A esteato-hepatite não alcoólica (EHNA) consiste em esteatose e inflamação lobular hepática, em indivíduos não alcoolistas. Ocorre associada a obesidade, hiperlipidemia, diabetes mellitus, sexo feminino, medicamentos e ‘bypass’ jejunoileal. Recentemente, a sobrecarga de ferro, secundária a mutações no gene HFE da hemocromatose hereditária, também vem sendo evidenciada nos pacientes com EHNA do sexo masculino, não obesos e não diabéticos. O presente estudo, envolvendo pacientes com EHNA do Ambulatório de Gastroenterologia do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, teve como objetivos traçar seu perfil clínico, laboratorial e histopatológico, pesquisar a presença de mutações do gene HFE, buscar associações entre esses resultados e rever a literatura a respeito. Trinta e dois indivíduos foram caracterizados quanto a 14 aspectos clínicos, 12 parâmetros laboratoriais e 11 variáveis histopatológicas. Em 31 destes pesquisaram-se as mutações C282Y e H63D pela técnica de PCR-RFLP, utilizando-se as enzimas de restrição SnaB I e Bcl I, respectivamente. As idades variaram entre 32 e 76 anos, com média de 49,2 anos. Sexo feminino (59%), obesidade (50%), hiperlipidemia (53%) e diabetes mellitus (31%) ocorreram em taxas inferiores às das primeiras séries publicadas. Outras condições encontradas foram uso de amiodarona e prednisona, inalação de substâncias químicas industriais e enterectomia extensa. As etnias branca (72%) e asiática (12%) ocorreram em percentagens maiores que da população geral; ao contrário, a negra (ausente) e mulatos (12%), em menores. A fibrose perivenular ocorreu em todos os casos, proporcional ao grau de atividade necroinflamatória. Os hialinos de Mallory foram identificados em 78% dos casos, mas a siderose em apenas 9%. Cerca de dois terços da casuística não apresentou queixas relacionadas ao aparelho digestivo. Dentre as enzimas hepáticas, a ALT foi a que se alterou com maior freqüência e magnitude, e a relação AST/ALT foi menor que dois em todos os casos. As incidências das mutações pesquisadas corresponderam às da população geral. A sobrecarga de ferro em sangue periférico não se correlacionou estatisticamente com a agressão histológica, nem com a presença das mutações. EHNA é um diagnóstico que engloba múltiplas condições, mas, na população estudada, não houve associação com a sobrecarga de ferro hepático, tampouco com as mutações conhecidas do gene HFE. / Non-alcoholic steatohepatitis (NASH) consists of steatosis and hepatic lobular inflammation in non-alcoholic individuals. It occurs in association to obesity, hyperlipidemia, diabetes mellitus, female sex, drug therapy and jejunoileal bypass. Recently, iron overload, secondary to mutations in the HFE gene in hereditary hemochromatosis has also been evidenced in nonobese, non-diabetic male patients with NASH. This study involves patients with NASH from the outpatient clinic of Hospital das Clinicas of the University of São Paulo School of Medicine, and its objective was to define patients’ clinical, laboratory and histological profiles and search for mutations in the HFE gene, compare results for associations and review the literature. Thirtytwo individuals were characterized for 14 clinical features, 12 laboratory parameters and 11 histopathological variables. The C282Y and H63D mutations in 31 of these individuals were searched using PCR-RFLP techniques, using restriction enzymes SnaB I and BcI I, respectively. Age varied from 32 to 76 yrs old, with an average of 49,2 yrs. Female sex (59%), obesity (50%), hyperlipidemia (53%) and diabetes mellitus (31%) had a lower incidence than those in the first series in the literature. Other features observed were amiodarone and prednisone use, inhalation of industrial chemical substances and extensive enterectomy. Its incidence was higher among Caucasians (72%) and Asians (12%) than in the general population, contrary to other ethnic types such as Black (absent) and Mulattos (12%) which presented lower incidences. Perivenular fibrosis was present in all cases, proportional to the degree of necroinflammatory activity. Mallory’s hyalines were identified in 78% of the cases, but hepatic siderosis was identified in only 9%. Around two-thirds of the casuistic did not have abdominal complaints. Among the hepatic enzymes, ALT was the most frequently altered with the highest magnitude and the AST/ALT ratio was < 2 in all cases. The incidence of the mutations studied was similar to those found in the general population. The iron overload in peripheral blood was neither statistically correlated to the histological aggression, nor to the presence of mutations. NASH diagnosis depends on multiple features, but in the population studied, there was no association with hepatic iron overload as well as with the known mutations in the HFE gene.

A doença de Chagas compromete o cólon em torno de 10% dos pacientes soro positivos, levando ao megacólon adquirido. O tratamento é cirúrgico, sendo a operação de Duhamel-Haddad a mais utilizada no Estado de Goiás, cuja execução pode levar a alterações do plexo nervoso vesical durante a dissecção do espaço retro-retal, ou ainda, a retirada do segmento colônico dilatado, levar a possíveis modificações da função miccional. O objetivo deste estudo foi avaliar através da urodinâmica se ocorrem alterações funcionais da bexiga no pós-operatório da cirurgia de Duhamel- Haddad, tendo como controle o próprio paciente, avaliado no pré-operatório. Foram estudados prospectivamente 16 pacientes (7 homens e 9 mulheres) no período de 2001 a 2002, cuja idade variou entre 30 e 71 anos. Para a realização deste exame, utilizou-se o aparelho Urosystem DS-5600 com cateter uretral de duas vias - 7 French e sonda retal com balão. A perfusão foi realizada com água destilada à temperatura ambiente e velocidade de 50 ml/min. Os parâmetros observados foram a fluxometria livre, cistometria e estudo miccional, utilizando-se os testes t-student e a regra de sinais de Descartes para a análise estatística. Os resultados deste estudo foram divididos em três grupos: 1- masculino e feminino; 2- feminino; 3- masculino. No primeiro grupo observou-se diminuição na pressão detrusora máxima. No segundo grupo, diminuição da pressão detrusora no fluxo máximo. No terceiro grupo, evidenciou-se aumento do fluxo urinário máximo e médio, diminuição do tempo de micção e pressão de abertura vesical (P < 0,05) / Acquired megacolon caused by Chagas disease is found in around 10% of chronic infected patients. Chagasic megacolon evolves with constipation and the advocated treatment is surgical. Duhamel-Haddad procedure has been one of the most used techniques in many centers. The necessity of rectal dissection and excision of the rectossigmoid dilated part may cause urinary malfunction. This study addressed urodynamic outcomes in patients submitted to surgical treatment of chagasic megacolon by the Duhamel-Haddad procedure. Sixteen patients (9 females), aged between 30 to 71 years old, were evaluated by urodynamic study in the pre and post operative period. Uroflowmetry, cystometry and pressure flow studies were analyzed. Statistical analysis was carried out applying the Student t-test. Each patient was considered his own control. There was an overall decrease of the maximum detrusor pressure. A decrease of the maximum urinary flow was found in the female group while in the male group an increase of the maximum urinary flow and a decrease of urinary flow time and opening pressure were observed (P < 0.05)

Orientadores: Edi Lúcia Sartorato, Arthur Menino Castilho / Dissertação (mestrado) - Universidade Estadual de Campinas, Instituto de Biologia / Made available in DSpace on 2018-08-20T16:24:36Z (GMT). No. of bitstreams: 1 Ramos_PriscilaZonzini_M.pdf: 3611007 bytes, checksum: 2be9b03e75155e4bfaecc2357fec2c70 (MD5) Previous issue date: 2012 / Resumo: A surdez é considerada a doença sensorial mais prevalente em humanos, causada por uma variedade de fatores ambientais e genéticos. No Brasil, não há dados oficiais referentes à prevalência e à etiologia das deficiências auditivas, mas sabe-se que os fatores ambientais ainda superam os de origem genética. No diagnóstico etiológico da surdez, a realização concomitante de exames laboratoriais, de imagem e genéticos, embora amplie a chance diagnóstica, onera o Sistema de Saúde, devido ao alto custo. Deste modo, o objetivo do presente estudo foi avaliar a eficácia dos exames de imagem e genéticos e seu impacto em Saúde Pública, bem como estabelecer um protocolo diagnóstico, visando maior eficiência e redução de custos na determinação da etiologia das perdas auditivas. Foi realizada a análise de 100 indivíduos com perda auditiva neurossensorial, atendidos no Ambulatório de Otorrinolaringologia do Hospital das Clínicas da UNICAMP, no período de 2002 a 2010, e que foram submetidos ao implante coclear. Uma investigação detalhada foi realizada nos pacientes, incluindo exames de imagem, genéticos e laboratoriais (em casos específicos). Após a realização dos exames específicos, o número de casos com a etiologia não esclarecida foi reduzido de 72 para 42, representando redução de 42%. Alterações radiológicas foram identificadas em 29 pacientes, enquanto alterações moleculares foram encontradas em 31 indivíduos, incluindo a c.35delG, p.V27I, p.M34T, p.V37I, p.E47X, p.L90P, p.V95M, p.K168R, p.W172X no gene GJB2, a del(GJB6-D13S1830) no gene GJB6 e a m.1555A>G no gene mitocondrial MTRNR1. Os exames de imagem e genéticos contribuíram, respectivamente, para o diagnóstico etiológico de 20% e 19% dos casos analisados. A etiologia não foi esclarecida em 42% dos pacientes, em 25% foi de origem ambiental, 19% genética, e em 14% dos casos decorrente de malformações ou outros problemas na orelha interna. Pôde-se concluir que tanto os exames de imagem quanto os genéticos foram importantes para a identificação da etiologia das perdas auditivas, no entanto, os testes moleculares contribuíram principalmente para o diagnóstico dos pacientes com surdez congênita, enquanto os exames radiológicos tiveram maior contribuição para os casos com perda progressiva ou abrupta. A alta prevalência de mutações no gene GJB2 foi confirmada, especialmente da mutação c.35delG, nos casos de perda auditiva neurossensorial severa a profunda bilateral. A pesquisa molecular teve importante contribuição no diagnóstico etiológico da surdez, além de possibilitar o aconselhamento genético e sugerir melhor prognóstico para o implante coclear, como observado em estudos prévios. O TaqMan® OpenArray® Genotyping é uma técnica promissora para o diagnóstico molecular da perda auditiva, pois permite a análise de diversas mutações em vários pacientes de uma só vez, o que implica em um diagnóstico mais rápido a um custo mais baixo. O protocolo sequencial permite a otimização do diagnóstico etiológico e redução dos custos, ao contrário da realização concomitante de exames de imagem, laboratoriais e genéticos. Por fim, mesmo com uma investigação detalhada, a etiologia desconhecida continuou prevalecendo, o que aponta para a necessidade de estudos moleculares mais aprofundados, para que a real causa possa ser esclarecida / Abstract: Deafness is considered the most prevalent sensory disorder in humans, caused by a variety of environmental and genetics factors. In Brazil, there are no official data regarding the prevalence and etiology of hearing impairment, but it is known that environmental factors are among the major causes. Although a simultaneous testing approach, including clinical exams, audiological, laboratorial, imaging and genetic expands the etiological diagnosis, overloads the healthcare system due to high costs. Thus, the goal of the present study is to evaluate the effectiveness of imaging and genetics tests and their impact on public health, aiming to increase efficiency and reduce costs of the etiological diagnosis of hearing loss. It was conducted an analysis of 100 patients with sensorineural hearing loss, from Department of Otorhinolaryngology of the State University of Campinas (UNICAMP), submitted to cochlear implantation between 2002 and 2010. A detailed investigation was performed in patients, including imaging and genetics analysis. After specific tests, the number of individuals with unknown cause was reduced from 72 to 42 (42% of reduction). Radiologic abnormalities were identified in 29 of the patients, while molecular alterations were found in 31 individuals, including c.35delG, p.V27I, p.M34T, p.V37I, p.E47X, p.L90P, p.V95M, p.K168R, p.W172X in the GJB2 gene, del(GJB6-D13S1830) in the GJB6 gene and m.1555A>G in the MTRNR1 mitochondrial gene. Genetic and imaging results contributed to the etiological diagnosis of 19% and 20% of the cases, respectively. The etiology remained unknown in 42% of the patients, was due to environmental factors in 25%, genetics in 19% and inner ear malformations or other defects in 14% of the cases. It was concluded that both imaging and genetic analysis were important to identify the etiology of hearing loss, however, molecular tests contributed mainly for diagnosis of patients with congenital deafness, while radiologic exams had greater contribution for diagnosis of cases with progressive or sudden hearing loss. The high prevalence of mutations in the GJB2 gene was confirmed, especially the c.35delG mutation, in cases of sensorineural severe to profound bilateral hearing loss. The molecular research had an important contribution to the etiology of deafness, besides providing genetic counseling and a better prognosis for cochlear implantation, as suggested by previous studies. The TaqMan® OpenArray® Genotyping is a promising technique for molecular diagnostic of hearing loss, because it allows the analisys of many mutations in several patients at once, which implies in a faster diagnosis at a lower cost. The sequential protocol enables an optimization of the etiological diagnosis and cost reduction, as opposed to simultaneously holding imaging, laboratory and genetic tests. Finally, even with a careful investigation, the unknown etiology prevailed as main cause which points to the need of carrying out detailed genetic studies in those cases with idiopathic hearing loss in order to elucidate the diagnosis / Mestrado / Genetica Animal e Evolução / Mestre em Genética e Biologia Molecular

Chez les personnes âgées, la maladie d'Alzheimer et les pathologies apparentées représentent actuellement un véritable problème de santé publique. Si les lésions anatomo-pathologiques de ces maladies sont bien définies, leur étiologie reste incertaine et vraisemblablement plurifactorielle. En tant que psychologue clinicienne, ce sont les théories impliquant le psychisme dans l'étiologie des maladies démentielles de l'âgé qui ont d'abord retenu mon attention. Une revue de question a permis d'en dresser une liste qui se veut exhaustive et qui se découpe en trois grandes catégories : les théories psycho-dynamiques, les théories psychosociales et enfin les modèles intégratifs plurifactoriels. Parmi ces derniers, celui faisant intervenir les évènements de vie en tant que facteurs de risque a suscité cette double recherche.Ainsi, dans une démarche qualitative, deux études ont débuté en parallèle. La première rétrospective, qui porte sur les histoires de vie d'une population de 30 malades Alzheimer ou apparentés, hébergés dans une unité de vie protégée ; la seconde prospective, qui explore l'évolution cognitive sur plusieurs années de 30 personnes âgées indemnes de troubles au début de l'étude, selon que leurs histoires de vie soient riches ou pas en événements de vie.Si un certain nombre d'évènements perturbants sont relatés par l'entourage pour la plupart des patients de la recherche rétrospective, l'étude prospective montre qu'un nombre important d'évènements de vie n'est ni une condition suffisante, ni une condition nécessaire pour constituer un facteur de risque de troubles cognitifs. Par contre, l'élaboration ou non de ce(s) même(s) évènement(s), leur caractère traumatique ou non, en lien avec le soutien et les aides reçus ou non semblent déterminants dans l'évolution cognitive des sujets.Enfin, chez la plupart des sujets pour qui les évènements anciens se révèlent traumatiques, un épisode contemporain de type « perte » viendrait réactiver les souvenirs et serait un facteur précipitant de troubles cognitifs, voire de décompensation vers une pathologie de la mémoire. / Among the elderly, Alzheimer disease and related pathologies currently constitute a real public health issue. The anatomo-pathological lesions of these diseases may be clearly defined but their etiology remains uncertain and is likely multifactorial. As a clinician psychologist, theories involving psychism in the etiology of demential diseases among elderly, first held my attention. A review of the question enabled me to make a list supposed to be exhaustive and divided into 3 categories : psycho-dynamic, psycho-social theories and multifactorial integrative patterns. Among the latter, the one involving life events as risk factors motivated this double research. Thus is a qualitive procedure, 2 studies started in parallel. The first retrospective dealing with life stories of a population of 30 people affected by Alzheimer or related diseases, hosted in a protected life-unit ; the second prospective scanning through cognitive evolution based on several years for 30 elderly people unharmed by troubles at the start of the study (depending on their life stories having many or few life events). If a certain amount of disturbing events are recounted by relatives for most of the patients of the retrospective research, the prospective research shows that an important number of live events is neither a sufficient nor a necessary condition to represent a risk factor of cognitive troubles. On the other hand, the elaboration or non elaboration of there events, their traumatic or non traumatic aspect (linked with the received or not received support and help) seems to be determining in the cognitive evolution of the subjects. Finally, among most of the subjects for whom past events prove to be traumatic, a contemporary "loss"-like episode would revive memories and would be an accelerating factor of cognitive troubles and even a collapse to a memory pathology.

Dietary factors have been implicated in the etiology of colon cancer. The salient components of high-risk diets are thought to be high intakes of meat, especially beef, and fat, especially animal fat, and low intakes of fiber. Low-risk diets are thought to be high in fiber, and low in meat and animal fat. The present study examines the effects of short-term consumption of diets hypothesized to increase or decrease the risk for colon cancer on mutagenic activity of feces. Whether the fecal mutagens responsible for the mutagenic activity observed in the study are directly involved in the etiology of colon cancer is not known. However, most known mutagens are potentially carcinogenic, and fecal mutagenic activity may be an indicator of risk for colon cancer. Six healthy adult subjects consumed the following diets in sequence a baseline diet for one week, a low-risk lacto-ovo vegetarian, high fiber diet for two weeks, and a high-risk, high meat, low fiber diet for two weeks. Quantitative daily food intake records were kept, and daily bowel habits were recorded. Fecal samples were collected at the end of each diet period. Analyses were performed of the diets for food and nutrient intake, and of feces for percent dry weight and pH. Mutagenic activity of the fecal samples was assayed using the fluctuation test for mutagens. The subjects' habitual diets, although omnivorous, were found to closely resemble a low-risk diet pattern. Analysis of the vegetarian and high meat diets confirmed that the subjects had consumed foods which respectively represented the components of high-risk and low-risk diets. The overall fecal mutagenic activity obtained with samples on the high meat diet was higher than with the vegetarian or baseline diets using Salmonella typhimurium TA 98 and TA 100. The trend towards higher mutagenicity on the high meat diet over the vegetarian diet was consistent for all six subjects using TA 100, and for five of the six using TA 98. The vegetarian and baseline diets resulted in similar overall mutagenic activity. Analysis of the fecal sample parameters using the Kruskal-Wallis one-way analysis of variance showed no significant differences among fecal samples from the three diet periods with respect to wet weight, dry weight, percent dry weight, pH or number of daily bowel movements. However, a sign-test analysis showed a significant trend (p<0.05) towards fewer bowel movements on the high meat diet than on the vegetarian diet. There were significant differences among subjects for all of the fecal sample parameters (p<0.01 or p<0.001). Spearman rank correlations were significantly positive between mutagenic activities using bacterial strains Salmonella typhimurium TA 98 and TA 100 for the baseline diet (p<0.01) and the vegetarian diet (p<0.05). There were also significant positive correlations (p<0.001) between pH and fecal mutagenicity on the high meat' diet using tester strain TA 100, and between wet weight and dry weight. The results of this study indicate that the overall mutagenic activity of human feces can be increased over a period of two weeks by the consumption of a diet high in meat and low in fiber, which is considered to be a high-risk diet for colon cancer. / Land and Food Systems, Faculty of / Graduate

Mutagens in feces have been suggested to be an indicator for risk of colon cancer. Groups consuming vegetarian diets are known to have lower mortality from colon cancer. The purpose of this study was to assess mutagenic activity in feces of persons habitually consuming vegetarian or non-vegetarian diets and to try to identify dietary factors or other health habits which contributed to fecal mutagenicity. Eleven strict vegetarians, six ovo-lacto vegetarians and twelve non-vegetarians, all from the Greater Vancouver area, participated in this study. Data on certain demographic variables and health habits, as well as dietary intake (food frequency and food records), were taken. One fecal sample was collected from each subject for the study. Aqueous extracts of the feces were prepared and analyzed for mutagens using the fluctuation test with Salmonella typhimurium TA100 and TA98. Levels of mutagenicity on each organism were then statistically correlated with frequency of consumption of food groups, nutrient intake, demographic data and health habits. Ovo-lacto vegetarians and strict vegetarians, as groups, had significantly lower levels of fecal mutagens than non-vegetarians in the TA100 assay. With TA98, only the strict vegetarians had lower levels of mutagens compared to the non-vegetarians. The presence of several different mutagenic compounds was indicated. Significant negative correlations were found with mutagenicity on TA98 for all subjects with the following dietary variables: fruits and juices, fiber and iron. Similar negative correlations were found for total carbohydrate and Southgate fiber intakes and mutagenicity on TA100. Within the group of non-vegetarians, there were negative correlations with mutagenicity on TA98 and total protein and with mutagenicity on TA100 and calcium. With the demographic variables and health habits, no clear pattern emerged to indicate factors which would predict lowered mutagenicity for all subjects. It is concluded that vegetarians have lower levels of fecal mutagenicity and that several dietary factors are likely to contribute to this phenomenon. / Land and Food Systems, Faculty of / Graduate

Orientador: Denise Pontes Cavalcanti / Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas / Made available in DSpace on 2018-08-22T09:53:23Z (GMT). No. of bitstreams: 1 Moreno_CarolinaAraujo_M.pdf: 4072523 bytes, checksum: 09921eee06d7c1098048c98a3f891b33 (MD5) Previous issue date: 2013 / Resumo: A hidropisia fetal não-imune (HFNI) é causada por um grupo heterogêneo de condições e atualmente corresponde à maior parte dos casos de hidropisia fetal. Em função da ampla diversidade etiopatogênica, a investigação dos casos de HFNI constitui um desafio diagnóstico. Esse estudo teve como objetivo a avaliação prospectiva e sistemática de uma série de casos de HFNI a partir de um protocolo de investigação ampliado, que incluiu a pesquisa de doenças metabólicas. O presente estudo também incluiu a revisão dos casos de HFNI registrados previamente pelo Programa de Genética Perinatal na maternidade da Unicamp. Durante aproximadamente dois anos (2010-2012), foram identificados 53 casos de HFNI. Nesse período, ocorreram 6.129 nascimentos na maternidade local, com registro de HFNI em 37 recém-nascidos, conferindo uma prevalência de 60 por 10.000 nascimentos, valor maior do que o observado no período anterior ao estudo (1987 a 2009). Para o restante da análise, quatro casos foram excluídos devido à impossibilidade de estudá-los adequadamente. A maioria dos hidrópicos nasceu pré-termo (43 - 73,5%). Houve registro de 23 nativivos (47%), 10 óbitos no período neonatal e 26 óbitos durante a gestação (53%), resultado em uma mortalidade geral (pré-natal e neonatal) de 73,4%. A hidropisia foi identificada no pré-natal na maioria dos casos (44 - 89,8%) e, apesar da condição ser comumente associada a mau prognóstico, em três pacientes (6,1%) houve resolução completa e espontânea da hidropisia durante a gestação. Os principais grupos diagnósticos encontrados foram: anomalias cromossômicas (17 casos - 34,7%), quadros sindrômicos (16,4% - oito casos), cardiopatias e infecções congênitas (8,2% - quatro casos cada). Os erros inatos do metabolismo (EIM) corresponderam a 6,1% da amostra (três casos de doenças de depósito lisossômico). Três casos (6,1%) foram classificados como idiopáticos. Comparando os diagnósticos da casuística prospectiva com aqueles observados no período 1987-2009, observou-se que os grupos diagnósticos mais frequentes, ou seja, anomalias cromossômicas, quadros sindrômicos e cardiopatias, foram os mesmos. No entanto, algumas diferenças foram observadas na casuística prospectiva, como a frequência maior de anomalias cromossômicas e de EIM, que podem ser explicadas respectivamente pela inclusão de abortos e pesquisa sistemática de doenças metabólicas. Por outro lado, a menor frequência do grupo de idiopáticos foi decorrente da ampliação do protocolo de investigação e da eliminação de casos inadequadamente estudados. Ressalta-se também que a frequência de EIM registrada no trabalho prospectivo (6%) foi superior à usualmente descrita na literatura e provavelmente aproxima-se da frequência real das doenças metabólicas em HFNI, justificando desse modo a pesquisa das mesmas na investigação de hidrópicos de causa não-imune após exclusão das condições mais comuns, como as anomalias cromossômicas, cardiopatias isoladas, infecções congênitas e síndromes conhecidas. Sendo assim, observou-se que o protocolo de investigação proposto permitiu o diagnóstico clínico-etiológico ou patogênico de mais de 90% dos casos, evidenciando que uma avaliação ampla e sistemática é capaz de identificar a maior parte dos fatores etiopatogênicos envolvidos na HFNI / Abstract: Non-immune hydrops fetalis (NIHF) is caused by a hetereogenous group of conditions, currently accounting for the most cases of hydrops fetalis. Because of the wide etiopathogenic diversity, the investigation of NIHF cases constitutes a real diagnostic challenge. This study aimed to evaluate prospectively and systematically a series of NIHF cases from an expanded research protocol including the investigation of metabolic diseases. The present study also aimed to revise the NIHF cases previously recorded by Perinatal Genetics Program (PGP) in the maternity hospital of Unicamp. During approximately two years (2010-2012), 53 cases were identified. In this period, among 6,129 births that occurred in our hospital, NIHF was identified in 37 newborns, given a birth prevalence of 60 per 10,000, higher than that was observed in the previous period - 23:10,000 (1987-2009). For purpose of all other analysis, four of the 53 cases evaluated had to be excluded due to inability to assess them correctly. Most hydropic individuals were born preterm (43 - 73.5%). Twenty-three patients (47%) were live births, 10 of them died before hospital discharge; and 26 (53%) died in the prenatal period, given an overall mortality of 73.4%. The hydrops were identified in prenatal period in most cases (44 - 89.8%), and despite being commonly associated with poor prognosis, three cases (6.1%) had complete and spontaneous resolution of hydrops during pregnancy. The main diagnostic groups were chromosomal abnormalities (17 - 34.7%), syndromic (8 - 16.4%), isolated heart defects (4 - 8.2%), and congenital infections (4 - 8.2%). Inborn errors of metabolism (IEM) occurred in three cases (6.1%), all represented by lysosomal storage diseases. Three cases (6.1%) were classified as idiopathic. The comparison of these diagnostic groups with those found during the retrospective period (1987-2009) showed that the most frequent groups, i.e. chromosomal abnormalities, syndromic and isolated cardiopathy, were the same. However, some differences were observed in the prospective series. For instance, the higher frequency of chromosomal abnormalities and IEM can be respectively explained because of the inclusion of abortions and due to systematic investigation of metabolic diseases. The lower frequency of idiopathic group, by the other hand, can be regarded as close related, first, to the expanded investigation and, second, to the exclusion of cases poorly studied. It is noteworthy that the recorded IEM frequency in the present prospective series (6%) was higher than the usually reported in the literature and seems to be more realistic, thus, justifying the inclusion of a systematic approach of these conditions in NIHF. This investigation, however, should be initiated after the exclusion of the more common causes, i.e., chromosomal abnormalities, isolated cardiopathy, congenital infections and known syndromes. In conclusion, the proposed investigation protocol allowed the clinical-etiological or pathogenic diagnosis in more than 90% of the cases, suggesting that the most etiopathogenic factors related to NIHF can be identified if a wide and systematic evaluation is performed / Mestrado / Genetica Medica / Mestra em Ciências Médicas

[pt] Este trabalho teve como objetivo principal avaliar as representações sociais, elaboradas por mulheres que tiveram câncer de mama, sobre a doença, sua etiologia e tratamento. Desenvolvemos teoricamente o tema a partir de quatro perspectivas: biológica, psicossomática, psicossocial e multifatorial. Realizamos uma pesquisa de campo, de natureza qualitativa, estudando 10 casos de mulheres que tiveram câncer de mama com idades entre 35 e 50 anos, que se submeteram à mastectomia, podendo ter feito ou não a reconstrução mamária, e que participavam como membros de uma associação de apoio a mulheres com câncer de mama da cidade de Niterói, Rio de Janeiro. Como instrumento desta pesquisa, utilizamos um questionário identificador e entrevistas semidirigidas, aplicados a tais mulheres individualmente e, depois, a seus familiares, com base em roteiro pré-elaborado. Para avaliação dos dados obtidos, empregamos a análise de discurso intra-sujeito e intersujeito. Na primeira, buscamos identificar, em cada caso, a percepção das entrevistadas sobre a doença, sua etiologia e as repercussões do tratamento oncológico em sua identidade feminina. Na segunda, construímos 10 categorias de análise. Os resultados revelaram que o câncer é apreendido pelas mulheres como um risco e ameaça à vida, que a retirada da mama afeta, majoritariamente, a identidade corporal e feminina, e que o adoecimento provoca muitas mudanças em suas vidas. / [en] The prime purpose of this paper is to assess the social representations created by women who have had breast cancer, and to discuss the disease, its etiology and treatment. We developed the theme theoretically, based on four perspectives: biological, psychosomatic, psychosocial and multi-factorial. We performed field research of a qualitative nature, studying ten cases of women who had breast cancer in the 35 to 50 age group and had undergone a mastectomy, could have done mammary reconstruction or not, and who participated as members of a support association to women with breast cancer in Niterói city, Rio de Janeiro State. As an instrument of this research, we used an identifying questionnaire and semi-focused interviews with those women individually and later with their relatives, based on a previously prepared script. In order to assess the obtained data, we used intra-subject and inter-subject discourse analysis. In the former, in each case we looked to identify the interviewee s perception of the disease, its etiology and the repercussions of cancer treatment on her female identity. In the latter, we created ten analytical categories. The results showed that women are apprehensive of cancer as life threatening and a risk, that breast removal in most cases affects the corporal and female identity, and that contracting the disease causes many changes in their lives.

Orientador: Emílio Carlos Elias Baracat / Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas / Made available in DSpace on 2018-08-26T18:52:29Z (GMT). No. of bitstreams: 1 SaoPedro_TaisdaCosta_M.pdf: 2742388 bytes, checksum: 2d73b02a2f0669996f10824db4a4d519 (MD5) Previous issue date: 2015 / Resumo: Introdução: A sepse ainda representa a principal causa de mortalidade em crianças. As complicações e a sobrevida na sepse dependem do diagnóstico precoce, do tratamento instituído, da resposta do paciente e do sítio de infecção. Outras variáveis epidemiológicas ou clínicas podem estar envolvidas na evolução desfavorável em pacientes admitidos em unidades de tratamento intensivo pediátrico. Identificá-las pode contribuir para uma melhor orientação de protocolos atualizados de diagnóstico e tratamento da doença. Objetivo: Determinar a etiologia e as manifestações clínicas e evolutivas da sepse em crianças e adolescentes internados em unidade de terapia intensiva. Hipótese: A inclusão das vacinas pneumocócica e meningocócica no calendário básico vacinal modificou a etiologia da sepse. Mudanças no perfil epidemiológico de crianças e adolescentes com sepse e nas manifestações clínicas e evolutivas da doença interferiram no prognóstico e na sobrevida. Métodos: Estudo de coorte prospectivo e retrospectivo. Coleta de dados nos prontuários médicos de pacientes com diagnóstico de sepse internados na unidade de terapia intensiva pediátrica do Hospital Municipal Dr. Mário Gatti, em Campinas-SP, de janeiro de 2011 a dezembro de 2013. Foram estudadas e comparadas nos grupos sobrevida e óbito, as variáveis: idade, gênero, comorbidade, esquema vacinal, agente etiológico, dados clínicos à admissão e presença de complicações na evolução. Resultados: 115 pacientes fizeram parte do estudo, com média de idade de 30,5 meses. Das culturas positivas (40), os agentes infecciosos isolados mais comuns foram Staphylococcus aureus (27,5%), Klebsiella pneumoniae (17,5%), Neisseria meningitidis (12,5%), Pseudomonas aeruginosa (10%) e Escherichia coli (10%). Sepse grave predominou nos pacientes de maior idade. Na comparação das variáveis gênero, idade, presença de comorbidades, esquema vacinal e uso de antibioticoterapia prévia, não foram encontradas diferenças significativas entre os grupos sobrevida (n=100) e óbito (n=15). A presença de complicações durante a internação foi fator associado ao óbito (RCP=27,7). Houve maior número de complicações no grupo com idade maior de 36 meses (p=0,003). Perfusão periférica alterada à admissão e o diagnóstico de sepse grave mostraram-se como fatores associados às complicações. Conclusão: Staphylococcus aureus e bactérias Gram negativas predominaram como agentes etiológicos no grupo de pacientes admitidos em terapia intensiva com diagnóstico de sepse. A gravidade da sepse e a perfusão periférica alterada à admissão estiveram associadas às complicações na evolução clínica. A presença de complicações durante a internação foi fator associado ao óbito / Abstract: Background: Sepsis is still the main cause of child mortality. Complications and survival in cases of sepsis depend on previous diagnosis, the type of treatment, the patient response and the infection site. Other epidemiological or clinical variables may be involved in the unfavorable evolution in patients admitted to pediatric intensive care unit. Identify them may contribute to a better orientation of updated diagnostic protocols and treatment of the disease. Objective: Determine the etiology and clinical/evolution variables of sepsis associated with complications and death in children and adolescents admitted in intensive care unit. Hipothesis: The inclusion of pneumococcal and meningococcal vaccines in the official vaccination schedule has changed the sepsis etilogy. Changes in the epidemiology of children and adolescents with sepsis and in clinical/evolution manifestations of this disease have influenced its prognostic and survival. Methods: Prospective and retrospective cohort study. Data were collected from medical records of patients diagnosed with sepsis, assisted at the pediatric intensive care unit of Hospital Municipal Dr. Mário Gatti, in Campinas-SP, from January 2011 to December 2013. The variables age, gender, comorbidity, vaccination schedule, etiologic agent, clinical data at admission and complications during evolution were analyzed and compared in survival and death groups. Results: One hundred and fifteen patients comprised the study, with an average of 30,5 months of age. From positive cultures (40), the most common isolated infectious agents were Staphylococcus aureus (27.5%), Klebsiella pneumoniae (17.5%), Neisseria meningitidis (12.5%), Pseudomonas aeruginosa (10%) and Escherichia coli (10%). Severe sepsis was more common in older patients. There was no difference between the survival (n=100) and death (n=15) groups in the comparison of the variables gender, age, presence of comorbidities, vaccination schedule and use of previous antibiotic therapy. The presence of complications during hospitalization was a death-associated factor (RCP=27,7). There was a higher number of complications in the group with age over 36 months (p=0,003). Altered peripheral perfusion at admission and diagnosis of severe sepsis showed as factors associated with complications. Conclusion: Staphylococcus aureus and Gram-negative bacteria predominated as etiological agents in the group of patients admitted in intensive therapy with diagnosis of sepsis. Sepsis severity and altered peripheral perfusion at admission were associated with complications in clinical evolution. The presence of complications during hospitalization was a factor associated with death / Mestrado / Saude da Criança e do Adolescente / Mestra em Ciências

Soft tissue sarcomas account for about 1% of all malignancies. The increase in incidence of soft tissue sarcomas during the recent decades may predominantly be attributed to AIDS-related Kaposi’s sarcoma; when this tumor is excluded, conclusive evidence for an age-adjusted increase is lacking. Beside the well investigated role of the human immunodeficiency virus 1 (HIV-1) and the human herpesvirus 8 (HHV-8) in the tumorigenesis of AIDS-related Kaposi’s sarcoma and several inherited disorders, considerable evidence support a relationship between occupational chemicals as vinyl chloride, phenoxyacetic acid herbicides, chlorphenols, dioxin, medicinal measures as Thorotrast exposure and therapeutic irradiation, and the development of soft tissue sarcoma. Hormones and chronic repair processes are further probably sarcoma-promoting factors. Considering the rarity of soft tissue sarcomas despite the vast portion that soft tissues comprise in the human body, additional knowledge on the tumorigenesis of soft tissue sarcomas might considerably contribute to the understanding of the etiologic pathways of malignant tumors in humans. / Weichteilsarkome stellen etwa 1% aller bösartigen Neubildungen. Der in den vergangenen Jahrzehnten beobachtete Inzidenzanstieg geht fast ausschließlich auf die rasante Zunahme an AIDS-assoziierten Kaposi-Sarkomen zurück. Bei Außerachtlassung dieses Tumors gibt es bisher keinen schlüssigen Beweis für eine wirkliche alterskorrigierte Häufigkeitszunahme der Weichteilsarkome. Neben der gut untersuchten Rolle des HIV-1-Virus und des humanen Herpes-Virus 8 bei der Entstehung des AIDS-assoziierten Kaposi-Sarkoms und einigen prädisponierenden genetischen Erkrankungen existieren starke Hinweise für einen Zusammenhang zwischen Industriegiften wie Vinylchlorid, Phenoxyessigsäure-Herbiziden, Chlorphenolen, Dioxinen, medizinischen Maßnahmen wie therapeutischer Bestrahlung oder dem Einsatz von Thorotrast, und der Entwicklung von Weichteilsarkomen. Hormone und chronische Reparaturprozesse sind weitere wahrscheinlich fördernde Einflüsse auf die Entstehung von Weichteilsarkomen. Die Tatsache, daß trotz des großen Anteils, den die Binde- und Stützgewebe an der Körpermasse stellen, nur selten maligne Tumoren von diesen Strukturen ausgehen, läßt hoffen, daß ein besseres Verständnis der an der Kanzerogenese von Weichteilsarkomen beteiligten Mechanismen in der Zukunft wichtige Erkenntnisse über die Entstehung menschlicher Tumoren liefern kann. / Dieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG-geförderten) Allianz- bzw. Nationallizenz frei zugänglich.