顺产与剖宫产产妇初乳中抗感染因子浓度的比较

比较顺产与剖宫产产妇初乳中抗感染因子含量的差异。方法采用免疫比浊法测定顺产组及剖宫产组产妇分娩后４８、９６ｈ共１１４份初乳中ＳＩｇＡ、ＩｇＭ、补充Ｃ３、Ｃ４浓度。结论产后４８ｈ,剖宫产组初乳中抗感染因子的浓度明显高于顺产组。     

FTY720对体外培养MCF-7细胞增殖及凋亡影响的研究

目的探讨FTY720对体外培养MCF-7细胞增殖及凋亡的影响。方法体外培养MCF-7细胞,将其培养液中加入不同浓度的FTY720,继续培养48小时,MTT法检测MCF-7细胞的增殖情况;瑞士-姬姆萨染色观察细胞形态变化;流式细胞仪检测FTY720对MCF-7细胞的细胞周期、凋亡率的影响。结果当FTY720浓度为6 400 ng/ml时,体外培养MCF-7细胞的增殖受到明显抑制,抑制率为62.0%（P〈0.05）,而且抑制率呈浓度依赖性;镜下可见细胞出现凋亡的形态;流式细胞仪检测分析显示FTY720可将MCF-7细胞阻滞于G1期,并促进其发生凋亡,凋亡率呈浓度依赖性。结论在体外培养的MCF-7细胞培养液中加入一定浓度的FTY720,能明显抑制该细胞的增殖,调节该细胞周期并诱导其凋亡。     

海尔福对氟中毒小鼠粪氟、骨氟的影响

用氟化钠做实验性氟中毒小鼠模型，然后灌服海尔福口服液１５天，检测粪氟排出量和骨氟排出量的变化。结果表明，服药组服药前粪便含氟量为３４７．２μｇ／ｇ，服药后为５１１．９μｇ／ｇ（ｘ），前后比较Ｐ＜０．０００１，差异有高度显著性；中毒对照组和正常对照组粪便含氟量分别为３８５．５和２０．０μｇ／ｇ（ｘ），两组比较Ｐ＜０．０００９，差异有高度显著性。正常对照组③、中毒对照组①和服药组②骨氟含量分别为２．５７、３５．１９、３３．１３μｇ／ｇ（ｘ），①与③、②与③比较Ｐ＜０．００１，差异有高度显著性，而①与②比较Ｐ＞０．０５，差异无显著性。提示海尔福口服液作用机理之一有可能是通过抑制氟中毒动物对氟的吸收而起治疗作用，而对骨氟的影响尚无明显。     

五年制医学专业生物化学PBL教学实践与初探

目的激发学生的学习兴趣与参与意识，培养高素质的医学人才。方法将学生分成若干小组，每小组10人，在1名教师指导下进行三段式PBL教学。结果学生由被动变为主动，学习的积极性提高了，综合分析问题和解决问题的能力、口头表达能力与交际能力提高了，同学之间的协作关系加强了。结论PBL教学比单纯灌输的教学效果要好。不过，进行PBL教学时要选好年级、选好班级、选好教师。     

维吾尔族宫颈鳞癌C/EBP β基因甲基化与HPV16感染关系

目的 通过对新疆维吾尔族妇女宫颈鳞癌组织C/EBP β基因甲基化与HPV16感染关系的研究,探讨该基因在宫颈癌发生发展过程中的作用.方法 提取26份子宫颈癌组织和16份子宫颈正常组织DNA,用PCR方法对样本进行HPV16检测,再利用基质辅助激光解析电离飞行时间质谱方法进行C/EBP β基因甲基化分析.结果 子宫颈鳞癌组织HPV16感染率为69.32％ (18/26),2份正常子宫颈组织感染HPV16,差异有统计学意义(x2=12.780,P＜0.05);子宫颈鳞癌与子宫颈正常组织中C/EBP β基因CpG10/11和CpG17/18 2个CpG岛甲基化差异有统计学意义(t =2.221、2.278,P均＜0.05);C/EBP β基因在以上2个CpG岛位点上的甲基化率与HPV16感染偏相关系数分别为1.323和-4.36,差异无统计学意义(P＞0.05).结论 新疆维吾尔族妇女宫颈鳞癌发生与HPV16感染相关; C/EBP β基因2个CpG岛位点甲基化与维吾尔族子宫颈鳞癌发生相关,而与HPV16感染无相关性.     

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders

PurposeMissense variants clustering in the BTB domain region of RHOBTB2 cause a developmental and epileptic encephalopathy with early-onset seizures and severe intellectual disability.MethodsBy international collaboration, we assembled individuals with pathogenic RHOBTB2 variants and a variable spectrum of neurodevelopmental disorders. By western blotting, we investigated the consequences of missense variants in vitro.ResultsIn accordance with previous observations, de novo heterozygous missense variants in the BTB domain region led to a severe developmental and epileptic encephalopathy in 16 individuals. Now, we also identified de novo missense variants in the GTPase domain in 6 individuals with apparently more variable neurodevelopmental phenotypes with or without epilepsy. In contrast to variants in the BTB domain region, variants in the GTPase domain do not impair proteasomal degradation of RHOBTB2 in vitro, indicating different functional consequences. Furthermore, we observed biallelic splice-site and truncating variants in 9 families with variable neurodevelopmental phenotypes, indicating that complete loss of RHOBTB2 is pathogenic as well.ConclusionBy identifying genotype-phenotype correlations regarding location and consequences of de novo missense variants in RHOBTB2 and by identifying biallelic truncating variants, we further delineate and expand the molecular and clinical spectrum of RHOBTB2-related phenotypes, including both autosomal dominant and recessive neurodevelopmental disorders.     

Polygenic risk scores and risk-stratified breast cancer screening: Familiarity and perspectives of health care professionals

PurposeHealth care professionals are expected to take on an active role in the implementation of risk-based cancer prevention strategies. This study aimed to explore health care professionals’ (1) self-reported familiarity with the concept of polygenic risk score (PRS), (2) perceived level of knowledge regarding risk-stratified breast cancer (BC) screening, and (3) preferences for continuing professional development.MethodsA cross-sectional survey was conducted using a bilingual—English/French—online questionnaire disseminated by health care professional associations across Canada between November 2020 and May 2021.ResultsA total of 593 professionals completed more than 2 items and 453 responded to all questions. A total of 432 (94%) participants were female, 103 (22%) were physicians, and 323 (70%) were nurses. Participants reported to be unfamiliar with (20%), very unfamiliar (32%) with, or did not know (41%) the concept of PRS. Most participants reported not having enough knowledge about risk-stratified BC screening (61%) and that they would require more training (77%). Online courses and webinar conferences were the preferred continuing professional development modalities.ConclusionThe study indicates that health care professionals are currently not familiar with the concept of PRS or a risk-stratified approach for BC screening. Online information and training seem to be an essential knowledge transfer modality.     

糖尿病患者红细胞内几种核苷酸含量的测定

本文采用HPLC法测定了8例糖尿病患者红细胞的核苷酸含量。结果表明,糖尿病患者红细胞的ATP含量显著低于正常人,且以青年红细胞为甚;糖尿病患者红细胞AMP含量则显著高于正常人。本文就上述结果进行了初步讨论。