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 compare the preoperative presentation, intraoperative findings, and postoperative outcomes between middle ear cholesteatoma with tympanosclerosis （MECwTS） and middle ear cholesteatoma without tympanosclerosis （MECw/oTS）, thereby investigating the clinical characteristics of MECwTS. Methods:A retrospective analysis was conducted on the clinical data of 120 patients with middle ear cholesteatoma. Patients were divided into two groups based on the presence or absence of concomitant tympanosclerosis: the MECwTS group （n=49） and the MECw/oTS group （n=71）. All patients underwent preoperative evaluations including temporal bone CT, otoscopic examination, pure-tone audiometry, tympanometry, and assessment using the Zurich Chronic Middle Ear Inventory （ZCMEI-21） quality of life scale. All patients underwent canal wall down mastoidectomy with tympanoplasty. Concurrent ossicular chain reconstruction was performed: partial ossicular replacement prosthesis （PORP） in 83 cases and total ossicular replacement prosthesis （TORP） in 37 cases. Intraoperative disease severity was assessed using the Cholesteatoma Comprehensive Score Scale （CCSS）. Postoperative follow-up lasted at least one year and included pure-tone audiometry, otoscopic examination, and the ZCMEI-21 scale administered at ≥1 year post-surgery. Preoperative and postoperative air-bone gap （ABG） and ZCMEI-21 scores were compared between the MECwTS and MECw/oTS groups. Additionally, surgical efficacy was defined as a postoperative ABG ≤20 dB; the hearing improvement efficacy of PORP versus TORP was compared based on this criterion. Results: ①Preoperative ABG showed no significant difference between the MECw/oTS and MECwTS groups（P>0.05）. Postoperative ABG was （18.65±10.21） dB in the MECw/oTS group versus （22.55±9.53） dB in the MECwTS group, demonstrating a statistically significant intergroup difference （P<0.05）. ②Intraoperative CCSS scores were significantly higher in the MECwTS group （8.04±2.18） compared to the MECw/oTS group （5.93±1.44） （P<0.05）. ③Preoperative ZCMEI-21 scores showed no significant difference between groups （P>0.05）. Postoperative ZCMEI-21 scores were （22.24±8.11） in the MECw/oTS group versus （27.02±7.21） in the MECwTS group, indicating a statistically significant difference （P<0.05）. ④Postoperative ABG ≤20 dB was achieved in 54 patients （65.06%, 54/83） in the PORP group and 16 patients （43.24%, 16/37） in the TORP group. This difference in efficacy rates was statistically significant （P<0.05）. The overall efficacy rate for ossiculoplasty was 58.33% （70/120）. Conclusion: Patients with MECwTS exhibit more severe middle ear and mastoid pathology compared to those with MECw/oTS, resulting in poorer postoperative hearing levels and quality of life outcomes. Both PORP and TORP implantation can improve postoperative hearing to some extent; however, PORP appears to offer superior hearing improvement efficacy compared to TORP.
Humans ; Cholesteatoma, Middle Ear/complications* ; Retrospective Studies ; Tympanoplasty ; Myringosclerosis/surgery* ; Female ; Male ; Adult ; Middle Aged ; Ossicular Replacement ; Ossicular Prosthesis ; Young Adult ; Ear, Middle ; Treatment Outcome ; Mastoidectomy ; Audiometry, Pure-Tone ; Adolescent ; Quality of Life

Objective: To investigate the correlation of functional connectivity (FC) and the integrity of connective fibres between hippocampus and thalamus in Alzheimer′s disease(AD) and amnestic mild cognitive impairment (aMCI). Methods: Both resting-state functional magnetic resonance imaging (rs-fMRI) and diffusion tensor imaging (DTI) data of 40 AD patients, 37 aMCI patients and 41 normal control subjects matching with age and educational level were collected. These subjects were all recruited from outpatient Department of Neurology in the Second Medical Center of Chinese PLA General Hospital, as well as poster, from May 2016 to January 2018. The FC strength between bilateral hippocampus and thalamus, as well as the parameters representing integrity of connective fibres, including fractional anisotropy (FA) and mean diffusivity(MD),were analyzed. Also, the correlations between FC strength and FA or MD strength were analyzed in the study. Results: Compared to that of normal control subjects, the FC strength between billateral hippocampus and thalamus in patients with AD, aMCI were not significantly different(P>0.05). The integrity of bilateral connective fibres between hippocampus and thalamus were damaged in AD patients when compared to normal control subjects(P<0.01). A positive correlation of connective fibres integrity with FC strength between hippocampus and thalamus was found in the left side(r=0.25,P<0.05) but rather in the right side. Conclusion In AD and aMCI patients, structural connectivity between left hippocampus and thalamus affects the functional connectivity between them.

Objective To study the relationship between the expression of sonic hedgehog (Shh) and vascular endothelial growth factor (VEGF) in hypoxic human retinal pigment epithelial (hRPE) cells.Methods Cultured hRPE-19 cells (3rd-6th generations) were used in this experiment.hRPE-19 cells were divided into three groups including the control group,the hypoxia experimental group (100 μmol/L CoCl2) and the inhibition group (pretreatment with 20 μmol/L cyclopamine 1 hour before hypoxia).After culturing for 4,8,12 and 24 hours,the mRNA level of Shh and VEGF genes in these cells were measured by fluorescence quantitative polymerase chain reaction,and the protein level of Shh and VEGF in the supematants were measure by enzymelinked immunosorbent assay.The relationship between the expression of Shh and VEGF was analyzed by Pearson correlation analysis.Results The control group expressed low levels of Shh and VEGF mRNA/protein.The expression of Shh and VEGF mRNA/protein in the hypoxia experimental group was significantly higher than that in the control group (F=178.364,183.732,77.456,91.572;P＜0.01).The expression of Shh and VEGF mRNA in the inhibition group was significantly lower than that in the hypoxia experimental group (F=68.745,121.834;P＜0.01).In the hypoxia experimental group,the expression of VEGF protein was positively correlated with the expression of Shh protein (r=0.942,P＜ 0.05);and the expression of VEGF and Shh mRNA was positively correlated (r=0.970,P＜0.01).However,there was no significant correlation in the expression of VEGF and Shh mRNA in the inhibition group (r=0.915,P＞ 0.05).Conclusion There is a positive correlation between the expression of Shh and VEGF in hypoxic hRPE cells.

Objective To investigate the role of sonic hedgehog (Shh) signal transduction pathway in the expression of vascular endothelial growth factor (VEGF) under hypoxia in cultured human retinal pigment epithelial (hRPE) cells.Methods ARPE-19 were cultured and divided into normal ARPE-19 (Cont) and hypoxia group (100 μmol/L CoCl2 Cobalt Chloride +-ARPE-19);hypoxia group was further divided into CoCl2 group,cyclopamine group (CYA) and dimethyl sulfoxide (DMSO) group.20 μmol/L cyclopamine was added to the CYA group 1 hour before hypoxia,1‰ DMSO was added into DMSO group at the same time.The hRPE cells were cultured under hypoxia for 4,8,12,24 hours.The expression of Shh and VEGF were determined by Real-time fluorescent quantitate PCR (RT-PCR).The amount of VEGF in the hRPE-conditioned supernatant was measured using enzyme linked immunosorbent assay (ELISA) at 4,8,12,24 hours,respectively.Results RT-PCR tests showed that the level of Shh and VEGF of hRPE was time dependently increased (Shh:F=45.260,P=0.001;VEGF:F=264.938,P=0.001).The level of Shh and VEGF of hRPE in the group treated with cyclopamine was decreased (P＜0.01).ELISA tests showed that the amount of VEGF in hRPE supernatant was significantly increased in time-dependent manner (F =3 156.676,P =0.001),and it was down-regulated by cyclopamine under hypoxia (P＜0.01).Conclusion Shh signal transduction pathway could play a role in the VEGF expression induced by hypoxia in hRPE cells.

From August 1996 to October 2004,totally 22 patients(22 eyes) of entire blepharocoloboma after malignant palpebrae superior tumorectomy,admitted to Department of Ophthalmology in the Affiliated Hospital of Binzhou Medical College,were repaired with sclera transplantation for the eyelid reconstruction.The alcohol-preserved scleral allograft was utilized for a substitute of tarsal plate.The internal surface of scleral graft was covered with remaining fornical conjunctiva and the external surface with musculus orbicularis oculi and skin.Bilateral sutures were fixed on the stump of tarsal plate or exterior and interior external palpebral ligament.Then eyelid margin was sutured and cut off after 6 months.All patient were followed up after operation for average 28.8 months.No reject reaction was found,catacleisis was fine and external appearance was satisfying.The eyelid reconstruction with scleral allograft is effective to keep eyelid normal function and external appearance.

Objective To explore the effect of endothelin (ET)、nitric oxide (NO) in plasma on retinopathy in the pregnancy-induced hypertension (PIH). Methods The level of ET and NO in plasma of 75 cases of in-patient women with PIH and 20 cases of women with the full terms and normal pregnancy before and after delivery was determined by radioimmunoassay. The retinopathy of the patients with PIH before and after delivery was detected by appointed doctor. The levels of ET and NO in both groups were compared and the relationship between ET and NO in plasma and the retinopathy before and after the delivery was detected. Results The levels of ET [(145.00?54.41) ng/L] in serious PIH patients were much higher than that in the control [(81.50?43.80) ng/L], the minor [(85.30?33.33) ng/L] and middling PIH group [(90.20?39.25) ng/L]. The levels of ET in plasma before and after pregnancy were not changed in PIH patients [(118.70?33.44) ng/L], but were higher than that in the control group. The levels of plasma NO in serious [(87.56?35.58) ng/L] and middling [(78.11?28.96) ng/L] PIH group were both higher than that in the control group [(46.70?32.64) ng/L], and the levels in minor[(52.56?28.35) ng/L] and middling PIH group were lower than that in the serious PIH group. The level of NO in plasma of PIH patients after the delivery was much lower than that before the delivery, while higher than that in the control. The positive correlation between levels of ET and NO and retinopathy was found in PIH patients. Conclusions The levels of plasma ET and NO in PIH patients are related to the extent of the disease, and the level of ET in plasma is highly related to the retinopathy in PIH patients. ET and NO might be played an important role in pathogenesis of retinopathy and ET might be a good index in reflecting the rank of retinopathy in PIH.