Prevalence and genetic analysis of thalassemia in childbearing age population of Hainan,The Free Trade Island in Southern China

BackgroundHainan has one of the high incidences of thalassemia in China, but the epidemiological data in the whole province has not been reported yet. The objective of our study was to reveal the true prevalence and molecular mutation spectrum of thalassemia in the population of Hainan who are of childbearing age.MethodsWe screened 166,936 individuals from 19 cities and counties in Hainan by hematological parameters analysis, and further conducted genetic analysis for individuals whose MCV was less than 82fL.ResultsIn total, 21,619 (12.95%) subjects were diagnosed as thalassemia carriers or patients. The overall prevalence of α‐thalassemia, β‐thalassemia, and α+β‐thalassemia were 10.39%, 1.38%, and 1.18%, respectively. Eleven α‐thalassemia mutations and sixteen β‐thalassemia mutations were identified. The high‐frequent genotypes of α‐thalassemia were ‐α^3.7/αα (19.70%), ‐α^4.2/αα (19.39%), αα/‐‐^SEA (15.60%), α^WSα/αα (9.24%), and ‐α^3.7/‐α^4.2 (8.90%), and those of β‐thalassemia were β^{CD41/42(−TTCT)}/β^N (58.92%), β^−28(A>G)/β^N (16.05%), β^{IVS−Ⅱ−654(C>T)}/β^N (8.42%), β^CD71/72(+A)/β^N (6.03%), β^CD17(A>T)/β^N (5.47%), and β^{CD26 (GAG>AAG)}/β^N (2.69%). In addition, the frequencies and hematological profiles of many rare mutations of α‐ [Fusion, HKαα, αααanti^4.2, IVS‐II‐55 (T>G), IVS‐II‐119 (−G,+CTCGGCCC)] and β‐globin genes [−50 (G>A), IVS‐Ⅱ‐81 (C>T)] in Hainan were reported for the first time.ConclusionOur study revealed the high prevalence and extensive molecular spectrum of thalassemia in childbearing age population of Hainan, suggesting thalassemia in Hainan ranks second in prevalence among all regions in China. The findings will be useful for genetic counseling and prevention of thalassemia.     

Mild cognitive impairment in adult: A neuropsychological review

Mild cognitive impairment (MCI) is associated with an increased risk of developing dementia. This is clinically relevant overt dementia can be prevented if treatment strategies are devised for MCI. Neuropsychological deficits in this condition are very common and are important clinically for treatment and outcomes. We aimed to review various neuropsychological deficits in MCI. Further, we have presented the current evidence for nosological status, neuroanatomical basis, and clinical outcome of this heterogeneous construct. All published papers on the topic of neuropsychological deficits in MCI on Medline and other databases were reviewed. A wide range of memory and executive function deficits are common in MCI patients. However, several studies are limited by either improper designs or inadequate sample sizes. Several neuropsychological impairments like memory function and executive functions can be diagnosed in MCI. The evidence base for the exact neuroanatomical basis of MCI is not robust yet. However, given the wide range of outcomes, controversies and debates exist regarding the nosological significance of the deficits. Hence, more studies are needed to specifically locate the impairments and further delineate the construct of MCI.     

Neurophysiological correlates of memory illusion in both encoding and retrieval phases

False recognition of a critical lure at retrieval in the Deese-Roediger-McDermott (DRM) paradigm depends on different processing of its corresponding associates in the encoding phase. The current study recorded ERPs in both the encoding and retrieval phases to investigate the neural correlates of differential processing of true and false memories, and the roles of encoding and retrieval in eliciting memory illusion. The ERPs recorded at the study phase were characterized by a smaller N170 component and a larger amplitude late positive component (LPC) for associates that elicited later memory illusion than those that did not elicit later memory illusion. These ERP results suggest that increased active semantic associative processing or a gist representation was established for those items that elicited later memory illusion. This interpretation was supported by the serial-position analysis of the ERPs at encoding. Three ERP components were identified at retrieval. The equal early ERP old/new effects for true and false recognition reflected similar semantic priming. The parietal ERP old/new effect was greater for true than for false recognition, reflecting the recollection processes. A late slow negativity ERP distributed at the parietal and right frontal electrode sites differentiated between true and false recognition. The ERP results confirmed that both encoding and retrieval processes are involved in eliciting false memory. The parietal and frontal distributions of LPC at encoding and the late negativity at retrieval may imply a common neural mechanism in monitoring memory encoding and retrieval.     

不同栽植密度和施肥量下党参生物量变化动态及其效应研究

通过栽植密度和施肥量二因素四水平三重复随机区组试验结果:对茎叶生物量积累最具优势的组合为密度105万株/hm2和施肥量240 kg/hm2,增量为652 mg/d;对单根生物量积累最优组合为密度60万株/hm2和施肥量240 kg/hm2,单根重达14.88 g.本试验结果可为党参种植及田间管理提供参考.     

丹红注射液联合巴曲酶治疗急性进展性脑梗死60例疗效观察

目的：观察丹红注射液联合巴曲酶治疗急性进展性脑梗死的疗效。方法：60例发病时间在72h内、病情呈进展性加重的脑梗死患者,随机分为观察组和对照组,每组30例,对照组给予巴曲酶,治疗组在此基础上加用丹红注射液治疗。观察2周后神经功能缺损程度评分、日常生活能力评分及临床疗效。随时记录不良反应。结果：治疗组神经功能缺损评分较对照组下降明显,2组比较差异有统计学意义（P〈0.05）,治疗组日常生活能力评分较对照组明显提高,2组比较差异有统计学意义（P〈0.05）;治疗组显效率及总有效率为50.0%和83.3%,对照组显效率及总有效率为30.0%和66.7%,2组比较有统计学意义（P〈0.05）。且无明显不良反应。结论：丹红注射液联合巴曲酶治疗急性进展性脑梗死安全有效。     

知柏地黄丸对解脲脲原体感染不育患者精液指标的影响

目的观察知柏地黄丸对解脲脲原体（UU）感染不育患者精液指标的影响及临床疗效。方法选择合并UU感染的不育（精子活力低下症）患者120例,随机分为知柏地黄丸治疗组（观察组）64例和西药治疗组（对照组）56例。治疗组以知柏地黄丸口服,对照组口服VitE、ATP及敏感抗生素。中西药组均治疗75天,治疗前后对精液指标进行检测并行对比分析,观察临床疗效。结果治疗后两组精子活率、活力及正常形态百分率较治疗前均有改善,观察组各指标优于对照组（P〈0.05）;观察组治愈率28.12%,总有效率为89.06%,对照组治愈率为16.07%,总有效率为69.64%,两组治愈率和总有效率比较差异有统计学意义（P〈0.01）。结论知柏地黄丸可以通过抑制UU生长,改善精液理化状况,提高精液质量,有效治疗UU感染性不育症。     

芍药汤通过cAMP/PKA/CREB信号通路调控溃疡性结肠炎水液代谢及肠上皮通透性的作用机制

目的：基于“大肠主津”理论探讨环磷酸腺苷/蛋白激酶A/环磷酸腺苷反应成分结合蛋白(cAMP/PKA/CREB)信号通路在溃疡性结肠炎(UC)水液代谢及肠上皮通透性中的作用及芍药汤的干预机制。方法：将60只雄性SD大鼠分为空白组、模型组、美沙拉嗪组(0.42 g·kg^-1)、芍药汤低、中、高剂量组(11.1、22.2、44.4 g·kg^-1),每组10只。采用复合病因造模法建立UC湿热内蕴证大鼠模型,空白组和模型组分别给予生理盐水灌胃,美沙拉嗪组给予美沙拉嗪灌胃,芍药汤低、中、高剂量给予对应剂量的芍药汤灌胃,灌胃周期为14 d。观察各组大鼠腹泻评分及粪便含水率变化,采用酶联免疫吸附测定法(ELISA)检测血浆二胺氧化酶(DAO)、D-乳酸含量,免疫组化法检测各组大鼠结肠组织中水通道蛋白(AQP)8、AQP4及肠黏膜通透性相关蛋白ZO-1、Occludin的蛋白表达水平;蛋白免疫印迹法(Western blot)检测结肠组织中cAMP、PKA、CREB蛋白表达。结果：与空白组比较,模型组大鼠腹泻评分及粪便含水率显著增高(P<0.01),血浆...