807 resultados para People Living With Epilepsy


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The neural bases of altered consciousness in patients with epilepsy during seizures and at rest have raised significant interest in the last decade. This exponential growth has been supported by the parallel development of techniques and methods to investigate brain function noninvasively with unprecedented spatial and temporal resolution. In this article, we review the contribution of magnetoencephalography to deconvolve the bioelectrical changes associated with impaired consciousness during seizures. We use data collected from a patient with refractory absence seizures to discuss how spike-wave discharges are associated with perturbations in optimal connectivity within and between brain regions and discuss indirect evidence to suggest that this phenomenon might explain the cognitive deficits experienced during prolonged 3/s spike-wave discharges. © 2013 Elsevier Inc.

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Although the majority of people with epilepsy have a good prognosis and their seizures can be well controlled with pharmacotherapy, up to one-third of patients can develop drug-resistant epilepsy, especially those patients with partial seizures. This unmet need has driven considerable efforts over the last few decades aimed at developing and testing newer antiepileptic agents to improve seizure control. One of the most promising antiepileptic drugs of the new generation is zonisamide, a benzisoxazole derivative chemically unrelated to other anticonvulsant agents. In this article, the authors present the results of a systematic literature review summarizing the current evidence on the efficacy and tolerability of zonisamide for the treatment of partial seizures. Of particular interest within this updated review are the recent data on the use of zonisamide as monotherapy, as they might open new therapeutic avenues. © 2014 Springer Healthcare.

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Polycystic ovary syndrome affects 6  percent of women. Symptoms include hirsutism, acne, and infertility. This research explores the impact of polycystic ovary syndrome on women's lives using photovoice. Nine participants photographed objects related to their quality of life and made diary entries explaining each photograph. Three themes emerged from thematic analysis of the diaries: control (of symptoms and polycystic ovary syndrome controlling their lives), perception (of self, others, and their situation), and support (from relationships, health care systems, and education). These findings illuminate positive aspects of living with polycystic ovary syndrome and the role pets and social networking sites play in providing support for women with polycystic ovary syndrome.

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Purpose: SCN1A is the most clinically relevant epilepsy gene, most mutations lead to severe myoclonic epilepsy of infancy (SMEI) and generalized epilepsy with febrile seizures plus (GEFS+). We studied 132 patients with epilepsy syndromes with seizures precipitated by fever, and performed phenotype-genotype correlations with SCN1A alterations. Methods: We included patients with SMEI including borderline SMEI (SMEB), GEFS+, febrile seizures (FS), or other seizure types precipitated by fever. We performed a clinical and genetic study focusing on SCN1A, using dHPLC, gene sequencing, and MLPA to detect genomic deletions/duplications on SMEI/SMEB patients. Results: We classified patients as: SMEI/SMEB = 55; GEFS+ = 26; and other phenotypes = 51. SCN1A analysis by dHPLC/sequencing revealed 40 mutations in 37 SMEI/SMEB (67%) and 3 GEFS+ (11.5%) probands. MLPA showed genomic deletions in 2 of 18 SMEI/SMEB. Most mutations were de novo (82%). SMEB patients carrying mutations (8) were more likely to have missense mutations (62.5%), conversely SMEI patients (31) had more truncating, splice site or genomic alterations (64.5%). SMEI/SMEB with truncating, splice site or genomic alterations had a significantly earlier age of onset of FS compared to those with missense mutations and without mutations (p = 0.00007, ANOVA test). None of the remaining patients with seizures precipitated by fever carried SCN1A mutations. Conclusion: We obtained a frequency of 71% SCN1A abnormalities in SMEI/SMEB and of 11.5% in GEFS+ probands. MLPA complements DNA sequencing of SCN1A increasing the mutation detection rate. SMEI/SMEB with truncating, splice site or genomic alterations had a significantly earlier age of onset of FS. This study confirms the high sensitivity of SCN1A for SMEI/SMEB phenotypes. © 2007 International League Against Epilepsy.

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In the UK, 20% of people aged 75 years and over are living with sight loss and age-related macular degeneration (AMD) is the most common cause of sight loss in the UK, impacting nearly 10% of those over 80; regrettably, these figures are expected to increase in coming decades as the population ages (RNIB, 2012). This paper reports on the authors' design activities conducted for the purpose of informing the development of an assistive self-monitoring, ability-reactive technology (SMART) for older adults with AMD. The authors reflect on their experience of adopting and adapting the PICTIVE (Plastic Interface for Collaborative Technology Initiatives through Video Exploration) participatory design approach (Muller, 1992) to support effective design with and for their special needs user group, reflect on participants' views of being part of the process, and discuss the design themes identified via their PD activities.

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Myocardial infarction results in loss of cardiac muscle and deficiency in cardiac performance. Likewise, peripheral artery disease can result in critical limb ischemia leading to reduced mobility, non-healing ulcers, gangrene and amputation. Both of these common conditions diminish quality of life and enhance risk of mortality. Successful advances in treatment have led to more people surviving incidences of myocardial infarction or living with peripheral artery disease. However, the current treatments are inadequate in repairing ischemic tissue. Over the last 5 years, a vast number of patents have been submitted concerning the use of stem cells, which correlates with the exponential growth in stem cell publications. Exploiting stem cell therapy offers a real potential in replacing ischemic tissue with functional cells. In this paper, we review recent patents concerning stem cell therapy that have the potential to provide or potentiate novel treatment for ischemic cardiovascular disease. In addition, we evaluate the promise of the inventions by describing some clinical trials that are currently taking place, as well as considering how current research on ischemic cardiovascular disease may change the patent landscape in the future.

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Full text: There are phrases in daily use today which were not so common a decade or so back, such as ‘ageing population’ or ‘climate changes’ or ‘emerging markets’ or even ‘social networking’. How do these things affect our lives is certainly interesting but for us as eye care practitioners how these changes affect our clinical work may be also relevant and sometimes more interesting. A recent advertisement for recruitment to the Royal Marine Corps of the British Army ended with a comment ‘find us on Facebook!’ The BCLA, IACLE and other organisations as well as many manufacturers have their own Facebook groups. In 2011 Chandni Thakkar was awarded the BCLA summer studentship and her project was based around increasing the contact lens business of a small independent optometric practice where contact lens sales were minimal. The practice typically recruited one new wearer per month. Chandni was able to increase the number of new patient fits with various strategies (her work was presented as poster at the 2012 BCLA conference in Birmingham). One of her strategies was to start a Facebook group and 655 joined the special group she started in just over a month. Interestingly she found that the largest single factor in convincing patients to trial contact lenses was recommendation by the eye care practitioner at the end of the examination, but nonetheless it is interesting that so many people used the social networking site to find out more information regarding contact lenses in her study. Moreover, we already see the use, by some practitioners, of smart phone ‘apps’ or electronic diaries or text messages when coordinating patient check-ups. Climate change has affected the way we think and act; we now leave out special recycle bins and we hope that the items that are recyclable are actually recycled and do not just join our other refuse somewhere down the track! How environmentally friendly are contact lenses? This was discussed by various speakers at this year's BCLA conference in Birmingham. Daily disposable lenses surely produce more contact lens waste but do not involve solutions in plastic bottles like monthly lenses. It is certainly something that manufacturers are taking seriously and of course there are environmental benefits but the cynic in each of us sees the marketing potential too. The way the ageing population is certainly something that will impact all healthcare providers. In the case of eye care with people living longer they will need refractive corrections for longer. Furthermore, since presbyopes are not resigning themselves to only gentle hobbies like knitting and gardening, but instead want to continue playing tennis or skiing or whatever, their visual demands are becoming more complex. This is certainly an area that contact lens manufacturers are focussing on (pun not intended!). Again the BCLA conference in Birmingham saw the launch of various new products by different companies to help us deal with our presbyopic contact lens wearers. It is great to have such choice and now with fitting methods becoming easier too we have no excuse not to try them out with our clients. Finally to emerging markets – well there was not a specific session at the BCLA conference in May discussing this but this most certainly would have been discussed by professional services managers and marketing directors of most of the contact lens companies. ‘How will we conquer China?’ ‘How can we increase our market share in Russia?’ Or ‘How should we spend our marketing budget in India?’ These topics as well as others would certainly have cropped up in backroom discussions. Certainly groups like IACLE (International Association of CL Educators) have increasing numbers of members and activities in developing markets to ensure that educators educate, to that practitioners can practice successfully and in turn patients can become successful contact lenses wearers. Companies also wish to increase their market share in these developing markets and from the point of view of CLAE we are certainly seeing more papers being submitted from these parts of the world. The traditional centres of knowledge are being challenged, I suppose as they have been throughout history, and this can only be a good thing for the pursuit of science. The BCLA conference in Birmingham welcomed more international visitors than ever, and from more countries, and long may that continue. Similarly, CLAE looks forward to a wider audience in years to come and a wider network of authors too.

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Magnetoencephalographic (MEG) signals, like electroencephalographic (EEG) measures, are the direct extracranial manifestations of neuronal activation. The two techniques can detect time-varying changes in electromagnetic activity with a sub-millisecond time resolution. Extra-cranial electromagnetic measures are the cornerstone of the non-invasive diagnostic armamentarium in patients with epilepsy. Their extremely high temporal resolution – comparable to intracranial recordings – is the basis for a precise definition of onset and propagation of ictal and interictal abnormalities. Given the cost of the infrastructure and equipment, MEG has yet to develop into a routinely applicable diagnostic tool in clinical settings. However, in recent years, an increasing number of patients with epilepsy have been investigated – usually in the context of presurgical evaluation of refractory epilepsies – and initial encouraging results have been reported. We will briefly review the principles and the technology behind MEG and its contribution in the diagnostic work-up of patients with epilepsy.

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Bilateral Perisylvian Syndrome (BPS) often presents with epilepsy and significant behavioral impairments that can include mental retardation, dysarthria, delayed speech development, and delayed fine motor development (Graff-Radford et al., 1986 and Kuzniecky et al., 1993). While a small subset of BPS cases have been described as having relatively isolated language delays (Leventer et al., 2010), BPS is not expected in children with dyslexia. As part of a Medical University of South Carolina, IRB approved multi-site study involving retrospective and de-identified dyslexia data, we unexpectedly identified a 14.05 year old male with evidence of BPS whose father had been diagnosed with dyslexia and dysgraphia. This child had been recruited for a neuroimaging study on dyslexia from a school specializing in educating children with dyslexia. The T1-weighted MRI scan from this child demonstrated a highly unusual perisylvian sulcal/gyral patterning that is a defining feature of BPS (Fig. 1). BPS cases exhibit bilateral dysgenesis of the Sylvian fissure and surrounding gyri, which appears to occur because of a limited or absent arcuate fasciculus (Kilinc, Ekinci, Demirkol, & Agan, 2015). This BPS case also had a relatively enlarged atrium of the lateral ventricle that is consistent with the BPS anatomical presentation and reduction of parietal white matter (Graff-Radford et al., 1986, Kilinc et al., 2015 and Toldo et al., 2011).

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Globally, approximately 208 million people aged 15 and older used illicit drugs at least once in the last 12 months; 2 billion consumed alcohol and tobacco consumption affected 25% (World Drug Report, 2008). In the United States, 20.1 million (8.0%) people aged 12 and older were illicit drug users, 129 million (51.6%) abused alcohol and 70.9 million (28.4%) used tobacco (SAMHSA/OAS, 2008).Usually considered a problem specific to men (Lynch, 2002), 5.2% of pregnant women aged 15 to 44 are also illicit drug and substance abusers (SAMHSA/OAS, 2007). During pregnancy, illicit drugs and substance abuse (ID/SA) can significantly affect a woman and her infant contributing to developmental and communication delays for the infant and influencing parenting abilities (Budden, 1996; March of Dimes, 2006b; Rossetti, 2000). Feelings of guilt and shame and stressful experiences influence approaches to parenting (Ashley, Marsden, & Brady, 2003; Brazelton, & Greenspan, 2000; Ehrmin, 2000; Johnson, & Rosen, 1990; Kelley, 1998; Rossetti, 2000; Velez et al., 2004; Zickler, 1999). Parenthood is an expanded role that can be a trying time for those lacking a sense of self-efficacy and creates a high vulnerability to stress (Bandura, 1994). Residential treatment programs for ID/SA mothers and their children provide an excellent opportunity for effective interventions (Finkelstein, 1994; Social Care Institute for Excellence, 2005). This experimental study evaluated whether teaching American Sign Language (ASL) to mothers living with their infants/children at an ID/SA residential treatment program increased the mothers’ self-efficacy and decreased their anxiety. Quantitative data were collected using the General Self-Efficacy Scale and the State-Trait Anxiety Inventory showing there was both a significant increase in self efficacy and decrease in anxiety for the mothers. This research adds to the knowledge base concerning ID/SA mothers’ caring for their infants/children. By providing a simple low cost program, easily incorporated into existing rehabilitation curricula, the study helps educators and healthcare providers better understand the needs of the ID/SA mothers. This study supports Bandura’s theory that parents who are secure in their efficacy can navigate through the various phases of their child’s development and are less vulnerable to stress (Bandura, 1994).

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The primary objective of this proposal was to determine whether mitochondrial oxidative stress and variation in a particular mtDNA lineage contribute to the risk of developing cortical dysplasia and are potential contributing factors in epileptogenesis in children. The occurrence of epilepsy in children is highly associated with malformations of cortical development (MCD). It appears that MCD might arise from developmental errors due to environmental exposures in combination with inherited variation in response to environmental exposures and mitochondrial function. Therefore, it is postulated that variation in a particular mtDNA lineage of children contributes to the effects of mitochondrial DNA damage on MCD phenotype. Quantitative PCR and dot blot were used to examine mitochondrial oxidative damage and single nucleotide polymorphism (SNP) in the mitochondrial genome in brain tissue from 48 pediatric intractable epilepsy patients from Miami Children’s Hospital and 11 control samples from NICHD Brain and Tissue Bank for Developmental Disorders. Epilepsy patients showed higher mtDNA copy number compared to normal health subjects (controls). Oxidative mtDNA damage was lower in non-neoplastic but higher in neoplastic epilepsy patients compared to controls. There was a trend of lower mtDNA oxidative damage in the non-neoplastic (MCD) patients compared to controls, yet, the reverse was observed in neoplastic (MCD and Non-MCD) epilepsy patients. The presence of mtDNA SNP and haplogroups did not show any statistically significant relationships with epilepsy phenotypes. However, SNPs G9804A and G9952A were found in higher frequencies in epilepsy samples. Logistic regression analysis showed no relationship between mtDNA oxidative stress, mtDNA copy number, mitochondrial haplogroups and SNP variations with epilepsy in pediatric patients. The levels of mtDNA copy number and oxidative mtDNA damage and the SNPs G9952A and T10010C predicted neoplastic epilepsy, however, this was not significant due to a small sample size of pediatric subjects. Findings of this study indicate that an increase in mtDNA content may be compensatory mechanisms for defective mitochondria in intractable epilepsy and brain tumor. Further validation of these findings related to mitochondrial genotypes and mitochondrial dysfunction in pediatric epilepsy and MCD may lay the ground for the development of new therapies and prevention strategies during embryogenesis.

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In - Commuter Airlines: Their Changing Role – an essay by J. A. F. Nicholls, Transportation Coordinator, Department of Marketing and Environment, College of Business Administration, Florida International University, Nicholls initially observes: “The great majority of airline passenger miles flown in the United States are between large conurbations. People living in metropolitan areas may be quite unaware of commuter airlines and their role in our transportation system. These airlines are, however, communications lifelines for dwellers in small - and not so small - towns and rural areas. More germanely, commuter airlines have also developed a pivotal role vis-a-vis the major carriers in this country. The author discusses the antecedents of the commuter Airlines, their current role, and future prospects.” Huh; conurbations? Definition: [n.] a large urban area created when neighboring towns spread into and merge with each other In providing a brief history on the subject of commuter airlines, Nicholls states: “…there had been a sort of commuter airline as far back as 1926 when, for example, the Florida Airways Corporation provided flights between Jacksonville and Atlanta, Colonial Air Lines between New York and Boston, and Ford Air Transport from Detroit to Cleveland.” “The passage of the Civil Aeronautics Act in 1938 was pivotal in encouraging and developing a passenger orientation by the airlines…” Nicholls informs you. Nicholls provides for the importance of this act by saying: “The CAA was empowered to act “in the public interest and in accordance with the public convenience and necessity.” Only the CAA itself could determine what constituted the “public convenience and necessity.” Nobody, however, could provide air transportation for public purposes without a Certificate of Public Convenience and Necessity, dispensed by the CAA.” The author wants you to know that this all happens in the age of airline regulation; that is to say, pre de-regulation i.e. 1978. Airlines could not and did not act on their own behalf; their actions were governed by the regulating agency, that being the Civil Aeronautics Board [CAB], who administered the conditions set forth by the CAA. “In 1944 the CAB introduced a new category of service called feeder airlines to provide local service-short-haul, low density-for smaller communities. These carriers soon became known as air taxis since they operated as common carriers, without a regular schedule,” says Nicholls in describing the evolution of the service. In 1969 the CAB officially designated these small air carriers as commuter airlines. They were, and are subject to passenger limits and freight/weight restrictions. Nicholls continues by defining how air carriers are labeled and categorized post 1978; in the age of de-regulation.

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The dissertation documented the degree of Turkey's involvement in the promotion of democracy in the Arab Middle East (ME). Initially, I investigated why and under what conditions Turkey promotes democracy in the ME, and then I explained strategies through which Turkey promotes democracy in the region. I applied the neo-classical realist theoretical framework and a mixed methodology in the research, and I provided evidence from two sources: face-to-face interviews with the Turkish and foreign officials and common citizens, and the statistical data from institutions, such as the OECD, Turkish Statistical Institute, and World Bank.^ My research indicates that Turkey promotes democracy through seven channels. These channels are official development assistance (ODA), mentoring, demonstrative effect, normative pressure, conditionality, military power, enlargement, and civil society organizations. Turkey promotes democracy in the ME for three substantial reasons: first, to advance its security and economic interests; second, to improve the political, social, and economic conditions of people living in the region; and third, to create long-term regional stability, crucial for cooperation in economic and security realms.^ I attempted to engage in debates with two distinct, but interrelated fields of comparative politics and international relations. My most important contribution to the field is that I documented Turkey's case of democracy promotion regarding the degree of Turkey's involvement in this endeavor, its strategies, specificities, and effectiveness in the region. I also contribute to the field as I explained the difference between democracy promotion policies of a regional power, such as Turkey, and global powers, such as the US. I further engaged in discussions that illuminate some aspects of the interplay between the identity and strategic interests in states' foreign policy decisions.^

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Globally, approximately 208 million people aged 15 and older used illicit drugs at least once in the last 12 months; 2 billion consumed alcohol and tobacco consumption affected 25% (World Drug Report, 2008). In the United States, 20.1 million (8.0%) people aged 12 and older were illicit drug users, 129 million (51.6%) abused alcohol and 70.9 million (28.4%) used tobacco (SAMHSA/OAS, 2008).Usually considered a problem specific to men (Lynch, 2002), 5.2% of pregnant women aged 15 to 44 are also illicit drug and substance abusers (SAMHSA/OAS, 2007). During pregnancy, illicit drugs and substance abuse (ID/SA) can significantly affect a woman and her infant contributing to developmental and communication delays for the infant and influencing parenting abilities (Budden, 1996; March of Dimes, 2006b; Rossetti, 2000). Feelings of guilt and shame and stressful experiences influence approaches to parenting (Ashley, Marsden, & Brady, 2003; Brazelton, & Greenspan, 2000; Ehrmin, 2000; Johnson, & Rosen, 1990; Kelley, 1998; Rossetti, 2000; Velez et al., 2004; Zickler, 1999). Parenthood is an expanded role that can be a trying time for those lacking a sense of self-efficacy and creates a high vulnerability to stress (Bandura, 1994). Residential treatment programs for ID/SA mothers and their children provide an excellent opportunity for effective interventions (Finkelstein, 1994; Social Care Institute for Excellence, 2005). This experimental study evaluated whether teaching American Sign Language (ASL) to mothers living with their infants/children at an ID/SA residential treatment program increased the mothers’ self-efficacy and decreased their anxiety. Quantitative data were collected using the General Self-Efficacy Scale and the State-Trait Anxiety Inventory showing there was both a significant increase in self efficacy and decrease in anxiety for the mothers. This research adds to the knowledge base concerning ID/SA mothers’ caring for their infants/children. By providing a simple low cost program, easily incorporated into existing rehabilitation curricula, the study helps educators and healthcare providers better understand the needs of the ID/SA mothers. This study supports Bandura’s theory that parents who are secure in their efficacy can navigate through the various phases of their child’s development and are less vulnerable to stress (Bandura, 1994).

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Music and music education are present in the daily lives of people in different ways and in multiple contexts. In this study, we highlight the musical training in the orchestral context aiming to understand how learning music happens in the Symphony Orches tra of the Universidade Federal do Ri o Grande do Norte – OSUFRN. To achieve this goal, we identified all the activities, structure and functioning in OSUFRN; we have observed the development of activities of the group by checking the interactions among the participants of the orchestra and the different ways to learn music in that orchestral context. The research is based on discussions about collective musical practice, instrumen tal training in music education, the process of learning and the relationship between young people and music in the context of collective musical practice learning. Qualitative approach and case study were used as methodological procedures. Data collection was established by means of on - site observations, accompanying of the activities, rehearsals and performances of group and semi - structured interviews with the conductor and some participants with more time in the orchestra. We have also used photographs a nd footage that helped us in the procedure collection and construction of data. The analysis and interpretation of these data were enforced by Content Analysis featuring. It reveals the musical learning, through learning instances perceived in rehearsals, concerts, in living with the conductor and between musicians, teachers, employees and guest musicians, individually in travel and exchanges with other orchestral groups. In this way the activities developed by the group enable a comprehensive musical educa tion that guides to acquire autonomy in their learning and preparing them for future careers.