Diagnosis of Fabry Disease via Analysis of Family History

Fabry disease is an X-linked lysosomal storage condition caused by a deficiency of α-galactosidase A. In order to determine the average number of family members who are diagnosed with Fabry disease following the diagnosis of a proband, four lysosomal storage disease centers across the United States reviewed the completed pedigrees of their Fabry disease patients. In addition, data from three Fabry disease families from other centers were submitted by patients directly. The pedigree review found 74 probands (54 males and 20 females) who had 357 diagnosed family members, of which 223 were female (60.5%) and 146 were male (39.5%). Analysis found that, on average, there were five family members diagnosed with Fabry disease for every proband. Now that enzyme replacement therapy (ERT) is available for the treatment of Fabry disease, this finding emphasizes the need for all health care professionals to ensure a detailed pedigree has been constructed for each patient affected by Fabry disease and to encourage testing and evaluation of all at-risk family members.     

Age and Body Satisfaction Predict Diet Adherence in Adolescents with Inflammatory Bowel Disease

The aim of the current study was to determine whether age and body satisfaction predict dietary adherence in adolescents with Inflammatory Bowel Disease (IBD), and whether older females are less adherent than younger males and females. Forty-four participants aged 10–21 with IBD were recruited. Participants provided informed consent and demographics. Body satisfaction was measured by a questionnaire and a task in which participants selected their current and ideal body image out of silhouettes depicting bodies ranging from underweight to obese. Adherence was measured by marking a 100 mm visual analog scale, the 1-week completion of a dietary log, and a questionnaire evaluating coping strategies used for overcoming obstacles to dietary adherence. Age was related to dietary adherence, with younger children being more likely to adhere. Participants more satisfied with their body reported better dietary adherence. Findings remained consistent across multiple measures of body satisfaction and adherence. Healthcare providers and parents should be informed of these findings in order to improve adherence.     

Consenting to uncertainty: challenges for informed consent to disease screening—a case study

This paper uses chronic beryllium disease as a case study to explore some of the challenges for decision-making and some of the problems for obtaining meaningful informed consent when the interpretation of screening results is complicated by their probabilistic nature and is clouded by empirical uncertainty. Although avoidance of further beryllium exposure might seem prudent for any individual whose test results suggest heightened disease risk, we will argue that such a clinical precautionary approach is likely to be a mistake. Instead, advice on the interpretation of screening results must focus not on risk per se, but on avoidable risk, and must be carefully tailored to the individual. These points are of importance for individual decision-making, for informed consent, and for occupational health.

Diagnosis of Parkinson’s disease using modified grey wolf optimization

This paper presents the Modified Grey Wolf Optimization (MGWO) algorithm which helps with the identification of the symptoms of Parkinson’s disease at a premature stage. Parkinson disease is kind of a movement malady, which if not cured timely can prove to be fatal.Thus it becomes significant to identify Parkinson’s disease at its premature phase so proper medications can provide longevity to patient by controlling the symptoms. In this work, a new model named Modified Grey Wolf Optimization (MGWO) has been proposed grounded on the traditional Grey Wolf Optimizer (GWO), which acts as a search strategy for feature selection. GWO is a meta-heuristic algorithm which is enthused by hunt down behavior of wolves. Random forest, k-nearest neighbor classifier and decision tree espy on selected features. The proposed model is evaluated using various types of datasets of voice, handwriting (spiral and meander) and speech. The put forward algorithm helps in the prediction of Parkinson disease with an estimated accuracy of 94.83%, detection rate of 98.28%, false alarm rate of 16.03% and further aid the individuals to receive a functional treatment at an early stage. The proposed bio-inspired algorithm is stable enough to find out the optimal subset of features. At last the results derived from the evaluation of proposed algorithm on datasets are compared with the results of Optimized Cuttlefish Algorithm (OCFA). The experimental results depict that the proposed algorithm helps in maximizing the accurateness and minimizing the number of features selected.     

External details revisited – A new taxonomy for coding ‘non-episodic’ content during autobiographical memory retrieval

Autobiographical memory (ABM) is typically held to comprise episodic and semantic elements, with the vast majority of studies to date focusing on profiles of episodic details in health and disease. In this context, ‘non-episodic’ elements are often considered to reflect semantic processing or are discounted from analyses entirely. Mounting evidence suggests that rather than reflecting one unitary entity, semantic autobiographical information may contain discrete subcomponents, which vary in their relative degree of semantic or episodic content. This study aimed to (1) review the existing literature to formally characterize the variability in analysis of ‘non-episodic’ content (i.e., external details) on the Autobiographical Interview and (2) use these findings to create a theoretically grounded framework for coding external details. Our review exposed discrepancies in the reporting and interpretation of external details across studies, reinforcing the need for a new, consistent approach. We validated our new external details scoring protocol (the ‘NExt’ taxonomy) in patients with Alzheimer's disease (n = 18) and semantic dementia (n = 13), and 20 healthy older Control participants and compared profiles of the NExt subcategories across groups and time periods. Our results revealed increased sensitivity of the NExt taxonomy in discriminating between ABM profiles of patient groups, when compared to traditionally used internal and external detail metrics. Further, remote and recent autobiographical memories displayed distinct compositions of the NExt detail types. This study is the first to provide a fine-grained and comprehensive taxonomy to parse external details into intuitive subcategories and to validate this protocol in neurodegenerative disorders.     

Does transcranial direct current stimulation during writing alleviate upper limb freezing in people with Parkinson’s disease? A pilot study

Transcranial direct current stimulation (tDCS) over the primary motor cortex (M1) can boost motor performance in Parkinson’s disease (PD) when it is applied at rest. However, the potential supplementary therapeutic effect of the concurrent application of tDCS during the training of motor tasks is largely unknown. The present study examined the effects of tDCS on upper limb motor blocks during a freezing-provoking writing task (the funnel task) requiring up- and down-stroke movements at alternating amplitudes. Ten PD patients and 10 age-matched controls underwent two sessions of writing combined with 20 min of anodal or sham tDCS on the left M1 in a randomized cross-over design. The primary outcome was the number of upper limb freezing episodes during five trials of the funnel task on a touch-sensitive tablet. PD patients showed a significant reduction in freezing episodes during tDCS compared to sham. No effects of tDCS were found for the amplitude, variability and speed of the strokes outside the freezing episodes. However, patients who reported freezing episodes in daily life (N = 6) showed a beneficial effect of tDCS on stroke characteristics. These results indicate a subgroup-dependent variability in response to non-invasive brain stimulation applied during the performance of motor tasks in PD. This warrants future studies to examine tDCS as an adjuvant tool for training programs aimed to reduce motor deficits related to freezing.     

5HT antagonists attenuate MK801-impaired radial arm maze performance in rats

Glutamatergic hypofunction occurs in Alzheimer's disease (AD). MK801, a noncompetitive blocker of glutamate N-methyl-D-aspartate receptors, was used to disrupt the cognitive performance of rats trained on a delayed nonmatching to sample radial maze task. Drugs which act by blocking serotonin (5-HT) receptors were evaluated for their ability to reduce the cognitive impairment produced by MK801. Specifically, WAY-100635, a selective 5-HT1A receptor antagonist, buspirone, a 5-HT1A partial agonist, ritanserin, a 5-HT2 antagonist, and ondansetron, a 5-HT3 antagonist, were assessed. In addition, the muscarinic agonist arecoline was evaluated for its potential cognitive benefit in this model. It was found that WAY-100635 significantly reduced the cognitive impairment induced by MK801. Treatment with single doses of ritanserin, ondansetron, or arecoline in combination with MK801 did not result in a cognitive impairment, indicating that these drugs attenuated the MK801 impairment. The combination of buspirone and MK801 resulted in an inability of the animals to complete the task. These results suggest that interactions between 5-HT and glutamate may mediate the beneficial effects of reducing cognitive impairment and that 5-HT antagonists, especially selective 5-HT1A antagonists, may be useful in treating AD. Further, it is indicated that the MK801 model of cognitive impairment may add to the armamentarium of tools available to predict treatment efficacy in AD.     

药物经济学在疾病管理中的应用

随着近年来慢性病患者的增多,慢性病防治成本的增加,各国政府急需一种方法来降低慢性病患者医疗保健费用,减少卫生资源的浪费;而疾病管理作为解决上述问题的一种有效模式,本文讲述了其定义以及其实施的动因。同时指出药物经济学作为疾病管理中有效的评价工具及其在改善卫生保健资源利用方面的重大作用,阐述了其定义和评价方法,及其在疾病管理中应用时的选取,然后描述了其应用过程中存在的问题及解决对策。     

门诊性病患者的心理问题、产生原因及对应处置决策研究

研究门诊性病患者因承受巨大心理压力而引起的心理健康问题,剖析产生的原因,制定科学的对应处置决策,因人而异地使用药物种类,给予相应的心理治疗,创造良好的就医环境,使患者病痛解除,心理压力释放,身心恢复健康。     

石家庄市区缺血性心脑血管病级预防中阿司匹林的应用状况初探

调查在河北省石家庄市区冠心病和缺血性脑血管病二级预防中阿司匹林的应用状况。通过对原住院患者随访,对内科门诊、专家门诊和社区门诊患者通过问卷调查,收集服用阿司匹林的有关资料,根据阿司匹林的应用情况,将患者分为两组：1组为服药组：患者规范或不规范服用阿司匹林;2组为未用药组：患者从未服阿司匹林。共1885例,其中缺血性脑血管病925例、冠心病711例、冠心病与缺血性脑血管病并存249例。患者来自住院随访患者567例、内科门诊882例、社区门诊436例。全组1885例患者中,服用阿司匹林组为1226例（占比例为65．1％）,其中,规范服用阿司匹林957例（50．8％）,不规范用药269例（14．3％）,未服用阿司匹林659例（34．9％）。阿司匹林在本调查地区缺血性心脑血管病二级预防中的应用率较高,用药的依从性较好,但和阿司匹林规范化应用的专家共识还有较大的差距。