支气管肺泡灌洗液MGMT基因甲基化检测在非小细胞肺癌诊断中的价值

目的 探讨支气管肺泡灌洗液(BALF)中MGMT基因启动子甲基化水平对于非小细胞肺癌的诊断价值。方法 选取完成胸部手术患者98例为研究对象,经病理确诊非小细胞肺癌患者63例组成试验组,经病理确认为良性病变患者35例为对照组,分别获取试验组及对照组成员血清标本、BALF标本及活组织标本,对不同类型标本中MGMT基因启动子甲基化水平做检测。结果 非小细胞肺癌患者肺癌组织中、BALF中、血清中MGMT基因甲基化发生率分别为58.7%、52.4%和27%;肺癌组织的MGMT基因甲基化率与BALF 中MGMT基因的甲基化率有较好的一致性,其与血清标本中MGMT基因的甲基化一致性较差,其判断肿瘤良恶性的敏感度低于BALF标本;35例肺良性病变对照组的肺组织标本、BALF及血清标本,均未检测到MGMT基因甲基化表达,其甲基化率为0。结论 BALF中MGMT基因甲基化检测在非小细胞肺癌的筛查诊断中具有一定的临床应用价值。     

张家口市变态反应性皮肤病患者过敏原临床结果分析

目的分析张家口市常见变态反应性皮肤病患者过敏原种类及分布概况。方法选择2012年10月-2015年8月我院皮肤科诊断变态反应性皮肤病患者580例,使用德国Mediwise公司生产的Alleryscreen系统,采用免疫印迹实验检测患者血清总IgE、变应原特异性IgE水平,以血清总IgE100 IU/ml,或者以血清变应原特异性IgE水平0.35 IU/ml为阳性,统计分析吸入性、食物性变应原阳性率。结果入组变态反应性皮肤病患者580例,急/慢性荨麻疹297例,湿疹皮炎189例,过敏性紫癜94例,其中检出存在过敏原患者312例,检出率53.79%。男性157例(50.32%),女性155例(49.68%),性别比例差异无统计学意义(P0.05)。急/慢性荨麻疹过敏原阳性率55.21%,常见过敏原为户尘螨、粉尘螨、狗/猫毛皮屑;湿疹皮炎过敏原阳性率55.03%,常见过敏原为狗/猫毛皮屑、牛奶、牛羊肉;过敏性紫癜过敏原阳性率46.81%,常见过敏原为狗/猫毛皮屑、户尘螨/粉尘螨、牛羊肉。吸入性过敏原阳性123例,食物性过敏原阳性34例,重叠阳性者155例。吸入性过敏原前四位分别为户尘螨/粉尘螨(25.00%)、狗/猫毛皮屑(20.51%)、蟑螂(10.26%)、矮豚草/蒿(8.02%)。食物性过敏原前四位分别是牛奶(11.86%)、鱼虾蟹(8.97%)、羊肉(6.41%)、鸡蛋(4.81%)。对一类过敏原反应阳性113例,对两类以上过敏原反应阳性199例。结论张家口地区常见的过敏原为户尘螨/粉尘螨、狗/猫毛皮屑、牛奶及蟑螂等,其中吸入性过敏原阳性率高于食物性过敏原;过敏原阳性患者以吸入与食物性重叠存在较为多见,以多种、多组变应原阳性较为常见。     

肺癌患者与正常人血、尿中氨基酸谱的对比研究

目的 了解肺癌患者体内氨基酸代谢特点,更合理地给予营养支持治疗。方法 采用习立835—50型氨基酸自动分析仪,检测30例肺癌患者及30例正常人血浆、尿液中游离氨基酸的含量。结果 肺癌患者血浆中芳香族氨基酸总量、苯丙氨酸、酪氨酸、蛋氨酸、半胱氨酸含量升高,支链氨基酸总量、异亮氨酸、亮氨酸、缬氨酸、精氨酸、苏氨酸含量降低,与正常人相比差异均有显著性（P〈0．05）;肺癌患者尿液中芳香族氨基酸总量、苯丙氨酸、酪氨酸、赖氨酸含量升高,亮氨酸含量降低,与正常人相比差异均有显著性（P〈0．05）。结论 肺癌患者“不平衡氨基酸疗法”应以大量补充精氨酸和适量补充支链氨基酸为主。     

LINC00178 promotes cell growth,migration, and invasion in colorectal cancer in vitro and in vivo

BackgroundThis study aimed to determine the role of LINC00178 in colorectal cancer (CRC) cell invasion and migration by examining its expression in CRC cells and tissues.MethodsCancer tissues and corresponding adjacent tissue specimens were collected from 45 patients who experienced radical CRC resection in the hospital from March to September 2021. The expression of LINC00178 was measured in both CRC cells and tissues and normal human colorectal mucosal cells using quantitative fluorescence polymerase chain reaction (QF-PCR). Cell Counting Kit-8 (CCK-8), clonogenic, and transwell assays were used to assess the impact of LINC00178 overexpression or knockdown on the CRC cells invasion and proliferation. In addition, the expression levels of vimentin, E-cadherin, and N-cadherin in CRC cells were determined after either LINC00178 knockdown or overexpression was performed using western blotting.ResultsThe experiments revealed that LINC00178 was over expressed in CRC cells and tissues. Over-expression of LINC00178 could significantly promote the propagation, clone formation, invasion, and transportation of CRC, whereas knockdown of LINC00178 had the opposite function. When LINC00178 was expressed at high levels, it suppressed the vimentin and N-cadherin expression and prevented the upregulation of E-cadherin. In vivo (nude mouse) studies showed that the over expression of LINC00178 could significantly promote the propagation in CRC cells.ConclusionsLINC00178 is overexpressed in CRC cells and tissues. In vivo and in vitro experiments showed that LINC00178 can significantly promote the propagation of CRC cells, so it may develop a potential biological site for targeted therapy of CRC patients.     

De novo triplication at 1p36.23p36.22 further refines the dosage sensitive region of overlap in Setleis syndrome (focal facial dermal dysplasia type III)

Setleis syndrome (SS), or focal facial dermal dysplasia type III (FFDD3, MIM #227260), is an autosomal recessive condition caused by biallelic loss-of-function variants in TWIST2. It is characterized by bitemporal atrophic skin lesions and distinctive facial features. Individuals with de novo or inherited duplication or triplication of the chromosomal region 1p36.22p36.21 have also been reported to have the SS phenotype with additional neurodevelopmental challenges (rarely seen in individuals with TWIST2 mutations) and variable expressivity and penetrance. Triplication of this region is also associated with more severe manifestations compared to a duplication. We report a 2-year-old female patient with features of SS associated with a de novo 3.603 Mb triplication at 1p36.23p36.22 identified on postnatal microarray analysis. Her triplication shares a 281.263 kb overlap with gains at 1p36.22, reported by previous groups, delineating the shortest region of overlap (SRO) to date. This SRO involves 10 RefSeq and 4 OMIM morbid map genes and highlights the candidate dosage-sensitive element(s) underlying the cardinal features of SS phenotype in individuals with gains at 1p36.     

Puerarin from Pueraria lobate attenuates ischemia-induced cardiac injuries and inflammation in vitro and in vivo: The key role of miR-130a-5p/HMGB2 pathway

Acute myocardial infarction (AMI) is a common cardiovascular disease and puerarin (Pue) is an active compound from Pueraria lobate with cardio-protective potential. In the current study, the mechanism underlying the cardio-protective effects of Pue was explored by focusing miR-130a-5p/HMGB2 pathway. MiR expression profile was determined and myocardial infarction was induced in cardiomyocytes and rats, which was treated with Pue. The role of miR-130a-5p and downstream HMGB2/NF-κB axis in the cardio-protective effects of Pue was also explored. Pue increased viability and suppressed inflammation in OGD cardiomyocytes, which was associated with the deactivation of HMGB2/NF-κB pathway. After the suppression of miR-130a-5p, the cardio-protective effects of Pue were compromised. In rat models, Pue attenuated structure deterioration and inflammatory response in heart. At the molecular level, miR-130a-5p was up-regulated, and HMGB2 were down-regulated. It was demonstrated that Pue induced the expression of miR-130a-5p, which suppressed the activity of HMGB2/NF-κB, contributing to the attenuation of infarct heart tissues.     

The distribution and accumulation of the shortest telomeres in telomere biology disorders

Individuals with telomere biology disorders (TBDs) have very short telomeres, high risk of bone marrow failure (BMF), and reduced survival. Using data from TBD patients, a mean leukocyte Southern blot telomere length (TL) of 5 kilobases (kb) was estimated as the ‘telomere brink’ at which human survival is markedly reduced. However, the shortest telomere, not the mean TL, signals replicative senescence. We used the Telomere Shortest Length Assay (TeSLA) to tally TL of all 46 chromosomes in blood-derived DNA and examined its relationship with TBDs. Patients (n = 18) had much shorter mean TL (TeSmTL) (2.54 ± 0.41 kb vs. 4.48 ± 0.52 kb, p < 0.0001) and more telomeres <3 kb than controls (n = 22) (70.43 ± 8.76% vs. 33.05 ± 6.93%, p < 0.0001). The proportion of ultrashort telomeres (<1.6 kb) was also higher in patients than controls (39.29 ± 10.69% vs. 10.40 ± 4.09%, p < 0.0001). TeS <1.6 kb was associated with severe (n = 11) compared with non-severe (n = 7) BMF (p = 0.027). Patients with multi-organ manifestations (n = 10) had more telomeres <1.6 kb than those with one affected organ system (n = 8) (p = 0.029). Findings suggest that TBD clinical manifestations are associated with a disproportionately higher number of haematopoietic cell telomeres reaching a telomere brink, whose length at the single telomere level is yet to be determined.