Genetic variants of the FADS1 FADS2 gene cluster are associated with altered (n-6) and (n-3) essential fatty acids in plasma and erythrocyte phospholipids in women during pregnancy and in breast milk during lactation

The enzymes encoded by fatty acid desaturase (FADS) 1 and FADS2 are rate-limiting enzymes in the desaturation of linoleic acid [LA; 18:2(n-6)] to arachidonic acid [ARA; 20:4(n-6)], and alpha-linolenic acid [ALA; 18:3(n-3)] to eicosapentaenoic acid [EPA; 20:5(n-3)] and docosahexaenoic acid [DHA; 22:6(n-3)]. ARA, EPA, and DHA play central roles in infant growth, neural development, and immune function. The maternal ARA, EPA, and DHA status in gestation influences maternal-to-infant transfer and breast milk provides fatty acids for infants after birth. We determined if single nucleotide polymorphisms in FADS1 and FADS2 influence plasma phospholipid and erythrocyte ethanolamine phosphoglyceride (EPG) (n-6) and (n-3) fatty acids of women in pregnancy or their breast milk during lactation. We genotyped rs174553, rs99780, rs174575, and rs174583 in the FADS1 FADS2 gene cluster and analyzed plasma and erythrocyte fatty acids and dietary intake for 69 pregnant women and breast milk for a subset of 54 women exclusively breast-feeding at 1 mo postpartum. Minor allele homozygotes of rs174553(GG), rs99780(TT), and rs174583(TT) had lower ARA but higher LA in plasma phospholipids and erythrocyte EPG and decreased (n-6) and (n-3) fatty acid product:precursor ratios at 16 and 36 wk of gestation. Breast milk fatty acids were influenced by genotype, with significantly lower 14:0, ARA, and EPA but higher 20:2(n-6) in the minor allele homozygotes of rs174553(GG), rs99780(TT), and rs174583(TT) and lower ARA, EPA, 22:5(n-3), and DHA in the minor allele homozygotes G/G of rs174575. We showed that genetic variants of FADS1 and FADS2 influence blood lipid and breast milk essential fatty acids in pregnancy and lactation.     

Serum 25-hydroxyvitamin D concentrations are associated with erythrocyte levels of n-3 PUFA but not risk of CVD

Increasing evidence suggests that the status of vitamin D and n-3 PUFA is associated with the risk of CVD. Major dietary sources of vitamin D include fish and fish products, which are also rich in n-3 PUFA; however, the relationship between serum 25-hydroxyvitamin D levels and tissue contents of n-3 PUFA remains unknown. The present study investigates the hypothesis that serum 25-hydroxyvitamin D and erythrocyte n-3 PUFA levels are positively correlated in patients with CVD. We recruited sixty CVD cases and matched them with sixty healthy controls based on age, sex and season during which blood was drawn for the study. As serum 25-hydroxyvitamin D levels increased, erythrocyte levels of docosapentaenoic acid, DHA, omega-3 index and total n-3 PUFA increased significantly, while erythrocyte levels of stearic acid and total SFA decreased significantly, after adjusting for age, sex, BMI and smoking. Partial correlation analysis also showed that erythrocyte n-3 PUFA levels were positively correlated (r 0·215; P?=?0·021) and total SFA content was negatively correlated (r -?0·263; P?=?0·004) with serum 25-hydroxyvitamin D levels. However, multiple logistic regression analysis showed that serum 25-hydroxyvitamin D levels were not significantly associated with the risk of CVD, after adjusting or not adjusting for age, sex, BMI and smoking. In conclusion, the results of our case-control study suggest that serum 25-hydroxyvitamin D levels are positively related to erythrocyte n-3 PUFA levels, but are not associated with the risk of CVD in this population.     

Evidence for an association between genetic variants of the fatty acid desaturase 1 fatty acid desaturase 2 ( FADS1 FADS2) gene cluster and the fatty acid composition of erythrocyte membranes

The present study gives further evidence for the recently found association between variants of the fatty acid desaturase 1 fatty acid desaturase 2 (FADS1 FADS2) gene cluster and PUFA in blood phospholipids and explores this association for cellular fatty acids in erythrocyte membranes. In a subgroup of adults participating in the Bavarian Nutrition Survey II, a cross-sectional population-based study conducted in Bavaria, Germany, allelic variation in three selected loci of the FADS1 FADS2 gene cluster was analysed and used for haplotype construction. Associations with plasma phospholipid PUFA (n 163) and PUFA in erythrocyte membranes (n 535) were investigated by regression analysis. All haplotypes of the original five-loci haplotypes of our previous study could be replicated. In addition, associations with serum phospholipid PUFA were confirmed in the present data set. Although less pronounced, associations between FADS1 FADS2 haplotypes and PUFA in erythrocyte membranes, particularly arachidonic and dihomo-gamma-linolenic acid, could be established. We provide the first replication of the association of the FADS1 FADS2 gene cluster with PUFA in blood phospholipids. For the first time, such associations were also shown for PUFA in cell membranes.     

轻度神经衰弱合并认知障碍患者的临床治疗与分析

目的：探讨和研究盐酸多奈哌齐治疗轻度神经衰弱合并认知障碍患者的临床疗效。方法病例选取为2011年1月至2012年12月之间我院收治的100例轻度神经衰弱合并认知障碍患者,根据患者入院编号进行随机分组,对照组50例采用阿米替林治疗,观察组50例则在对照组治疗基础上加用盐酸多奈哌齐治疗,两组患者治疗时间均为12周,治疗前后采用CGI、MMSE以及HAMD量表进行评定并对比。结果两组患者较治疗前CGI和MMSE评分均有显著改善,但观察组改善程度显著优于对照组（P＜0.05）;HAMD量表评分显示治疗结束后观察组在认知障碍、阻滞因子以及睡眠障碍方面改善显著优于对照组（P＜0.05）。结论盐酸多奈哌齐结合阿米替林治疗神经衰弱合并认知障碍患者的效果显著,相较于单纯采用阿米替林治疗更能够改善患者的记忆力、注意力和睡眠状况,值得在临床上推广和应用。     

载脂蛋白E基因多态性与2型糖尿病患者轻度认知功能障碍的相关性研究

目的探讨载脂蛋白E（ApoE）基因多态性与2型糖尿病（T2DM）患者轻度认知功能障碍（MCI）的相关性及T2DM合并MCI的相关危险因素。方法选择T2DM合并MCI患者40例,T2DM非MCI患者80例,应用聚合酶链式反应-限制性片段长度多态性（PCR—RFLP）方法检测ApoE的基因多态性,依据病程、血糖、血脂、体重指数等临床资料,进行非条件logistie回归分析T2DM合并MCI的独立危险因素。结果ApoE￡。等位基因的频率在T2DMMCI组高于非MCI组（25．0％vs10．0％）,差异有统计学意义（P〈0．01）。T2DM合并MCI组与非MCI组差异有统计学意义的指标：年龄、病程、餐后2h血糖、糖化血红蛋白、体重指数、糖尿病家族史、高血压、糖尿病视网膜病变、糖尿病周围神经病变、ApoE基因,其中独立危险因素有糖尿病视网膜病变（OR=3．452,P〈0．05）、周围神经病变（OR=3．252,P〈0．05）、ApoE基因（OR=2．441,P〈0．01）、糖化血红蛋白（OR=1．372,P〈0．05）、餐后2h血糖（OR=1．194,P〈0．05）、年龄（OR=1．194,P〈0．01）、病程（OR=1．142,P〈0．05）。结论ApoE8。等位基因与T2DM合并MCI明显相关,糖尿病患者的年龄、病程、血糖控制和微血管并发症均与认知功能明显相关。     

遗忘型与血管型MCL患者尿AD7c-NTP水平检测及临床价值

目的:研究遗忘型轻度认知功能障碍(aMCI)与血管型轻度认知功能障碍(VaMCI)患者尿阿尔茨海默病相关神经丝蛋白(AD7c-NTP)水平及其临床价值.方法:选取轻度认知功能障碍(MCI)患者70例,其中aMCI组40例,VaMCI组30例,收集同期健康体检者27例为对照组,应用MoCA量表进行认知功能评估,测定并比较各组的尿AD7c-NTP水平,并与认知水平进行相关性分析,通过ROC曲线分析其诊断aMCI的敏感度和特异性.结果:aMCI组的尿AD7c-NTP水平较VaMCI组和对照组明显升高(P＜0.05);相关性分析显示尿AD7c-NTP水平与MoCA评分呈负相关(r=-0.362,P＜0.01);根据ROC曲线分析,确定2 507.10 ng/L为诊断aMCI的界定值,其对应的敏感性和特异性分别为80％和77.8％,ROC曲线下面积为0.828,95％CI:0.728～0.928.结论:尿AD7c-NTP水平变化对诊断MCI,尤其是aMCI具有一定的临床价值,并且与aMCI的严重程度的可能存在一定的相关性.     

Cognitive enhancement effect of piracetam in patients with mild cognitive impairment and dementia

Effectiveness and tolerability of two piracetam-containing drugs were compared in the frame of an open, multicentre, Phase-IV, prospective study with group and self control carried out in 9 Hungarian centres in 1998. Patients with cognitive decline from Alzheimer's disease and/or cerebrovascular origin have received the drug, in the first 4 weeks in 4800, later 2400 mg daily doses. One hundred four patients finished the study. No relevant difference with statistically significant degree was registered between the two groups. Based on this fact in this study data of the 104 patients were examined together. Authors examined two problems. The first: on which cognitive function is more effective the drug. Five factors of the modified Mini-Mental State Examination were separated and compared. Nearly all of them significantly increased especially the factors of memory, and concentration-psychomotor speed. The second examined field: are there certain subgroups with prognostic value about the effectiveness of piracetam treatment. Neither the duration of the illness, nor etiologic diagnosis, severity of cognitive decline, or former treatment with piracetam did influence significantly the efficacy. In case of depressive symptoms such connection was established: the more pronounced the severity of these symptoms the higher improvement can be expected in cognitive functions. This was also stressed by the logistic regression analysis. Authors described an original evaluation method of the trail-making test, which could widen the application of this popular test in psychopharmacologic studies. Final conclusions: the cognitive enhancer effect of piracetam appeared in a few weeks. This treatment could be effective even in Alzheimer's disease, in case of more pronounced cognitive decline, longer duration of the illness, and in case of former piracetam treatment as well. The degree of cognitive improvement was most pronounced in patients with comorbid depressive symptoms.     

Plasma homocysteine is associated with the risk of mild cognitive impairment in an elderly Korean population

Elderly individuals with mild cognitive impairment (MCI) are at high risk for developing dementia, including Alzheimer's disease. Previous studies have proposed that elevated plasma homocysteine might be a risk factor for dementia. However, the impact of plasma homocysteine on MCI remains controversial. We investigated the relation between hyperhomocysteinemia and the risk of MCI in an elderly Korean population. A total of 1215 elderly subjects (aged 60-85 y) were selected from the Ansan Geriatric study to participate in this study. MCI was diagnosed on the basis of the Mayo Clinic criteria. Mean plasma homocysteine concentrations were higher in elderly subjects with MCI than in normal elderly subjects (17.6 +/- 7.4 vs. 15.7 +/- 4.8 micromol/L; P < 0.001). Subjects with hyperhomocysteinemia (>15 micromol/L) also had a higher prevalence of MCI. The unadjusted OR for MCI was greater in subjects with hyperhomocysteinemia than in normal subjects and it increased according to the degree of hyperhomocysteinemia (OR = 1.39; 95% CI = 1.09-1.79 vs. OR = 2.61; 95% CI = 1.22-5.61). These trends did not differ after adjustment for age, sex, and other putative risk factors for cognitive dysfunction (OR = 1.40; 95% CI = 1.07-1.83 vs. OR = 2.40; 95% CI = 1.08-5.31). In conclusion, hyperhomocysteinemia may be an independent risk factor for MCI in elderly Koreans. A causal relationship between plasma homocysteine levels and cognitive impairment should be evaluated in a follow-up study of elderly Korean subjects.     

外周炎性因子水平与老年人轻度认知功能障碍认知表现的关联分析

目的 探讨多种外周炎性因子水平对老年人轻度认知功能障碍（mild cognitive impairment,MCI）不同认知表现的影响。方法 采用病例对照研究,纳入MCI患者150例,正常对照101例。应用韦氏成人智力量表评定认知水平;采用酶联免疫吸附实验试剂盒和多因子检测试剂盒测定血清白介素-6（interleukin-6,IL-6）、肿瘤坏死因子-α（tumor necrosis factor-α,TNF-α）、β-淀粉样蛋白（amyloid β-protein,Aβ）中的Aβ40和Aβ42水平。结果 MCI患者血清IL-6、Aβ42水平高于正常对照,差异均有统计学意义（均有P<0.05）。在MCI人群中,言语智商随Aβ42水平的增加而降低（β=-0.285,P<0.001）;操作智商、总智商随IL-6和TNF-α水平的升高而降低（均有P<0.05）。结论 MCI患者血清IL-6、Aβ42水平升高;血清IL-6和TNF-α水平可以作为评估MCI操作智商和总智商的参考指标;Aβ42水平可以作为MCI言语智力损伤的参考指标。     

自我管理小组模式对老年轻度认知障碍患者干预效果分析

目的轻度认知障碍(mild cognitive impairment,MCI)是影响老年患者生活质量常见疾病之一。本研究分析自我管理小组模式对老年MCI患者干预效果。方法选取2016-01-01-2018-01-31广州市天河区沙东街社区卫生服务中心(40例)、广州市天河区沙河街社区卫生服务中心(38例)MCI患者共78例为研究对象,按照区域分为对照组和观察组,每组39例。对照组给予健康教育干预,观察组在对照组基础上加予自我管理小组模式干预。采用简易智能状态调查表(mini-mental state examination,MMSE)评价两组症状和体征,采用日常生活能力(activity of daily living,ADL)、老年抑郁量表(geriatric depression scale,GDS)和匹兹堡睡眠质量指数(pittsburgh sleep quality index,PSQI)评价两组干预前后生活质量情况。结果干预后,观察组MMSE评分为(28.94±2.25)分,高于对照组的(25.32±1.89)分,t=7.69,P0.001;GDS评分为(8.69±2.35)分,低于对照组的(13.47±1.15)分,t=11.41,P0.001。干预后,观察组ADL评分为(89.35±4.87)分,高于对照组的(84.10±5.36)分,t=4.53,P0.001;PSQI评分为(8.16±1.94)分,低于对照组的(10.15±3.02)分,t=6.74,P0.001。结论自我管理小组模式能够改善患者生活习惯,从而提高患者睡眠质量和身心健康。     

老年急性缺血性脑血管病患者出现轻度认知功能损害的预测研究

目的探讨老年急性缺血性脑血管病患者出现轻度认知损害的相关危险因素,并建立概率预测模型。方法选择收治的87例老年急性缺血性脑血管病患者,对可能影响其认知功能水平的危险因素进行多元Logistic回归分析。结果患者年龄、文化程度、起病时临床神经功能缺损程度、病灶数量、伴发高血压、糖尿病等为影响患者发病后出现轻度认知损害的危险因素（P〈0.05）。其中年龄、神经缺损程度和病灶数量是危险暴露因子,高血压和糖尿病病史则是保护因子。结论建立的认知功能损害概率预测模型对老年急性缺血性脑血管病患者出现轻度认知损害的治疗和护理具有一定的指导意义。     

2型糖尿病中老年住院患者轻度认知障碍与载脂蛋白E基因多态性的关系

目的探讨2型糖尿病（T2DM）中老年住院患者轻度认知功能障碍（MCI）与载脂蛋白E（ApoE）基因多态性的关系。方法采用蒙特利尔认知评估（MoCA）量表和日常生活能力评定（ADL）量表对研究对象的认知功能进行评定,共纳入T2DM患者218例,其中合并MCI患者114例（T2DM合并MCI组）,认知功能正常患者104例,以糖耐量正常、认知功能正常的119例健康者为正常对照组。采用等位基因特异性多重（multi—ARMS）聚合酶链反应（PCR）技术检测研究对象的ApoE基因型。分析各组等位基因及基因型频率分布特点并比较MoCA评分结果。结果T2DM合并MCI患者的E4／X基因型（包括基因型e3／4和e4／4）频率（37．0％）、￡4等位基因频率（24．6％）均高于患T2DM且认知功能正常患者（分别为19．8％、12．0％）及正常对照组（分别为16．4％、10．1％）,差异均有统计学意义（P〈0．05）。携带84等位基因的T2DM患者MoCA测试中视空间与执行能力、注意力与计算力、抽象和定向评分均低于未携带￡4等位基因的T2DM患者,差异均有统计学意义（P〈0.05）。结论ApoE基因多态性与T2DM合并MCI有关,S4等位基因可能是T2DM合并MCI的危险因素。     

老年人轻度认知功能障碍相关影响因素调查分析

目的：探讨影响老年人发生轻度认知功能障碍（ MCI）的相关因素,为早期预防提供依据。方法采用回顾性调查的研究方法,收集确诊的89例MCI患者作为病例组,同时收集89例非MCI患者作为对照组;收集各种可能影响MCI发生的危险因素,采用单因素和多因素了logistic回归法来筛选相关危险因素。结果单因素分析结果显示老年人MCI与年龄、教育程度、高血压、心脑血管疾病、糖尿病、高脂血症、高同型半胱氨酸血症（ Hhcy ）、嗜酒、性格内向、抑郁、白天过度睡眠、缺乏体育锻炼、地中海饮食等存在相关性（P＜0．05）;多因素分析结果显示年龄（OR＝2．575）、心脑血管疾病（OR＝2．793）、高同型半胱氨酸血症（OR＝2．022）、性格内向（OR＝4．679）、抑郁（OR＝2．956）、白天过度睡眠（OR＝3．340）、缺乏体育锻炼（OR＝2．643）均为MCI的危险因素。结论老年人发生MCI的危险因素包含高龄、心脑血管疾病、性格、心理、睡眠质量及体育锻炼情况。应针对可控因素进行早预防。     

Genetic variants within the MHC region are associated with immune responsiveness to childhood vaccinations

The influence of genetic variability within the major histocompatibility complex (MHC) region on variations in immune responses to childhood vaccination was investigated. The study group consisted of 135 healthy infants who had been immunized with hepatitis B (HBV), 7-valent pneumococcal conjugate (PCV7), and diphtheria, tetanus, acellular pertussis (DTaP) vaccines according to standard childhood immunization schedules. Genotype analysis was performed on genomic DNA using Illumina Goldengate MHC panels (Mapping and Exon Centric). At the 1 year post vaccination check-up total, isotypic, and antigen-specific serum antibody levels were measured using multiplex immunoassays. A number of single nucleotide polymorphisms (SNPs) within MHC Class I and II genes were found to be associated with variations in the vaccine specific antibody responses and serum levels of immunoglobulins (IgG, IgM) and IgG isotypes (IgG1, IgG4) (all at p < 0.001). Linkage disequilibrium patterns and functional annotations showed that significant SNPs were strongly correlated with other functional regulatory SNPs. These SNPs were found to regulate the expression of a group of genes involved in antigen processing and presentation including HLA-A, HLA-C, HLA-G, HLA-H, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-DQA1, HLA-DQB1, HLA-DOB, and TAP-2. The results suggest that genetic variations within particular MHC genes can influence immune response to common childhood vaccinations, which in turn may influence vaccine efficacy.     

蒙特利尔认知量表中文版诊断老年轻度认知功能损害的应用研究

目的 探讨蒙特利尔认知量表(Montreal cognitive assessment,MoCA)中文版诊断老年轻度认知功能损害(mild cognitive impairment,MCI)的效能.方法 选取73例MCI患者为MCI组和51例认知功能正常者为对照组,对两组进行均衡性检验及MoCA中文版评估.结果 MCI...     

蒙特利尔认知量表中文版诊断老年轻度认知功能损害的应用研究

目的探讨蒙特利尔认知量表(Montreal cognitive assessment,MoCA)中文版诊断老年轻度认知功能损害(mildcognitive impairment,MCI)的效能。方法选取73例MCI患者为MCI组和51例认知功能正常者为对照组,对两组进行均衡性检验及MoCA中文版评估。结果 MCI组MoCA总分、视空间功能、命名、计算力、语言、抽象及延迟回忆项得分显著低于对照组(P<0.01);以26分作为分界值,MoCA中文版诊断MCI结果与Petersen诊断标准结果相比较,差异无统计学意义(P=0.289),诊断符合率为0.935、敏感度为0.918、特异度为0.961、阳性预测值为0.971、阴性预测值为0.961。结论 MoCA中文版适于MCI患者的早期筛查和初步诊断。