Screening of ARHSP-TCC Patients Expands the Spectrum of SPG11 Mutations and Includes a Large Scale Gene Deletion

Autosomal recessive spastic paraplegia with thinning of corpus callosum (ARHSP-TCC) is a complex form of HSP initially described in Japan but subsequently reported to have a worldwide distribution with a particular high frequency in multiple families from the Mediterranean basin. We recently showed that ARHSP-TCC is commonly associated with mutations in SPG11/KIAA1840 on chromosome 15q. We have now screened a collection of new patients mainly originating from Italy and Brazil, in order to further ascertain the spectrum of mutations in SPG11, enlarge the ethnic origin of SPG11 patients, determine the relative frequency at the level of single Countries (i.e., Italy), and establish whether there is one or more common mutation. In 25 index cases we identified 32 mutations; 22 are novel, including 9 nonsense, 3 small deletions, 4 insertions, 1 in/del, 1 small duplication, 1 missense, 2 splice-site, and for the first time a large genomic rearrangement. This brings the total number of SPG11 mutated patients in the SPATAX collection to 111 cases in 44 families and in 17 isolated cases, from 16 Countries, all assessed using homogeneous clinical criteria. While expanding the spectrum of mutations in SPG11, this larger series also corroborated the notion that even within apparently homogeneous population a molecular diagnosis cannot be achieved without full gene sequencing. (C) 2008 Wiley-Liss, Inc.

Does the neuromotor abnormality type affect the salivary parameters in individuals with cerebral palsy?

Background: Previous studies reported alterations in salivary flow rate and biochemical parameters of saliva in cerebral palsy (CP) individuals; however, none of these considered the type of neuromotor abnormality among CP individuals, thus it remains unclear whether the different anatomical and extended regions of the brain lesions responsible for the neurological damage in CP might include disruption of the regulatory mechanism of saliva secretion as part of the encephalopathy. The aim of this study was to evaluate salivary flow rate, pH and buffer capacity in saliva of individuals with CP, aged 3-16 years, with spastic neuromotor abnormality type and clinical patterns of involvement. Methods: Sixty-seven individuals with CP spasticity movement disorder, were divided in two groups according to age (3-8- and 9-16-years-old) and compared with 35 sibling volunteers with no neurological damage, divided in two groups according to age (3-8- and 9-16-years-old). Whole saliva was collected under slight suction and pH and buffer capacity were determined using a digital pHmeter. Buffer capacity was measured by titration using 0.01N HCL, and flow rate was calculated in ml/min. Results: In both age groups studied, whole saliva flow rate, pH and buffer capacity were significantly lower in the spastic CP group (P < 0.05). The clinical patterns of involvement did not influence the studied parameters. Conclusion: These findings show that individuals with spastic cerebral palsy present lower salivary flow rate, pH and buffer capacity that can increase the risk of oral disease in this population.

Efeitos de florações de cianobactérias sobre os cladóceros ceriodaphnia dubia e daphnia gessneri

Cyanobacterial blooms are common in eutrophic reservoirs in Brazilian northeastern semi-arid. Given this reality, the present study aimed to analyze the effect of potentially toxic cyanobacterial blooms in Gargalheiras reservoir (semi-arid) on the cladocerans Ceriodaphnia dubia and Daphnia gessneri. In vitro chronic bioassays were performed with reservoir water dilutions from August/2011 to May/2012 and the following effects were evaluated on: intrinsic rate of population growth (r), reproductive parameters (age of first reproduction and fecundity per capita) and cladocerans movements. Phytoplankton was dominated by Cylindrospermopsis raciborskii and Planktothrix agardhii and saxitoxin and microcystin were detected in reservoir water. In most months C. dubia showed differences in r between control (absence of cyanobacteria) and treatments, and has shown negative effects on reproductive parameters. In all months paralysis of swimming movements was observed in C. dubia when both C. raciborskii and saxitoxin (cyanotoxin neurotoxic) were present in water. While C. dubia was sensitive to the reservoir water containing cyanobacteria, D. gessneri showed less intense negative effects in r and reproductive parameters. Furthermore, D. gessneri showed no paralysis of swimming movements. These results support the hypothesis in the literature that D. gessneri is resistant to the Cylindrospermopsis effects. The clone‟s life history may be a key to understand the results. The C. dubia clone, isolated from eutrophicated environment, is in the lab for ten years and it is an exotic species in Brazil. D. gessneri is a common species in the country and this clone was isolated from the Gargalheiras reservoir (where there are constant blooms of potentially toxic cyanobacteria) a year ago. Perhaps the recent contact with cyanobacteria explain the higher resistance presented by this D. gessneri clone. In conclusion, the cladocerans studied have different levels of sensitivity to cyanobacteria, characterizing species-specific responses

Brucellosis due to Brucella suis in a swine herd associated with a human clinical case in the State of São Paulo, Brazil

Brucella suis has been recognized as the major etiological agent of human brucellosis in areas free from Brucella melitensis infection. However, with changes in swine management, the occurrence of swine brucellosis has decreased as has the human incidence of B. suis infection. A swine brucellosis outbreak within a herd from Jaboticabal (So Paulo, Brazil) was detected in July 2006. The herd comprised approximately 300 sows and 1,500 finishing animals. Many sows within this herd experienced abortions, while others exhibited vaginal discharge; three sows suffered posterior paralysis. Among 271 sows, 254 (93.7%) tested positive for brucellosis by complement fixation, and among 62 randomly bled finishing animals, 17 (27.4%) also tested positive. The B. suis biovar 1 was cultured from 14 aborted fetuses and six sows. Brucella was identified using routine methods. Fourteen farm workers were tested using agglutination tests, with three workers showing evidence of Brucella antibody titers. A 39-year-old woman, who worked with maternal pigs and had direct contact with aborted fetuses, presented an agglutinating titer of 480 IU/mL and displayed clinical signs of infection. Our findings suggest that despite a reduction of swine brucellosis throughout Brazil, B. suis infection still occurs, thereby posing a zoonotic risk.

Desenvolvimento de protótipo de cadeira de banho para indivíduos com paralisia cerebral tetraparética espástica

This study proposes to develop an equipment that attends the demands of tetraplegic people due to cerebral palsy and that promotes an adequate caregivers postural biomechanics during the shower activity of daily living. First, a bibliographic review was performed to define the terms refering to cerebral palsy, activity of daily living (specifically shower), and assistive technology, besides listing the wheelchairs made on the mainly national assistive technology companies. Therefore, this is a descriptive-exploratory study based on a literature review and on a based-field exploration research. On the field research a survey was adopted as a methodological procedure as it is related to a direct investigation related to a phenomenon, on the case, represented by the current shower situation of the people investigated in this study. Data were collected with the application of a form to the caregivers and consumers of the medical-therapeutic treatment and place used by the participants. Such form, which was made up of open and close questions, tried to identify, besides the personal data of evaluated users and consumers, the characteristics of the current shower activity, such as the place where it takes place in the house, the used equipmentS, in the case there is any, and how often it occurs. The form also was used to identify the caregivers and consumers desires and perceptions in relation to the present characteristics of the new dispositive besides the users and consumers anthropometric data. The evaluation of the results obtained through the form, together with the practice and clinical experience of the researchers and engineers involved in this study, made it possible to develop and make up a real shower chair prototype with the specific adjusts destined to adequate the equipment to be used according to the needs of each user and consumer

The surface electromyography analysis of the non-plegic upper limb of hemiplegic subjects

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Mechanisms for consideration for intervention in the development of organophosphorus-induced delayed neuropathy

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Efeitos imediatos da eletroestimulação nervosa transcutânea e crioterapia na espasticidade e na atividade eletromiográfica de sujeitos hemiparéticos

Cerebrovascular accident (CVA) is a term used to characterize an ischemic or hemorrhagic vascular injury, which has got as main clinic manifestations, the motor and reflex function disturbance. In the first stage there is flaccidity and loss of voluntary movements that afterwards is substituted by mass patterns and spasticity. The spasticity brings with itself functional deficits and can generate negative impacts in various motor patterns. The aim of this research was to investigate the hyperreflexia and identify the immediate effects of transcutaneous nervous stimulation (TENS) and cryotherapy in the spasticity and electromyographic activity of hemiparetic subjects. The study is characterized as an almost experimental type, in which were selected, to compose the sample, 16 patients of both sex with CVA sequel. These individuals were evaluated by collecting the amplitude peak to peak and H reflex latency, Motor response (M response) in solear muscle and the electromyography (EMG) of the injured and healthy legs anterior tibial muscles. In the injured limb the evaluations occurred in different days for cryotherapy, TENS and control, in two moments, before and after the interventions. The healthy limb was evaluated one single time to serve as baseline, for comparison with the injured limb. It was used an statistic analysis, the t paired student test to identify the H reflex differences, latency and EMG of the injured and healthy limbs and to compare the results before and after the recourses application. The ANOVA for related samples was used to identify the differences among the recourses used. It was attributed for the statistic tests a significance level of 5%. The amplitude peak to peak of normalized maximum H reflex through the maximum motor response (Hmax/Mmax), showed itself significantly increased in the injured limb (p=0.0245). The H reflex latency was presented reduced in the injured limb (p=0, 0375). The electromyographic activity was showed decreased in the injured limb (p< 0.0001). After the TENS there was a Hmáx/Mmáx ratio decrease (0.60±0.16 versus 0.49.±0.18; P = 0.0006). Nonetheless, Just after the cryotherapy application there was an increase of Hmáx/Mmáx ratio (0.58 ± 0,15 to 0.77 ± 0.13, P=0,0007) and increase of signal latency (30.41 ± 1.87 versus 33.24 ± 2.19; P=0.0001). The electromyographic activity wasn t altered significantly by any resource. It was met statistic significant differences when the Hmáx/Mmáx P<0.0001) ratio and H reflex latency (P<0.0001) were compared between the post TENS, cryotherapy and control. One can conclude that the TENS can be used to spasticity immediate reduction, and that the cryotherapy can increase the hyperreflexia state in spastic patients. Nonetheless, the spasticity decrease or increase didn t provoke lectromyographic activity change in the muscle that is opponent to the spastic one

Textura do recurso pedagógico e implicações em atividade de encaixe realizada por indivíduos com paralisia cerebral

O estudo teve o propósito de verificar a influência da textura do recurso pedagógico no tempo despendido e no índice de retidão para execução de uma atividade de encaixe realizada por indivíduos com paralisia cerebral. Participaram do estudo 6 alunos com sequelas de paralisia cerebral do tipo espástica, com idade entre 7 anos e 8 meses e 28 anos e 1 mês. O participante deveria segurar o objeto e levá-lo a um ponto demarcado previamente para o encaixe e, após, retorná-lo à posição inicial. O objeto foi apresentado nas texturas lisa, intermediária e áspera, de forma aleatória. Para a coleta de dados, foi utilizada filmagem para posterior leitura pelo programa Kavideo, que possibilitou cálculos para observar o tempo despendido na tarefa e o índice de retidão. Foi realizado o estudo da normalidade das distribuições, verificada por meio do teste de normalidade de Kolmogorov-Smirnov (Teste KS) e a comparação entre as texturas lisa, intermediária e áspera, no movimento de encaixe, por meio da análise de variância de medidas repetidas. Adotou-se para todos os testes nível de significância de 5% de probabilidade para a rejeição da hipótese de normalidade. O resultado do teste de análise de variância de medidas repetidas mostrou que não houve significância para as variáveis estudadas com o recurso apresentado nas três texturas. Porém, os dados da estatística descritiva mostraram que o encaixe do recurso com a textura lisa despendeu um menor tempo para execução da tarefa e, também, determinou um melhor desempenho com relação à trajetória do movimento.

Análise do equilíbrio estático e de deformidades nos pés de crianças com paralisia cerebral

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Influência do assento da cadeira adaptada na execução de uma tarefa de manuseio

Este estudo teve como objetivo verificar a influência da flexibilidade da superfície de assento da cadeira na velocidade e no tempo despendido por alunos com paralisia cerebral espástica durante a execução de uma tarefa de manuseio de um objeto na posição sentada. Participaram do estudo 11 alunos, de ambos os gêneros, com diagnóstico de paralisia cerebral espástica, que tinham algum controle de tronco e membros superiores. A quantificação da análise cinemática foi realizada em duas situações experimentais: 1) execução de uma tarefa acadêmica de encaixe, com o indivíduo posicionado em um mobiliário adaptado com assento de lona; 2) execução de uma tarefa acadêmica de encaixe, com o participante posicionado em um mobiliário adaptado com assento de madeira. Os dados obtidos foram submetidos à análise estatística descritiva e não-paramétrica por meio do teste de Wilcoxon. Os resultados indicaram que: 1) a velocidade média de execução das tarefas não foi influenciada pelo tipo de assento utilizado 2) o tempo de execução da tarefa foi influenciada pelo tipo de assento utilizado. A utilização do assento de lona aumentou o tempo de realização da tarefa. Conclui-se que o assento de um mobiliário escolar para um aluno com paralisia cerebral espástica não deve ser confeccionado com um material muito flexível. Este tipo de assento fornecerá uma base instável que dificultará o desempenho do aluno durante atividades realizadas com os membros superiores.

Tratamento médico e fonoaudiológico da disfonia espasmódica: uma revisão bibliográfica

A disfonia espasmódica (DE) é um distúrbio vocal caracterizado por voz tensa-estrangulada, com quebras de sonoridade e que compromete a comunicação do indivíduo. O objetivo deste estudo é apresentar uma revisão bibliográfica dos tratamentos médico e fonoaudiológico proposto para a DE no período entre 2006 e 2010. Os tratamentos descritos foram: injeção de toxina botulínica (TB), miectomia, neurectomia, denervação e reinervação laríngea seletiva adutora, tireoplastia, miotermia tiroaritenóidea com radiofrequência, injeção de lidocaína, homeopatia e tratamento fonoaudiológico (fonoterapia). O uso de injeção de TB mostrou resultados que indicaram a satisfação dos pacientes tratados, embora alguns dos artigos apontassem a necessidade de reaplicação da toxina frequentemente, como desvantagem. Os procedimentos cirúrgicos foram considerados duradouros e indicados para os pacientes que não quiseram se submeter às aplicações de TB. Tais estudos, no entanto, apresentaram contingência de pacientes restrita e os resultados foram baseados, na maioria das investigações, no julgamento dos próprios pacientes sobre a sua qualidade vocal. Os tratamentos, com uso de lidocaína e homeopatia, mostraram resultados positivos em relação à qualidade vocal dos pacientes e foram sugeridos como uma opção, também, para aqueles que não gostariam de ser submetidos ao tratamento cirúrgico ou à aplicação de TB. Os poucos estudos que reportam fonoterapia assinalaram bons resultados quando a mesma foi associada à injeção de TB, mostrando a escassez de informações nesta área. Futuras pesquisas envolvendo a fonoterapia no tratamento da DE são necessárias.

Quantitative comparison of mobility and gross motor function in Brazilian children with cerebral palsy

Background: Cerebral palsy (CP) presents changes in posture and movement as a core characteristic, which requires therapeutic monitoring during the habilitation or rehabilitation of children. Besides clinical treatment, it is fundamental that professionals use systems of evaluation to quantify the difficulties presented to the individual and assist in the organization of a therapeutic program. The aim of this study was to quantitatively verify the performance of children with spastic di-paresia type CP.Methods: The Pediatric Evaluation of Disability Inventory (PEDI) and Gross Motor Function Classification System (GMFM) tests were used and classification made through the GMFCS in the assessment of 7 patients with CP, 4 females and 3 males, average age of 9 years old.Results: According to GMFCS scales, 17% (n=1) were level II and 83% (n=6) were level III. The PEDI test and 88 GMFM items were used in the area of mobility. We observed that there was high correlation between mobility and gross motor function with Pearson's correlation coefficient =0.929) showing the likely impact of these areas in the functional skills and the quality of life of these patients.Conclusion: We suggest the impact of the limitation of the areas in functional skills and quality of life of these patients.

Efeitos de concentrações crescentes de lidocaína hiperbárica, administradas no espaço subaracnóideo, sobre a medula espinhal e as meninges: estudo experimental em cães

JUSTIFICATIVA E OBJETIVOS: Ainda não está bem estabelecida a concentração de lidocaína que é potencialmente capaz de determinar lesão no tecido nervoso. O objetivo desta pesquisa foi estudar os efeitos sobre a medula espinhal e as meninges, de concentrações crescentes de lidocaína administrada por via subaracnóidea, em injeção única através de agulha de Quincke. MÉTODO: Após a aprovação da Comissão de Ética em Experimentação Animal, 40 cães adultos foram anestesiados com fentanil e etomidato e submetidos a punção subaracnóidea com agulha de Quincke 22G 21/2 para introdução de 1 mL, em 10 segundos, de solução glicosada a 7,5% - Grupo 1; lidocaína a 5% em solução glicosada a 7,5% - Grupo 2; lidocaína a 7,5% em solução glicosada a 7,5% - Grupo 3; lidocaína a 10% em solução glicosada a 7,5% - Grupo 4. Após a recuperação da anestesia venosa, foram observados, no período em que os animais estavam em vigência do bloqueio subaracnóideo, a presença de bloqueio motor, o tônus do esfíncter anal (normal ou relaxado) e o nível de bloqueio sensitivo nos diferentes dermátomos das regiões cervical, torácica, lombar e sacral. Os animais permaneceram em cativeiro por 72 horas. Foram avaliados o tônus do esfíncter anal, a motricidade das patas posteriores, a sensibilidade dolorosa nas patas anteriores e posteriores e nos dermátomos sacrais, lombares e torácicos. Após serem sacrificados por eletrocussão sob anestesia, foram retiradas porções lombar e sacral da medula espinhal e das meninges para exame histológico por microscopia óptica. RESULTADOS: Nenhum animal dos Grupos 1 e 2 apresentou lesões clínicas ou histológicas. Três animais do Grupo 3 apresentaram alterações motoras nas patas posteriores e relaxamento do esfíncter anal. Nestes, foram observados focos de necrose na região posterior (dois cães) e necrose em faixa em toda a superfície medular (um cão). em um outro animal deste grupo, no qual foram notados focos de necrose, em área inferior a 5% do campo histológico não foram encontradas alterações clínicas. Sete animais do Grupo 4 apresentaram alterações clínicas (paralisia ou diminuição de força muscular nas patas posteriores, relaxamento do esfíncter anal) e histológicas (necrose na faixa da superfície medular ou focos de necrose de tecido nervoso). CONCLUSÕES: Neste estudo, a lidocaína em concentrações superiores a 7,5%, em injeção única, administrada no espaço subaracnóideo por meio de agulha de Quincke, determinou alterações histológicas sobre a medula espinhal, mas não sobre as meninges.

Double muscle innervation using end-to-side neurorrhaphy in rats

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)