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 evaluate the clinical effect of intensive treatment of obese patients with type 2 diabetes with Degu asparagus insulin and semaglutide.Methods A total of 92 obese patients with type 2 diabetes who were admitted to Rugao Hospital of Traditional Chinese Medicine from May 2020 to May 2023 were selected and randomly divided into two groups by randomnumber table method,with 46 cases in each group.The treatment group received Degu asparagus insulin and semaglutide,and the control group was treated with semaglutide.Glucose and lipid metabolism indicators(fasting blood glucose,glycated hemoglobin,fructosamine,2-hour postprandial blood glucose,and total cholesterol),blood glucose fluctuations(standard deviation of blood glucose,amplitude of postprandial blood glucose fluctuations,24-hour average blood glucose),insulin resistance index,visceral fat index,antioxidant indicators(malondialdehyde[MDA],lipid peroxide[LPO],superoxide dismutase[SOD],and paraoxonase-1[PON1]),and adverse reactions were observed before and after 4 weeks of treatment.Results After 4 weeks of treatment,the treatment group showed a significant improvement in glucose and lipid metabolism compared to the control group,including decreased fasting blood glucose,glycated hemoglobin,fructosamine,2-hour postprandial blood glucose,and total cholesterol(P<0.05).In addition,the treatment group showed significant reduction in the standard deviation of blood glucose,amplitude of postprandial blood glucose fluctuations,and 24-hour average blood glucose.Insulin resistance and visceral fat index were also significantly decreased in the treatment group(P<0.05).The decreases in MDA and LPO and the increases in SOD and PON1 indicated that the treatment group had better antioxidant capacity(P<0.001).There was no significant difference in the incidence of gastrointestinal adverse reactions,hypoglycemia,or liver damage between the two groups(P>0.05).Conclusion Degu asparagus insulin combined with semaglutide can effectively improve metabolic indicators of obese patients with type 2 diabetes and it provide an effective program for the comprehensive treatment of obese type 2 diabetes.

Pien Tze Huang(PZH),a class-1 nationally protected traditional Chinese medicine(TCM),has been used to treat liver diseases such as hepatitis;however,the effect of PZH on the progression of sepsis is un-known.Here,we reported that PZH attenuated lipopolysaccharide(LPS)-induced sepsis in mice and reduced LPS-induced production of proinflammatory cytokines in macrophages by inhibiting the acti-vation of mitogen-activated protein kinase(MAPK)and nuclear factor-kappa B(NF-κB)signalling.Mechanistically,PZH stimulated signal transducer and activator of transcription 3(STAT3)phosphory-lation to induce the expression of A20,which could inhibit the activation of NF-κB and MAPK signalling.Knockdown of the bile acid(BA)receptor G protein-coupled bile acid receptor 1(TGR5)in macrophages abolished the effects of PZH on STAT3 phosphorylation and A20 induction,as well as the LPS-induced inflammatory response,suggesting that BAs in PZH may mediate its anti-inflammatory effects by acti-vating TGR5.Consistently,deprivation of BAs in PZH by cholestyramine resin reduced the effects of PZH on the expression of phosphorylated-STAT3 and A20,the activation of NF-κB and MAPK signalling,and the production of proinflammatory cytokines,whereas the addition of BAs to cholestyramine resin-treated PZH partially restored the inhibitory effects on the production of proinflammatory cytokines.Overall,our study identifies BAs as the effective components in PZH that activate TGR5-STAT3-A20 signalling to ameliorate LPS-induced sepsis.

The aim of this study is to investigate the effects of Gynostemma pentaphyllum dried with two different methods(air drying and heating) on inflammation in acute lung injury(ALI) mice in vivo and in vitro. Lipopolysaccharide(LPS) was sprayed into the airway of wild type C57BL/6J male mice to establish the model, and the drug was injected into the tail vein 24 h after modeling. Lung function, lung tissue wet/dry weight(W/D) ratio, the total protein concentration, interleukin 6(IL-6), IL-1β, and tumor necrosis factor-α(TNF-α) in the bronchoalveolar lavage fluid(BALF), and pathological changes of the lung tissue were used to evaluate the effects of different gypenosides on ALI mice. The results showed that total gypenosides(YGGPs) and the gypenosides substituted with one or two glycosyl(GPs_(1-2)) in the air-dried sample improved the lung function, significantly lowered the levels of IL-1β and TNF-α in BALF, and alleviated the lung inflammation of ALI mice. Moreover, GPs_(1-2) had a more significant effect on inhibiting NO release in RAW264.7 cells. This study showed that different drying methods affected the anti-inflammatory activity of G. pentaphyllum, and the rare saponins in the air-dried sample without heating had better anti-inflammatory activity.
Male ; Mice ; Animals ; Tumor Necrosis Factor-alpha/metabolism* ; Gynostemma ; Mice, Inbred C57BL ; Lung ; Anti-Inflammatory Agents/metabolism* ; Interleukin-6/metabolism* ; Interleukin-1beta/metabolism* ; Lipopolysaccharides/pharmacology*

OBJECTIVE: To explore the clinical feature, diagnosis and phenotype of Majeed syndrome. METHODS: Clinical manifestation, diagnostic process, imaging feature and genetic testing of an ethnic Han Chinese patient with Majeed syndrome were reviewed. RESULTS: The patient, a 3-year-9-month-old boy, had featured psychomotor retardation and developed bone pain from 8 month on. The child had tenderness of the lower limbs and presented with repeatedly joint swelling and pain accompanied by fever. Physical signs included limb muscle weakening, slightly decreased muscle tone, reduced muscle volume and positive Gower sign. High-throughput sequencing revealed that the child has carried compound heterozygous variants of the LPIN2 gene, including c.1966A>G and c.2534delG. MRI showed multiple lesions in bilateral knee joints and distal middle tibia presenting as patchy SPAIR high signals with unclear edge, in addition with edema of soft tissue surrounding the right distal femur. CONCLUSION Majeed syndrome is characterized by chronic and recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and growth retardation. Surrounding muscle tissue of osteomyelitis may also be involved. The syndrome may also affect the central nervous system, resulting in delayed language and motor development. Discovery of multiple pathological variants of the LPIN2 gene suggested that the clinical phenotype of this syndrome may vary between patients to some extent.
Anemia, Dyserythropoietic, Congenital/genetics* ; Child ; Genetic Testing ; Humans ; Immunologic Deficiency Syndromes/genetics* ; Infant ; Male ; Osteomyelitis/genetics*

The delta-12 fatty acid desaturase (Δ¹² FAD or FAD2) is a key enzyme that catalyzes oleic acid to linoleic acid by dehydrogenation at Δ¹² position of fatty acid carbon chain. In peanut, reduction or loss of FAD2 activity could enhance the relative content of oleic acid in kernels, and improve the quality and oxidation stability of peanut kernels and products. RNA interference (RNAi) technology could lead to non-expression or down-regulated expression of AhFAD2 gene. We constructed two RNA interference expression vectors with the inverted repeat sequence of partial AhFAD2 gene, which were driven separately by cauliflower mosaic virus (CaMV) 35S promoter or soybean agglutinin lectin seed-specific promoter. Homozygous transgenic lines carrying the two constructs stably in genetics were developed by peanut genetic transformation. There were no significant differences between the transgenic lines and the control through investigating the main agronomic traits. We analyzed the transcriptional level expression of AhFAD2 gene in transgenic lines and the control by real-time fluorescence quantitative PCR (qRT-PCR). The results suggested that the target genes of transgenic lines were likely suppressed by RNA interference, but showed different transcriptional levels in different peanut transgenic lines. Compared with untransformed lines, the resulting down-regulation of AhFAD2 gene resulted in a 15.09% or 36.40% increase in oleic acid content in the seeds of transformed HY23 and FH1 lines respectively, and the content of linoleic acid decreased by 16.19% or 29.81%, correspondingly, the ratio of oleic acid and linoleic acid (O/L) improved by 38.02%, 98.10%. The oleic acid content had significant differences between the two transformation constructs, and also among different transgenic lines. Moreover, the inhibition effect of RNAi was more obvious in the transgenic lines with FH1 as the receptor, and with transformation structure driven by seed specific promoter. The suppressed expression of AhFAD2 gene enabled the development of peanut fatty acid, which indicated that RNA interference would be a reliable technique for the genetic modification of peanut seed quality and the potential for improvement of other traits as well.

Objective: To investigate the clinicopathologic features, molecular characteristics and prognosis of spread through air space (STAS) in patients with adenocarcinoma of the lung. Methods: Two hundred and eighty-eight lung adenocarcinoma patients with complete clinicopathologic and follow-up data were included. The patients were divided into STAS positive (178 cases) and negative (110 cases) groups.EGFR and KRAS gene mutations were detected by amplification refractory mutation system (ARMS), and ALK and ROS1 gene fusion were detected by fluorescence in situ hybridization method. The relationship between STAS and clinicopathologic, molecular features, and patient outcome was analyzed. Results: STAS was present in 61.8%(178/288) of lung adenocarcinomas. The positive rate of STAS in tumors >3 cm was significantly higher than that in tumors ≤3 cm (P=0.009), and was significantly higher in tumors with pleural invasion (P<0.01), venous invasion (P<0.01), lymphatic invasion (P<0.01), perineural invasion (P=0.029) and tumors with necrosis (P<0.01). STAS was also correlated with tumor recurrence (P<0.01) and advanced pathologic TNM stage (P=0.002). There was no significant correlation with patients′ gender, age and smoking history. Histologically, STAS was present in 58.0%(91/157), 67.6%(50/74), 2/6, 64.3%(27/42) and 8/9 of acinar, papillary, lepidic, solid and micropapillary adenocarcinomas, respectively. In addition, the positive rates of STAS in tumor with micropapillary (>5%) and without micropapillary pattern were 80.9%(55/68) and 55.9%(123/220), respectively (P<0.01). STAS was significantly higher in EGFR negative group (P=0.034), ALK gene rearrangement group (P=0.003) and ROS1 gene rearrangement group (P=0.012), but there was no significant correlation with KRAS mutation. Univariate survival analysis showed that patients with STAS had a shorter progression-free survival (PFS, P<0.01) and overall survival (P=0.013). Multivariate analysis confirmed that STAS was an independent predictor of PFS in lung adenocarcinoma patients (HR: 2.749, 95%CI: 1.550-4.876, P=0.001). Conclusions The presence of STAS in lung adenocarcinoma suggests high risk of recurrence and invasion and is thus an important prognostic factor. In addition, STAS is associated with EGFR mutation, ALK and ROS1 gene rearrangement.

Objective To explore the distribution and antibiotic resistance of pathogenic bacteria isolated from sputum of patients with acute exacerbation of coexisting chronic obstructive pulmonary disease ( COPD) and bronchiectasis , so as to guide the rational antimi-crobial application in clinical practise .Methods Bacteria culture and drug susceptibility testing were performed for the sputum samples of 98 hospitalized patients with acute exacerbation of coexisting COPD and bronchiectasis from January 2010 to April 2014.Results A total of 66 strains of pathogenic bacteria were isolated in 96 patients, including 52 strains of Gram -negative bacilli(78.8%), 5 strains of Gram-positive cocci (7.6%) and 9 strains of fungi(13.6%).The five predominant Gram -negative bacterial species were P .aerugino-sa(27.3%), Escherichia coli(13.6%), Klebsiella pneumonia (12.1%), Acinetobacter baumannii (10.6%), and Enterobacter cloa-cae(7.6%).The effective antibiotics against Gram -negative bacterial infection in patients with acute exacerbation of coexisting COPD and brochiectasis included carbapenems , cefoperazone/sulbactam, piperacillin/tazobactam and amikacin .All the S.aureus strains in this stuy were sensitive to vancomycin .Conclusion The Gram -negative bacilli are the main pathogens in acute exacerbation of coexisting COPD and brochiectasis , followed by fungi and Gram -positive bacteria .As the problem of bacterial resistance is getting worse , antibiot-ics should be used more rationally according to the distribution of common pathogens and drug resistance trends in the region .

OBJECTIVETo explore breeding method and breed new varieties of Erigeron breviscapus.

METHODSuperior individual were selected from natural outcrossing population of E. breviscapus, lines and strains were established and selected and compared.

RESULTThe scutellarin contents of two E. breviscapus strains of 2003-15 and 2003-6 through line breeding were 3.21% and 3.01%, respectively, and increased 15.77% and 23.46% comparing with the control strain (QS-1), respectively, the yield increased 20.37% and 17.59%, scutellarin yield per hectare enhanced 39.31% and 44.82%.

CONCLUSIONNew varieties of E. breviscapus can be bred through lines breeding.

OBJECTIVE: To determine the effect of gamma-aminobutyric acid(GABA) on proliferation and malignant phenotypes of hepatocellular carcinoma cell line HepG-2. METHODS: HepG-2 cells were cultured by routine method, and then treated with different concentrations of GABA. The proliferation of HepG-2 cells was measured through MTT, doubling time and cell cycles by flow cytometry. The malignant phenotypes were investigated by soft agar colony formation assay. RESULTS: Compared with the control group, GABA efficiently stimulated the proliferation of HepG-2 cells in a dose-dependent manner and affected the distribution of cell cycles of HepG-2 cells. The doubling time of the control group and the GABA-treated group were 39.0, 30.6, 30.0, 27.3, 26.6, and 38.2 h, respectively. The colony formation rates were 3.2%, 4.2%, 5.4%, 6.6%,6.5%, and 3.5%, respectively. Tumorigenicity testing showed that the average weights of tumor was 1.382 g, and 0.285 g for the 2 groups. The difference between the control group and the GABA-treated groups was significant (P<0.01). CONCLUSION GABA can enhance the proliferation and malignant phenotypes of HepG-2 cells.
Animals ; Cell Cycle ; drug effects ; Cell Proliferation ; drug effects ; Dose-Response Relationship, Drug ; Hep G2 Cells ; Humans ; Mice ; Mice, Inbred BALB C ; Mice, Nude ; Neoplasm Transplantation ; Phenotype ; gamma-Aminobutyric Acid ; pharmacology