULTS Among the GJB2 mutations, there were 1 case of 35delG mutation type, 3 cases of 176 del16 mutation type, 57 cases of 235del C mutation type, 9 cases of 299 del AT mutation type, 6 cases of GJB3 gene 538C>T mutation type. There were 5 cases of 1555A>G mutations and 1 case of 1494C>T mutations in mitochondrial 12S rRNA. There were 6 cases of 2168A>G mutation type and 23 cases of IVS7-2A>G mutations in SLC26A4. 103 cases of newborns carry the mutated gene in 2,000, the gene mutation rate is 5.15%. CONCLUSION All the four genes mutation at nine mutation sites are found in newborns with family history of non-hereditary deafness, and GJB2 gene mutation is common. The screening of genetic deafness in newborns is very important for early diagnosis and prevention of hereditary hearing loss. In particular, the diagnosis of mitochondrial 12S rRNA gene mutation can prevent the occurrence of deafness caused by drug use, for the genetic mutation of these carriers' health is of great significance.
ABSTRACT
Objective To study the clinical therapeutic effect of the combined antihistamine for the treatment of allergic pharyngitis.Methods In January 2015 to December 2016 during the hospital outpatient service received by irritating cough,50 patients with pharyngeal itching for the main symptoms as the object of study,summary and analysis on the clinical symptoms of all patients,in the conventional treatment on the basis of leukotriene receptor antagonist combined antihistamines treatment,close observation after 1 week,2 weeks after treatment in patients with symptoms improved after treatment.Results The clinical main characteristic of allergic pharyngitis is the irritating dry cough,and the first pharynx is a cough.After a week of treatment,the symptoms of the patient were significantly improved,and after two weeks of treatment,the symptoms of the patient continued to be improved and the results were significant.Conclusion In clinical patients with cough,is one of the most important causes of allergic pharyngitis,if the patient is not adopted in treatment of anti-allergic drugs,can lead to therapeutic effect,but the joint antihistamines leukotriene receptor antagonist treatment,can effectively eliminate the symptoms of allergic pharyngitis,obvious effect,effectively improve the patient's quality of life.