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 summarize and discuss the characteristics of endoscopic approach to manage the middle ear cholesteatoma, and to evaluate the operative safety and outcomes based on the data from the multicenter study. Methods: The data of 242 cases diagnosed with the middle ear cholesteatoma and received operation through endoscopic approach between June 2016 and June 2017 in six tertiary hospitals in China were analyzed in this work. There were 130 males and 112 females, with the age ranging from 3 to 72 years old. We evaluated the strategy about how to manage the cholesteatoma, discussed the detailed techniques about how to remove the cholesteatoma and to improve the efficiency under endoscopic visualization. Meanwhile, the recurrence rate and residual rate of cholesteatoma as well as the complications in endoscopic approach were summarized. Results: A total of 158 cases were operated in exclusively endoscopic transcanal approach, 72 cases operated in combined approach, and 12 cases operated majorly under microscope and minorly under endoscope. 219 cases were operated in one stage surgery, 23 cases received second look. In the second look, 3 cases were detected with residual cholesteatomas. Among them, 2 cases were found by MRI-DWI examination after the first-stage operation. With endoscopic examination after operation, 17 cases showed retracted pocket recurrence (7%,17/242). With introduction of endoscope in cholesteatoma, 153 cases were achieved canal wall-up operation (63%, 153/242). The complications in endoscopic approach included chord tympani never injury in 27 cases, skin injury of ear canal in 11 cases, tinnitus in 13 cases, vertigo in 7 cases, external ear canal stenosis in 1 case. Conclusions Using otoendoscope in cholesteatoma surgery would help keeping the normal structures of middle ear as much as possible, benefit to remove the hiding pathologies, help reducing residual cholesteatoma and lowering the rate of canal wall-down operation as well. This study showed good safety of otoendoscopic cholesteatoma surgery, however, strict evaluation of indication and quite good surgical techniques and skills are necessary for avoiding unexpected complication.

Objective: To analyze the safety of endoscopic stapes surgery, and to compare the results with stapes surgery under microscopic approach. Methods: This was a retrospective study. One hundred and thirty seven patients from Eye Ear Nose and Throat Hospital of Fudan University and other seven hospitals were enrolled in this study. Eighty eight patients, in whom 29 were male, and 59 were female, aged from 29 to 66 years old, with an average of 40.1±10.7, underwent endoscopic stapedotomy and 49 patients, in whom 17 were male, and 33 were female, aged from 32 to 64 yeas old, with an arerage of 38.7±9.2, underwent microscopic stapedotomy for otosclerosis. Interventions included endoscopic and microscopic stapes surgeries. Main outcome measures consisted of operating time, preoperative and postoperative hearing, intraoperative findings, and postoperative complications. SPSS 16.0 software was used to analyzed the date (t test and χ² test) . Results: Patients in the group who underwent endoscopic stapes surgery showed a mean operative time of (74.1±26.0) min. Patients in the group treated by microscopic approach had a mean operative time (66.5±15.9) min. Statistical difference was evident (t=1.279, P<0.05) . The average operative time of endoscopic surgery became shorter as the cases increased. The average duration of the last 10 cases was shorter than that of the first 10 cases in both groups. The differences were significant (t value was 3.028, 3.610, both P<0.05). No statistical difference was found in air conduction threshold improvement (t=1.074, P=0.289) , air-bone gap closure (t=-0.135, P=0.893) and bone conduction improvement (t=1.222, P=0.228) between the two groups. No difference regarding the incidence of the postoperative complications (chorda tympanum damage: 6 cases vs 2 cases, χ²=0.08,P>0.05; vertigo:18 cases vs 9 cases,χ²=0.09, P>0.05; facial paralysis: 0 case vs 0 case) between the two groups was found. Conclusion Audiological outcomes achieved by endoscopic surgery are similar to the results obtained through a microscopic approach. Endoscopic stapes surgery is safe.

A child was diagnosed as congenital hyperinsulinism (CHI) in Henan Province People's Hospital in Oct 2015.Here we report the clinical features and genetic testing result of this CHI child .The clinical manifestation of this child is episodic convulsions .She has long been misdiagnosed as the status epilepticus .During a seizure,the blood tests showed that blood glucose 1.1 mmol/L,insulin 10.47 mU/L and C-P 0.88 μg/L .A heterozygous mutation in ABCC8 gene c .4607 C ＞ T (p .A1536V) was identified in the child but not in her parents .There was no hypoglycemic episode after the dietary intervention .CHI is mainly characterized by hypoglycaemic convulsions and is easily misdiagnosed .Mutations of ABCC8 might be a main cause of CHI .

OBJECTIVETo analyze CYP21A2 gene mutation in two families with 21-hydroxylase deficiency (21-OHD) and to explore the correlation between genotype and clinical phenotype.

METHODSTwo patients with 21-OHD and their families were investigated. CYP21A2 gene mutation was analyzed by PCR and direct sequencing.

RESULTSThe probands from family 1 and 2 have been respectively diagnosed with simple virilizing and non-classical 21-OHD. Both showed increased baseline serum 17hydroxyprogesterone, testosterone and adrenocorticotropic hormone (ACTH), but had no evidence of salt loss. Computer tomography revealed bilateral adrenal hyperplasia in both patients. After 1 year treatment, both had conceived successfully. DNA sequencing revealed that the proband of family 1 had compound heterozygous mutations for IVS2 13 A>G and Ile172Asn. Her father was heterozygous for Ile172Asn, whilst her mother and brother were heterozygous for IVS213A/C>G. In family 2, the proband was heterozygous for Arg341Trp and Gln318X. Her father, sister and nephew were heterozygous for Arg341Trp, whilst her mother was heterozygous for Gln318X. her brother and niece were non-affected. Carriers of single heterozygous mutations in both families had no clinical sign.

CONCLUSIONIn both families, the disease has been caused by compound heterozygous mutations, for which there has been a good genotype-phenotype agreement. Screening of CYP21A2 gene can facilitate both diagnosis and genetic counseling.

Adrenal Hyperplasia, Congenital ; blood ; enzymology ; genetics ; Adrenocorticotropic Hormone ; blood ; Adult ; Base Sequence ; Child ; Female ; Genotype ; Humans ; Male ; Molecular Sequence Data ; Mutation, Missense ; Pedigree ; Phenotype ; Steroid 21-Hydroxylase ; genetics ; metabolism ; Testosterone ; blood ; Young Adult

The clinical and genetic data were retrospectively analyzed in a pedigree with pseudohypoparathyroidism type Ⅰ a.Clinically typical Albright hereditary osteodystrophy (AHO),hypocalcemia,hyperphosphatemia,and PTH- and TSH-resistance were manifested in the proband,but not in his brother and parents.The proband's symptom of epilepsy was alleviated by treatment with calcium and vitamin D,which was of no avail in regard to AHO.After GNAS1 genes were sequenced and compared with the GenBank data among the family members,a deletion of c.1107_1108 ( p.Glu370ArgfsX11 ) in exon l3 of GNAS1 gene leading to a frameshift mutation was found in the proband and his mother.It suggested that the GNAS1 gene mutation might be related to the pathogenesis of the disease.

ObjectiveTo evaluate the impact of iFlow in the auxiliary diagnosis of cerebral vascular diseases.Methods Totally 65 patients with cerebral vascular diseases underwent whole brain 2D DSA.Then the data were converted to color coded images with iFlow.The vascular anatomy,the shape and size of lesions,the blood dynamics on 2D DSA and iFlow images were evaluated by junior and senior physicians,who then reported whether iFlow images had supplementary diagnosis value.ResultsiFlow images displayed whole information of lesions more clearly than those of 2D DSA in brain vascular dynamic sequence,including vascular anatomy,hemodynamic changes and tissues perfusions.The evaluation of 2D DSA and iFlow images with junior and senior physicians had statistical difference (x2 =6.032,P=0.014).ConclusionCompared to single DSA,iFlow can facilitate the diagnosis and evaluation of cerebral vascular diseases,especially for junior physicians.

Forty five patients with acute cerebral infarction were randomized to two groups: in treatment group patients received local subhypothermia and conventional therapy, in control group patients received conventional therapy only. Clinical outcome was assessed by the National Institutes of Health Stroke Scale (NIHSS) on admission and at 7, 14 and 30 d after treatment. Serum neuron specific enolase (NSE), nitrogen monoxide ( NO ) , superoxide dismutase (SOD), interleukin-6 (IL-6 ) and intercellular adhesion molecule-1 (ICAM-1) were detected on admission and at 7,14 d after treatment The study showed that NIHSS scores of treatment group on 14, 30 d were lower than those of control group ( P ＜ 0. 05 ). Serum NSE, NO, IL-6 and ICAM-1 levels significantly decrease; while serum SOD levels increased (P ＜ 0. 05). In conclusion, local subhypothermia therapy can inhibit inflammatory reaction, reduce oxygen free radical formation and improve neurological function in patients with acute cerebral infarction.

The concentration of serum adiponectin [(2.51±1.42)mg/L] was lower in the group of patients with type 2 diabetes mellitus as compared with that in normal controlgroup [(5.26±0.78)mg/L ,P＜0.01]. The concentration of serum adiponectin was lower in the diabetics with macrovascular complications (MVC) [(1.38±0.77)mg/L] as compared with those without macrovascular complication [(3.66±0.91)mg/L]. The concentration of serum resistin was higher in the diabetic group as compared with that in control group[(7.07±1.11 vs 6.09±0.47)μg/L, P＜0.01]. It was also higher in patients with MVC [(7.96±0.65)μg/L] compared with those without MVC [(6.10±0.43)μgL, P＜0.01].

Objective To evaluate the value of MR angiography in thrombolytic therapy of acute ischemic stroke. Methods According to inclusion criteria, 65 patients who also having large vessel occlusion were selected, and they were performed rt-PA treatment (38 patients) and routine treatment (27 patients) within 3-6 hours of onset of symptoms, respectively. Mann-Whitney U test and chi square test were performed to compare the clinical and MR imaging baseline index and the clinical outcome between the two groups respectively. Clinical outcome was assessed after 3 months using a dichotomized modified Rankin scale score.Data were also compared with the combined analysis of the ATLANTIS, ECASS, NINDS rt-PA trials. Resets The difference of clinical outcome in 3 months between the two groups was significant (P < 0. 05) and the median of the two group was 1 and 3, respectively. The ratio of favorable outcome (mRS 0-1) in the two groups was 52. 6% (20/38) and 33.3% (9/27), respectively. Conclusion MR angiography plays an important role in thrombolytic therapy of acute ischemic stroke and it should be used to consummate the conventional inclusion criteria, the patients with large vessel occlusion should be treated by rt-PA.