Unilateral enlargement of the vestibular aqueduct (EVA)is a relatively rare disease. Bilateral EVA was found to be more common than unilateral EVA. There are significant differences in clinical features and molecular etiology between unilateral EVA and bilateral one. This article reviewed related researches of the unilateral EVA in clinical characteristics, molecular etiology and pathogenic mechanism.
Vestibular Aqueduct ; pathology

OBJECTIVE: Mutations in the GJB2 are the most common cause of nonsyndromic autosomal recessive sensorineural hearing loss. A few mutations in GJB2 have also been reported to cause dominant nonsyndromic or syndromic hearing loss. This study analysised the GJB2 dominant mutation in Chinese deafness. METHOD: 1641 patients as GJB2-related hearing loss were enrolled, summarized the type of dominant mutaion, analyzed the hearing level and other systerm lesion. RESULT: Nine probands with severe-profound hearing loss were diagnosed as GJB2 domiant mutation (R75W,G130V, R143Q,p. R184Q). And one patient with R75W mutation was diagosed as hearing loss and palmoplantar keratoderma. CONCLUSION GJB2 dominant mutation can cause severe-to-profound bilateral sensorineural hearing impairment and not common with syndromic hearing loss in Chinese deafness.
Asian Continental Ancestry Group ; Connexin 26 ; Connexins ; genetics ; Deafness ; genetics ; Hearing Loss ; Hearing Loss, Sensorineural ; Humans ; Keratoderma, Palmoplantar ; Mutation ; Phenotype

Objective To evaluate the effectiveness of aspirin in preventing peripherally inserted central venous catheter (PICC) -related thrombosis. Methods Totally 360 cancer patients who had undergone routine PICC placement were equally randomized into aspirin group (receiving conventional PICC maintenance plus oral administration of aspirin; 100 mg/d, for consecutively 21 days) and control group (conventional PICC catheter maintenance). The incidences of phlebitis and thrombosis were observed in both two groups. Results The incidences of phlebitis and thrombosis were 3.3% and 0 in aspirin group, which were significantly lower than those in control group (8.9% , P = 0. 025; 1.7% , P = 0. 025). Conclusion The oral administration of aspirin after the PICC placement can reduce PICC-related thrombosis and phlebitis.

OBJECTIVE To investigate the genetic causes of deaf patients in a special educational school of Chifeng city, Inner Mongolia by SLC26A4 whole gene sequencing. This study focused on analyzing mutations of coding sequence of SLC26A4 gene and their relevant phenotype. METHODS DNA were extracted from peripheral blood of 134 deaf patients of Chifeng special educational school and 100 normal hearing controls in Northern China. SLC26A4 gene mutation was analyzed by direct sequencing for its 20 coding exons. All individuals found with SLC26A4 mutation were given temporal bone CT scan, and those with confirmed enlarged vestibular aqueduct and/or other malformation of inner ear were then given further ultrasound scan of thyroid and thyroid hormone assays. RESULTS The sequencing results revealed 32 cases carried SLC26A4 mutation. Twenty-nine cases underwent temporal bone CT scan. Twentycases were confirmed to have malformation of inner ear by CT scan (eighteen were EVA, one was EVA and other inner ear malformation and one was Mondini Syndrome). The shape and function of thyroid were confirmed to be normal by ultrasound scan of thyroid and thyroid hormone assays in nineteen of these 20 patients except one who had cystoid change in the right side of thyroid. Twelve types of novel variants of SLC26A4 gene were found. CONCLUSION Byscreening SLC26A4 gene coupled with temporal bone CT scan ,we could determine genetic cause related to this gene up to 14.93 % of deaf patients in special educational school of Chifeng city. SLC26A4 is another common gene besides GJB2 that cause deafness in this area. The discovery of novel variants of SLC26A4 gene makes the mutational and polymorphic spectrum more plentiful in Chinese population.

OBJECTIVE: To analyze the curative effect of CI in children with GJB2-associated NSSNHL. METHOD: The evaluations of curative effect with CI include auditory threshold, IT-MAIS/MAIS, CAP, SIR. MESP. The outcomes of 40 cases with GJB2-associated NSSNHI, were compared 80 patients with negative results of screening of gene mutation (control group). RESULT: In comparison with control group the auditory threshold in children with GJB2-associated NSSNIL is better, however had no significant difference in other tests (P > 0.05). CONCLUSION CI could he performed on children with GJB2-associated NSSNHL. Postoperative outcomes of hearing and speech were satisfied.
Child ; Child, Preschool ; Cochlear Implantation ; Connexin 26 ; Connexins ; genetics ; Female ; Hearing Loss, Sensorineural ; genetics ; surgery ; Humans ; Infant ; Male ; Mutation ; Treatment Outcome

OBJECTIVE: To assess the value of chromosomal microarray analysis (CMA) for the prenatal diagnosis of a fetus with structural anomaly detected by ultrasonography. METHODS: The fetus and its parents were subjected to chromosomal karyotyping and CMA analysis. RESULTS: The fetus was found to carry a 46,XN,t(8;11)(q21.2;q13) translocation which was inherited from its mother. CMA has found no copy number variations (CNVs) in both parents but a de novo 2.00 Mb microdeletion in the fetus at 8q13.3. CONCLUSION CMA is capable of detecting microdeletions and microduplications in fetuses with translocations detected by karyotyping analysis.
Chromosome Aberrations ; Chromosome Deletion ; Chromosomes, Human, Pair 8 ; DNA Copy Number Variations ; Female ; Fetus ; Humans ; Karyotyping ; Microarray Analysis ; Pregnancy ; Prenatal Diagnosis

OBJECTIVE: To study the molecular pathogenesis of SLC26A4 mutations associated with inner ear malformations including large vestibular aqueduct syndrome (LVAS), Mondini dysplasia and inner ear malformations but not accompanied with LVAS. METHOD: DNA sample and clinical material were obtained from 14 sporadic LVAS probands, six Mondini dysplasia probands and seven inner ear malformations excluding IVAS probands. SLC26A4 gene mutation was analyzed by direct sequencing for its 20 coding exons. GJB2 gene and also mt12SrRNA were analyzed by direct sequencing. RESULT: In 14 cases of LVAS, two mutations were detected in 12 patients (85.7%, either homozygous or compound heterozygous mutations), and one mutation was found in two patients (14.3%). In six cases of Mondini dysplasia, two mutations were detected in all of patients (100%). No mutation could be found in the seven cases of other inner ear abnormalities not accompanied with LVAS. No pathogenic mutation was detected in all of these 27 probands in GJB2 gene and mt12SrRNA 1555/1494T. CONCLUSION We have shown that LVAS and Mondini dysplasia closely correlate with SLC26A4 gene. No mutation was detected in seven probands of inner ear malformations not accompanied with LVAS. We should study the molecular pathogenesis of this disease in depth.
Adolescent ; Adult ; Child ; Child, Preschool ; Connexins ; Ear, Inner ; abnormalities ; Exons ; Female ; Genome ; Humans ; Infant ; Male ; Membrane Transport Proteins ; genetics ; Mutation ; Sulfate Transporters ; Syndrome ; Vestibular Aqueduct ; abnormalities ; Young Adult

OBJECTIVE: To analysis the therapeutic procedure on the recurrent congenital fistula or cyst in lateral cervical part. METHOD: Thirty-nine cases with recurrent congenital fistula or cyst in lateral cervical part were enrolled in this study including 12 cases from the first branchial cleft, 6 from the second branchial cleft and 21 from the third branchial cleft. RESULT: All the cases underwent fistula or cyst excision for 2 to 5 times in their whole therapeutic process, not counting the incision and drainage. During 9 months to 17 years follow-up, fistula or cyst in 6 cases relapsed,including 1 fistula from the first branchial cleft,3 fistulae from the second branchial cleft, 1 fistula and 1 cyst from the third branchial cleft, respectively. One case with recurrent fistula from the first branchial cleft was diagnosed temporal verrucous carcinoma six months after the third fistula excision operation and died one year after the forth operation probably due to the intracranial metastasis of temporal bone verrucous carcinoma. In two cases, the fistulae went through the thyroid gland to the piriform fossa and both the fistulae and part of the thyroid glands were resected. In the patients whose inner orificium fistulae were found and ligated effectively,no recurrence occurred during the followed-up period. CONCLUSION The key point to cure the recurrent congenital fistula or cyst in lateral cervical part lies in proper occasion of operation, stain tracing in operation and reasonable program of operation.
Adolescent ; Adult ; Aged ; Branchioma ; congenital ; surgery ; Child ; Child, Preschool ; Female ; Fistula ; congenital ; surgery ; Humans ; Male ; Middle Aged ; Recurrence ; Retrospective Studies ; Young Adult

Objective? To investigate the current situation of intravenous therapy in 38 ClassⅡ and above hospitals in Hu'nan Province and analyze the existing problems. Methods? A questionnaire survey was conducted in 38 hospitals in Hu'nan Province in November 2018 using the Nursing Situation of Intravenous Therapy in Hospitals at All Levels designed by the Professional Committee of Intravenous Therapy and Chinese Nursing Association. To understand the status quo of intravenous therapy, quality management of intravenous therapy, and the status of specialist nurses in intravenous therapy. Results? In 38 hospitals, totally 36 hospitals provided continuous intravenous therapy services through intravenous therapy/peripherally inserted central catheter (PICC) clinics and a designated hospital department; 21 hospitals had established intravenous therapy/PICC clinics; the outpatient service was flexible in form, but the qualification certification of outpatient nurses needed further regulation. The proportion of hospitals carrying out medium and long-term catheter infusion and hospitals carrying out PICC transfusion with Modified Sedinger Technique (MST) puncture guided by ultrasound was 100.00% and 72.22%, respectively. In vascular visualization technology, hospitals using infrared, ultrasound and X-ray technology were 2.63%, 63.16% and 34.21% respectively. There were some gaps in the skin disinfectant and disinfection scope, concentration of flushing and sealing fluid and maintenance frequency between the hospitals and the national standards in peripheral and central venipuncture and catheter maintenance. In terms of quality management of intravenous therapy, 34 hospitals had established intravenous therapy teams, whose quality evaluation criteria are different. In terms of specialist nurses team construction, there were 505 specialist nurses in venous therapy/PICC in 38 hospitals. The structure of specialist nurses had been continuously optimized in terms of education, title and length of service. However, hospitals needed to pay more attention to the development of specialist nurses. Conclusions? The contents of continuous nursing of intravenous therapy need to be further expanded, the management of PICC clinic needs to be strengthened, the standardized use of infusion devices and connectors needs to be improved, the knowledge and practice gap between puncture nursing and catheter maintenance of intravenous therapy exists, and the quality control standards of hospitals need to be standardized and regulated, more attention should be paid to the development of specialist nurses.

Objective To explore the relationship between mitochondrial DNA gene,GJB2 gene mutations and the susceptibility to noise-induced hearing loss in the army,and to provide scientific evidence for gene screening of susceptible individuals and relevant molecular epidemiology.Methods 182 blood samples were collected from 349 soldiers,consisting of susceptible and tolerance groups exposed to military noise in Beijing.Genomic DNA was isolated,and the targeted fragments of mitochondrial DNA and coding region of GJB2 gene were amplified by polymerase chain reaction(PCR).The PCR products were analyzed by direct sequencing.Results The results revealed that there were 98 mtDNA variants(41 reside in 12SrRNA) and 12 GJB2 gene variants;among them,mtDNA T1095C and G7642A coexisted in 4 susceptible individuals,but these mutations were not found in the tolerance group.In addition,3 tolerant individuals carried 961delT+insC while no one was found in the susceptible group.Conclusion The 12SrRNA is an area evidenced by high variant and mutation rate.The coexistence of mtDNA T1095C and G7642A in the susceptible group exposed to the similar noise suggests that these mutations are pathogenic mutations associated with NIHL.Three tolerant individuals with the history of long-term noise exposure carry 961delT+insC,suggesting that 961delT+insC might be a conditional pathogenic mutation,but not correlate with NIHL.