437 resultados para spastic paralysis
Resumo:
The historic significance of the Good Friday Agreement and its role in ending organized political violence is acknowledged at the outset. The article then goes on to probe the roots of the political paralysis built into the architecture of the Agreement that are predicated on a misplaced political and cultural symmetry between the “two communities.” It is suggested that the institutionalized relationship between Northern Ireland and the rest of the U.K. facilitates a cross-party, populist, socio-economic consensus among the nationalist and unionist political parties on the welfare state, taxation and maintaining the massive British subvention to the region. This in turn allows them to concentrate on a divisive culturalist politics, i.e., on antagonistic forms of cultural and identity politics over such issues as flags, parades, and the legacy of the “Troubles” which spills over into gridlock into many areas of regional administration. The article argues for a much broader understanding of culture and identity rooted in the different, if overlapping and interdependent, material realities of both communities while challenging the idea of two cultures/identities as fixed, mutually exclusive, non-negotiable and mutually antagonistic. It then focuses on the importance of Belfast as a key arena which will determine the long-term prospects of an alternative and more constructive form of politics, and enable a fuller recognition of the fundamental asymmetries and inter-dependence between the “two communities.” In the long run, this involves re-defining and reconstructing what is meant by the “Union” and a “United Ireland.”
Resumo:
O presente estudo de investigação-ação partiu da necessidade de investigar e aprofundar a aprendizagem do mecanismo da leitura e da escrita numa criança com Paralisia Cerebral mediante a aplicação do software educativo “Comunicar com Símbolos”. O trabalho desenvolveu-se inicialmente num Centro Escolar de um Agrupamento de Escolas da zona centro do país, no distrito de Santarém, passando a realizar-se, após avaliação diagnóstica, numa Instituição Particular de Segurança Social - Centro de Deficientes Profundos da mesma região e analisa essencialmente o desenvolvimento da aprendizagem da leitura e da escrita numa criança com Paralisia Cerebral Espástica Bilateral com predomínio nos membros inferiores através da aplicação de dez sessões planificadas com base na utilização do software educativo Comunicar com Símbolos, da Cnotinfor – Imagina. Após a intervenção e a análise dos resultados, concluiu-se que o programa informático supramencionado apresenta vantagens significativas na consolidação da leitura e da escrita da criança com Paralisia Cerbral. Este trabalho de natureza interventiva não pretende, de forma alguma, dar respostas únicas na implementação de estratégias na melhoria do desenvolvimento do mecanismo da leitura e da escrita em crianças com Paralisia Cerebral, mas apenas contribuir para uma reflexão aprofundada sobre a importância da aplicação das tecnologias de apoio na prática pedagógica com crianças com Necessidades Educativas Especiais, no geral.
Resumo:
The dicistrovirus Israeli Acute Paralysis Virus (IAPV) has been implicated in the worldwide decline of honey bees. Studies of IAPV and many other bee viruses in pure culture are restricted by available isolates and permissive cell culture. Here we show that coupling the IAPV major structural precursor protein ORF2 to its cognate 3C-like processing enzyme results in processing of the precursor to the individual structural proteins in a number of insect cell lines following expression by a recombinant baculovirus. The efficiency of expression is influenced by the level of IAPV 3C protein and moderation of its activity is required for optimal expression. The mature IAPV structural proteins assembled into empty capsids that migrated as particles on sucrose velocity gradients and showed typical dicistrovirus like morphology when examined by electron microscopy. Monoclonal antibodies raised to recombinant capsids were configured into a diagnostic test specific for the presence of IAPV. Recombinant capsids for each of the many bee viruses within the picornavirus family may provide virus specific reagents for the on-going investigation of the causes of honeybee loss.
Resumo:
The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders that are clinically classified as either pure with predominant lower limb spasticity, or complex where spastic paraplegia is complicated with additional neurological features, and are inherited in autosomal dominant, autosomal recessive or X-linked patterns. Genetic defects have been identified in over 40 different genes, with more than 70 loci in total. Complex recessive spastic paraplegias have in the past been frequently associated with mutations in SPG11 (spatacsin), ZFYVE26/SPG15, SPG7 (paraplegin) and a handful of other rare genes, but many cases remain genetically undefined. The overlap with other neurodegenerative disorders has been implied in a small number of reports, but not in larger disease series. This deficiency has been largely due to the lack of suitable high throughput techniques to investigate the genetic basis of disease, but the recent availability of next generation sequencing can facilitate the identification of disease- causing mutations even in extremely heterogeneous disorders. We investigated a series of 97 index cases with complex spastic paraplegia referred to a tertiary referral neurology centre in London for diagnosis or management. The mean age of onset was 16 years (range 3 to 39). The SPG11 gene was first analysed, revealing homozygous or compound heterozygous mutations in 30/97 (30.9%) of probands, the largest SPG11 series reported to date, and by far the most common cause of complex spastic paraplegia in the UK, with severe and progressive clinical features and other neurological manifestations, linked with magnetic resonance imaging defects. Given the high frequency of SPG11 mutations, we studied the autophagic response to starvation in eight affected SPG11 cases and control fibroblast cell lines, but in our restricted study we did not observe correlations between disease status and autophagic or lysosomal markers. In the remaining cases, next generation sequencing was carried out revealing variants in a number of other known complex spastic paraplegia genes, including five in SPG7 (5/97), four in FA2H (also known as SPG35) (4/97) and two in ZFYVE26/SPG15. Variants were identified in genes usually associated with pure spastic paraplegia and also in the Parkinson’s disease-associated gene ATP13A2, neuronal ceroid lipofuscinosis gene TPP1 and the hereditary motor and sensory neuropathy DNMT1 gene, highlighting the genetic heterogeneity of spastic paraplegia. No plausible genetic cause was identified in 51% of probands, likely indicating the existence of as yet unidentified genes.
Resumo:
The etiology of idiopathic peripheral facial palsy (IPFP) is still uncertain; however, some authors suggest the possibility of a viral infection. Aim: to analyze the ultrastructure of the facial nerve seeking viral evidences that might provide etiological data. Material and Methods: We studied 20 patients with peripheral facial palsy (PFP), with moderate to severe FP, of both genders, between 18-60 years of age, from the Clinic of Facial Nerve Disorders. The patients were broken down into two groups - Study: eleven patients with IPFP and Control: nine patients with trauma or tumor-related PFP. The fragments were obtained from the facial nerve sheath or from fragments of its stumps - which would be discarded or sent to pathology exam during the facial nerve repair surgery. The removed tissue was fixed in 2% glutaraldehyde, and studied under Electronic Transmission Microscopy. Results: In the study group we observed an intense repair cellular activity by increased collagen fibers, fibroblasts containing developed organelles, free of viral particles. In the control group this repair activity was not evident, but no viral particles were observed. Conclusion: There were no viral particles, and there were evidences of intense activity of repair or viral infection.
Resumo:
SPOAN is an autosomal recessive neurodegenerative disorder which was recently characterized by our group in a large inbred Brazilian family with 25 affected individuals. This condition is clinically defined by: 1. congenital optic atrophy; 2. progressive spastic paraplegia with onset in infancy; and 3. progressive motor and sensory axonal neuropathy. Overall, we are now aware of 68 SPOAN patients (45 females and 23 males, with age ranging from 5 to 72 years), 44 of which are presented here for the first time. They were all born in the same geographic micro region. Those 68 patients belong to 43 sibships, 40 of which exhibit parental consanguinity. Sixty-one patients were fully clinically evaluated and 64 were included in the genetic investigation. All molecularly studied patients are homozygotes for D11S1889 at 11q13. This enabled us to reduce the critical region for the SPOAN gene from 4.8 to 2.3 Mb, with a maximum two point lod score of 33.2 (with marker D11S987) and of 27.0 (with marker D11S1889). Three genes located in this newly defined critical region were sequenced, but no pathogenic mutation was detected. The gene responsible for SPOAN remains elusive.
Resumo:
Tick paralysis (TP) is a rare disease with rapid progression and potential fatal evolution. Immediately after the diagnosis, removal of all ticks from the body of the patient is mandatory. The present study reports for the first time a human case of the disease in Brazil. The patient had loss of muscle strength, decreased reflexes and marked palpebral ptosis. Six hours after removal of the last tick, the ptosis improved and on the following day, the patient had near total regression of the symptoms. This report emphasizes the possible presence of similar cases that should be promptly diagnosed and quickly treated. A new induction pattern for TP in humans associated with immature stages of ticks is also presented.
Resumo:
The hypothyroidism is the most commonly endocrinopathy in dogs, that occurs preferentially in middle-aged pure breed. The clinical signs associated with hypothyroidism are variable, many times non-specific, including metabolical, dermatological or cardiovascular. The main laboratorial findings are non-regenerative anemia and hypercholesterolemia. Hyponatremia, increase on alanine transferase and alkaline phosphatase activity also can be observed in a lower frequency. There are some reports of peripheral neuropathies caused by hypothyroidism, but the pathophysiology of this process is still unknown. There are specific diagnostic tests that can be used to help diagnose hypothyroidism, and those should be aligned together with the animal's clinical symptoms. The thyroxine stimulating hormone, and free and total thyroxine concentrations are the most used tests. A Pit Bull dog, female, over weighted, was treated presenting left facial paralysis. Thyroid function tests confirmed hypothyroidism. The animal was treated with hormonal replacement and there was improvement in clinical signs in 40 days, confirming that hypothyroidism was facial paralysis' cause.