As ataxias recessivas são um grupo heterogêneo de doenças, mais frequentemente com idade de início precoce (antes dos 30 anos), neuropatia sensitivo-motora periférica e envolvimento extraneurológico, mas também com quadro puro de ataxia e início tardio. A mais conhecida e comum delas é a ataxia de Friedreich (FRDA), motivo do presente trabalho. A FRDA é causada pela perda de função da frataxina, proteína transcrita pelo gene FXN. A mutação causal mais comum corresponde a uma expansão GAA no primeiro íntron desse gene. O quadro clínico clássico caracteriza-se por ataxia, arreflexia e sinal de Babinski, iniciando antes da puberdade. Também podem ocorrer alterações ósseas, Diabetes Mellitus e cardiomiopatia. Após o advento dos testes genéticos, viu-se que existem casos FRDA que iniciam após os 25 anos, chamados de late onset (LOFA), e mesmo após os 40 anos (very late onset ou VLOFA), e casos FRDA com reflexos tendinosos mantidos ou até mesmo com espasticidade (FARR). Embora a FRDA seja a ataxia recessiva mais comum no mundo, pouco se sabe sobre a sua ocorrência no Brasil. Os objetivos do presente estudo foram descrever as manifestações da ataxia de Friedreich entre os pacientes do Rio Grande do Sul e ajudar a esclarecer critérios de seu sucesso diagnóstico, e estimar a prevalência mínima da FRDA no Rio Grande do Sul em 2017. Métodos: foi realizado estudo transversal onde todos os casos de pacientes que realizaram análise molecular para FRDA que não apresentassem critérios de exclusão (certas características jamais presentes no FRDA e presença de outros diagnósticos explicativos, descritos no texto) foram avaliados, por meio de revisão retrospectiva de seus prontuários. As seguintes variáveis foram buscadas: história familiar de recorrência, consanguinidade, gênero, primeiro sintoma, idade de início, ano do diagnóstico molecular, duração da doença, subtipo fenotípico, achados de neuroimagem, presença de cardiopatia e Diabetes Mellitus. Os sujeitos foram classificados em quatro grupos: fenótipo 1, ou FRDA parcial - se apresentassem ao menos dois dos achados da tríade clássica (ataxia, arreflexia e sinal de Babinski) e menos de 10 de evolução; com qualquer idade de início; fenótipo 2, clássico, com início antes dos 25 anos; fenótipo 3, se aparentassem ser LOFA ou FARR; e fenótipo 0, se não se incluíssem em nenhuma das categorias acima. Para a estimativa da prevalência mínima, ligações telefônicas para todos os sujeitos foram feitas e todos os vivos (de fato ou muito provavelmente) ao final do estudo (setembro de 2017) foram somados. Esse numerador foi então comparado ao da população do Rio Grande do Sul ao final do período (o denominador). Resultados: 211 pessoas de 197 famílias realizaram análise molecular para FRDA desde 1997; 27 dos 197 casos-índices (13,7%) foram diagnosticados como afetados por FRDA. Se forem considerados apenas os casos índice com ataxia de marcha (156 sujeitos), este percentual chega a 17,3%. Vinte e seis eram homozigotos para expansões GAA (98% dos alelos mutantes). A grande maioria apresentava o quadro típico. Os achados extraneurológicos foram mais comuns nos FRDA do que nos demais atáxicos (apesar de também encontrados nos outros casos em menor proporção), enquanto que sinais e sintomas neurológicos atípicos foram virtualmente inexistentes nos FRDA. Não houve variabilidade fenotípica intrafamilial na FRDA, nem diferenças entre os fenótipos em relação à presença de DM e cardiopatia ou à duração da doença. O rendimento diagnóstico reduziu-se a partir de 2010, quando mais sujeitos sem qualquer manifestação característica da FRDA (os com fenótipo 0) passaram a ser investigados. O levantamento realizado sobre os FRDA vivos em 2017 correspondeu a uma prevalência mínima estimada de 0.20:100.000 habitantes no RS. Discussão: A frequência da FRDA entre as AR/E foi menor do que a encontrada em países da Europa Ocidental, mas maior do que a encontrada em estudos latino-americanos realizados no México e em Cuba. Também a prevalência mínima estimada foi menor do que a encontrada entre europeus. É difícil se inferir a partir do nosso levantamento se esses dados refletem ou não nossa mistura étnica. As características clínicas dos FRDA foram semelhantes às descritas em estudos realizados no hemisfério norte. O baixo rendimento diagnóstico foi em alguma medida associado a critérios de indicação relaxados e que incluíram sujeitos sem suspeita clínica, em especial nos últimos anos. Apesar disso, a baixa frequência de FRDA entre os atáxicos AR/E entre nós levanta a preocupação sobre protocolos diagnósticos locais e sobre o que eles devam incluir. Finalmente, recomendamos que a investigação da FRDA seja postergada nos casos com achados raros (como a atrofia cerebelar) ou ausentes na FRDA, e nos casos sem qualquer um dos elementos da tríade clássica. / Recessive ataxias are a heterogeneous group of diseases, more frequently with early age of onset (before 30 years), peripheral motor and sensory polyneuropathy and extraneurological involvement, but also with cases of pure ataxia e late onset.. The most known and common is Friedreich ataxia (FRDA). FRDA is caused by the loss of function of frataxin, a protein coded by the gene FXN. The most common causal mutation is a GAA expansion in the first intron of this gene. The typical clinical condition is characterized for ataxia, arreflexia and Babinski sign, beggining before puberty. Bone deformities, cardiomyopathy and Diabetes Melittus can also occur. After the advent of genetic tests, other FRDA phenotypes were observed: beggining after 25 years of age, called late onset (LOFA), or even after 40 years (very late onset – vLOFA), and with retain reflexes (FARR). Althouth FRDA is considered to be the most common recessive ataxia worldwide, little is known about its occurence in Brazil. The objectives of the presente study were to describe FRDA manifestations among the carriers in Rio Grande do Sul (RS) and to help clarify the reasons for its diagnostic success and estimate the minimal prevalence of FRDA in Rio Grande do Sul in 2017. Methods: a cross-sectional study was made where all the cases of patients who investigated for FRDA in our institution who didn’t met the exclusion criteria (certain features never described in FRDA and presence of other explanatory diagnosis) were analysed by medical record retrospective review. The following variables were searched: heritage pattern, gender, first symptom, age of onset, year of molecular diagnosis, disease duration, phenotypic subtype, neuroimaging findings, presence of cardiomyopathy and DM. The subjects were classified in four groups: phenotype 1, or partial FRDA – if at least two features of classical triad being and less than 10 years of evolution; phenotype 2, typical, begginig before 25 years; phenotype 3, if phenotypes LOFA or FARR; and phenotype 0 if not included on none of the later categories. To estimate the minimal prevalence, phone calls were made to all subjects and all the alive (in fact or probably) by the end of the study (september 2017) were summed up. This numerator was then compared to the population of RS in the end of the period (denominator). Results: 211 people of 197 families performed the molecular analysis for FRDA since 1997; 27 of the 197 index cases (13,7%) were diagnosed as affected by FRDA. Twenty six were homozygous for the GAA expansion (98% of the mutante alleles). The majority presented the typical picture. The extraneurological findings were more common in FRDA patients than in the other ataxics (even though they could also be found on them), while the atypical neurologic findings were virtually absent in FRDA group. There was no intrafamilial variability or diferences between the phenotypes and the presence of DM, cardiomyopathy and disease duration. The diagnostic yield was reduced after 2010, when more ataxic subjects without a suggestive phenotype of FRDA (the phenotype 0) started to be investigated. Minimal estimated prevalence by September 2017 was of 0,20:100.000 inhabitants in RS. Discussion: the frequence of FRDA between AR/E was lower than the figures found in countries from western Europe, but higher than those found in Mexico and Cuba. In accordance, minimal prevalence was also lower than those found amog Europeans. If these findings reflect or no our ethnic admixture, remains to be established. The features of FRDA were similiar to those described in studies performed on the North Hemisphere. The low diagnostic yield was somehow associated to relaxation of criteria to ask the test for FRDA in the last years. Besides that, the low FRDA frequency among us rises some concern about local diagnostic protocols and about what they should include. Finally, we recommend that FRDA investigation should be postponed in the cases with rare findings (like cerebelar atrophy), findings unrelated to FRDA, or without the other elements found in the classical triad or in FARR

Orientador: Francesco Mercuri / Dissertação (mestrado) - Universidade Estadual de Campinas, Intituto de Matematica, Estatistica e Computação Cientifica / Made available in DSpace on 2018-08-05T13:33:06Z (GMT). No. of bitstreams: 1 Min_LienKuan_M.pdf: 1157875 bytes, checksum: 65f63453a02a7c1365c0a9b3524a1602 (MD5) Previous issue date: 2006 / Resumo: O teorema de Bernstein é um marco importante na teoria das superfícies mínimas. Nesta dissertação apresentaremos três demonstrações deste teorema, cada uma levando a generalizações em diferentes direções / Abstract: The Bernstein's theorem is an important landmark in the theory of the minimal surfaces. In this dissertation we will present three demonstrations of this theorem, each one leading to generalizations in different directions / Mestrado / Geometria Diferencial / Mestre em Matemática

CoordenaÃÃo de AperfeiÃoamento de Pessoal de NÃvel Superior / Obtemos limites inferiores para o tom fundamental de conjuntos abertos em subvariedades com curvatura mÃdia localmente limitada no espaÃo produto N x R, onde N à uma variedade Riemanniana completa n-dimensional com curvatura seccional K à menor ou igual que a curvatura do espaÃo forma. Quando a imersÃo à mÃnima nossas estimativas sÃo Ãtimas. / We give lower bounds for the fundamental of open sets in submanifolds with locally bounded mean curvature in N X R, where N is an n-dimensional complete Riemannian manifold with radial sectional curvature KN is less than or equal to the curvature of space form. When the immersion is minimal our estimates are sharp.

FundaÃÃo de Amparo à Pesquisa do Estado do Cearà / O presente trabalho de mestrado visa estudar alguns dos trabalhos do matemÃtico italiano Ennio De Giorgi os quais fazem referÃncia a existÃncia e regularidade de superfÃcies mÃnimas mas estas nÃo contextualizadas integralmente no Ãmbito da Geometria Diferencial mas sim voltadas a um campo da matemÃtica a algumas dÃcadas implementada que a Teoria GeomÃtrica da Medida. Segundo as definiÃÃes de Ennio De Giorgi iremos estudar superfÃcies, que para o mesmo se davam como bordos de certos conjuntos, os quais sÃo denotados de conjuntos de Caccioppoli, homenagem esta dada por Di Giorgi a o matemÃtico italiano Renato Caccioppoli. Tais conjuntos tem muitas propriedades geomÃtricas interessantes, como por exemplo adimetem plano tangente canÃnico em quase todo ponto, e, possuem âperÃmetroâ finito. Os resultados expostos constatarÃo que atà a dimensÃo 7 todas as soluÃÃes do problema de Plateau sÃo regulares e em geral sua classe de regularidade à C1,&#945;. Enfim, os resultados deste trabalho em sua maioria serÃo baseados na obra: Minimal Surface and Function of Bounded Variation do autor Enrico Giusti, o qual resume bem as tÃcnicas de Teoria GeomÃtrica da Medida referentes aos trabalhos de Ennio De Girogi sobre teoria de regularidade de superfÃcies mÃnimas. Teorema (De Giorgi-Federer-Massari-Miranda). Sejam &#937; contido em R^n, n >1 um conjunto aberto e E contido em R^n um conjunto de Caccioppoli satisfazendo para &#945; em (0, 1) &#968;(E, B&#961;(x)) < c&#961;^(n-1+2&#945;) para todo x em &#937; e todo &#961; em (0, R), com c e R constantes positivas. EntÃo a fronteira reduzida à uma hipersuperfÃcie analÃtica C1,&#945; em &#937;, e H^s((&#8706;E - &#8706;E) &#937;) = 0 para todo s > n - 8. AlÃm disso, suponha que Ej à uma sequÃncia de conjuntos minimais em B1 convergindo localmente a um conjunto mÃnimal C. Sejam x em &#8706;C e xj em Ej , xj convergindo a x. EntÃo, se j à suficientemente grande, xj à um ponto regular para &#8706;Ej e &#957;Ej(xj) converge a &#957;(x), onde &#957;(x) à o vetor normal relativo a Ej, &#8706;E denota a fronteira reduzida de E e H^s denota a medida de Hausdoff. / This master thesis aims to study some of the work of the Italian mathematician Ennio De Giorgi which refer to the existence and regularity of minimal surfaces but they do not fully contextualized within the framework of differential geometry but rather focused on a field of mathematics that implemented a few decades Geometric Measure Theory. According to the definitions of Ennio De Giorgi will study surfaces, which gave to the same as certain boundarys of sets, which are denoted sets Caccioppoli, this honor given by De Giorgi the Italian mathematician Renato Caccioppoli. These sets have many interesting geometric properties, such as adimits canonical tangent plan almost everywhere, and have "perimeter" finite. The above results will see that even the size 7 all the solutions to the problem of Plateau are regular and in general their regular class is C1,&#945;. Finally, the results of this study are mostly based on the work: Minimal Surface and Function of Bounded Variation of the author Enrico Giusti, which summarizes the techniques of Geometric Measure Theory relating to the work of Ennio De Girogi on a regularity theory of minimal surfaces Theorem (De Giorgi- Federer- Massari - Miranda) Let &#937; contains in R^n, n>1 an open set and E contains in R^n a Caccioppoli set satisties to &#945; in (0, 1) &#968;(E, B&#961;(x)) < c&#961;^(n-1+2&#945;) for every x in &#937; and every &#961; in (0, R), with c and R positive constants. Then the reduced boundary is a hipersurface analitic C1,&#945; in &#937;, e H^s((&#8706;E - &#8706;E) &#937;) = 0 for every s > n - 8. Furthemore, suppose that Ej is a sequence of minimal sets in B1 locally converging at minimal set C. Let x in &#8706;C and xj in Ej , xj converging at x. Then, if j is enough large , xj is a regular point for &#8706;Ej and &#957;Ej(xj) converges to &#957;(x), where &#957;(x) is a normal vector relative at Ej, &#8706;E denots the boundary reduced of E and H^s denots the Hausdorff measure.

M.A. (Psychology) / Minimal brain dysfunction as a diagnostic category with specific manifestations in terms of decreased scholastic ability, deficits in perseptual-motor and attentional functioning, has received a great deal of attention over the past ten years. However, the precise nature of this condition is still unclear, especially with regards to children diagnosed as having minimal brain dysfunction's response to remedial treatment and medication. From a literature survey it was concluded that there are two groups of children with minimal brain dysfunction. These groups comply with the definitions made by Kenny, (1980) of a hiperkinotaxic group and a pseudohiperkinotaxic group where the former appear to be a group of children who do not respond to any form of training or treatment without the addition of stimulant medication. The pseudohiperkinotaxic group respond to educational remedial and psychological treatment without stimulant medication, where stimulant medication may even decrease their functional ability. It was hypothesized that because of certain neuro-chemical factors hiperkinotaxic children are less conditionable without stimulant medication, than the pseudohiperkintoxic chirdren. In order to investigate this hypothesis three groups of children were isolated, a control group with no sign of minimal. brain dysfunction, an experimental group with minimal brain dysfunction who responded psychological and educational treatment only with the addition of stimulant medication...

Magíster en Ciencias de la Ingeniería, Mención Matemáticas Aplicadas. Ingeniero Civil Matemático / En 1992 M. Boshernitzan [6] presenta una condición suficiente para que los subshifts minimales sean únicamente ergódicos. Usando el concepto de factores simbólicos extendemos esta condición a sistemas minimales de Cantor. Decimos que un sistema minimal de Cantor satisface la condición de Boshernitzan si todos sus factores simbólicos satisfacen la condición de Boshernitzan. Esta extensión resulta natural en cuanto todo sistema minimal de Cantor es topologicamente conjugado al límite inverso de ciertas secuencias factorizantes de factores símbolicos. Demostramos que la condición de Boshernitzan implica única ergodicidad para sistemas minimales de Cantor. También mostramos que esta condición puede ser verificada analizando cualquier representación de Bratteli-Vershik de un sistema minimal de Cantor dado. Luego tiene sentido buscar condiciones sobre los diagramas de Bratteli asociados a un sistema minimal de Cantor que sean necesarias y/o suficientes para que tal sistema satisfaga la condición de Boshernitzan. Presentamos varias de estas condiciones. Las más generales están relacionadas con el comportamiento asintótico de los vectores de altura y los vectores de medida de las representaciones de Bratteli-Vershik. Estas condiciones son luego reduci- das, sacrificando un poco de generalidad, a condiciones concernientes a la repetición de un bloque de matrices positivas dado en una cantidad infinita de niveles de los diagramas. En todos los casos se considera una hipótesis de estandarización sobre el orden de los diagramas. Se explora el alcance y las limitaciones de los criterios presentados a través del estudio de ejemplos específicos. Se observa que la combinatoria de los sistemas influye de gran manera en el cumplimiento de la condición de Boshernitzan. In 1992 M. Boshernitzan [6] provided a sufficient condition for minimal subshifts to be uniquely ergodic. By using the concept of symbolic factors we extend this condition to Cantor minimal systems. We say a Cantor minimal systems satisfies Boshernitzan s condition if all of its symbolic factors satisfy Boshernitzan s condition. This extension seems natural given the fact that every Cantor minimal system is topologically conjugate to the inverse limit of certain factoring sequences of symbolic factors. We prove that Boshernitzan s condition implies unique ergodicity for Cantor minimal systems. We also show that this con- dition can be verified by analyzing any particular Bratteli-Vershik representation of a given a Cantor minimal system. It then makes sense to look for diagram related necessary and/or sufficient condition for Cantor minimal systems to satisfy Boshernitzan s condition. We pro- vide several of these conditions. The more general ones relate to the asymptotic behaviour of the height vectors and measure vectors of the Bratteli Vershik representations. These con- ditions are then reduced, sacrificing some generality, to conditions concerning the repetition of a given block of positive matrices at inifinitely many levels of the diagrams. In all cases a standardization hypothesis on the order of the diagrams is made. We explore the scope and limitations of the criteria provided by studying specific examples. The combinatorics of the systems is seen to greatly influence the achievement of Boshernitzan s condition.

M.A. (Psychology) / The purpose of this study was to determine if a relationship exists between social competence and the recognition of emotional expressions in children with minimal brain dysfunction. For this purpose a scale that assessed recognition of emotional expressions. was constructed and validated. Subsequently a group of 26 children with minimal brain dysfunction that satisfied certain selection criteria were selected as an experimental group and were paired off with a group of normal children. The groups were thereafter compared with each other in respect of social competence and recognition of emotions. Results revealed that children with minimal brain dysfunction made significantly more errors in the recognition of emotional expressions and that behavioural predispositions or traits such as aggression, assertiveness, and submission differed significantly between normal children and those with minimal brain dysfunction.

[pt] Em 1897, J. Hadamard provou um resultado sobre superfícies compactas, localmente estritamente convexas no espaço euclidiano R3, mostrando que tais superfícies são mergulhadas e homeomorfas à esfera. A partir daí mui- tas generalizações foram feitas adaptando as hipóteses sobre a curvatura e considerando novos espaços em que estas superfícies pudessem ser imersas de forma que resultados análogos fossem obtidos. Seguindo este contexto, este trabalho generaliza um resultado tipo Hadamard-Stoker para hiper- superfícies localmente convexas imersas em Hn x R. Provamos que toda hipersuperfície completa, conexa, imersa em Hn x R com segunda forma fundamental positiva deve ser mergulhada, homeomorfa à esfera Sn ou a Rn, e no segundo caso estudamos o comportamento do fim. / [en] In 1897, J. Hadamard proved a result about compact, locally strictly convex surfaces in the Euclidean space R3 showing that such surfaces are embedded and homeomorphic to the sphere. Since then many generalizations were made adapting the assumptions about the curvature and considering new spaces in which these surfaces could be immersed so that analogous results were obtained. Following this context, this work generalizes a result of Hadamard-Stoker type to locally convex hypersurfaces immersed in Hn×R. We prove that every complete connected hypersurface immersed in Hn ×R with positive second fundamental is embedded, homeomorphic to the sphere Sn or to Rn, and in the second case we study the behavior of the end.

The aim of orthodontic treatment is to provide the patient with a good static and functional occlusion. During research that was conducted to complete a seminar on the static and functional aspects of occlusion, the author discovered that there might be a discrepancy between the goals of an ideal static occlusion, and the goals of an ideal functional occlusion. An ideal static occlusion seemed to require a flat mandibular plane and a minimal amount of overbite after active orthodontic treatment, whereas an ideal functional occlusion required a curved mandibular plane and an overbite of 4 mm to prevent cusp interferences during functional mandibular movements. The rationale behind the excessively flat mandibular plane and minimal overbite after orthodontic treatment is to compensate for the tendency of the bite to deepen during the period following orthodontic treatment. This tendency to relapse causes uncertainty about the stability of orthodontic treatment. Little research has been dedicated to examining the long-term stability of the leveled curve of Spee. In addition, there seems to be a considerable amount of controversy surrounding the long-term stability of overbite correction after orthodontic treatment. The aim of this study was to evaluate the stability of the curve of Spee and the overbite following orthodontic treatment. In addition, the relationship between the curve of Spee and the presence of anterior guidance after a period of orthodontic retention, was examined. The relationship between the overbite and the presence of anterior guidance was also examined, and the results were used to predict an ideal value for the overbite to avoid possible dental cusp interferences. Standardized digital photographs of the dental casts of 40 subjects were taken at three different stages: before treatment (T1), after orthodontic treatment (T2), and three years (mean) post-treatment. Accurate electronic measurement of the curve of Spee, using computer software, was completed for all three stages. The overbite was measured with a dial caliper. Clinical evaluation of the functional occlusion, with special reference to anterior guidance, was performed on all the subjects. Statistical analysis was carried out in search of statistical significant changes between the various stages, and possible correlations between the different variables. The results indicated that the leveling of the curve of Spee is a stable treatment procedure. The overbite was less stable than the curve of Spee, and nearly half the amount of overbite correction obtained during treatment, relapsed in the three years (mean) post-treatment. No relationship was found between the curve of Spee and the presence of anterior guidance at T3. A highly significant relationship was found between the overbite and the presence of anterior guidance. Subjects with a small overbite seemed to be predisposed to posterior interferences during mandibular protrusion. An overbite of not less than 3mm was found to be a desirable feature after orthodontic retention in order to reduce potentially interfering contacts. More research is necessary to clarify the relationship between dental interferences and temporomandibular disorders (TMD). / Dissertation (MChD (Orthodontics))--University of Pretoria, 2004. / Orthodontics / unrestricted

Department of Biological and Medical Sciences Faculty of Pharmacy in Hradec Králové Charles University in Prague Author: Ivana Ťapuchová Title of diploma thesis: Evaluation of activity of potentional antifungal substances through the use of microdilution broth method Supervisor: Mgr. Marcela Vejsová, Ph.D. Background: The aim of this diploma thesis was to evaluate potential antifungal activity of 52 test substances which were develope at the Department of anorganic and organic chemistry Faculty of Pharmacy in Hradec Králové Charles University in Prague. Methods: For testing we used microdilution broth method on eight strains of yeasts and filamentous fungi in the laboratory of Department of Biological and Medical Sciences. Results: Overall 26 test substances with various substituents had antifungal activity. These substances was derivates of 4-aminobenzoic acid, 4-aminosalicylic acid, 5-aminosalicylic acid and large group derivates of sulfonamids. The most sensitive strain was dermatophyt Trichophyton mentagrophytes, the least sensitive strain was filamentous fungi Absidia corymbifera. Conclusions: Despite there was observed antifungal activity in low concentrations of derivates, it is necessary to perform next tests and clinical studies to prove efficiency and safety for use. Key words: yeasts,...