Orientador: Anamarli Nucci / Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas / Made available in DSpace on 2018-08-23T16:08:34Z (GMT). No. of bitstreams: 1 Rosa_TatianadaSilva_M.pdf: 1466384 bytes, checksum: 45b69dc792effba5fcc990ec7d2e1d65 (MD5) Previous issue date: 2013 / Resumo: As miopatias com centralização nuclear (MCM) são raras, heterogêneas quanto à clínica e genética e definidas pela histopatologia mostrando o núcleo central nas fibras musculares. Objetivos: avaliação fenotípica e funcional de pacientes com MCN, dando ênfase a métrica clínica, na serie de casos e individualmente. Métodos: O padrão ouro de diagnóstico foi a biópsia muscular. Fez-se revisão de 15 prontuários, e reavaliação clínica de 13 pacientes; aplicação das escalas medida da função motora, em português (MFM 32-P) e medida de independência funcional (MIF), exame de função pulmonar, goniometria e teste manual de força. Arbitrou-se escores individuais para a avaliação clínica, MFM 32-P, MIF e CVF% compondo um escore individual de gravidade. Usou-se estatística descritiva; e, o coeficiente de correlação de Pearson, com correção de Bonferroni, para investigar possíveis correlações, realizadas pelo programa SYSTAT v 9.0; nível de significância de 5%. Resultados: escores clínicos foram 3 (caso 4); 4 (caso 14); 7 (casos 8 e 10); 8 (caso 3); escore 9 (casos 5 e 15); 10 (caso 13); 12 (caso 11); 16 (casos 6 e 10); 17 (caso 7) e escore 18 (caso 9). A avaliação clinica diferenciou a MCN de inicio tardio daquelas de início precoce e congênitas, as primeiras com fenótipos de menor gravidade comparada com as últimas. Pela avaliação MFM 32-P obteve-se maior gravidade nos casos 6 a 10, quatro dos quais de início neonatal; casos 14 e 15, respectivamente, de início adulto e na adolescência. A MIF mostrou independência completa em 9/13 casos (69,2%); dois casos (15,3%) com dependência modificada de até 25% e outros dois com dependência de até 50%. A CVF<50% ocorreu em 5 casos (38,4%), CVF 50-69% em 6 casos (46,1%) e outros dois tiveram CVF>70%. Considerando o escore total individualizado de gravidade, o caso 7 obteve maior pontuação (24), sendo de forma neonatal e única cadeirante. Outros 23% tiveram escore igual ou acima de 20. MCN de gravidade intermediária (escores 11 a 15) foi observada em 53,8%; e 15,3% teve escore de 9 e 6, a menor gravidade. Essa se associou a inicio da MCN em adulto e em pacientes com longa duração da doença. Conclusão: Os instrumentos MFM 32-P e MIF permitiram caracterizar o espectro fenotípico da MCN e mostrar a variabilidade intrafamilial. Encontrou-se correlação positiva e significante entre a gravidade fenótipica motora detectada pela MFM 32-P e MIF em seus escores totais, assim como entre a D1 da MFM 32-P e os subdomínios mobilidade, locomoção e autocuidado da MIF. Não houve correlação entre a função pulmonar e as escalas MFM 32-P e MIF / Abstract: Myopathies with nuclear centralization are defined by histopathology. They are rare and heterogeneous in their clinical aspects and genetic. Objective: The study aimed to evaluate phenotypes in a cohort with centronuclear myopathies (CNM) and individual case, with emphasis on clinical and clinimetric. Methods:The gold standard for diagnosis was muscle biopsy. We reviewed medical records; patients were submitted to clinical examination, pulmonary function test, goniometry and manual test for strength (MRC). Scales measure of motor function, Portuguese version (MFM 32-P) and functional independence measure (FIM) were applied. Clinical evaluation, MFM 32-P, FIM and FVC% were arbitrarily scored and compose the sum for individual gravity score. Statistical analysis: we used descriptive statistic; and Pearson correlation coefficient with Bonferroni correction to investigate possible correlations in a SYSTAT v 9.0 program; significance level of 5%. Results: clinical scores were 3 (case 4); 4 (case 14); 7 (cases 8 and 10); 8 (case 3); score 9 (cases 5 and 15); 10 (case 13); 12 (case 11); 16 (cases 6 and 10), 17 (case 7), and score 18 (case 9). Clinical evaluation differentiates early onset CNM as more severe forms from adult onset CNM, the later with less scores. MFM 32-P showed higher severity in cases 6 to 10, four of which had neonatal onset CNM; cases 14 and 15 had adult-onset and adolescence expression, respectively. FIM showed complete independence in 9/13 cases (69.2%); two cases (15.3%) had modified dependence up to 25% and two with dependence up to 50%. FVC <50% occurred in 5 cases (38.4%), FVC% 50-69% in 6 cases (46.1%) and FVC>70% in other two cases. Considering individualized score of severity, case 7 had the highest score (24), a neonatal form and the only wheelchair bound of the cohort. Another 23% had a score equal to or above 20. CNM intermediate severity, scores 11 to 15, was observed in 53.8% of the cohort and 15.3% had minor scores of 6 and 9. This was associated with CNM with onset in adults, patients with long disease duration. In conclusion: the instruments MFM 32-P and MIF allowed to characterize the phenotypic spectrum of MCN and showed variability within families members. It was found positive and significant correlation between phenotypic severity detected by MFM 32-P and MIF in their total scores and between the D1-MFM 32-P and the sub domains mobility, locomotion and self-care of FIM scale. There was no correlation between lung function, MFM 32-P or FIM / Mestrado / Ciencias Biomedicas / Mestra em Ciências Médicas

Syftet med den här litteraturstudien var att granska effekten av fysisk aktivitet och träning på motoriska och kognitiva förmågor hos barn med autismspektrumtillstånd (AST) samt att undersöka vilken tillförlitlighet som finns för fysisk aktivitet och träning som behandlingsmetod hos denna patientgrupp. Strukturerade sökningar utfördes i databaserna PubMed och CINAHL. Nio randomiserade kontrollerade studier identifierades. Insamlade data bearbetades sedan genom att alla artiklar som inkluderas i studien granskades enligt PEDro-skalan och resultatens tillförlitlighet klassificerades enligt SBU GRADE. Effekten av interventionerna presenteras i en narrativ sammanställning av kvantitativa data. Kvalitén och bevisvärdet på ingående artiklar är låg till medelgod, men enskilda artiklar visar signifikanta resultat som indikerar att fysisk aktivet och träning kan bidra till positiva effekter vad gäller både kognitiv och motorisk förmåga hos barn med AST. Tillförlitligheten bedöms enligt SBU GRADE som mycket låg för fysisk aktivitet och träning i form av styrka och koordination, bollsporter, ridning och cykling. Resultatet i den aktuella studien ger vissa indikationer, trots stor variation av interventioner, att fysisk aktivet och träning kan bidra till positiva kognitiva effekter hos barn med AST. Även gällande motoriska effekter hos barn med AST kan positiva indikationer skönjas, men här är effekten dock ännu mindre tydlig. Det sammanvägda resultatet har mycket låg tillförlitlighet bedömt med SBU GRADE. Ytterligare studier efterfrågas.

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京都大学 / 0048 / 新制・論文博士 / 博士(人間健康科学) / 乙第13033号 / 論人健博第2号 / 新制||人健||3(附属図書館) / 32991 / 京都大学大学院医学研究科人間健康科学系専攻 / (主査)教授 坪山 直生, 教授 黒木 裕士, 教授 妻木 範行 / 学位規則第4条第2項該当 / Doctor of Human Health Sciences / Kyoto University / DFAM

京都大学 / 新制・課程博士 / 博士(医学) / 甲第24483号 / 医博第4925号 / 新制||医||1063(附属図書館) / 京都大学大学院医学研究科医学専攻 / (主査)教授 西浦 博, 教授 今中 雄一, 教授 滝田 順子 / 学位規則第4条第1項該当 / Doctor of Medical Science / Kyoto University / DFAM

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Water is arguably the most important nutrient given that even minor deficits lead to performance detriment for athletes and, in a matter of days, total absence causes fatality for all. Despite this, several reports suggest that an overwhelming amount of the athletic population competes and trains in a dehydrated state. The impact of dehydration on leisure sports, such as golf, is less certain given that fine motor skill sports have received less attention in the literature and that existing research on dehydration and golfers is largely limited to males. In this randomized, controlled, crossover pilot experiment, elite female golfers on the Virginia Tech Women’s Golf Team (n=6) completed four laboratory simulated golf holes in both euhydrated and dehydrated states. Euhydration (mean urinary specific gravity [USG]=1.009; range=1.003–1.021) was attained by following the NCAA hydration guidelines, and dehydration (mean USG=1.021; range=1.018–1.026) was attained via a 12 hour overnight fast from fluids. No significant interactions of condition by time for perceived effort, 7-iron distance and accuracy, putting accuracy, reaction time, and executive cognitive function were found between euhydrated and dehydrated states. However, although not significant, euhydrated participants demonstrated improved 7-iron and putting accuracy and reported less perceived effort as compared to performance during their dehydrated state. Based on USG levels, NCAA hydration recommendations may not be adequate to induce a euhydrated state for all athletes. More research is needed with larger sample sizes to further elicit the impact of hydration status on variance in motor and cognitive function for elite golfers. / Masters of Science / Besides oxygen, our bodies need water more than anything else to function. Water is so vital to health that its absence can cause death in just three days. Athletic populations, in particular, should aim for adequate hydration to optimize sport performance, to avoid heat illness, and to promote overall health and wellbeing. Despite this importance, few studies have investigated the impact of hydration status on athletic performance of golfers, and of these studies, none have been done with females. In this experiment, female golfers on the Virginia Tech Women’s Golf Team (n=6) completed four laboratory simulated golf holes in both euhydrated and dehydrated states. Adequate hydration (euhydration) was attained by following the NCAA hydration guidelines, and dehydration was attained by restricting participants from drinking any fluid for 12 hours overnight. Performance in both adequate hydration and dehydration was measured by perceived effort, 7-iron distance and accuracy, putting accuracy, reaction time, and executive cognitive function. No significant interactions for any of the measures resulting in differences over time were found. However, although not significant, euhydrated participants demonstrated greater 7-iron and putting accuracy and reported less perceived effort as compared to performance during their dehydrated state. One participant did not reach adequate hydration by following the fluid intake guidelines during the hydration visit; therefore, NCAA hydration recommendations may not adequately hydrate all collegiate athletes. More research is needed with larger sample sizes to determine the impact of hydration status on motor and cognitive function of elite female golfers.

Rett Syndrome (RTT) is a neurodevelopmental disorder affecting 1 out of 10,000 females worldwide. Mutations of the X-linked MECP2 gene encoding methyl CpG binding protein 2 (MeCP2) accounts for >90% of RTT cases. People with RTT and mice with Mecp2 disruption show autonomic dysfunction, especially life-threatening breathing disorders, which involves defects in brainstem neurons for breathing controls, including neurons in the locus coeruleus (LC). Accumulating evidence obtained from Mecp2−/Y mice suggests that imbalanced excitation/inhibition or the impaired synaptic communications in central neurons plays a major role. LC neurons in Mecp2−/Ymice are hyperexcited, attributable to the deficiency in GABA synaptic inhibition. Several previous studies indicate that augmenting synaptic GABA receptors (GABARs) leads to a relief of RTT-like symptoms in mice. The extrasynaptic GABARs located outside synaptic cleft, which have the capability to produce sustained inhibition, and may be a potential therapeutic target for the rebalance of excitation/inhibition in RTT. In contrast to the rich information of the synaptic GABARs in RTT research, however, whether Mecp2 gene disruption affects the extrasynaptic GABARs remains unclear. In this study, we show evidence that the extrasynaptic GABAR mediated tonic inhibition of LC neurons was enhanced in Mecp2−/Ymice, which seems attributable to the augmented δ subunit expression. Low-dose THIP exposure, an agonist specific to δ subunit containing extrasynaptic GABARs, extended the lifespan, alleviated breathing abnormalities, enhanced motor function, and improved social behaviors of Mecp2−/Ymice. Such beneficial effects were associated with stabilization of brainstem neuronal hyperexcitability, including neurons in the LC and the mesencephalic trigeminal V nucleus (Me5), and improvement of norepinephrine (NE) biosynthesis. Such phenomena were found in symptomatic Mecp2+/− (sMecp2+/−) female mice model as well, in which the THIP exposure alleviated the hyperexcitability of both LC and Me5 neurons to a similar level as their counterparts in Mecp2−/Y mice, and improved breathing function. In identified LC neurons of sMecp2+/− mice, the hyperexcitability appeared to be determined by both MeCP2 expression and their environmental cues. In conclusion, intervention to extrasynaptic GABAAR by chronic treatment with THIP might be a therapeutic approach to RTT-like symptoms in both Mecp2−/Y and Mecp2+/− mice models and perhaps in people with RTT as well.

Stroke, which has an increasing incidence with age, causes an irreversible brain damage which may lead to impairment, disability and decreased life satisfaction or death. Risk factors for death, recurrent stroke and myocardial infarction, were analyzed in 409 stroke patients treated at the Stroke Unit, Department of Medicine, Umeå University Hospital, between Jan. 1, 1978 and Dec. 31, 1982. The causes of death were related with the time of survival. In fully co-operable (n=62) 4-6 year stroke survivors, the occurrence of motor and perceptual impairments, of self-care (ADL) disability and of self-reported decreased life satisfaction due to stroke was determined. The probability of survival was 77% three months after stroke, 69% after one year, and 37% after five years. Multivariate statistical analysis indicated that impairment of consciousness was the most important risk factor for death followed by age, previous cardiac failure, diabetes mellitus, intracerebral hemorrhage and male sex. During the first week, cerebrovascular disease (90%) was the most dominant primary cause of death, from the second to the fourth week pulmonary embolism (30%), bronchopneumonia during the second and third months and cardiac disease (37%) later than three months after stroke. The risk of recurrence was 14% during the first year after stroke and the accumulated risk of stroke recurrence after 5 years was 37% after stroke. The estimated probability of myocardial infarction was 7% at one year and 19% at 5 years. High age and a history of cardiac failure increased the risk of recurrent stroke. The risk of myocardial infarction was associated with high age, angina pectoris and diabetes mellitus. The highest risk of epilepsy was found between 6 and 12 months after stroke. Motor impairment prevailed in 36% of the long-term survivors, perceptual impairments in up to 57% and decreased ADL-capacity in 32%. As regards ecological perception, perceptual function variables were distinctly grouped into low and high level perception which together with motor function explained 71% of the variance of self-care ADL. While levels of global and of domain specific variables of life satisfaction appeared stable in clinically healthy reference populations aged 60 and 80 years, the stroke had produced a decrease in one or more aspects of life satisfaction for 61% of the long-term survivors. Although significantly associated with motor impairments and ADL disability, these changes could not only be attributed to physical problems. / <p>S. 1-48: sammanfattning, s. 49-114: 5 uppsatser</p> / digitalisering@umu