Hearing loss is the most prevalent disabling disease. Cochlear implantation（CI） serves as the primary intervention for severe to profound hearing loss. This consensus systematically explores the value of genetic diagnosis in the pre-operative assessment and efficacy prognosis for CI. Drawing upon domestic and international research and clinical experience, it proposes an evidence-based medicine three-tiered prognostic classification system（Favorable, Marginal, Poor）. The consensus focuses on common hereditary non-syndromic hearing loss（such as that caused by mutations in genes like GJB2, SLC26A4, OTOF, LOXHD1） and syndromic hereditary hearing loss（such as Jervell & Lange-Nielsen syndrome and Waardenburg syndrome）, which are closely associated with congenital hearing loss, analyzing the impact of their pathological mechanisms on CI outcomes. The consensus provides recommendations based on multiple round of expert discussion and voting. It emphasizes that genetic diagnosis can optimize patient selection, predict prognosis, guide post-operative rehabilitation, offer stratified management strategies for patients with different genotypes, and advance the application of precision medicine in the field of CI.
Humans ; Cochlear Implantation ; Prognosis ; Hearing Loss/surgery* ; Consensus ; Connexin 26 ; Mutation ; Sulfate Transporters ; Connexins/genetics*

Objective: To explore the changes and signiifcance of serum level of salusins in patients with essential hypertension (EH), obstructive sleep apnea hypopnea syndrome (OSAHS) and OSAHS complicated hypertension.
Methods: Our research included 4 groups: EH+OSAHS group,n=50, EH group,n=60, OSAHS group,n=35 and Control group,n=31 healthy subjects. Blood pressure, AHI index, body weight, height and routine biochemical examination were conducted and recorded in all subjects, serum levels of salusin-α and salusin-β were detected by ELISA, the relationship between each variable and OSAHS complicated hypertension was studied by multivariate Logistic regression analysis.
Results:①Serum levels of salusin-α were reduced accordingly as in Control group (7.438±1.626) pg/ml, in OSAHS group (6.186±1.200) pg/ml, in EH group (5.938±1.287) pg/ml and in EH+OSAHS group (5.299±1.398) pg/ml; for difference between OSAHS group and EH group,P>0.05 and for differences between other groups, allP<0.01.②Serumlevels of salusin-βwere decreased accordingly as in Control group (10.575±1.791) pg/ml, in OSAHS group (10.279±0.530) pg/ml, in EHgroup (9.698±0.344) pg/ml and in EH+OSAHS group (9.070±0.586) pg/ml; for differences between OSAHS group and Control group, EH group, bothP>0.05 and fordifferences between other groups, allP<0.05.③Multivariate Logistic regression analysis showed that serum level of salusin-α was independently and negatively related to OSAHS complicated hypertension (OR=-0.736,P<0.05); serum level of salusin-β was independently and negatively related to OSAHS complicated hypertension (r=-0.731,P<0.05).
Conclusion: Low serum levels of salusin-α and salusin-β were related to OSAHS complicated hypertension.

OBJECTIVE: To investigate the meaning of the mutation screening, prevalence, inheritance and the intervention or the prevention for the specific drugs in 10 families with non-syndrome hearing loss in Yunnan Province, China. METHOD: To do a questionnaire about the cases of ten families with non-syndrome hearing loss and to draw a detailed matriarchal family tree detailed. Following that, the A1555G mutation-positive individuals were detected and confirmed using DNA extracting, PCR amplification and sequencing for family volunteer. RESULT: There are 96 members have attended the blood collection in these ten families. Thirty-six of them had the normal hearing and 60 of them had the sensory neural hearing loss. However, 4 out of those had no A1555G point mutation, and 92 had A1555G point mutation (95.8%). While 7 of those were Heterogeneity, the rest were all homogeneous mutation. There were also 73 patients who had amino glycoside antibiotic medication history. However all the rest cases had a history of amino glycoside antibiotic medication were not clear yet. CONCLUSION The proportion of patients with drug-induced deafness is high in Yunnan province and the mutation rate of mitochondrial DNA A1555G is also high. It is worthy to do DNA 12SrRNA A1555G mutation screening for drug intervention and prevention.
Adolescent ; Adult ; Aged ; Child ; China ; epidemiology ; DNA Mutational Analysis ; DNA, Mitochondrial ; genetics ; Deafness ; epidemiology ; genetics ; Female ; Humans ; Male ; Middle Aged ; Pedigree ; Point Mutation ; RNA, Ribosomal ; genetics ; Young Adult

OBJECTIVE: To study the clinical and sequence character of the entire mitochondrial genome in five subjects with mitochondrial 12SrRNA T1095C mutation, and to analyze its relationship with the military noise-induced hearing loss (NIHL). METHOD: Three hundreds and four soldiers exposed to military noise were selected in Yunan and Beijing, including susceptible (experimental) and tolerance (control) groups. Mitochondrial 12SrRNA T1095C mutation were found in 5 subjects. Then the complete nucleotide sequence of five subjects were sequenced and its clinical character were analyzed. RESULT: m12SrRNA T1095C mutation were identified in 5 subjects of experimental group,and none were found in control group. There was significant difference between them (P < 0.05). All five soldiers had the history of military noise exposure and showed sensorineural deafness of different degrees. Sequence analysis of the complete mitochondrial genomes showed the distinct sets of mtDNA polymorphism besides T1095C mutation in five subjects. CONCLUSION The T1095C mutation in hearing loss subjects with various genetic background and history of military noise exposure, is involved in the pathogenesis of hearing impairment. It indicates that the T1095C mutation do relate well with military noise induced-hearing loss.
Adult ; Base Sequence ; DNA, Mitochondrial ; genetics ; Hearing Loss, Noise-Induced ; genetics ; Humans ; Male ; Military Personnel ; Mutation ; Young Adult