简介：摘要目的研究头颈部鳞癌(HNSCC)的自噬基因调控及生物标志物FK506结合蛋白1A(FKBP1A)在HNSCC中的表达及影响。方法利用肿瘤基因组图谱(TCGA)分析HNSCC组织与正常黏膜组织的基因表达差异；利用DAVID生物信息学资源库进行HNSCC中差异明显的自噬相关基因功能注释与富集的研究，利用单因素与多因素COX回归分析寻找对于TCGA中HNSCC患者预后有意义的基因；利用基因表达综合数据库(GEO)验证目的基因与HNSCC患者的预后，利用Kaplan-Meier Plotter分析自噬相关基因与HNSCC患者预后相关性；利用免疫组化实验及实时荧光定量PCR检测对比临床HNSCC组织样本与癌旁样本中FKBP1A的表达量。结果相比于正常组织，HNSCC组织共有38个自噬相关基因(其中28个上调，10个下调)发生显著的变化。这些差异基因主要参与人体中生物过程(BP)，细胞成分(CC)和分子功能(MF)部分中的自噬相关通路。单因素与多因素Cox回归分析发现有18个自噬相关基因在TCGA数据库中与HNSCC患者的预后相关。将其中的高风险基因在GEO数据库中进行验证，发现FKBP1A与HNSCC患者预后紧密相关，免疫组化与实时荧光定量PCR显示FKBP1A在HNSCC患者中的表达高于对应的癌旁组织，且与HNSCC的分期紧密相关。结论本研究综合多种生物信息学手段，揭示了参与HNSCC发生发展的自噬相关基因的作用，筛选出与HNSCC患者预后紧密相关的生物分子标志物FKBP1A，为HNSCC的发病机制及潜在治疗靶点发现提供理论依据。

简介：摘要目的探讨兰尼碱(RYR2)、FK506结合蛋白12.6(FKBP12.6)及钙调蛋白依赖性蛋白激酶Ⅱ(CaMK-Ⅱ)在COPD患者肺组织中的表达及意义。方法回顾性分析2012年11月至2017年4月宁夏回族自治区人民医院心胸外科肺癌手术后患者30例，根据入院肺功能、超声心动图检查结果，将患者分为3组：慢性阻塞性肺疾病(COPD)合并肺动脉高压(PH)组、COPD组、非COPD且非PH患者对照组，取手术切除后距癌变区>5 cm的组织。测量3组肺血管组织石蜡切片中肺小动脉面积。用免疫组织化学法分别观察RYR2、FKBP12.6及CaMK-Ⅱ表达，并做相关性分析。结果(1)与对照组比较，COPD合并PH组、COPD组平滑肌面积占血管总面积百分比(WA%)、肺动脉收缩压(PASP)均增高(F＝24.115、9.421，P值均<0.05)，COPD合并PH组WA%和PASP高于COPD组。(2)与对照组比较，COPD合并PH组、COPD组RYR2、FKBP12.6及CaMK-Ⅱ的表达IOD均增高(F＝9.219、6.143、11.337，P值均<0.05)，COPD合并PH组RYR2、FKBP12.6及CaMK-Ⅱ的表达IOD高于COPD组。(3)相关性分析提示COPD合并PH组、COPD组RYR2的IOD值与WA%呈正相关(r＝0.547、0.771，P值均<0.01)，COPD合并PH组RYR2的IOD值与PASP呈正相关(r＝0.773，P<0.01)。COPD合并PH组、COPD组FKBP12.6的IOD值与WA%呈正相关(r＝0.796、0.810，P值均<0.01)，COPD合并PH组FKBP12.6的IOD值与PASP呈正相关(r＝0.729，P<0.01)。COPD合并PH组、COPD组CaMK-Ⅱ的IOD值与WA%呈正相关(r＝0.879、0.504，P值均<0.01)，COPD合并PH组CaMK-Ⅱ的IOD值与PASP呈正相关(r＝0.748，P<0.01)。结论FKBP12.6和CaMK-Ⅱ可能在COPD相关的肺动脉增殖中起一定作用。

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简介：摘要目的总结西藏高原地区断指再植手术的临床效果。方法2018年8月至2019年8月，于拉萨市人民医院急诊对12例15指断指患者进行了再植手术，其中机器轧伤4例，钢丝绳勒伤3例，电锯伤4例，旋转撕脱伤1例。术后常规抗生素、抗凝、解痉治疗，同时进行吸氧、保暖、禁烟和禁咖啡因等处理。术后定期随访。结果本组有12指完全成活，3指坏死，再植指成活率为80%（12/15）。术后随访4~16个月，按中华医学会手外科学分会断肢（指）再植功能评定标准，优3指，良7指，中1指，差4指，优良率66.6%(10/15)。结论高原地区断指再植难度较高，经过尽量多吻合血管、先吻合动脉缩短总缺血时间、术后吸氧和保持室温等处理，可以获得较高的成活率。

简介：AbstractBackground:Long non-coding RNAs (lncRNAs) play key roles in human cancers. In our previous study, we demonstrated that lncRNA FKBP prolyl isomerase 9 pseudogene 1 (FKBP9P1) was highly expressed in head and neck squamous cell cancer (HNSCC) tissues. However, its functional significance remains poorly understood. In the present study, we identify the role and potential molecular biologic mechanisms of FKBP9P1 in HNSCC.Methods:Quantitative real-time polymerase chain reaction was used to detect the expression of FKBP9P1 in HNSCC tissues, matched adjacent normal tissues, human HNSCC cells (FaDu, Cal-27, SCC4, and SCC9), and human immortalized keratinocytes cell HaCaT (normal control). Cal-27 and SCC9 cells were transfected with sh-FKBP9P1-1, sh-FKBP9P1-2, and normal control (sh-NC) lentivirus. Cell counting kit-8 assay, colony formation assay, wound healing assay, and trans-well assay were used to explore the biologic function of FKBP9P1 in HNSCC cells. Furthermore, western blotting was used to determine the mechanism of FKBP9P1 in HNSCC progression. Chi-squared test was performed to assess the clinical significance among FKBP9P1 high-expression and low-expression groups. Survival analyses were performed using the Kaplan-Meier method and assessed using the log-rank test. The comparison between two groups was analyzed by Student t test, and comparisons among multiple samples were performed by one-way analysis of variance and a Bonferroni post hoc test.Results:FKBP9P1 expression was significantly up-regulated in HNSCC tissues (tumor vs. normal, 1.914 vs. 0.957, t = 7.746, P < 0.001) and cell lines (P < 0.01 in all HNSCC cell lines). Besides, the median FKBP9P1 expression of HNSCC tissues (1.677) was considered as the threshold. High FKBP9P1 level was correlated with advanced T stage (P = 0.022), advanced N stage (P = 0.036), advanced clinical stage (P = 0.018), and poor prognosis of HNSCC patients (overall survival, P = 0.002 and disease-free survival, P < 0.001). Knockdown of FKBP9P1 led to marked repression in proliferation, migration, and invasion of HNSCC cells in vitro (P all < 0.01). Mechanistically, silencing FKBP9P1 was observed to restrain the PI3K/AKT signaling pathway.Conclusions:Silencing lncRNA FKBP9P1 represses HNSCC progression and inhibits PI3K/AKT (phosphatidylinositol 3 kinase/AKT Serine/Threonine Kinase) signaling in vitro. Therefore, FKBP9P1 could be a potential new target for the diagnosis and treatment of HNSCC patients.

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简介：摘要目的：构建3～12岁儿童静态屈光度与主要屈光参数间的回归模型。方法：横断面研究。研究分两部分：①建立回归模型：随机选取2014年7月至2016年6月于长沙爱尔眼科医院进行屈光检查的245例儿童，测量其眼轴长度（AL）、角膜曲率（Km）及前房深度（ACD），行睫状肌麻痹检影验光并计算晶状体屈光力（LP）。分析静态屈光度（SE）与屈光参数的相关性并建立回归模型。②验证回归模型：另随机选取2016年7—12月于长沙爱尔眼科医院进行屈光检查的43例儿童，测量上述屈光参数，行睫状肌麻痹检影验光（SE实测），计算LP和静态屈光度（SE估算），通过Bland-Altman分析比较SE实测与SE估算的一致性。结果：①建立回归模型：SE与AL、Km及LP的相关系数分别是-0.95、-0.83和-0.62（均P<0.001）；其回归模型为SE=110.56-2.51×AL-0.97×Km-0.44×LP（R2=0.95，F=2534.52，P<0.001）。②验证回归模型：SE实测与SE估算存在明显相关性（r=0.97，P<0.001），95%一致性界限范围为-1.00～0.63 D，平均误差为-0.19 D（95%可信区间：-0.28～-0.10 D），81.40%的点落在临床可接受范围内（-0.55～0.55 D）。结论：AL是屈光度的最主要影响因素，其次是角膜曲率和晶状体屈光力；屈光度回归模型可较准确估算3～12岁儿童的静态屈光度。

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简介：AbstractImportance:Cochlear implantation (CI) is an effective therapy for patients with severe to profound sensorineural hearing loss. It remains controversial whether children younger than 12 months of age should undergo CI.Objective:To evaluate the safety and effectiveness of CI in children younger than 12 months of age.Methods:We performed a retrospective study of clinical data of pediatric patients younger than 12 months of age who underwent CI and were followed up for 1 to 2 years. Patients’ developmental levels were evaluated by the Gesell score before CI. Intraoperative and postoperative complications were recorded to evaluate the safety of CI. Auditory and speech abilities were scored by the LittlEARS® auditory questionnaire (LEAQ), categories of auditory performance (CAP), speech intelligibility rating (SIR), infant-toddler meaningful auditory integration scale (IT-MAIS), and meaningful use of speech scale (MUSS) at 1, 2, 3, 6, 9, and 12 months after CI. The associations between clinical characteristics before CI and postoperative scores at 1 year after CI were analyzed by the linear mixed-effects model.Results:Eighty-nine children (47 boys and 42 girls) were included in this study (mean age at CI, 9.2 ± 1.6 months). Sixteen patients were diagnosed with cochlear malformation and 16 underwent bilateral CI. No severe complications occurred in any patients. The mean developmental quotient of the Gesell score was 78.00 ± 10.03. The median LEAQ scores were 0, 5, 10, 16, 22, 26 and 30 before and at 1, 2, 3, 6, 9, and 12 months after CI, respectively. These findings implied that the LEAQ score greatly improved in the first year after CI. The overall CAP, SIR, IT-MAIS, and MUSS scores also increased with increasing duration after CI. No significant associations were detected between clinical characteristics (age, sex, implant number, pre-CI Gesell score, and inner ear malformation) and LEAQ outcomes at 12 months after CI.Interpretation:With increasing duration after CI, auditory and speech behavior dramatically improve in young children. Our findings indicate that CI is feasible for children younger than 12 months of age.

简介：AbstractIntroduction:Congenital ichthyosiform erythroderma (CIE) is characterized by fine, whitish scales on a background of erythematous skin over the whole body; it is reportedly caused by mutations in ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, NIPAL4, PNPLA1, and TGM1 genes.Case presentation:A 15-month-old girl presented with CIE associated with compound heterozygous ABCA12 mutations, a known missense mutation c.4139A>G (p.Asn1380Ser) from her father, and a novel missense mutation c.4300A>G (p.Thr1434Ala) from her mother.Conclusion:This is the first report to indicate that compound heterozygous missense mutations in the first ATP-binding cassette of ABCA12 could contribute to the onset of CIE.

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简介：【摘要】：目的：研究慢性脓胸病人采用胸膜纤维剥除术治疗的疗效及对缩短术后胸腔引流管置管时间和住院时间的意义。方法：纳入慢性脓胸病人 24例为研究对象，病人就诊时间 2018年 11月至 2019年 11月。 开胸组（12例）实施开胸手术治疗 ，胸膜纤维剥除术组（12例）实施胸膜纤维剥除术治疗 。观察开胸组和胸膜纤维剥除术组术后胸腔引流管置管时间、平均住院时间。结果：术后，胸膜纤维剥除术组 术后胸腔引流管置管时间（8.12±1.04） d，平均住院时间（ 12.37±1.35） d，均明显短于开胸组的（ 11.69±1.34） d、（ 16.24±1.14） d，差异有统计学意义（ p<0.05）。结论：相比开胸手术治疗而言，慢性脓胸病人采用胸膜纤维剥除术治疗的疗效更好。

简介：摘要目的探讨腮腺区面神经鞘瘤的临床特点和诊治方法。方法回顾分析2009年1月至2019年1月在河南省肿瘤医院收治的12例腮腺区面神经鞘瘤患者的临床资料，其中男5例，女7例，年龄23~72岁。12例患者均以腮腺区肿块为主诉就诊，其中4例患者有局部不适和疼痛感，6例患者在触诊时有不同程度的疼痛感。超声检查8例表现为腮腺区实性肿块，4例表现为混合性肿块。分析总结治疗方式、肿瘤与面神经的关系以及手术前后面神经功能情况[House-Brackmann(H-B)分级]。结果12例患者均接受了手术治疗：8例行肿瘤及部分或全部腮腺浅叶切除术，1例行肿瘤及全腮腺切除术；3例仅行肿瘤切除，其中1例患者因肿瘤扩展到颅底不能完全切除。9例患者肿瘤发生于面神经的主干或主要分支，切除肿瘤后面神经完整；1例肿瘤发生于面神经终末支，术中部分粘连严重小分支被切断；1例复发二次手术患者，术中未发现面神经总干且找不到神经断端，故未行神经移植；1例由于术中无法将面神经的主干与肿瘤分开，神经切断后同时行神经移植术。术前面神经功能H-B Ⅰ级10例，Ⅱ级1例，Ⅴ级1例。术后随访1年复查面神经功能H-B Ⅰ级7例，Ⅱ级2例，Ⅲ级1例，Ⅳ级1例为神经移植患者，Ⅴ级1例为复发二次手术患者术后维持原状。结论腮腺区面神经鞘瘤临床少见，术前不易诊断，治疗以手术为主，术中应注意保护面神经。

简介：摘要目的探讨甲基丙二酸血症(methylmalonic acidemia，MMA)cblA型患儿的临床特点、基因变异类型及治疗效果。方法分析12例cblA型MMA患儿的临床表现，治疗方案及预后，对先证者及其父母进行MMAA基因的变异分析。结果MMA cblA型患儿主要表现为呕吐、气促和嗜睡。维生素B12治疗对11例(91.7%)患儿有效。治疗后患儿血丙酰肉碱、丙酰肉碱与乙酰肉碱比值、尿甲基丙二酸及甲基枸橼酸水平均显著降低，差异有统计学意义(均P < 0.05)。8例患儿生长发育正常(66.7%)，4例智力运动发育落后(33.3%)。检测到14种MMAA基因变异，包括6种新变异：c.54delA(p.A19Hfs*43)、c.275G>A(p.G92V)、c.456delT(p.G153Vfs*8)、c.667dupA(p.T223Nfs*4)、c.1114C>T(p.Q372X)和c.1137_1138delCA(p.F379Lfs*27)。最常见的变异为c.365T>C(p.L122P)(29.2%)。结论cblA型MMA患儿主要表现为呕吐、气促和嗜睡，大部分患儿为维生素B12治疗有效型。c.365T>C为中国MMAA基因的常见变异。

简介：摘要目的观察不同氧分压对大鼠肾上腺髓质嗜铬瘤(pheochromocytoma, PC12)细胞生存的影响，探讨可能的机制。方法PC12细胞长满培养瓶底70%～80%时随机分为0.1 MPa组、0.2 MPa组和0.4 MPa组，分别置于实验舱中，0.1 MPa组常压下呼吸纯氧，另2组升压速度0.03 MPa/min，稳压在相应压力下予纯氧1 h。用四甲基偶氮唑[3-(4, 5-dimethylthiazol-2yl)-2, 5-diphenyl tetrazolium bromide，MTT]比色法测定细胞存活率、培养液中乳酸脱氢酶(L-lactate dehydrogenase，LDH)水平，流式细胞仪检测细胞内活性氧(reactive oxygen species，ROS)及线粒体膜电位(mitochondrial membrane potential，MMP)。结果(1)0.2 MPa组较0.1 MPa组细胞存活率升高[(118.35±5.42 )%vs. (100.38±5.08)%)，差异具有统计学意义(P<0.01)，而0.4 MPa组的细胞存活率[(83.50±7.11)%]较0.1 MPa组及0.2 MPa组降低，差异有统计学意义(P<0.01)。(2)0.4 MPa组内的LDH水平(1 071.67±35.36)明显增加，与0.1 MPa组(959.19±34.06)和0.2 MPa组(966.66±31.38)比较，差异均具有统计学意义(P<0.01)。(3)ROS水平随着压力的增加而上升，0.1 MPa组(97.48±6.08)和0.2 MPa组(112.48±3.14)、0.1 MPa组和0.4 MPa组(148.62±4.79)、0.2 MPa组与0.4 MPa组的ROS水平差异均具有统计学意义(P<0.01)。(4)Rh123的荧光强度与MMP负相关，3组分别为(797.63±60.05)、(798.20±58.54)、(1 362.32±40.68)，0.2 MPa组的MMP与0.1 MPa组相比，差异无统计学意义(P＝0.79)，0.4 MPa组的MMP较0.1 MPa组及0.2 MPa组降低，差异有统计学意义(P<0.01)。结论适当的氧分压增加PC12细胞的存活率，过高的氧分压对细胞产生毒性作用，产生过量ROS，引起MMP降低可能是机制之一。

简介：AbstractBackground:Pulmonary deportation of hydatidiform mole is an exceedingly rare entity. The underlying mechanisms and proper management strategies remain unclear based on sporadic case reports over the past six decades. This study aimed to investigate the clinical features and rational treatment of patients with benign molar pregnancies with pulmonary deportation based on our experience.Methods:Medical records of 20 cases of hydatidiform mole with pulmonary deportation were retrospectively reviewed at Peking Union Medical College Hospital from November 2006 to May 2019. The detailed information of all patients was recorded and analyzed. Patients were divided into different groups according to their characteristics and Mann-Whitney U test was used to compare the duration to achieve a normal β-human chorionic gonadotrophin (β-hCG) level after the first evacuation among groups.Results:Initial pulmonary computed tomography scans showed suspected bilateral, left and right chest deportation of hydatidiform mole in 12, four, and four patients, respectively, with the maximum nodular diameter ranging from 0.6 to 1.2 cm. Ten patients achieved lesion resolution while the remaining ten patients achieved decreases in the size of their pulmonary lesions. The median duration to achieve a normal β-hCG level after the first evacuation was 15.5 (13.0, 21.9) weeks. There was no significant difference in the duration to achieve a normal β-hCG level after the first evacuation between two groups based on age (≥40 years vs. < 40 years: 15.8 [12.2, 21.5] weeks vs. 15.5 [12.9, 23.0] weeks, Z = 0.094, P = 0.925), type of antecedent mole (partial mole vs. complete mole: 15.2 [12.5, 27.4] weeks vs. 15.9 [12.9, 21.5] weeks, Z = 0.165, P = 0.869), distribution of pulmonary nodules (bilateral lungs vs. unilateral lung: 15.2 [12.8, 22.5] weeks vs. 15.9 [13.2, 22.2] weeks, Z = 0.386, P = 0.700), maximum size of pulmonary nodules (>0.5 cm vs. ≤0.5 cm: 13.0 [11.3, 17.2] weeks vs. 16.0 [14.5, 23.8] weeks, Z = 1.815, P = 0.070), and number of uterine evacuations (once vs. twice or three times: 15.0 [13.0, 16.3] weeks vs. 16.0 [12.8, 23.9] weeks, Z = 0.832, P = 0.405). The post-molar cohort was followed up for 17 to 139 months, and no gestational trophoblastic neoplasia was observed.Conclusions:No surgeries other than uterine evacuation and no chemotherapy regimens are recommended for such patients if they achieve satisfactory decreases in the level of hCG and gradual decrease or disappearance of pulmonary deportation nodules. Patients should be informed about the necessity of long-term follow-up. More collaborative international studies on this exceedingly rare condition may guide decisions regarding optimal management strategies.