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OBJECTIVE: Serotonin (5-HT) is a pleiotropic molecule that exerts several functions on brain and peripheral tissues via different receptors. The gene for the 5-HT2A receptor shows some variations, including a T102C polymorphism, that have been associated with increased risk of neuropsychiatric and vascular disorders. However, the potential impact of 5-HT2A imbalance caused by genetic variations on the human lifespan has not yet been established. METHODS: We performed a prospective study involving an Amazon riparian elderly free-living population in Maués City, Brazil, with a 5-year follow-up. Out of a cohort of 637 subjects selected in July, 2009, we genotyped 471 individuals, including 209 males (44.4%) and 262 females (55.6%), all averaging 72.3 ± 7.8 years of age (ranging from 60 to 100 years). RESULTS: The T102C-SNP genotypic frequencies were 14.0% TT, 28.0% CC, and 58.0% CT. From 80 elderly individuals who died during the period investigated, we observed significantly (P = .005) higher numbers of TT carriers (27.3%) and CC carriers (21.2%), compared to heterozygous CT carriers (12.5%). Cox-regression analysis showed that association between the T102C-SNP and elderly survival was independent of age, sex, and other health variables. CONCLUSIONS: Our findings strongly suggest that imbalance in 5-HT2A may cause significant disturbances that lead to an increased susceptibility to death for individuals who are over 60 years of age.
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Mortalidade , Polimorfismo Genético , Receptor 5-HT2A de Serotonina/genética , Idoso , Idoso de 80 Anos ou mais , Brasil , Cidades , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Receptor 5-HT2A de Serotonina/metabolismo , RiscoRESUMO
Introduction: Significant evidence suggests that plasma-rich in growth factors (PRGF) favor the repair of chronic wounds, enabling a rapid return to functionality. However, components of PRGF and their effects on persistent ulcers and epithelial tissues are not well characterized. The goals of this research were to analyze the biological properties of platelet-derived factors, to examine their effectiveness on healing of venous ulcers, and to establish a correlation with clinical and sociodemographic data. Methods: For the preparation of PRGF, the centrifugation technique was used, obtaining a 100 % autologous and biocompatible blood sample that was treated with sodium citrate and calcium chloride. The patients were attended weekly at the outpatient clinic for nursing consultation and wound dressing changes, with PRGF application every 15 days. The treatment protocols are described, and follow-up results are reported. Results: Initially, the patients' ulcers ranged in sizes from 4 to 84 cm2. After 12 weeks of treatment, there was a significant mean reduction of 46.2 % in ulcer area. At baseline, epithelial tissue was absent in all venous ulcers, but its presence grew significantly by the treatment period. However, the reduction of the area of the ulcers did not show significant correlation with the concentrations of the patient's growth factors. Conclusions: Using the established protocol for PRGF isolating, it was possible to obtain a product with the presence of the six growth factors related to tissue regeneration and observed a positive response on wound healing following treatment of venous ulcers, with capacity to accelerate re-epithelialization and restore the skin functional integrity.
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The development of diabetic foot ulcers is a common and severe complication of diabetes that can significantly affect quality of life. The physiological healing cascade does not progress tissue repair in diabetic foot ulcerations in a timely manner. Serum markers from foot ulcers have been used to characterize the healing process of the diabetic foot using various collection techniques. This study aimed to compare the use of cervical brushes and the Levine technique to collect wound fluid from foot ulcers of people with diabetes in order to determine the presence of cytokines. The collected material was used for gene expression analysis of macrophage/monocyte-associated cytokines IL1-ß, IL-6, TNF-α, regulatory cytokine IL-10 and growth factor TGFß, via quantitative polymerase chain reaction (qPCR). Both collection methods produced sufficient amounts of RNA, but significantly more RNA was collected using a cervical brush (brush 224.82 ng/µL vs. Levine 80.90 ng/µL p = 0.0001). Significantly higher levels of expression of the following cytokine genes were detected in samples collected using a cervical brush: IL1-ß (p = 0.0001), IL-6 (p = 0.0106), IL-10 (p = 0.0277) and TGFß (p = 0.0002). Understanding why some wounds are difficult to heal is important for developing more effective treatments, and biomarkers may be useful for predicting the healing trajectory. These results demonstrate that it is possible to collect material from the wound bed for RT-qPCR analysis, and the cervical brush proved to be a simple and rapid method for monitoring cytokine gene expression.
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Spinocerebellar ataxia type 3, also called Machado-Joseph disease (MJD), is an hereditary autosomal dominant neurodegenerative disease that affects the cerebellum and its afferent and efferent connections. Since the mechanism by which mutant ataxin-3 eventually leads to neuronal death is poorly understood, additional investigations to clarify the biological alterations related to Machado-Joseph disease are necessary. Recent investigations suggest that oxidative stress may contribute significantly to Machado-Joseph disease. We compared markers of oxidative stress between Machado-Joseph disease and healthy control subjects. The results showed that Machado-Joseph patients have higher catalase levels and lower thiol protein levels compared to control subjects. The peripheral blood lymphocyes of MJD patients also showed higher levels of DNA damage by the comet assay than control subjects. Our results corroborate the hypothesis that the oxidative stress is associated with MJD patients. However, whether strategies to increase cellular antioxidative capacity may be effective therapies for the treatment of Machado-Joseph disease is an open question.
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Catalase/sangue , Linfócitos/enzimologia , Doença de Machado-Joseph/sangue , Estresse Oxidativo , Adulto , Biomarcadores/sangue , Estudos de Casos e Controles , Feminino , Humanos , Linfócitos/patologia , Doença de Machado-Joseph/genética , Doença de Machado-Joseph/patologia , Masculino , Pessoa de Meia-IdadeRESUMO
Obesity is considered a chronic low-grade inflammatory state associated with a chronic oxidative stress caused by superoxide production (O(2)(-)). The superoxide dismutase manganese dependent (SOD2) catalyzes O(2)(-) in H(2)O(2) into mitochondria and is encoded by a single gene that presents a common polymorphism that results in the replacement of alanine (A) with a valine (V) in the 16 codon. This polymorphism has been implicated in a decreased efficiency of SOD2 transport into targeted mitochondria in V allele carriers. Previous studies described an association between VV genotype and metabolic diseases, including obesity and diabetes. However, the causal mechanisms to explain this association need to be more elucidated. We postulated that the polymorphism could influence the inflammatory response. To test our hypothesis, we evaluated the in vitro cytokines production by human peripheral blood mononuclear cells (PBMCs) carrier's different Ala16Val-SOD2 genotypes (IL-1, IL-6, IL-10, TNF-α, IFN-γ). Additionally, we evaluated if the culture medium glucose, enriched insulin, could influence the cytokine production. Higher levels of proinflammatory cytokines were observed in VV-PBMCs when compared to AA-PBMCs. However, the culture medium glucose and enriched insulin did not affect cytokine production. The results suggest that Ala16Val-SOD2 gene polymorphism could trigger the PBMCs proinflammatory cytokines level. However, discerning if a similar mechanism occurs in fat cells is an open question.
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Substituição de Aminoácidos , Citocinas/sangue , Leucócitos Mononucleares/metabolismo , Polimorfismo Genético , Superóxido Dismutase/genética , Alanina/genética , Células Cultivadas , Meios de Cultura/farmacologia , Ensaio de Imunoadsorção Enzimática , Genótipo , Glucose/farmacologia , Humanos , Inflamação/sangue , Mediadores da Inflamação/sangue , Insulina/farmacologia , Interferon gama/sangue , Interleucina-1/sangue , Interleucina-10/sangue , Interleucina-6/sangue , Leucócitos Mononucleares/citologia , Leucócitos Mononucleares/efeitos dos fármacos , Fator de Necrose Tumoral alfa/sangue , Valina/genéticaRESUMO
BACKGROUND: Oxidative stress and chronic inflammatory states triggered by a single-nucleotide polymorphism (SNP) in superoxide dismutase manganese-dependent gene (Val16Ala-SOD2) have been associated with the risk of developing several chronic, nontransmissible diseases. However, it is still not clear whether the VV-SOD2 genotype that causes higher basal superoxide anion levels has any impact on the risk for depression and self-reported psychological stress in elderly people. METHODS: In the present study, we tested this hypothesis using a case-control study where depression was detected using the Geriatric Depression Scale-15 (GDS-15). A total of 612 Brazilian free-living elderly subjects with a mean age of 67.1 ± 7.1 years old (number of controls, C = 497, and depressive individuals, D = 115) were included in this study. All participants had similar social, health, and lifestyle variables, with the exception of polypharmacy (≥5 medicines daily intake), which was higher in the D group, compared to C subjects. RESULTS: Our results showed that the VV-SOD2 genotype significantly increased the risk for depression and psychological stress in the elderly subjects, independently of sex/gender, age, and other prior diseases and health indicators (depression risk = 1.842, 1.109-3.061 95% CI, p = .018). VV-subjects also had a higher daily intake of antidepressants, anxiolytics, and anti-inflammatory drugs than A-allele subjects. CONCLUSION: Our findings support the hypothesis that genetically induced oxidative superoxide-hydrogen peroxide imbalance may be involved in an increased risk for developing depression and psychological stress in free-living elderly people without other chronic nontransmissible diseases.
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Depressão/genética , Polimorfismo de Nucleotídeo Único , Estresse Psicológico/genética , Superóxido Dismutase/genética , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Vida Independente , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Estresse Oxidativo , Superóxidos/metabolismoRESUMO
Methotrexate (MTX) is a folic acid antagonist used in high doses as an anti-cancer treatment and in low doses for the treatment of some autoimmune diseases. MTX use has been linked to oxidative imbalance, which may cause multi-organ toxicities that can be attenuated by antioxidant supplementation. Despite the oxidative effect of MTX, the influence of antioxidant gene polymorphisms on MTX toxicity is not well studied. Therefore, we analyzed here whether a genetic imbalance of the manganese-dependent superoxide dismutase (SOD2) gene could have some impact on the MTX cytotoxic response. An in vitro study using human peripheral blood mononuclear cells (PBMCs) obtained from carriers with different Ala16Val-SOD2 genotypes (AA, VV and AV) was carried out, and the effect on cell viability and proliferation was analyzed, as well as the effect on oxidative, inflammatory and apoptotic markers. AA-PBMCs that present higher SOD2 efficiencies were more resistance to high MTX doses (10 and 100 µM) than were the VV and AV genotypes. Both lipoperoxidation and ROS levels increased significantly in PBMCs exposed to MTX independent of Ala16Val-SOD2 genotypes, whereas increased protein carbonylation was observed only in PBMCs from V allele carriers. The AA-PBMCs exposed to MTX showed decreasing SOD2 activity, but a concomitant up regulation of the SOD2 gene was observed. A significant increase in glutathione peroxidase (GPX) levels was observed in all PBMCs exposed to MTX. However, this effect was more intense in AA-PBMCs. Caspase-8 and -3 levels were increased in cells exposed to MTX, but the modulation of these genes, as well as that of the Bax and Bcl-2 genes involved in the apoptosis pathway, presented a modulation that was dependent on the SOD2 genotype. MTX at a concentration of 10 µM also increased inflammatory cytokines (IL-1ß, IL-6, TNFα and Igγ) and decreased the level of IL-10 anti-inflammatory cytokine, independent of SOD2 genetic background. The results suggest that potential pharmacogenetic effect on the cytotoxic response to MTX due differential redox status of cells carriers different SOD2 genotypes.
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Metotrexato/farmacologia , Polimorfismo de Nucleotídeo Único , Superóxido Dismutase/genética , Antioxidantes/metabolismo , Caspases/genética , Caspases/metabolismo , Citocinas/biossíntese , Relação Dose-Resposta a Droga , Fluoresceínas/metabolismo , Regulação Enzimológica da Expressão Gênica/efeitos dos fármacos , Regulação Enzimológica da Expressão Gênica/genética , Humanos , Peroxidação de Lipídeos/efeitos dos fármacos , Peroxidação de Lipídeos/genética , Carbonilação Proteica/efeitos dos fármacos , Carbonilação Proteica/genética , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Espécies Reativas de Oxigênio/metabolismoRESUMO
Mental retardation (MR) is a definition which comprises a series of conditions whose common feature is an intellectual handicap that develops before the age of 18, afflicting 2-3% of the world's population. The classification of MR into different categories is determined by the extent of the handicap instead of its cause, which often remains unrecognized. Sometimes, MR runs in a family, characterizing familial MR, and those cases permit an in-depth look into the genetic causes and consequences of the problem. However, almost no work is available on the prevalence of familial MR among the registered MR cases, possibly because familial MR is a term with no clear definition. The scope of this work is to review the topic and discuss the implications of different genetic and environmental factors, which characterize particular categories of familial cases, suggesting a practical classification of familial MR, which is important for epidemiologic studies and also for counseling in the clinic. Some of the aspects are discussed under the perspective of a newly-developed country like Brazil.
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Deficiência Intelectual/classificação , Deficiência Intelectual/genética , Humanos , LinhagemRESUMO
Autosomal dominant spinocerebellar ataxias (SCAs) are a complex group of debilitating and neurodegenerative diseases that affect the cerebellum and its main connections and characterized by a generalized incoordination of gait, speech, and limb movements. In general, the onset of SCAs occurs during adult life and shows great clinical heterogeneity. Currently, the mutations responsible for different types of SCAs have been localized in different regions of the genome, and most of them were already mapped and cloned. Several pieces of evidence suggest that all these diseases share the same molecular mechanism and physiopathological processes. CAG trinucleotide expansion is a common mutational basis of several of these disorders. An expanded polyglutamine tract may become a toxic product when located within the coding region of the gene. The SCA genes, recent patents and the molecular aspects of these disorders are presented in this review. Our knowledge of the molecular mechanisms of SCAs is rapidly expanding, and the development of important studies is bringing hope for effective therapies.
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Patentes como Assunto , Ataxias Espinocerebelares/genética , Expansão das Repetições de Trinucleotídeos/genética , Adulto , Ataxina-1 , Ataxina-7 , Ataxinas , Canais de Cálcio/genética , Canais de Cálcio/metabolismo , Humanos , Proteínas Mutantes/genética , Proteínas Mutantes/metabolismo , Proteínas do Tecido Nervoso/genética , Proteínas do Tecido Nervoso/metabolismo , Proteínas Nucleares/genética , Proteínas Nucleares/metabolismo , Peptídeos/genética , Peptídeos/metabolismo , RNA Longo não Codificante/genética , RNA Longo não Codificante/metabolismoRESUMO
INTRODUCTION: This study aimed to evaluate the effect of the neural mobilization technique on electromyography function, disability degree, and pain in patients with leprosy. METHODS: A sample of 56 individuals with leprosy was randomized into an experimental group, composed of 29 individuals undergoing treatment with neural mobilization, and a control group of 27 individuals who underwent conventional treatment. In both groups, the lesions in the lower limbs were treated. In the treatment with neural mobilization, the procedure used was mobilization of the lumbosacral roots and sciatic nerve biased to the peroneal nerve that innervates the anterior tibial muscle, which was evaluated in the electromyography. RESULTS: Analysis of the electromyography function showed a significant increase (p<0.05) in the experimental group in both the right (Δ%=22.1, p=0.013) and the left anterior tibial muscles (Δ%=27.7, p=0.009), compared with the control group pre- and post-test. Analysis of the strength both in the movement of horizontal extension (Δ%right=11.7, p=0.003/Δ%left=27.4, p=0.002) and in the movement of back flexion (Δ%right=31.1; p=0.000/Δ%left=34.7, p=0.000) showed a significant increase (p<0.05) in both the right and the left segments when comparing the experimental group pre- and post-test. The experimental group showed a significant reduction (p=0.000) in pain perception and disability degree when the pre- and post-test were compared and when compared with the control group in the post-test. CONCLUSIONS: Leprosy patients undergoing the technique of neural mobilization had an improvement in electromyography function and muscle strength, reducing disability degree and pain.
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Hanseníase/terapia , Modalidades de Fisioterapia , Estudos de Casos e Controles , Avaliação da Deficiência , Eletromiografia , Humanos , Hanseníase/fisiopatologia , Medição da Dor , Amplitude de Movimento Articular/fisiologia , Índice de Gravidade de Doença , Resultado do TratamentoRESUMO
INTRODUCTION: This study evaluated the degree of disability, pain levels, muscle strength, and electromyographic function (RMS) in individuals with leprosy. METHODS: We assessed 29 individuals with leprosy showing common peroneal nerve damage and grade 1 or 2 disability who were referred for physiotherapeutic treatment, as well as a control group of 19 healthy participants without leprosy. All subjects underwent analyses of degree of disability, electromyographic tests, voluntary muscle force, and the Visual Analog Pain Scale. RESULTS: McNemar's test found higher levels of grade 2 of disability (Δ = 75.9%; p = 0.0001) among individuals with leprosy. The Mann-Whitney test showed greater pain levels (Δ = 5.0; p = 0.0001) in patients with leprosy who had less extension strength in the right and left extensor hallucis longus muscles (Δ = 1.28, p = 0.0001; Δ = 1.55, p = 0.0001, respectively) and dorsiflexion of the right and left feet (Δ = 1.24, p = 0.0001; Δ = 1.45, p = 0.0001, respectively) than control subjects. The Kruskal-Wallis test showed that the RMS score for dorsiflexion of the right (Δ = 181.66 m·s-2, p = 0.001) and left (Δ = 102.57m·s-2, p = 0.002) feet was lower in patients with leprosy than in control subjects, but intragroup comparisons showed no difference. CONCLUSIONS: Leprosy had a negative influence on all of the study variables, indicating the need for immediate physiotherapeutic intervention in individuals with leprosy. This investigation opens perspectives for future studies that analyze leprosy treatment with physical therapeutic intervention.
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Avaliação da Deficiência , Hanseníase/fisiopatologia , Força Muscular/fisiologia , Nervo Fibular/fisiopatologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Eletromiografia , Feminino , Humanos , Hanseníase/patologia , Masculino , Pessoa de Meia-Idade , Medição da Dor , Nervo Fibular/patologia , Índice de Gravidade de Doença , Adulto JovemRESUMO
Mental retardation (MR) is a definition which comprises a series of conditions whose common feature is an intellectual handicap that develops before the age of 18, afflicting 2-3% of the world's population. The classification of MR into different categories is determined by the extent of the handicap instead of its cause, which often remains unrecognized. Sometimes, MR runs in a family, characterizing familial MR, and those cases permit an in-depth look into the genetic causes and consequences of the problem. However, almost no work is available on the prevalence of familial MR among the registered MR cases, possibly because familial MR is a term with no clear definition. The scope of this work is to review the topic and discuss the implications of different genetic and environmental factors, which characterize particular categories of familial cases, suggesting a practical classification of familial MR, which is important for epidemiologic studies and also for counseling in the clinic. Some of the aspects are discussed under the perspective of a newly-developed country like Brazil.
Retardo mental (RM) é uma definição que compreende uma série de condições cuja característica em comum é um déficit intelectual que se desenvolve antes dos 18 anos, afetando 2-3% da população mundial. A classificação do RM em diferentes categorias é determinada pela gravidade do déficit ao invés de sua causa, que com frequência permanece obscura. O RM pode segregar na família, caracterizando RM familiar, e estes casos permitem um olhar mais aprofundado para as causas genéticas e as consequências do problema. Porém, praticamente não existem dados disponíveis sobre a prevalência do RM familiar dentre os casos registrados, possivelmente por ser um termo sem definição clara. O presente trabalho objetiva rever o tópico e discutir as implicações de diferentes fatores genéticos e ambientais que caracterizam categorias particulares de casos familiares, sugerindo uma classificação prática para o RM familiar, importante para estudos epidemiológicos e também na clínica, para aconselhamento. Alguns dos aspectos são discutidos na perspectiva de um país emergente, como o Brasil.
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Humanos , Deficiência Intelectual/classificação , Deficiência Intelectual/genética , LinhagemRESUMO
INTRODUCTION: This study aimed to evaluate the effect of the neural mobilization technique on electromyography function, disability degree, and pain in patients with leprosy. METHODS: A sample of 56 individuals with leprosy was randomized into an experimental group, composed of 29 individuals undergoing treatment with neural mobilization, and a control group of 27 individuals who underwent conventional treatment. In both groups, the lesions in the lower limbs were treated. In the treatment with neural mobilization, the procedure used was mobilization of the lumbosacral roots and sciatic nerve biased to the peroneal nerve that innervates the anterior tibial muscle, which was evaluated in the electromyography. RESULTS: Analysis of the electromyography function showed a significant increase (p<0.05) in the experimental group in both the right (Δ percent=22.1, p=0.013) and the left anterior tibial muscles (Δ percent=27.7, p=0.009), compared with the control group pre- and post-test. Analysis of the strength both in the movement of horizontal extension (Δ percentright=11.7, p=0.003/Δ percentleft=27.4, p=0.002) and in the movement of back flexion (Δ percentright=31.1; p=0.000/Δ percentleft=34.7, p=0.000) showed a significant increase (p<0.05) in both the right and the left segments when comparing the experimental group pre- and post-test. The experimental group showed a significant reduction (p=0.000) in pain perception and disability degree when the pre- and post-test were compared and when compared with the control group in the post-test. CONCLUSIONS: Leprosy patients undergoing the technique of neural mobilization had an improvement in electromyography function and muscle strength, reducing disability degree and pain.
INTRODUÇÃO: Este estudo tem como objetivo avaliar o efeito da técnica de mobilização neural sobre a função eletromiográfica, grau de incapacidade e dor em portadores de hanseníase. MÉTODOS: A amostra de 56 indivíduos portadores de hanseníase foi randomizada em: grupo experimental composto por 29 indivíduos submetidos ao tratamento com mobilização neural e grupo controle composto por 27 indivíduos submetidos ao tratamento convencional. Em ambos os grupos, foram tratadas as lesões nos membros inferiores. No tratamento com mobilização neural, o procedimento utilizado foi a mobilização das raízes lombossacrais e do nervo isquiático com viés para o nervo fibular, que inerva o músculo tibial anterior, o qual foi avaliado na eletromiografia. RESULTADOS: Ao analisar a função eletromiográfica, observou-se aumento significativo (p<0,05) no grupo experimental em ambos os músculos tibiais anteriores, direito (∆ por cento=22,1; p=0,01) e esquerdo (∆ por cento=27,7; p=0,009), comparado ao grupo controle no pré e pós teste. Ao analisar a força no movimento de extensão horizontal (∆ por centodir=11,7; p=0,003/∆ por cento esq=27,4; p=0,002) e no movimento de dorso flexão (∆ por cento dir=31,1; p=0,000/∆ por cento esq=34,7; p=0,000), observou-se aumento significativo (p<0,05) em ambos os segmentos direito e esquerdo ao comparar o grupo experimental no pré e pós teste. O grupo experimental apresentou redução significativa (p=0,000) na percepção de dor e no grau de incapacidade ao comparar o pré e pós teste e na comparação com o grupo controle no pós teste. CONCLUSÕES: Pacientes submetidos à técnica de mobilização neural obtiveram melhora na função eletromiográfica e nos níveis de força muscular reduzindo o grau de incapacidade e dor.
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Humanos , Hanseníase/terapia , Modalidades de Fisioterapia , Estudos de Casos e Controles , Avaliação da Deficiência , Eletromiografia , Hanseníase/fisiopatologia , Medição da Dor , Amplitude de Movimento Articular/fisiologia , Índice de Gravidade de Doença , Resultado do TratamentoRESUMO
INTRODUCTION: This study evaluated the degree of disability, pain levels, muscle strength, and electromyographic function (RMS) in individuals with leprosy. METHODS: We assessed 29 individuals with leprosy showing common peroneal nerve damage and grade 1 or 2 disability who were referred for physiotherapeutic treatment, as well as a control group of 19 healthy participants without leprosy. All subjects underwent analyses of degree of disability, electromyographic tests, voluntary muscle force, and the Visual Analog Pain Scale. RESULTS: McNemar's test found higher levels of grade 2 of disability (Δ = 75.9%; p = 0.0001) among individuals with leprosy. The Mann-Whitney test showed greater pain levels (Δ = 5.0; p = 0.0001) in patients with leprosy who had less extension strength in the right and left extensor hallucis longus muscles (Δ = 1.28, p = 0.0001; Δ = 1.55, p = 0.0001, respectively) and dorsiflexion of the right and left feet (Δ = 1.24, p = 0.0001; Δ = 1.45, p = 0.0001, respectively) than control subjects. The Kruskal-Wallis test showed that the RMS score for dorsiflexion of the right (Δ = 181.66 m·s-2, p = 0.001) and left (Δ = 102.57m·s-2, p = 0.002) feet was lower in patients with leprosy than in control subjects, but intragroup comparisons showed no difference. CONCLUSIONS: Leprosy had a negative influence on all of the study variables, indicating the need for immediate physiotherapeutic intervention in individuals with leprosy. This investigation opens perspectives for future studies that analyze leprosy treatment with physical therapeutic intervention.
INTRODUÇÃO: O objetivo do estudo foi avaliar o grau de incapacidade, níveis de dor, força muscular e a função eletromiográfica (RMS) em indivíduos portadores de hanseníase. MÉTODOS: A amostra foi composta de um grupo de 29 sujeitos portadores de hanseníase, apresentando lesão do nervo fibular comum e grau 1 ou 2 de incapacidade, com indicação ao tratamento fisioterapêutico, e um grupo controle de 19 indivíduos saudáveis, sem hanseníase. Os sujeitos foram submetidos à análise do grau de incapacidade, testes de eletromiografia, de força muscular voluntária e da Escala Visual Analógica (EVA) para a dor. RESULTADOS: O teste de McNemar mostrou maior prevalência do grau dois de incapacidade (Δ=75,9%; p=0,0001) entre os indivíduos com hanseníase. O teste de Mann-Whitney revelou maiores níveis de dor (Δ=5,0; p=0,0001) nos pacientes com hanseníase apresentando menores níveis de força muscular da extensão do hálux direito e esquerdo (Δ=1,28, p=0,0001; Δ=1,55, p=0,0001) e flexão dorsal do pé direito e esquerdo (Δ=1,24, p=0,0001; Δ=1,45, p=0,0001) do que os indivíduos sem hanseníase. O teste de Kruskal-Wallis revelou que os valores do RMS da flexão dorsal dos pés direito (Δ=181,66m.s-², p=0,001) e esquerdo (Δ=102,57m.s-2, p=0,002) apresentaram menores valores que o grupo controle em ambos os lados, mas as comparações intragrupos não mostraram diferenças. CONCLUSÕES: Conclui-se que a hanseníase altera todas as variáveis analisadas na pesquisa, indicando a necessidade de intervenção fisioterapêutica imediata nos sujeitos com Hanseníase. Esta investigação abre perspectivas de futuras pesquisas que analisem o tratamento da hanseníase com intervenção fisioterapêutica.
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Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Avaliação da Deficiência , Hanseníase/fisiopatologia , Força Muscular/fisiologia , Nervo Fibular/fisiopatologia , Estudos de Casos e Controles , Eletromiografia , Hanseníase/patologia , Medição da Dor , Nervo Fibular/patologia , Índice de Gravidade de DoençaRESUMO
Objetivo: Fornecer uma revisão atualizada em língua portuguesa sobre a síndrome de Angelman, com ênfase nos mecanismos genéticos e moleculares dessa patologia, uma causa de deficiência mental severa que em alguns casos pode apresentar recorrência familiar. Método: Foi feita uma revisão bibliográfica utilizando a base de dados do PubMed, tendo como critérios de busca o termo "Angelman syndrome" isoladamente e combinado com "UBE3A", "clinical", "genetics" e "molecular" no título dos artigos. Dentre esses, foram selecionados artigos de revisão e artigos originais sobre a fisiopatologia da síndrome, com ênfase nos últimos dez anos. Resultados: Utilizando-se "Angelman syndrome" na busca, apareceram cerca de 1.100 artigos, incluindo 240 de revisão. Nos últimos dez anos são mais de 600 artigos, aproximadamente 120 de revisão, 50 por cento dos quais publicados nos últimos cinco anos. Na base de dados SciELO, são apenas nove artigos sobre a síndrome, dos quais três em português e nenhum artigo atual de revisão. Conclusão: Após ter sido uma das principais causas que atraíram atenção ao estudo e ao entendimento dos mecanismos do imprinting genômico, a síndrome de Angelman está agora se revelando como uma patologia das sinapses. Apesar de o entendimento da fisiopatologia molecular da síndrome de Angelman ainda estar longe de ser compreendida, seu estudo está fornecendo uma visão extraordinária sobre os mecanismos que regem a plasticidade sináptica, novamente atraindo a atenção de pesquisadores que trabalham na fronteira do conhecimento.
Objective: The aim of this work is to provide an actualized review in Portuguese language of the main clinical and behavioral features and in particular of the genetic and molecular aspects of Angelman syndrome, a cause of severe intellectual disability, which in rare cases can be recurrent in the family. Method: This paper is a literature review that used as a source of research, scientific papers with the terms "Angelman syndrome" or combined with UBE3A, clinical, genetics, and molecular in their title, retrieved trough the PubMed database. Among those, mainly review articles and original papers about cellular and molecular aspects of the pathology were selected, prioritarily, those published in the last ten years. Results: The term Angelman syndrome retrieved about 1100 papers, including close to 240 review articles. During the last ten years there were over 600 publications, with approximately 120 reviews, 50 percent of whom published in the last five years. The SciELO database was also searched and nine publications about the syndrome were found, three of which in Portuguese and no recent review article. Conclusion: After being one of the main causes to attract attention and stimulate studies to unravel the mechanisms of the genetic imprinting, Angelman syndrome is again in the spotlight because it is revealing itself as pathology of synaptic dysfunction. Albeit still long from understood, the molecular and cellular alterations in Angelman syndrome are allowing an extraordinary insight into the mechanisms which control synaptic plasticity.