TH胶胃冠状静脉栓塞术治疗门脉高压症

11例TH胶胃冠状静脉栓塞术临床治疗结果表明:(1)11例中的4例急性上消化道大出血患者均在12h左右出血基本停止,随访近一年未再发生出血现象。(2)10例半年后复查肝功能均有不同程度改善。(3)一年后复查食道钡餐透视X线平片发现8例患者食道静脉曲张有不同程度减轻。(4)11例中1例因术中急性肝功能衰竭死亡。因此我们认为此术式操作简便,手术创伤小、较易推广,是治疗门脉高压症合并食管胃底静脉曲张出血的一种有效方法。     

抗人甲状腺过氧化物酶抗体与其他自身抗体的关系

甲状腺过氧化物酶（ＴＰＯ）是甲状腺微粒体的抗原成分。在纯化抗原建立测定抗ＴＰＯ抗体ＥＬＩＳＡ法的基础上，并对抗ＴＰＯ与其他自身抗体的伴随关系作了研究。发现除自身免疫性甲状腺病有较高阳性率外，ＳＬＥ等患者抗ＴＰＯ检出率也很高（１０％￣５２．１％），且抗ＴＰＯ阳性者，抗核抗体等其他自身抗体的阳性率也高达３０．８％￣９５．２％。抗ＴＰＯ抗体与其他自身抗体的相关系数ｒ＝０．７４６７（Ｐ〈０．０１）。     

环孢霉素A致可逆性后部白质脑病综合征的MRI表现

目的探讨环孢霉素A诱发可逆性后部白质脑病综合征(PRLS)的MRI表现。资料与方法回顾性分析1例PRLS的临床资料和MRI表现并复习文献。结果MRI显示PRLS以顶枕叶为主的皮层及皮层下白质病变,病变多呈双侧对称性分布,偶可累及双侧颞叶后部及额叶,T2WI和液体衰减翻转恢复序列(FLAIR)对病变的显示有独特的作用,扩散加权成像(DWI)能够确定PRLS的临床分期。结论PRLS在MRI上具有特征性。MRI表现结合临床资料,对PRLS多能作出正确的诊断。     

Prenatal presentation and diagnosis of Baraitser‐Winter syndrome using exome sequencing

Baraitser‐Winter cerebrofrontofacial syndrome (BWCFF) is a rare autosomal dominant developmental disorder associated with missense mutations in the genes ACTB or ACTG1. The classic presentation of BWCFF is discerned by the combination of unique craniofacial characteristics including ocular coloboma, intellectual disability, and hypertelorism. Congenital contractures and organ malformations are often present, including structural defects in the brain, heart, renal, and musculoskeletal system. However, there is limited documentation regarding its prenatal presentation that may encourage healthcare providers to be aware of this disorder when presented throughout pregnancy. Herein we describe a case of a pregnancy with large cystic hygroma and omphalocele. Whole exome sequencing (WES) was performed and a de novo, heterozygous, likely pathogenic mutation in ACTB was detected, c.1004G>A (p.Arg335His), conferring a diagnosis of BWCFF.     

Somatic von hippel-lindau mutation in clear cell papillary cystadenoma of the epididymis

Papillary cystadenoma of the epididymis is an uncommon benign lesion that may occur sporadically or as a manifestation of von Hippel—Lindau (VHL) disease. Neither immunohistochemical studies nor molecular genetic analyses of the VHL gene have been reported previously for this lesion. The authors describe two cases of clear cell papillary cystadenoma of the epididymis, both of which were initially confused with metastatic renal cell carcinoma. Both lesions showed positive immunohistochemical staining for low and intermediate molecular weight keratins (Cam 5.2 and AE1/AE3), EMA, vimentin, α₁-antitrypsin, and α₁-antichymotrypsin. Each was negative for CEA. Because clear cell papillary cystadenoma is similar to renal cell carcinoma histologically, and because both occur as components of the von Hippel—Lindau disease complex, the authors analyzed both cases for the presence of mutations in the VHL gene. A somatic VHL gene mutation was detected in one of the two tumors by polymerase chain reaction followed by single-strand conformation polymorphism analysis. Direct sequencing revealed a cytosine to thymine transition at nucleotide 694, resulting in the replacement of an arginine with a stop codon after the sixth amino acid of exon 3. As the VHL gene is believed to function as a tumor suppressor gene, VHL gene mutations may play a role in the initiation of tumorigenesis in sporadic cystadenomas of the epididymis.     

Multilocus sequence typing of Swedish invasive group B streptococcus isolates indicates a neonatally associated genetic lineage and capsule switching

Streptococcus agalactiae, also designated group B streptococcus (GBS), is an important pathogen in neonates, pregnant women, and nonpregnant adults with predisposing conditions. We used multilocus sequence typing (MLST) to characterize 158 GBS isolates that were associated with neonatal and adult invasive disease and that were collected in northern and western Sweden from 1988 to 1997. Five major genetic lineages (sequence type [ST] 19, ST-17, ST-1, ST-23, and ST-9 complexes) were identified among the isolates, including serotype Ia, Ib, and II to V isolates, indicating a highly clonal population structure among invasive GBS isolates. A number of STs were found to contain isolates of different serotypes, which indicates that capsule switching occurred rather frequently. Two distantly related genetic lineages were identified among isolates of serotype III, namely, clonal complex 19 (CC19), and CC17. CC19 was equally common among isolates from adult and neonatal disease (accounting for 10.3% of GBS isolates from adult disease and 18.7% from neonatal disease), whereas CC17 significantly appeared to be associated with neonatal invasive disease (isolated from 21.9% of neonatal isolates but only 2.6% of adult isolates). The distribution of the mobile elements GBSi1 and IS1548 reveals that they can act as genetic markers for lineages CC17 and CC19, respectively.     

一氧化氮与白细胞精子症不育的关系探讨

目的　探讨一氧化氮 (NO)与白细胞精子症不育的关系。方法　参照WHO标准方法 ,进行精液常规分析。采用过氧化物酶染色法检测精液中白细胞密度。用改良的低渗肿胀法检测精子细胞膜的完整性。采用镀铜镉还原荧光法 ,检测精液中NO代谢产物硝酸盐 (NO 3 )。结果　白细胞精子症不育组白细胞的密度为 (1.4 8± 0 .90 )× 10 9/L ,NO水平为 (10 3.5± 2 .0 ) μmol/L ,显著高于正常生育组的(0 .73± 0 .2 8)× 10 9/L和 (41.6± 1.8) μmol/L (P分别为<0 .0 5和 <0 .0 0 1)。精子的活动率、精子速度试验 (SVT)及精子头、尾部膜完整率 ,均明显低于生育组 (P <0 .0 1) ,而精子的死亡率则显著高于生育组 (P <0 .0 1)。结论　NO水平与白细胞密度呈正相关 ;与精子的活动率、SVT及精子头、尾膜的完整率呈负相关。表明当精液中的白细胞增高时 ,可产生过量的NO导致精子中毒受损使精子的受精能力下降     

基于Treg细胞功能的稳定性探讨解毒通络生津方对干燥综合征模型鼠免疫调节的作用

目的：观察不同剂量解毒通络生津方对干燥综合征模型NOD/Ltj小鼠血清白细胞介素（IL）-6、肿瘤坏死因子-α(TNF-α)及颌下腺叉头框转录因子P3(FoxP3)表达的影响,探讨解毒通络生津方对NOD/Ltj小鼠免疫调节的作用机制。方法：将30只8周龄NOD/Ltj小鼠随机分为模型组,解毒通络生津方低、中、高剂量组和羟氯喹组共5组,12周龄开始每日分别灌服等量的生理盐水,含生药9、18、36 g·kg-1的解毒通络生津方和60 mg·kg-1的羟氯喹,同时选取6只ICR小鼠作为空白组,给予等量的生理盐水灌胃。实验期间记录各组小鼠第9、12、16周龄的日均饮水量、唾液流量,给药4周后摘取组织计算颌下腺指数、脾脏指数,苏木素-伊红（HE）染色观察颌下腺组织病理形态,Meso Scale Discovery(MSD)法检测小鼠血清IL-6、TNF-α、IL-10水平,免疫组化检测颌下腺FoxP3的表达和分布,蛋白免疫印迹法（Western blot）检测小鼠颌下腺FoxP3蛋白的表达,实时荧光定量聚合酶链式反应（Real-time PCR）检测小鼠颌下腺FoxP3、TNF-α mRNA的表...     

电子鼻技术应用于白及及其近似饮片快速辨识的可行性分析

目的：探讨电子鼻技术应用于白及及其近似饮片快速辨识的可行性。方法：收集134批白及及其近似饮片（白及45批、天麻30批、玉竹30批、黄花白及29批）作为待测样品,使用PEN3型电子鼻采集样品嗅觉感官数据作为自变量X,基于2020年版《中华人民共和国药典》和地方标准的鉴别结果,以及各饮片高效液相色谱法（HPLC）指纹图谱和原始采购信息,获得辨识模型的标杆数据Y,分别采用主成分分析-判别分析（PCA-DA）、偏最小二乘法-判别分析（PLS-DA）、最小二乘法-支持向量机（LS-SVM）及K-最近邻（KNN）4种化学计量学方法建立45批白及与89批非白及的二分类辨识模型和上述4种饮片的四分类辨识模型Y=F(X)。结果：经留一法交互验证,在二分类辨识中,上述4种模型分类正判率分别为97.01%、97.01%、98.51%和97.01%;在四分类辨识中,这4种模型分类正判率分别为97.76%、89.55%、98.51%和97.01%。二分类和四分类辨识模型的最高正判率均可达到98.51%,且均以LS-SVM算法为最优,最优核函数分别选择径向基核函数和线性核函数。最优模型判别结果良好,没有未分类样...     

基于预防接种异常反应补偿的山东省卡介苗淋巴结炎经济负担测算

目的了解山东省卡介苗(BCG)淋巴结炎经济负担情况。方法以2011年5月至2019年12月山东省304例申请省级补偿的BCG淋巴结炎病例为对象,收集患者基本情况、预防接种相关情况、门诊(住院)病历和收费票据等相关资料,对其直接经济负担(包括直接医疗费用和直接非医疗费用)、间接经济负担和总经济负担进行测算,比较不同特征病例经济负担的差异。结果304例BCG淋巴结炎患者月龄的M(Q1,Q3)为3(2,4)月,其中男性239例(78.6%),淋巴结破溃71例(23.4%),手术227例(74.7%)。单纯门诊、单纯住院和门诊后住院病例分别占25.7%(78例)、7.2%(22例)和67.1%(204例)。贴现后单例直接、间接和总经济负担的M(Q1,Q3)分别为9910(5713,16074)、2081(1547,3122)和12262(7694,18571)元。直接医疗费用占直接经济负担的89.4%,直接经济负担占总经济负担的84.9%,80.0%病例的总经济负担仅占其补偿金额的20.0%左右,只有2.3%的病例总经济负担占补偿金额的60.0%以上。单纯住院和门诊后住院病例的直接、间接和总经济负担高于单纯门诊病例,手术病例的直接、间接和总经济负担高于非手术病例,淋巴结未破溃病例的直接和总经济负担高于破溃病例(均P<0.05)。结论山东省BCG淋巴结炎病例经济负担受诊疗方式的影响,且以直接医疗费用为主。