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 analyze the efficacies of unilateral biportal endoscopy(UBE)and percutaneous endoscopic transforaminal discectomy(PETD)in treatment of lumbar disc herniation(LDH),and to explore the optimal selection of minimally invasive surgical approaches for the The LDH patients.Methods:A retrospective analysis was performed on the clinical data of 64 LDH patients who underwent surgery at Liwan Central Hospital of Guangzhou City in Guangdong Province,between January 2020 and June 2024.The surgical approaches were determined through physician-patient communication,and the patients were divided into UBE group(n=30)and PETD group(n=34).The materials of patients were recorded including gender,age,body mass index(BMI),percentages of affected segments,course of disease,duration of hospitalization,operation duration,intraoperative blood loss,numbers of intraoperative fluoroscopy,total incision length,and time to full weight-bearing(WB).The therapeutic outcomes were evaluated using Oswestry disability index(ODI),Visual Analog Scale(VAS)scores for low back pain and leg pain,MacNab criteria,and spinal canal areas at the affected segment.the postoperative complications of the patients in two groups were analyzed.Results:There were no statistically significant differences in age,gender composition ratio,BMI,course of disease,and percentages of affected segments of the patients between UBE group and PETD group(P＞0.05).Compared with PETD group,the intraoperative blood loss,total incision length,and time to full WB of the patients in UBE group were significantly increase(P＜0.01),while the number of intraoperative fluoroscopy time was decreased(P＜0.01).Compared with pre-operation,the ODI scores and VAS scores for low back and leg pain of the patients at final follow-up in both groups were decreased(P＜0.01),and the spinal canal areas at the affected segments of the patients were increased(P＜0.01).At final follow-up,compared with PETD group,the ODI score and VAS scores for low back and leg pain of patients in UBE group were decreased(P＜0.01),while the spinal canal areas at the affected segments of the patients was increased(P＜0.01).According to MacNab criteria,the percentages of excellent and good had no significant difference between two groups(P＞0.05).The incidence of complication showed no statistical difference between two groups(P＞0.05).Conclusion:Both UBE and PETD yield satisfactory outcomes in the treatment of single-segment LDH.PETD is less invasive and permits earlier time to full WB,whereas UBE provides more extensive decompression and superior long-term efficacy.The surgical approach selection should be individualized based on specific factors in the clinic.

Objective:To explore the effect of breastfeeding intervention scheme based on co-parenting theory on the breastfeeding of primiparas.Methods:The convenient sampling method was adopted to select 67 primiparal and their 67 spouses who underwent prenatal check-ups in the Obstetrics Clinic of Fengtai Maternal & Child Health Hospital in 2019 as the research objects. The 35 primiparas and their 35 spouses whose expected delivery date was from October to November 2019 were set as the control group and 32 primiparas and their 32 spouses whose expected delivery date was from December 2019 to January 2020 were set as the experimental group. The control group was given breastfeeding knowledge education and answers to questions through WeChat groups, while the experimental group received breastfeeding nursing intervention based on co-parenting theory on the basis of the control group. The rate of exclusive breastfeeding, the simplified Chinese version of Breastfeeding Self-Efficacy Scale Short Form (BSES-SF) score, the Brief Coparenting Relationship Scale (Brief CRS) score of primiparas, and the Chinese version of Iowa Infant Feeding Attitude Scale (IIFAS) score of the spouses of primiparas at 6 weeks postpartum were compared between the two groups.Results:The rate of exclusive breastfeeding in the experimental group at 6 weeks postpartum was 87.5% (28/32) , which was higher than 77.1% (27/35) in the control group, but the difference was not statistically significant (χ 2=0.432, P>0.05) . In the experimental group, the score of inner activity dimension of the simplified Chinese version of BSES-SF was (20.78±5.05) , the total score of the Brief CRS was (71.84±8.60) and the total score of the Chinese version of IIFAS among spouses of primiparas was (63.38±7.25) , which were higher than (16.94±4.78) , (67.00±10.94) , (59.89±5.92) of the control group, and the differences were statistically significant ( t=3.196, 2.002, 2.166; P<0.05) . Conclusions:The breastfeeding intervention scheme based on co-parenting theory can improve the attitude of spouses of primiparas to infant feeding and co-parenting perception of primiparas, and the effect of the intervention on improving the rate of exclusive breastfeeding and self-efficacy of breastfeeding needs to be further verified.

Objective To investigate the frequency of JAK2 V617F mutation and JAK2 V617F mutation allele burden in patients with essential thrombocythemia (ET), and explore the relationship between mutation and hematological parameters and coagulation function. Methods The clinical and laboratory parameters of 90 ET patients were analyzed. JAK2 V617F mutation was detected by AS-PCR and the mutation allele burden of JAK2 V617F was detected by qPCR. The correlation between mutation frequency and mutation burden of JAK2 V617F and blood laboratory parameters were investigated in ET. Results JAK2 V617F mutation was found in 50 patients (55.6 %). RBC [(4.67±0.89)×109/L vs (4.04±0.99)×109/L, P =0.003], WBC (11.64±5.20)×109/L vs (9.11±4.11)×109/L, P = 0.014], HCT (0.41±0.07) vs (0.36±0.07), P =0.005) in the JAK2 V617F mutated group were higher than those in the wild-type group. PT in mutated patients was longer than that in wild-type group [(13.18±1.63) s vs (12.02±1.24) s, P = 0.000]. The JAK2 V617F mutation allele burden was (29.91 ±18.63) %. No significant correlation was found between JAK2 V617F mutation allele burden and hematological parameters such as WBC, RBC and Plt (all P>0.05), but the JAK2 V617F mutation allele burden had a significant correlation with FDP (r = 0.456, P = 0.001). Conclusions JAK2 V617F mutation occurs in significant percentage patients with ET. Detection of JAK2 V617F mutation allele burden at diagnosis may play an important role in the early prevention of vascular events.

BACKGROUND:Different structures of matrix models, such as grating, holes and pil ars make different effects on the differentiation of neural stem cel s. OBJECTIVE:To explore the effects of the diameter and spacing, known as physical signals of micro pil ars on neural stem cel differentiation. METHODS:Micro pil ars with different diameters and spacing, both of which had four dimensions of 2.5, 5, 10 and 20μm, were fabricated on silicon substrates by photolithographic method. Purified primary neural stem cel s were incubated on the each micro pil ar for 7 days in vitro. Then the differentiation of neural stem cel s into neuron-like cel s was observed using immunofluorescence staining and quantitative real-time PCR. RESULTS AND CONCLUSION:When the diameters of the micro pil ars were constant and the spacing of micro pil ars varied in the range of 2.5-10μm, the differentiation rate of neural stem cel s increased with the spacing increase. When the spacing was invariable and the diameters changed in the range of 2.5-20μm, the differentiation rate of neural stem cel s declined with the diameter increase. Especial y, the micro pil ars with 2.5μm diameter and 10μm spacing significantly promoted the differentiation of neural stem cel s into neuron-like cel s. These results show that specific micro pil ars with smal diameters and large spacing facilitate the differentiation of neural stem cel s, thus providing guidance for developing tissue-engineered scaffolds.

HBV is a major health problem faced by human beings. The study of the mechanism of HBV infection has been a key point in this field. To carry out the related research on HBV, establishment of simple and available in vivo and in vitro infection models is the trend. Due to the close relationship between tree shrews and human/primates, the tree shrew model of HBV infection has attracted more and more attention. This review summarizes recent research, both at home and abroad, about in vivo and in vitro HBV infection in tree shrews, especially the research progress in in vitro culture of primary hepatocytes of tree shrews, and looks to the future research directions as well.

Objective To explore the clinical features,neuroimaging and histopathological findings in patients with idiopathic hypertrophic cranial pachymeningitis (IHCP) with a nodular space occupying effect.Methods Four IHCP cases with a nodular space occupying effect diagnosed in our hospital were retrospectively studied.Results All the 4 patients were men with a mean onset age of 40.25 (33 ～ 50) years old.They all had long disease duration and relapses.The common symptoms of IHCP were chronic headache,multiple cranial nerve palsies and epileptic seizures.CT and MRI of the brain revealed prominent dural partial thickening,which indicated a mass or nodular space occupying effect that mimicked intracranial tumour-like meningioma.The histopathological findings of dura in 2 cases revealed connective tissue proliferation,scattered neutrophile granulocytes and plasmacytes infiltration.Combination therapy of corticosteroid or/and immunosuppressive drugs was effective for the IHCP patients.Conclusions IHCP patients with a nodular space occupying effect usually onset with chronic headache and are often recurrent.The combination therapy of corticosteroid or/and immunosuppressive drugs is effective.The image of the brain presents prominent dural partial thickening,indicating a mass or nodular space occupying effect,which often lead to confusion with intracranial tumours or granulomatosis.

Objective To explore clinical characteristics and diagnosis of aggressive natural killercell leukemia (ANKL),and evaluate the value of flow cytometry (FCM) in diagnosing it.Methods A case of ANKL was reported and literatures were reviewed.Results The patient presented with persistent high fever,progressive pancytopenia and hepatosplenomegaly.The untypical cells could be seen by morphology.By FCM,NK cells consisted 83.3 ％ of total lymphocytes in bone marrow and immunophenotypes were CD34-,CD2+,CD7+,CD3-,CyCD3+,CD5-,CD16+,CD56+,CD30-,CD4-,CD8-,CD117-,CD11c,CD19-,CD45++,SSC+-++.T-cell receptor (TCR) and IgH gene rearrangement were negative and chromosome was normal.The patient was diagonised ANKL eventually.Conclusions ANKL is a quite rare disease with highly aggressive,poor prognosis and could be misdiagnosed easily.FCM combined with morphology is a convenient,handy,practicable and less invasive device for the diagnosis,and can be a preferred detection technique in some cases.