412 research outputs found

    Concepts of patients with alopecia areata about their disease

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    BACKGROUND: Alopecia areata (AA) is a common and chronic skin disease with an unknown etiology. It may significantly affect the patient quality of life. This study was designed to evaluate the illness perception in patients with AA. METHODS: A questionnaire consisting of 25 questions about causes, timeline, consequences and control of disease were given to 80 patients with AA attending a skin clinic in Tehran, Iran. The impact of age, gender, duration of disease, education, extent of disease and family history of AA were also assessed. RESULTS: Eighty patients (38 male and 42 female) with a mean age of 27.5 years (SD = 9.3) and disease duration of 7.8 years (SD = 7.7) completed the questionnaire. 76.9% of the patients believed that the role of stress was the cause of disease. 17.1 % believed genetic background to be the main cause, this found to be more frequent in patients with positive family history of AA. More than half of patients believed that their illness had major consequences on their lives and 40% of patients believed that their illness would be likely to be permanent rather than temporary, more in patients with longer duration of disease. Only 57.5% of patients considered their treatments to be effective. CONCLUSION: AA may considerably affect various aspects of patients' lives. The patient knowledge about the causes and course of this disease is limited

    Joint angle variability and co-variation in a reaching with a rod task

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    The problem at the heart of motor control is how the myriad units of the neuromotor system are coordinated to perform goal-directed movements. Although for long these numerous degrees of freedom (DOFs) were considered redundant, recent views emphasize more that the DOFs should be considered abundant, allowing flexible performance. We studied how variability in arm joints was employed to stabilize the displaced end-effector in tool use to examine how the neuromotor system flexibly exploits DOFs in the upper extremity. Participants made pointing movements with the index finger and with the index finger extended by rods of 10, 20, and 30 cm. Using the uncontrolled manifold (UCM) method, the total joint angle variance was decomposed into two parts, the joint angle variance that did not affect the position of the end-effector (VUCM) and the variance that results in a deviation of the position of the end-effector from its mean (VORT). Analyses showed that some angles depended on length of the rod in use. For all rod lengths, VUCM was larger than VORT, and this did not differ over rod lengths, demonstrating that the arm was organized into a synergy. Finally, the variation in the joint angles in the arm as well as the degree of co-variation between these angles did not differ for the rod’s tip and the hand. We concluded that synergies are formed in the arm during reaching with an extended end-effector and those synergies stabilize different parts of the arm+rod system equally

    Cortical and cerebellar activation induced by reflexive and voluntary saccades

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    Reflexive saccades are driven by visual stimulation whereas voluntary saccades require volitional control. Behavioral and lesional studies suggest that there are two separate mechanisms involved in the generation of these two types of saccades. This study investigated differences in cerebral and cerebellar activation between reflexive and self-paced voluntary saccadic eye movements using functional magnetic resonance imaging. In two experiments (whole brain and cerebellum) using the same paradigm, differences in brain activations induced by reflexive and self-paced voluntary saccades were assessed. Direct comparison of the activation patterns showed that the frontal eye fields, parietal eye field, the motion-sensitive area (MT/V5), the precuneus (V6), and the angular and the cingulate gyri were more activated in reflexive saccades than in voluntary saccades. No significant difference in activation was found in the cerebellum. Our results suggest that the alleged separate mechanisms for saccadic control of reflexive and self-paced voluntary are mainly observed in cerebral rather than cerebellar areas

    Development of an educational intervention for patients with Irritable Bowel Syndrome (IBS) – a pilot study

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    <p>Abstract</p> <p>Background</p> <p>Many IBS patients experience that they receive limited information and that the health care system does not take their complaints seriously. We aimed to develop a structured patient education, an 'IBS school', and investigate if the efficacy could be evaluated in terms of improved knowledge, symptom severity and health related quality of life (HRQOL).</p> <p>Methods</p> <p>The IBS school consisted of six weekly two hour sessions in a group setting. Five different health care professionals were responsible for one session each. Questionnaires covering patients' experience of the education, perceived knowledge about IBS, gastrointestinal symptoms, and HRQOL, were used for evaluation at baseline and at three, six, and twelve months after education.</p> <p>Results</p> <p>Twelve IBS patients were included. The patients were overall satisfied with the IBS school. In line with this, the gastrointestinal symptoms, HRQOL, and perceived knowledge about IBS improved significantly after the education.</p> <p>Conclusion</p> <p>An IBS school seems to be a proper method to meet the patients' need of information about IBS and also to improve the patients' gastrointestinal symptoms, HRQOL, and knowledge about IBS. Further controlled studies are now needed in larger numbers of patients to confirm these preliminary results in order to implement this intervention in clinical practice.</p

    Gene expression in the rat brain: High similarity but unique differences between frontomedial-, temporal- and occipital cortex

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    <p>Abstract</p> <p>Background</p> <p>The six-layered neocortex of the mammalian brain may appear largely homologous, but is in reality a modular structure of anatomically and functionally distinct areas. However, global gene expression seems to be almost identical across the cerebral cortex and only a few genes have so far been reported to show regional enrichment in specific cortical areas.</p> <p>Results</p> <p>In the present study on adult rat brain, we have corroborated the strikingly similar gene expression among cortical areas. However, differential expression analysis has allowed for the identification of 30, 24 and 11 genes enriched in frontomedial -, temporal- or occipital cortex, respectively. A large proportion of these 65 genes appear to be involved in signal transduction, including the ion channel <it>Fxyd6</it>, the neuropeptide <it>Grp </it>and the nuclear receptor <it>Rorb</it>. We also find that the majority of these genes display increased expression levels around birth and show distinct preferences for certain cortical layers and cell types in rodents.</p> <p>Conclusions</p> <p>Since specific patterns of expression often are linked to equally specialised biological functions, we propose that these cortex sub-region enriched genes are important for proper functioning of the cortical regions in question.</p

    High-Order SNP Combinations Associated with Complex Diseases: Efficient Discovery, Statistical Power and Functional Interactions

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    There has been increased interest in discovering combinations of single-nucleotide polymorphisms (SNPs) that are strongly associated with a phenotype even if each SNP has little individual effect. Efficient approaches have been proposed for searching two-locus combinations from genome-wide datasets. However, for high-order combinations, existing methods either adopt a brute-force search which only handles a small number of SNPs (up to few hundreds), or use heuristic search that may miss informative combinations. In addition, existing approaches lack statistical power because of the use of statistics with high degrees-of-freedom and the huge number of hypotheses tested during combinatorial search. Due to these challenges, functional interactions in high-order combinations have not been systematically explored. We leverage discriminative-pattern-mining algorithms from the data-mining community to search for high-order combinations in case-control datasets. The substantially improved efficiency and scalability demonstrated on synthetic and real datasets with several thousands of SNPs allows the study of several important mathematical and statistical properties of SNP combinations with order as high as eleven. We further explore functional interactions in high-order combinations and reveal a general connection between the increase in discriminative power of a combination over its subsets and the functional coherence among the genes comprising the combination, supported by multiple datasets. Finally, we study several significant high-order combinations discovered from a lung-cancer dataset and a kidney-transplant-rejection dataset in detail to provide novel insights on the complex diseases. Interestingly, many of these associations involve combinations of common variations that occur in small fractions of population. Thus, our approach is an alternative methodology for exploring the genetics of rare diseases for which the current focus is on individually rare variations
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