Background: Hearing loss (HL) is one of the most common sensory disorders, affecting over 5-8% of the world's population. Approximately half of HL cases are attributed to genetic factors. In hereditary deafness, about 75-80% is inherited through autosomal recessive inheritance, and common pathogenic genes include GJB2 and SLC26A4. Pathogenic variants in the SLC26A4gene are the leading cause of hereditary hearing loss in humans, second only to the GJB2 gene. Variants in the SLC26A4gene cause hearing loss, which can be non-syndromic autosomal recessive deafness (DFNB4, OMIM #600791) associated with enlarged vestibular aqueduct (EVA) or Pendred syndrome (Pendred, OMIM #605646). DFNB4 is characterized by sensorineural hearing loss combined with EVA or less common cochlear malformation defect. Pendred syndrome is characterized by bilateral sensorineural hearing loss with EVA and an iodine defect that can lead to thyroid goiter. Currently, it is known that EVA is associated with variants in the SLC26A4 gene and is a penetrant feature of SLC26A4-related HL. Predominant mutations in these genes differ significantly across populations. For instance, predominant SLC26A4 mutations differ among populations, including p.T416P and c.1001G>A in Caucasians, p.H723R in Japanese and Koreans, and c.919-2A>G in Han Taiwanese and Han Chinese. On the other hand, there has been no study of hearing loss related to SLC26A4 gene variants among Mongolians, which is the basis of our research. Aim: We aimed to identify the characteristics of the SLC26A4 gene variants in Mongolian people with Enlarged vestibular aqueduct and Mondini malformation. Materials and Methods: In 2022-2024, We included 13 people with hearing loss and enlarged vestibular aqueduct, incomplete cochlea (1.5 turns of the cochlea with cystic apex- incomplete partition type II- Mondini malformation) were examined by CT scan of the temporal bone in our study. WES (Whole exome sequencing) analysis was performed in the Genetics genetic-laboratory of the National Taiwan University Hospital. Results: Genetic analysis revealed 26 confirmed pathogenic variants of bi-allelic SLC26A4 gene of 8 different types in 13 cases, and c.919-2A>G variant was dominant with 46% (12/26) in allele frequency, and c.2027T>A (p.L676Q) variant 19% (5/26), c.1318A>T(p.K440X) variant 11% (3/26), c.1229C>T (p.T410M) variant 8% (2/26) ) , c.716T>A (p.V239D), c.281C>T (p.T94I), c.1546dupC, and c.1975G>C (p.V659L) variants were each 4% (1/26)- revealed. Two male children, 11 years old (SLC26A4: c.919-2A>G) and 7 years old (SLC26A4: c.919-2A>G:, SLC26A4: c.2027T>A (p.L676Q))had history of born normal hearing and progressive hearing loss. Conclusions 1. 26 variants of bi-allelic SLC26A4 gene mutation were detected in Mongolian people with EVA and Mondini malformation, and c.919-2A>G was the most dominant allele variant, and rare variants such as c.1546dupC, c.716T>A (p.V239D) were detected. 2. Our study shows that whole-exome sequencing (WES) can identify gene mutations that are not detected by polymerase chain reaction (PCR) or NGS analysis.

Background: When the incidence of the chronic shoulder pain syndrome is increasing year by year, it is necessary to determine the effects of pain relief, recovery of joint disability, and impact on quality of life through clinical trial research when calculating the results of Turem treatment, which is one of the main methods of traditional medical treatment. Aim: To study the effects of traditional medicine chiropractic on pain relief, mobility improvement, joint function recovery, and quality of life in chronic shoulder pain syndrome. Materials and Methods: The study was conducted using a single-blind, randomized controlled clinical trial (RCT) design. In the study, 60 clients were randomly selected from people suffering from of the shoulder joint pain, and group 1 received Turem treatment together with physical therapy, and group 2 received physical therapy. The results of the study were evaluated by shoulder pain (VAS score), muscle strength, range of motion of the shoulder joint with a goniometer, and the Disability of Arms, Shoulders, and Paws Questionnaire (DASH). The research was conducted in accordance with the appropriate ethical approvals (No. 2024/3-05), (No. 2024-18) and confirmed by an informed consent form. Clinical trial research results were processed using T-test, Independent T-test, repeated ANOWA test. Results: The average age of the participants in the study was 56.13±7.13 years in the treatment group and 53.87±8.05 years in the control group, and 55% were male and 45% female. When shoulder joint pain was evaluated by VAS assessment, the values before and after treatment and after 1 month of treatment in the turem treatment group and the control group decreased statistically significantly (p=0.000). There was a statistical difference between the results of the 2 study groups. When assessing muscle strength, no statistically significant difference was observed between the results of the turem treatment and control groups. When measuring the amplitude of the shoulder joint in the subjects, the amplitude of shoulder extension, abduction, external rotation, and inward rotation increased after the treatment, and compared to the two groups, the index of the turem treatment group increased with statistical significance (p=0.000). When assessed by the Hand, Shoulder, and Hand Dysfunction Questionnaire (DASH), the score of the questionnaire decreased significantly (p=0.000) before, after, and after 1 month of treatment in the turem treatment group and the control group. Turem treatment has been shown to reduce the rate of shoulder disability and improve function in chronic shoulder pain syndrome. Conclusion: Turem treatment for chronic shoulder pain syndrome can reduce shoulder pain, increase joint range, and improve muscle strength. Also, turem treatment reduced the rate of shoulder disability and improved function. Conclusion Turem treatment for chronic shoulder pain syndrome can reduce shoulder pain, increase joint range, and improve muscle strength. Also, turem treatment reduced the rate of shoulder disability and improved function.

<b>Objectiveb> To observe the effect of Huoxin pill （concentrated pill） combined with Baduanjin on the prognosis of patients with acute myocardial infarction complicated by percutaneous coronary intervention （PCI）. <b>Methodsb> 120 patients with acute myocardial infarction complicated with heart failure who received emergency interventional treatment in our hospital from January 2022 to January 2023 were randomly divided into western medicine treatment group and Traditional Chinese Medicine （TCM）comprehensive treatment group. Western medicine treatment: standard western medicine treatment + five prescriptions for cardiac rehabilitation; based on western medicine treatment, Huoxin pill （concentrated pill） combined with Baduanjin therapy was added to the TCM comprehensive treatment group, and the follow-up was 6 months. The observed indexes were exertion angina pectoris scale, Chinese Medicine Syndrome Scale, Chinese medicine syndrome treatment effect evaluation, 6-minute walking test （6MWT）, left ventricular ejection fraction （LVEF）, and brain natriuretic peptide precursor （pro-BNP）. <b>Resultsb> Sixty patients were enrolled in the two groups respectively. During the treatment, 2 cases fell off in the western medicine treatment group and 8 cases fell off in the TCM comprehensive treatment group, and a total of 110 cases were enrolled in the group. Compared with the western treatment group, TCM combined therapy significantly improved angina pectoris scale score, TCM Syndrome Scale score, pro-BNP, LVEF and 6MWT （P<0.001）. There were no significant differences in blood routine, liver and kidney function, potassium, blood glucose, blood lipids and cardiac Troponin I （cTnI） between the two groups （P>0.05）. No adverse cardiovascular events occurred during the entire treatment period in both groups. <b>Conclusionb> Huoxin pill （concentrated pill） combined with Baduanjin was more effective than western therapy in improving LVEF, 6MWT distance, exercise tolerance and cardiac function in patients with acute myocardial infarction complicated with heart failure.

[摘 要] 目的：探讨多结节非小细胞肺癌（NSCLC）组织中的驱动基因突变情况与临床病理特征的关系，为多结节NSCLC患者治疗提供分子诊断依据。方法：本研究共纳入2018年1月至2023年10月间云南省肿瘤医院分子诊断中心检测的121例多结节NSCLC患者的253个肺结节肿瘤组织标本，以第二代测序（NGS）技术或扩增阻滞突变系统PCR（ARMS-PCR）技术检测多结节NSCLC 组织中驱动基因突变情况，分析其与患者临床病理特征的关系，比较不同结节间肺癌驱动基因的突变异质性。结果：与非“宣威”NSCLC相比，“宣威”多结节NSCLC患者驱动基因突变具有显著的地域特点，表现在“宣威”患者具有较低（20%）的EGFR敏感突变（L858R、19-del）及较高（27.26%）的EGFR少见突变（主要为G719/S768I、G719）；“宣威”多结节NSCLC患者的KRAS突变率（27.27%）亦显著高于非“宣威”患者突变率（12.59%）（P<0.05）。此外，“宣威”多结节NSCLC患者驱动基因突变不一致率高达69.23%，远高于非“宣威”患者驱动基因突变不一致率（55.07%）（P<0.05）。结论：“宣威”多结节NSCLC患者具有较高的EGFR少见突变及KRAS突变率，同一患者不同病灶之间存在更高的驱动基因突变异质性，本研究将为“宣威”多结节NSCLC的诊疗策略提供更多的选择。

[摘 要] 目的：研究2型固有淋巴样细胞（ILC2）和髓源性抑制细胞（MDSC）及其相关细胞因子IL-13和诱导型一氧化氮合酶（iNOS）在宫颈癌（CC）中的表达，并基于其构建CC发病风险的列线图预测模型。方法：采集2022年5月至2024年1月在新疆医科大学第一附属医院手术切除的40例CC组织及100例外周血作为CC组，选取同期收治的30例子宫肌瘤经CC筛查为阴性的宫颈组织和100例正常健康个体外周血作为对照组。用多重免疫荧光技术（mIF）及免疫组化染色（IHC）法检测两组组织中ILC2和MDSC细胞浸润及其相关细胞因IL-13和iNOS的表达；使用流式细胞术和ELISA技术分别检测两组外周血中ILC2和MDSC及IL-13和iNOS的表达差异；通过Person相关性分析评估其相关性；使用单因素和多因素Logistic分析来确定ILC2和MDSC及IL-13和iNOS是否为CC发病的独立危险因素，再利用R软件建立免疫预测模型，使用ROC曲线下面积（AUC值）、Hosmer-Lemeshow检验、校准曲线、临床决策曲线和临床影响曲线来分别评估模型。结果：CC组中ILC2及MDSC及其相关细胞因子IL-13和iNOS均高于对照组（均P < 0.05），且其均呈正相关（均P < 0.05）；经过单因素及多因素Logistic回归分析显示，ILC2、MDSC及IL-13、iNOS均是CC发病的独立危险因素（均P < 0.05）；基于这些危险因素的CC发病列线图，经过验证提示，该列线图模型具有一定的临床实用价值。结论：ILC2和MDSC及其相关的细胞因子IL-13和iNOS在CC组织及外周血中均呈高表达，基于这些危险因素构建的预测模型具有良好的预测能力和一定的实用性，为CC的早期诊断和治疗提供了一种简便有效的辅助工具。

[摘 要] 目的：探讨补肾健脾方（BSJP）介导法尼醇X受体（FXR）抑制肝癌细胞AH-130诱导的癌性恶病质（CC）大鼠模型的作用及其机制。方法：腹腔注射AH-130细胞建立肝癌CC大鼠模型，实验分为空白对照组、模型对照组、FXR激动剂（CDCA）组、BSJP组和BSJP + CDCA组。建模后，用CDCA、BSJP连续治疗大鼠16 d，每周称量大鼠体质量。实验结束时开腹，取腹主动脉血、粪便及附睾、腹股沟和肩胛区棕色脂肪质量。采用液相色谱-质谱法（LC-MS）检测大鼠血清和粪便中胆汁酸组分及含量，WB、qPCR法检测大鼠空肠、棕色及白色脂肪组织中FXR、Wnt家族成员10b（Wnt10b）、β-连环蛋白（β-catenin）、解偶联蛋白1（UCP-1）的表达。结果：与空白对照组相比，模型对照组大鼠体质量明显降低（P < 0.01）；与模型对照组相比，CDCA、BSJP、BSJP + CDCA组大鼠体质量均增加（均P < 0.01）。与空白对照组相比，模型对照组附睾、腹股沟和肩胛区域及总棕色脂肪质量均上升（均P < 0.05）；与模型对照组相比，各治疗组大鼠附睾、腹股沟区、棕色脂肪质量均下降（均P < 0.05），而肩胛区棕色脂肪组织质量下降无差异（P > 0.05）；各治疗组总棕色脂肪质量均显著下降（P < 0.05或P < 0.01）。LC-MS分析显示，各组大鼠血清及粪便中胆汁酸组成及含量均发生改变。qPCR、WB法结果证实，与模型组相比，BSJP和BSJP + CDCA可促进大鼠回肠、棕色脂肪及白色脂肪组织中FXR mRNA和蛋白表达升高（均P < 0.05），Wnt10b、β-catenin、UCP-1 mRNA和蛋白表达均下降（均P < 0.05）。结论：BSJP能够抑制肝癌AH-130细胞诱导的大鼠CC，并减轻由此引起的体质量下降和棕色脂肪组织的形成，其机制可能涉及调控FXR并通过抑制棕色脂肪中与Wnt通路相关的Wnt10b、β-catenin和UCP-1的表达来实现。

[摘 要] 目的：探究SOX9通过上调长链非编码RNA LINC01503的表达对喉鳞状细胞癌（LSCC）细胞的增殖、迁移、侵袭及肿瘤干细胞干性的影响。方法： 常规培养人LSCC细胞AMC-HN-8、TU177、TU212和TU686，用转染试剂将敲减序列及其对照核酸（si-SOX9-NC、si-SOX9#1、 si-SOX9#2、si-LINC01503-NC、si-LINC01503#1、si-LINC01503#2）或过表达质粒及其对照核酸（pcDNA3.1-SOX-NC、pcDNA3.1-SOX-oe、pcDNA3.1-LIN01503-NC和pcDNA3.1-LIN01503-oe）分别转染至TU177细胞或TU686细胞，记为si-SOX9-NC组、si-SOX9#1组、si-SOX9#2组、si-LINC01503-NC组、si-LINC01503#1组、si-LINC01503#2组；pcDNA3.1-SOX9-NC组、pcDNA3.1-SOX9-oe组、pcDNA3.1-LINC01503-NC组、pcDNA3.1-LINC01503-oe组、si-SOX9-NC + pcDNA3.1-LINC01503-NC组和si-SOX9 + pcDNA3.1-LINC01503-oe组。qPCR法检测SOX9 mRNA和LINC01503 在各组细胞中的表达，生物信息学分析SOX9与LINC0503启动子区的结合位点，双萤光素酶报告基因实验和染色质免疫共沉淀实验验证SOX9与LINC01503启动子区是否直接结合，WB法检测SOX9的敲减效率及LINC01503对TU177和TU686细胞干性标志物表达的影响，MTS法检测各组细胞的增殖活力，划痕愈合和Transwell小室实验检测各组细胞的迁移能力，克隆形成实验检测各组细胞的克隆形成能力。结果：SOX9在各种LSCC细胞中呈高表达（均P < 0.05），数据库数据分析显示，在头颈部鳞状细胞癌中，SOX9与LINC01503表达呈正相关（R = 0.12，P = 0.005 9）；SOX9可与LINC01503启动子区直接结合并促进其转录表达（均P < 0.05）；敲减LINC01503可明显抑制TU177细胞的增殖、迁移、侵袭（均P < 0.05），过表达LINC01503明显促进TU686细胞增殖、迁移、侵袭的能力（均P < 0.05），提高TU686细胞克隆形成能力和细胞干性标志物分子CD133、OCT4、SOX2的mRNA和蛋白水平表达（均P < 0.05），敲减LINC01503则均可抑制TU686细胞的克隆形成和细胞干性标志物的表达（均P < 0.05）；敲减SOX9均可明显抑制TU177细胞的增殖、迁移和侵袭能力，降低其干性细胞标志物的表达（均P < 0.05），同时过表达LINC01503则可部分逆转敲减SOX9对TU177细胞恶性生物学行为和干性标志物表达的抑制作用（均P < 0.05）。结论：SOX9和LINC01503在LSCC细胞中呈高表达，SOX9可能通过上调LINC01503表达提高LSCC细胞增殖、转移和侵袭能力和肿瘤干细胞干性。

Objective To investigate the current status of delivery room transitional care management for very/extremely preterm infants in Shenzhen City.Methods A cross-sectional survey was conducted in November 2022,involving 24 tertiary hospitals participating in the Shcnzhen Neonatal Data Network.The survey assessed the implementation of transitional care management in the delivery room,including prenatal preparation,delivery room resuscitation,and post-resuscitation management in the neonatal intensive care unit.Very/extremely preterm infants were divided into four groups based on gestational age:＜26 weeks,26-28+6 weeks,29-30+6 weeks,and 31-31+6 weeks.Descriptive analysis was performed on the results.Results A total of 140 very/extremely preterm infants were included,with 10 cases in the＜26 weeks group,45 cases in the 26-28+6 weeks group,49 cases in the 29-30+6 weeks group,and 36 cases in the 31-31+6 weeks group.Among these infants,99(70.7％)received prenatal counseling,predominantly provided by obstetricians(79.8％).The main personnel involved in resuscitation during delivery were midwives(96.4％)and neonatal resident physicians(62.1％).Delayed cord clamping was performed in 52 cases(37.1％),with an average delay time of(45±17)seconds.Postnatal radiant warmer was used in 137 cases(97.9％)for thermoregulation.Positive pressure ventilation was required in 110 cases(78.6％),with 67 cases(60.9％)using T-piece resuscitators and 42 cases(38.2％)using a blended oxygen device.Blood oxygen saturation was monitored during resuscitation in 119 cases(85.0％).The median time from initiating transitional care measures to closing the incubator door was 87 minutes.Conclusions The implementation of delivery room transitional care management for very/extremely preterm infants in the hospitals participating in the Shenzhen Neonatal Data Network shows varying degrees of deviation from the corresponding expert consensus in China.It is necessary to bridge the gap.through continuous quality improvement and multicenter collaboration to improve the quality of the transitional care management and outcomes in very/extremely preterm infants.[Chinese Journal of Contemporary Pediatrics,2024,26(3):250-257]

[摘 要] 目的：探讨山柰酚诱导人非小细胞肺癌（NSCLC）NCI-H1650细胞发生自噬及其机制。方法：常规培养NCI-H1650细胞，用不同浓度山柰酚处理细胞，用CCK-8法、MTT法以及EdU法检测山柰酚对NCI-H1650细胞增殖能力的影响，用自噬双标记腺病毒mCherry-EGFR-LC3感染实验检测山柰酚对NCI-H1650细胞发生自噬的影响，用WB法检测山柰酚处理后NCI-H1650细胞中自噬相关蛋白及Met/PI3K/Akt/mTOR信号通路相关蛋白的表达，用qPCR法检测山柰酚处理后NCI-H1650细胞中Met mRNA的表达。采用荧光素酶标记A549-luc细胞建立裸鼠移植瘤模型后用山柰酚进行处理，用活体动物成像技术观察移植瘤生长情况，用WB法检测移植瘤组织中自噬相关蛋白以及Met/PI3K/Akt/mTOR信号通路相关蛋白的表达。结果：山柰酚能显著抑制NCI-H1650细胞的增殖能力（P<0.05），山柰酚处理后NCI-H1650细胞内的自噬小体数量明显增加（P<0.05）、自噬标志蛋白LC3B和beclin1表达均明显上调（均P<0.05）、P62表达明显下调（P<0.05），山柰酚可明显抑制NCI-H1650细胞中Met mRNA和蛋白的表达（均P<0.05）、抑制p-PI3K p85、PI3K p85、p-Akt和p-mTOR蛋白表达（均P<0.05）。山柰酚抑制A549细胞裸鼠移植瘤的生长（P<0.05）和影响其体内自噬、Met/PI3K/Akt/mTOR通路相关蛋白的表达（均P<0.05）。结论：山柰酚通过影响Met/PI3K/Akt/mTOR通路诱导NSCLC NCI-H1650细胞发生自噬，进而抑制其增殖能力。

[摘 要] 目的：探究甲基转移酶样蛋白3（METTL3）修饰的RNASEH1-AS1通过BUD13/膜联蛋白A2/ Wnt/β-连环蛋白（BUD13/ANXA2/Wnt/β-catenin）轴调控结直肠癌细胞SW480恶性生物学行为的分子机制。方法：选取2022年6月至2022年11月间在复旦大学附属中山医院厦门医院手术治疗的24例CRC患者，收集患者的CRC组织和对应的癌旁组织，用qPCR法检测其中METTL3、RNASEH1-AS1、BUD13、ANXA2、β-catenin、GSK-3β mRNA的表达，用Pearson法分析CRC组织中RNASEH1-AS1表达分别与METTL3和BUD13表达的相关性。常规培养结直肠癌细胞SW480，分为sh-NC组、sh-RNASEH1-AS1组、NC组、sh-METTL组、si-NC组、si-BUD13组、sh-RNASEH1-AS1+pc-NC组、sh-RNASEH1-AS1+pc-ANXA2组、sh-METTL+pc-NC组、sh-METTL+pc-ASEH1-AS1组，用Lipofectamine® 2000转染试剂将sh-NC、sh-RNASEH1-AS1、sh-NC、sh-METTL、si-NC、si-BUD13、sh-RNASEH1-AS1+pc-NC、sh-RNASEH1-AS1+pc-ANXA2、sh-METTL+pc-NC、sh-METTL+pc-ASEH1-AS1分别转染SW480细胞，用qPCR法检测后SW480细胞中METTL3、RNASEH1-AS1、BUD13、ANXA2的表达，细胞克隆形成实验检测转染后各组SW480细胞的增殖能力，FCM术检测转染后各组SW480细胞的凋亡情况，细胞划痕实验检测转染后各组SW480细胞的迁移能力，WB法检测转染后各组SW480细胞中ANXA2、β-catenin、p-β-catenin、GSK-3β、p-GSK-3β、c-Myc、cyclinD1蛋白表达，RNA免疫沉淀（RIP）法检测RNASEH1-AS1与BUD1、BUD1与ANXA2的靶向关系。结果：数据库CRC数据分析和中国人CRC组织和癌旁组织的qPCR法检测结果均显示，与癌旁组织相比CRC组织中METTL3、RNASEH1-AS1、BUD13、ANXA2、β-catenin、GSK-3β均呈明显高表达（均P<0.01），且RNASEH1-AS1表达与METTL3（r=0.698，P<0.01）、BUD13（r=0.784，P<0.01）的表达呈正相关。在结直肠癌各细胞中METTL3、RNASEH1-AS1、BUD13、ANXA2 mRNA均呈高表达（均P<0.05）；敲减RNASEH1-AS1或METTL3后SW480细胞中RNASEH1-AS1、BUD13、ANXA2表达显著降低（均P<0.05），而过表达RNASEH1-AS1后上述分子表达明显上调（均P<0.05）；敲减RNASEH1-AS1或METTL3可抑制SW480的增殖、迁移和p-β-catenin、p-GSK-3β、c-Myc、cyclinD1蛋白的表达，促进其凋亡（均P<0.05），而过表达RNASEH1-AS1则可促进SW480增殖、迁移和p-β-catenin、p-GSK-3β、c-Myc、cyclinD1蛋白的表达和抑制其凋亡（均P<0.05）；RNASEH1-AS1通过招募BUD13靶向促进ANXA2的表达（均P<0.05）；过表达ANXA2可部分逆转敲减RNASEH1-AS1对SW480细胞的影响（均P<0.05）。结论：METTL3修饰的RNASEH1-AS1通过BUD13/ANXA2/Wnt/β-catenin轴调控SW480细胞的恶性生物学行为。