人工种植红景天不同药用部位中红景天苷的含量测定

目的：测定人工种植红景天不同药用部位花瓣、茎、根的含量。方法：取各1 g样品经过60%的乙醇溶解,超声波清洗器清洗50 min,过滤,旋蒸,加2 mL的甲醇,用微孔滤膜（0.45 μm）过滤,采用CAPCELL PAK C₁₈柱（2.0 mm× 150 mm,i.d.,3 μm）,柱温 30 ℃,波长278 nm;样品温度10 ℃,进样体积10 μL。流动相为甲醇-1%乙酸溶液 45：55,流速为1 mL·min^-1进行定量分析。结果：有效部位中的红景天苷含量从高到低依次为花瓣（35.00mg）、根（18.89mg）、茎（1.59 mg）。结论：建立了红景天中红景天苷含量的高效液相色谱方法,可适用于不同药材中红景天苷含量的测定。     

Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project

Taylor A, Wang D, Patel K, Whittall R, Wood G, Farrer M, Neely RDG, Fairgrieve S, Nair D, Barbir M, Jones JL, Egan S, Everdale R, Lolin Y, Hughes E, Cooper JA, Hadfield SG, Norbury G, Humphries SE. Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project. Cascade testing using DNA‐mutation information is now recommended in the UK for patients with familial hypercholesterolaemia (FH). We compared the detection rate and mutation spectrum in FH patients with a clinical diagnosis of definite (DFH) and possible (PFH) FH. Six hundred and thirty‐five probands from six UK centres were tested for 18 low‐density lipoprotein receptor gene (LDLR) mutations, APOB p.Arg3527Gln and PCSK9 p.Asp374Tyr using a commercial amplification refractory mutation system (ARMS) kit. Samples with no mutation detected were screened in all exons by single strand conformation polymorphism analysis (SSCP)/denaturing high performance liquid chromatography electrophoresis (dHPLC)/direct‐sequencing, followed by multiplex ligation‐dependent probe amplification (MLPA) to detect deletions and duplications in LDLR.The detection rate was significantly higher in the 190 DFH patients compared to the 394 PFH patients (56.3% and 28.4%, p > 0.00001). Fifty‐one patients had inadequate information to determine PFH/DFH status, and in this group the detection rate was similar to the PFH group (25.5%, p = 0.63 vs PFH). Overall, 232 patients had detected mutations (107 different; 6.9% not previously reported). The ARMS kit detected 100 (44%) and the MLPA kit 11 (4.7%). Twenty‐eight (12%) of the patients had the APOB p.Arg3527Gln and four (1.7%) had the PCSK9 p.Asp374Tyr mutation. Of the 296 relatives tested from 100 families, a mutation was identified in 56.1%. In 31 patients of Indian/Asian origin 10 mutations (two previously unreported) were identified. The utility of the ARMS kit was confirmed, but sequencing is still required in a comprehensive diagnostic service for FH. Even in subjects with a low clinical suspicion of FH, and in those of Indian origin, mutation testing has an acceptable detection rate.     

Comprehensive association study of type 2 diabetes and related quantitative traits with 222 candidate genes

OBJECTIVE—Type 2 diabetes is a common complex disorder with environmental and genetic components. We used a candidate gene–based approach to identify single nucleotide polymorphism (SNP) variants in 222 candidate genes that influence susceptibility to type 2 diabetes.RESEARCH DESIGN AND METHODS—In a case-control study of 1,161 type 2 diabetic subjects and 1,174 control Finns who are normal glucose tolerant, we genotyped 3,531 tagSNPs and annotation-based SNPs and imputed an additional 7,498 SNPs, providing 99.9% coverage of common HapMap variants in the 222 candidate genes. Selected SNPs were genotyped in an additional 1,211 type 2 diabetic case subjects and 1,259 control subjects who are normal glucose tolerant, also from Finland.RESULTS—Using SNP- and gene-based analysis methods, we replicated previously reported SNP-type 2 diabetes associations in PPARG, KCNJ11, and SLC2A2; identified significant SNPs in genes with previously reported associations (ENPP1 [rs2021966, P = 0.00026] and NRF1 [rs1882095, P = 0.00096]); and implicated novel genes, including RAPGEF1 (rs4740283, P = 0.00013) and TP53 (rs1042522, Arg72Pro, P = 0.00086), in type 2 diabetes susceptibility.CONCLUSIONS—Our study provides an effective gene-based approach to association study design and analysis. One or more of the newly implicated genes may contribute to type 2 diabetes pathogenesis. Analysis of additional samples will be necessary to determine their effect on susceptibility.Type 2 diabetes is a metabolic disorder characterized by insulin resistance and pancreatic β-cell dysfunction and is a leading cause of morbidity and mortality in the U.S. and worldwide. The incidence of type 2 diabetes is rapidly increasing, with 1.6 million new cases of diabetes diagnosed in individuals aged ≥20 years in the U.S. in 2007 (available at http://www.diabetes.niddk.nih.gov/dm/pubs/statistics/). While environmental factors play a major role in predisposition to type 2 diabetes, substantial evidence supports the influence of genetic factors on disease susceptibility. For example, the twin concordance rate is an estimated 34% for monozygotic twins and 16% for dizygotic twins (1). However, the underlying genetic variants are just beginning to be identified (2).Numerous published reports (3–5) have identified association between type 2 diabetes and common genetic variants in human populations; however, until very recently, variants in only a few genes have been consistently replicated across populations and with large sample sizes. Among these are the Pro12Ala (rs1801282) variant in peroxisome proliferator–activated receptor γ (PPARG) (6), the Glu23Lys (rs5210) variant in the potassium channel gene KCNJ11 (7), and several variants in the Wnt-receptor signaling pathway member TCF7L2 (8).Recent genome-wide studies have implicated many previously unreported genes in type 2 diabetes susceptibility. The first reported genome-wide association (GWA) scan implicated variants at five susceptibility loci that include TCF7L2 and novel loci near the genes SLC30A8, IDE-KIF11-HHEX, LOC387761, and EXT-ALX4 (9). Three companion GWA studies (10–12), including one by our group, replicated evidence for PPARG, KCNJ11, TCF7L2, SLC30A8, and IDE-KIF11-HHEX and provided new evidence for CDKAL1, CDKN2A-CDKN2B, IGF2BP2, FTO, and a region of chromosome 11 with no annotated genes. Additional GWA studies (13–18) provided additional evidence for TCF7L2, CDKAL1, and SLC30A8. The candidate genes WFS1 (19) and TCF2 (20,21) have also been confirmed in large samples, bringing the current list of type 2 diabetes susceptibility loci to at least 10. The recent discovery of these loci still explains only a small fraction (∼2.3%) of the overall risk of type 2 diabetes (12). Therefore, novel susceptibility genes remain to be identified through increasingly comprehensive analyses of both individual genes and the entire genome.The Finland-U.S. Investigation of Type 2 Diabetes Genetics (FUSION) study aims to identify variants influencing susceptibility to type 2 diabetes and related quantitative traits in the Finnish population (22). FUSION has previously identified modest type 2 diabetes association in Finns with variants in HNF4A (23); four genes known to cause maturity-onset diabetes of the young (5,23,24); PPARG, KCNJ11, ENPP1, SLC2A2, PCK1, TNF, IL6 (5), and TCF7L2 (25); and the loci identified in the GWA studies.As a complementary approach to GWA studies, which are conducted without a priori biological hypotheses, we sought to perform an in-depth analysis of >200 genes likely to influence susceptibility to type 2 diabetes and quantitative trait variation that we selected by applying CandidAtE Search And Rank (CAESAR), a text- and data-mining algorithm (26). We aimed to analyze the full spectrum of HapMap-based common variation in each of these candidate genes. The combination of high throughput genotyping, linkage disequilibrium (LD) information from HapMap (27), the ability to impute ungenotyped variants (28), and the improved functional annotation of the genome makes in-depth candidate gene–based association analysis possible.     

Group treatments for sensitive health care problems: a randomised controlled trial of group versus individual physiotherapy sessions for female urinary incontinence

Background  

The aim was to compare effectiveness of group versus individual sessions of physiotherapy in terms of symptoms, quality of life, and costs, and to investigate the effect of patient preference on uptake and outcome of treatment.     

模拟教学法可改善成人糖尿病患者的血糖控制

初级保健医师(primary care physicians,PCPs)对继续医学教育的需求很大.为了评估以病例为基础的模拟教学法是否可以提高初级保健医师对糖尿病的诊疗水平,美国明尼苏达州健康合作者研究基金会和医疗集团进行了相关的研究. 研究选择了美国明尼苏达州健康合作者研究基金会和医疗集团旗下的11个诊所的41名初级保健医师,随机分为参与模拟教学组和不参与模拟教学组.在模拟教学组中,给每位初级保健医师派发了1 2个2型糖尿病的模拟病例,这些病例都是针对研究人员在电子病历中观察到的初级保健医师诊疗水平的不足之处所专门设计的,每个模拟病例都需要初级保健医师在15分钟内完成诊疗过程.