Zinc and Copper Levels in Iranian Patients with Psoriasis: A Case Control Study

Zinc and copper are important cofactors and modulators of many critical biological functions in many dermatological diseases including psoriasis. Studies must be performed in different societies to organize a governmental health organization nutritional program. Due to the lack of information related to these trace elements in Iranian psoriasis patients, the aim of this observational case–control study was to compare the serum zinc and copper levels and the zinc/copper ratio in psoriatic patients and healthy volunteers in Northern Iran. Zinc and copper serum concentrations were assayed in 25 selected psoriasis patients and compared with sex- and age-matched healthy volunteers. The mean copper level in psoriatic patients was significantly higher than in healthy volunteers (p?=?0.003), but no significant difference was observed in the zinc concentration between the two groups (p?=?0.57). This study was the first one among Iranian society, and no information have been published in the field yet. The results bring some new information related to Iranian psoriatic patients in contrast to some other studies in different region so that preventive programs could be made in this regard particularly for Iranian population. With respect to the high copper concentration in the Iranian psoriatic population, using copper-chelating agents, such as penicillamine may be suggested for Iranian patients following further comprehensive investigations.     

GDM患者综合性干预的应用研究

本研究旨在探讨综合性干预对妊娠期糖尿病(gestational diabetes mellitus, GDM)孕妇妊娠结局及新生儿并发症的影响。本研究选取130例妊娠晚期糖尿病患者随机分组,对照组患者给予常规护理,试验组患者实施综合性干预,观察两组患者血糖指标、妊娠结局、新生儿健康状况、血脂水平差异。实验结果显示,试验组空腹血糖(fasting blood glucose, FBG)、糖化血清蛋白(glycosylated serum pritein, GSP)、血管细胞黏附分子-1(CD106)明显低于对照组(p<0.05);试验组早产、剖宫产、羊水过多、产后出血、胎儿窘迫现象明显低于对照组(p<0.05);试验组患者新生儿窒息、巨大儿、新生儿低血糖、新生儿高胆红素血症显著低于对照组(p<0.05);治疗后实验组患者TC (5.63±1.52) mmol/L,TG (3.18±0.45) mmol/L,LDL-C (3.15±0.64) mmol/L显著低于对照组(p<0.05)。研究表明,针对妊娠晚期糖尿病患者应用综合性干预可改善患者血糖水平、血脂水平、妊娠结局,降低巨大儿发生率,具有临床应用推广价值。     

Genetics of Aldosterone-Producing Adenoma in Korean Patients

Objectives

Recently, somatic mutations in KCNJ5, ATP1A1, ATP2B3, and CACNA1D genes were found to be associated with the pathogenesis of aldosterone-producing adenoma (APA). This study aimed to investigate the prevalence of somatic mutations in KCNJ5, ATP1A1, ATP2B3, and CACNA1D and examine the correlations between these mutations and the clinical and biochemical characteristics in Korean patients with APA.

Methods

We performed targeted gene sequencing in 66 patients with APA to detect somatic mutations in these genes.

Results

Somatic KCNJ5 mutations were found in 47 (71.2%) of the 66 patients with APA (31 cases of p.G151R and 16 cases of p.L168R); these two mutations were mutually exclusive. Somatic mutations in the ATP1A1, ATP2B3, and CACNA1D genes were not observed. Somatic KCNJ5 mutations were more prevalent in female patients (66% versus 36.8%, respectively; P = 0.030). Moreover, patients with KCNJ5 mutations comprised a significantly higher proportion of patients younger than 35 years of age (19.1% versus 0%, respectively; P = 0.040). There were no significant differences in pre-operative blood pressure, plasma aldosterone, serum potassium, lateralization index, and adenoma size according to mutational status. Patients with KCNJ5 mutations were less likely to need antihypertensive medications after adrenalectomy compared with those without mutation (36.2% versus 63.2%; P = 0.045).

Conclusions

The present study demonstrated the high prevalence of somatic KCNJ5 mutations in Korean patients with APA. Carriers of somatic KCNJ5 mutations were more likely to be female. Early diagnosis and better therapeutic outcomes were associated with somatic KCNJ5 mutations in APA.     

植物化学遗传学：一种崭新的植物遗传学研究方法

化学遗传学（chemical genetics,也称为化学基因组学,chemical genomics）研究方法是利用生物活性小分子扰动蛋白分子互作过程来研究有关的生命现象,是常规遗传学研究方法的补充和延伸。化学遗传学在植物科学中的应用——植物化学遗传学的研究在短短几年内,凭借其作为一种新的遗传学研究方法所具备的独特优势（如能够克服常规遗传学研究中的遗传冗余、突变致死难题及可提供特异强度、作用时间点上的条件性遗传扰动等）,已开始解决一些植物分子生物学中长期存在的研究难题。本文就植物化学遗传学的一般原理及其方法,以及它作为一种新的遗传学研究方法的优势及特点作一个综述．     

A Population Study of Spergula arvensis: II. Genetics and Breeding Behaviour

Genetical work has shown that one locus and two alleles areinvolved in the inheritance of a seedcoat character of Spergulaarvensis and that the hetero-zygous plants are intermediatebetween the two types of homozygous plants. It is thus possibleto translate directly the observed geographical distributionof plant frequencies into distribution of gene frequencies.The inheritance of a hairiness character is less straightforward,but in this case also there is a close relation between phenotypefrequency distribution and gene frequency distribution. Using the fact that plants heterozygous for the seedcoat characterare easily recognizable, it is possible to make an estimateof the amount of outbreeding in nature. The values obtainedrange from o to 3 per cent.     

Reverse Chemical Genetics: Comprehensive Fitness Profiling Reveals the Spectrum of Drug Target Interactions

The emergence and prevalence of drug resistance demands streamlined strategies to identify drug resistant variants in a fast, systematic and cost-effective way. Methods commonly used to understand and predict drug resistance rely on limited clinical studies from patients who are refractory to drugs or on laborious evolution experiments with poor coverage of the gene variants. Here, we report an integrative functional variomics methodology combining deep sequencing and a Bayesian statistical model to provide a comprehensive list of drug resistance alleles from complex variant populations. Dihydrofolate reductase, the target of methotrexate chemotherapy drug, was used as a model to identify functional mutant alleles correlated with methotrexate resistance. This systematic approach identified previously reported resistance mutations, as well as novel point mutations that were validated in vivo. Use of this systematic strategy as a routine diagnostics tool widens the scope of successful drug research and development.     

Genetics Meets Metabolomics: A Genome-Wide Association Study of Metabolite Profiles in Human Serum

The rapidly evolving field of metabolomics aims at a comprehensive measurement of ideally all endogenous metabolites in a cell or body fluid. It thereby provides a functional readout of the physiological state of the human body. Genetic variants that associate with changes in the homeostasis of key lipids, carbohydrates, or amino acids are not only expected to display much larger effect sizes due to their direct involvement in metabolite conversion modification, but should also provide access to the biochemical context of such variations, in particular when enzyme coding genes are concerned. To test this hypothesis, we conducted what is, to the best of our knowledge, the first GWA study with metabolomics based on the quantitative measurement of 363 metabolites in serum of 284 male participants of the KORA study. We found associations of frequent single nucleotide polymorphisms (SNPs) with considerable differences in the metabolic homeostasis of the human body, explaining up to 12% of the observed variance. Using ratios of certain metabolite concentrations as a proxy for enzymatic activity, up to 28% of the variance can be explained (p-values 10⁻¹⁶ to 10⁻²¹). We identified four genetic variants in genes coding for enzymes (FADS1, LIPC, SCAD, MCAD) where the corresponding metabolic phenotype (metabotype) clearly matches the biochemical pathways in which these enzymes are active. Our results suggest that common genetic polymorphisms induce major differentiations in the metabolic make-up of the human population. This may lead to a novel approach to personalized health care based on a combination of genotyping and metabolic characterization. These genetically determined metabotypes may subscribe the risk for a certain medical phenotype, the response to a given drug treatment, or the reaction to a nutritional intervention or environmental challenge.     

植物幼苗原发性超弱光子成像的研究

采用光子计数成像系统（PIAS）对植物幼苗萌发过程的超弱发光进行观察。结果表明,自发光子长时间积累可形成二维图象;光子计数和采集图象均可得到植物体的自发发光;通过实验探测到幼苗的根,叶在同一平面图象有不同的发光表现;光子成像系统可客观地比较生物自发超弱发光,为进一步研究超弱发光机理提供实验基础。     

营养干预对IGT 人群糖脂代谢及胰岛素抵抗的临床研究

目的：通过营养干预的手段观察其对糖耐量减低（IGT）人群糖脂代谢厦胰岛素水平的影响。方法：通过流调,以服糖耐量试验（OGTT）筛查IGT患者,随机分为对照组和干预组,干预组通过营养师进行善食调查,营养教育,饮食评价糯导总计1．5年。对照组不进行任何指导教育。两组于试验前后检查空腹血糖（FPG）,餐后2小时血糖（2hpG）,胰岛素（Ins）水平及胰岛素抵抗指教（HOMA-IR）等。结果：饮食干预组体质指数（BMI）,FPG、Ins及HomA—IR等较对照组明显下降（P〈0．01）仅2人转为糖尿病（DM）,对照组试验前后各项指标无显著变化,有6人转为DM,两组经t检验,DM的患病率有统计学意义（P〈0．05）。结论：营养干预对改善IGT患者的糖脂代谢,胰岛素抵抗有重要作用。     

Predictors of Incident and Persistent Neck/Shoulder Pain in Iranian Workers: A Cohort Study

Background

Pain in the neck and shoulder has been linked with various psychosocial risk factors, as well as with occupational physical activities. However, most studies to date have been cross-sectional, making it difficult to exclude reverse causation. Moreover, they have been carried out largely in northern Europe, and the relationship to psychosocial factors might be different in other cultural environments.

Methods

To explore causes of neck/shoulder pain, we carried out a longitudinal study in Iranian nurses and office workers. Participants (n  = 383) completed a baseline questionnaire about neck/shoulder pain in the past month and possible risk factors, and were again asked about pain 12 months later. Associations with pain at follow-up were explored by Poisson regression and summarised by prevalence rate ratios (PRRs).

Results

After adjustment for other risk factors, new pain at follow-up was more frequent in office workers than nurses (PRR 1.9, 95%CI 1.3–2.8), among those with worst mental health (PRR 1.8, 95%CI 1.0–3.0), in those who reported incentives from piecework or bonuses (PRR1.4, 95%CI 1.0–2.0), and in those reporting job dissatisfaction (PRR 1.5, 95%CI 1.0–2.1). The strongest predictor of pain persistence was somatising tendency.

Conclusions

Our findings are consistent with a hazard of neck/shoulder pain from prolonged use of computer keyboards, although it is possible that the association is modified by health beliefs and expectations. They also indicate that the association of low mood with neck/shoulder pain extends to non-European populations, and is not entirely attributable to reverse causation. Psychosocial aspects of work appeared to have relatively weak impact.     

Genetics of cat hemoglobins: A quantitative polymorphism

Blood samples from domestic cats, representing the parents (26) and offspring (91) from 33 matings, were analyzed to determine the proportions of hemoglobins A and B. Evidence is presented that the proportions of the two hemoglobins are genetically determined and that cats may be divided into three groups on the basis of this characteristic. Family data and Hardy-Weinberg analysis support the hypothesis that the three groups represent the possible combinations of an allelic gene pair. In an attempt to explain the observed phenotypic differences, possible points of action of this gene pair are discussed, including effects on rates of synthesis or epigenetic modification of globin chains.     

Genetics of urinary pepsinogen: A new hypothesis

Summary A new genetic model is proposed to explain the inheritance of the urinary pepsinogen (PG1) polymorphism. Each main fraction, 3, 4 and 5, in the multibanded electrophoretic pattern, is determined by its own specific gene, B, C and D respectively. The intensity ratio of the fractions is principally determined by the number of gene copies. Accordingly, the PG1 phenotypes are determined by gene combinations, haplotypes, some of which may be identical to alleles in previous one locus models. Some critical families, not interpretable using previous genetic models, are presented to support the hypothesis. Preliminary population data from the Netherlands are described. The molecular background of this polymorphism and its relevance for gastric (pre)malignancy is discussed.