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 investigate the neurorestorative effect of basic fibroblast growth factor (bFGF) on neurological function recovery in rats with spinal cord injury and its potential mechanisms.Methods:Ninety adult SD rats were selected and randomly divided into 6 groups using a random number table: sham-operated group ( n=24), spinal cord injury group ( n=24), bFGF group ( n=24), bFGF autophagy pathway validation group ( n=6), bFGF+rapamycin group ( n=6), and bFGF+MHY1485 group ( n=6). A spinal cord injury model was established by impacting the T 10 spinal cord segment using a self-made Allen′s weight-drop impactor. The sham-operated group underwent a 3 cm midline dorsal incision without spinal cord injury; the bFGF group received immediate intrathecal injection of 100 μl bFGF solution (20 μg/L) after injury; the sham surgery group and spinal cord injury group received an equal volume of saline after injury; the bFGF autophagy pathway validation group received the identical treatment as the bFGF group; the bFGF+rapamycin group received the same treatment as the bFGF group with additional intraperitoneal injection of rapamycin (4 mg·kg -1·d -1); the bFGF+MHY1485 group received the identical bFGF treatment plus intraperitoneal injection of MHY1485 (10 mg·kg -1·d -1). At 28 days after injury, the rats were sacrificed and the spinal cord tissue was collected at 5 mm from the injury epicenter for HE staining and pathological observation. At 7, 14, 21, and 28 days after injury, BBB scoring was used to assess hindlimb motor function; P wave latency and P1-N1 wave amplitude were recorded to evaluate neuroelectrophysiological changes; Western blot analysis was performed to detect the expression levels of phosphorylated mammalian target of rapamycin (p-mTOR)/mammalian target of rapamycin (mTOR) and microtubule-associated protein light chain 3-II (LC3-II) and evaluate changes in mTOR signaling pathway and autophagy activity. At 28 days after injury, behavioral alterations, neuroelectrophysiological changes, and auctophagy-related protein expression levels were assessed in the bFGF autophagy pathyway validation group, bFGF+rapamycin group and bFGF+MHY1485 group. Results:At 28 days after injury, the sham-operated group exhibited regular nuclear morphology, while the spinal cord injury group showed disordered cell structures and the bFGF group displayed relatively normal nuclear morphology. At 7, 14, 21, and 28 days after injury, the BBB scores in both the spinal cord injury group and bFGF group were lower than those in the sham-operated group ( P<0.01), with higher scores in the bFGF group than those in the spinal cord injury group ( P<0.01). At 7, 14, 21, and 28 days after injury, P-wave latency was longer and P1-N1 wave amplitude was lower in both the spinal cord injury group and bFGF group compared to those in the sham-operated group ( P<0.01), with shorter P-wave latency and higher P1-N1 wave amplitude in the bFGF group compared to those in the spinal cord injury group ( P<0.01). Western blot results indicated that at 7, 14, 21, and 28 days after injury, in the spinal cord injury group, p-mTOR/mTOR levels were lower than those in both the sham-operated group and bFGF group ( P<0.01), while LC3-II expression levels were higher ( P<0.01); in the bFGF group, p-mTOR/mTOR levels were higher than those in the spinal cord injury group but lower than those in the sham-operated group ( P<0.01), and LC3-II expression levels were lower than those in the spinal cord injury group but higher than those in the sham-operated group ( P<0.01). At 28 days after injury, the BBB scores were higher in both the bFGF autophagy pathway validation group and bFGF+MHY1485 group than those in the bFGF+rapamycin group ( P<0.01), with higher scores in the bFGF+MHY1485 group than those in the bFGF autophagy pathway validation group ( P<0.01). P-wave latency was shorter in both the bFGF autophagy pathway validation group and bFGF+MHY1485 group than those in the bFGF+rapamycin group ( P<0.01), with shorter P-wave latency in the bFGF+MHY1485 group than that in the bFGF autophagy pathway validation group ( P<0.01). P1-N1 wave amplitude was lower in both the bFGF autophagy pathway validation group and bFGF+MHY1485 group than that in the bFGF+rapamycin group ( P<0.01), with lower P1-N1 wave amplitude in the bFGF+MHY1485 group than that in the bFGF autophagy pathway validation group ( P<0.01). The p-mTOR/mTOR levels were higher in both the bFGF autophagy pathway validation group and bFGF+MHY1485 group than those in the bFGF+rapamycin group ( P<0.01), with higher p-mTOR/mTOR levels in the bFGF+MHY1485 group than those in the bFGF autophagy pathway validation group ( P<0.01). The LC3-II expression levels were higher in both the bFGF autophagy pathway validation group and bFGF+MHY1485 group than those in the bFGF+rapamycin group ( P<0.01), with higher LC3-II expression levels in the bFGF+MHY1485 group than those in the bFGF autophagy pathway validation group ( P<0.01). Conclusion:bFGF can improve the pathological state, motor behavior, and neuroelectrophysiological function in rats with spinal cord injury, for which the mechanism of action may involve downregulating cellular autophagy function by activating the mTOR pathway, thereby inhibiting excessive autophagy to promote neuronal regeneration and repair.

Objective:To investigate the neurorestorative effect of basic fibroblast growth factor (bFGF) on neurological function recovery in rats with spinal cord injury and its potential mechanisms.Methods:Ninety adult SD rats were selected and randomly divided into 6 groups using a random number table: sham-operated group ( n=24), spinal cord injury group ( n=24), bFGF group ( n=24), bFGF autophagy pathway validation group ( n=6), bFGF+rapamycin group ( n=6), and bFGF+MHY1485 group ( n=6). A spinal cord injury model was established by impacting the T 10 spinal cord segment using a self-made Allen′s weight-drop impactor. The sham-operated group underwent a 3 cm midline dorsal incision without spinal cord injury; the bFGF group received immediate intrathecal injection of 100 μl bFGF solution (20 μg/L) after injury; the sham surgery group and spinal cord injury group received an equal volume of saline after injury; the bFGF autophagy pathway validation group received the identical treatment as the bFGF group; the bFGF+rapamycin group received the same treatment as the bFGF group with additional intraperitoneal injection of rapamycin (4 mg·kg -1·d -1); the bFGF+MHY1485 group received the identical bFGF treatment plus intraperitoneal injection of MHY1485 (10 mg·kg -1·d -1). At 28 days after injury, the rats were sacrificed and the spinal cord tissue was collected at 5 mm from the injury epicenter for HE staining and pathological observation. At 7, 14, 21, and 28 days after injury, BBB scoring was used to assess hindlimb motor function; P wave latency and P1-N1 wave amplitude were recorded to evaluate neuroelectrophysiological changes; Western blot analysis was performed to detect the expression levels of phosphorylated mammalian target of rapamycin (p-mTOR)/mammalian target of rapamycin (mTOR) and microtubule-associated protein light chain 3-II (LC3-II) and evaluate changes in mTOR signaling pathway and autophagy activity. At 28 days after injury, behavioral alterations, neuroelectrophysiological changes, and auctophagy-related protein expression levels were assessed in the bFGF autophagy pathyway validation group, bFGF+rapamycin group and bFGF+MHY1485 group. Results:At 28 days after injury, the sham-operated group exhibited regular nuclear morphology, while the spinal cord injury group showed disordered cell structures and the bFGF group displayed relatively normal nuclear morphology. At 7, 14, 21, and 28 days after injury, the BBB scores in both the spinal cord injury group and bFGF group were lower than those in the sham-operated group ( P<0.01), with higher scores in the bFGF group than those in the spinal cord injury group ( P<0.01). At 7, 14, 21, and 28 days after injury, P-wave latency was longer and P1-N1 wave amplitude was lower in both the spinal cord injury group and bFGF group compared to those in the sham-operated group ( P<0.01), with shorter P-wave latency and higher P1-N1 wave amplitude in the bFGF group compared to those in the spinal cord injury group ( P<0.01). Western blot results indicated that at 7, 14, 21, and 28 days after injury, in the spinal cord injury group, p-mTOR/mTOR levels were lower than those in both the sham-operated group and bFGF group ( P<0.01), while LC3-II expression levels were higher ( P<0.01); in the bFGF group, p-mTOR/mTOR levels were higher than those in the spinal cord injury group but lower than those in the sham-operated group ( P<0.01), and LC3-II expression levels were lower than those in the spinal cord injury group but higher than those in the sham-operated group ( P<0.01). At 28 days after injury, the BBB scores were higher in both the bFGF autophagy pathway validation group and bFGF+MHY1485 group than those in the bFGF+rapamycin group ( P<0.01), with higher scores in the bFGF+MHY1485 group than those in the bFGF autophagy pathway validation group ( P<0.01). P-wave latency was shorter in both the bFGF autophagy pathway validation group and bFGF+MHY1485 group than those in the bFGF+rapamycin group ( P<0.01), with shorter P-wave latency in the bFGF+MHY1485 group than that in the bFGF autophagy pathway validation group ( P<0.01). P1-N1 wave amplitude was lower in both the bFGF autophagy pathway validation group and bFGF+MHY1485 group than that in the bFGF+rapamycin group ( P<0.01), with lower P1-N1 wave amplitude in the bFGF+MHY1485 group than that in the bFGF autophagy pathway validation group ( P<0.01). The p-mTOR/mTOR levels were higher in both the bFGF autophagy pathway validation group and bFGF+MHY1485 group than those in the bFGF+rapamycin group ( P<0.01), with higher p-mTOR/mTOR levels in the bFGF+MHY1485 group than those in the bFGF autophagy pathway validation group ( P<0.01). The LC3-II expression levels were higher in both the bFGF autophagy pathway validation group and bFGF+MHY1485 group than those in the bFGF+rapamycin group ( P<0.01), with higher LC3-II expression levels in the bFGF+MHY1485 group than those in the bFGF autophagy pathway validation group ( P<0.01). Conclusion:bFGF can improve the pathological state, motor behavior, and neuroelectrophysiological function in rats with spinal cord injury, for which the mechanism of action may involve downregulating cellular autophagy function by activating the mTOR pathway, thereby inhibiting excessive autophagy to promote neuronal regeneration and repair.

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