Made available in DSpace on 2016-08-19T18:16:06Z (GMT). No. of bitstreams: 1 Dissertacao Maria Juliana.pdf: 1730875 bytes, checksum: bb81b2862c7cfd5a83d783a11b1172e9 (MD5) Previous issue date: 2012-06-04 / INTRODUCTION: Intellectual disability (ID) occurs in 2-3% of the population and it has a heterogeneous etiology (genetic, environmental or multifactorial). The diagnosis of DI requires use of validated instruments, unavailable for children younger than 5 years, for which reserves the term global developmental delay (GDD). It is essential specialized assessment to the people with GDD /ID, isolated or syndromic, as well as to obtain a detailed overview of factors that may be associated with its onset. OBJECTIVES: To analyze cases of GDD / ID in children and adolescents who attended APAE St. Louis describing the sociodemographic characteristics, conditions of pregnancy, childbirth, the newborn, the clinical evolution and monitoring. METHODS: A quantitative cross-sectional descriptive study. It was collected primary data of 156 patients evaluated at the Medical Genetics Service from this institution in December 2009 to December 2010, and used Windows Microsoft Office Excel 2008 for tabulation and Epi Info 3.5.1 to calculate simple frequencies. RESULTS: It were observed: mean age 36 months, the ratio between males and females of 1.2:1; journal to offset the capital, 20% of cases; parental consanguinity in 4.5%, similar cases in the family 7 %. The mothers, mostly had between 20 and 34 years old, exclusively home occupation, with at least primary education and until two pregnancies. Pregnancy: begun antenatal care until the third month in 63.5% (only 11% in the first month), 14% ethanol exposure, the majority denies exposure to tobacco or drugs inappropriate for pregnancy; and in 60% were referred some eventful; 17.3%, antenatal diagnosis of congenital malformations or infections. Delivery: 88.5% in hospital, 72% at term and 21.8% preterm, 54.5% in vaginal delivery and cesarean section in 35.3%, 86% in cephalic presentation. Conditions of newborns: 39% had hypoxia suspicion, 46.8% required ICU admission, and 44.5% had been hospitalized for more than eight days. Anomalies of the central nervous system (CNS) were found in 61.5%, including those that could be observed by simply measuring head circumference - microcephaly (50%), macrocephaly (5%). Most had no access to basic exams to diagnostic investigation (CNS imaging, karyotype, hearing and vision assessment). CONCLUSIONS: Reiterate the lack of studies on the subject, the inequity of access to diagnosis and treatment, the need for qualification of antenatal and childbirth care, and of the implementation in fact of the Integral Attention National Policy on Clinical Genetics. / INTRODUÇÃO: A deficiência intelectual (DI) ocorre em 2 a 3% da população e tem etiologia heterogênea (genética, ambiental ou multifatorial). O diagnóstico de DI requer uso de instrumentos validados, indisponíveis para crianças com idade inferior a 5 anos, para os quais reserva-se o termo atraso global do desenvolvimento (AGD). É imprescindível a avaliação especializada das pessoas com AGD/DI, isolado ou sindrômico, bem como a obtenção de um panorama detalhado dos fatores que possam se associar ao seu aparecimento. OBJETIVOS: Analisar os casos de AGD/DI em crianças e adolescentes que frequentaram a APAE São Luís descrevendo as características sociodemográficas, as condições da gestação, do parto, do recém-nascido, da evolução clínica e do acompanhamento. METODOLOGIA: Estudo quantitativo descritivo do tipo transversal. Foi realizada coleta de dados primários dos 156 pacientes atendidos no serviço de Genética Médica desta instituição em dezembro de 2009 a dezembro de 2010 e, utilizados Windows Excel Microsoft Office 2008 para tabulação e Epi Info 3.5.1 para cálculo de frequências simples. RESULTADOS: Foram observados: idade média de 36 meses, razão entre os sexos masculino e feminino de 1,2:1; deslocamento periódico para a capital, em 20% dos casos; consanguinidade parental de 4,5%; casos semelhantes na família em 7%. As mães: maioria entre 20 e 34anos, do lar, com pelo menos o Ensino Fundamental Completo e até duas gestações. Gestação: início do pré-natal até o terceiro mês em 63,5% (só 11% ainda no primeiro mês); 14% de exposição ao etanol, maioria nega exposição ao tabaco ou a fármacos impróprios; em 60%, houve intercorrências; em 17,3%, diagnósticos pré-natais de malformações ou infecções congênitas. Parto: 88,5% em hospital; 72% a termo e 21,8% pré-termos; via vaginal em 54,5% e cesárea em 35,3%; apresentação cefálica em 86%. Condições do recém-nato: 39% tem suspeita de hipóxia; 46,8% necessitaram de internação em UTI e, 44,5% estiveram internados por mais de oito dias. Anomalias do sistema nervoso central (SNC) foram encontradas em 61,5%, incluindo aquelas que puderam ser observadas pelas simples medida de perímetro cefálico - microcefalia (50%), macrocefalia (5%). A maioria não teve acesso aos exames complementares fundamentais à investigação diagnóstica (imagem de SNC, cariótipo, avaliação auditiva e oftalmológica). CONCLUSÕES: Reitera-se a carência de estudos sobre o tema; a iniquidade do acesso ao diagnóstico e ao tratamento; a necessidade de qualificação da assistência ao pré-natal e ao parto e, da implementação de fato da Política Nacional de Atenção Integral em Genética Clínica.

L'écotoxicité de différentes nanoparticules de carbone (NPC) a été évaluée chez des organismes aquatiques, en particulier chez Xenopus laevis. Il a été montré que la surface des NPC est le paramètre le plus pertinent pour décrire l'inhibition de croissance chez le xénope, indépendamment de leur forme allotropique et de leur état de dispersion. L'induction des micronoyaux a aussi été étudiée chez le xénope, et l'oxyde de graphène (GO) s'est révélé génotoxique à faible dose, résultat corroboré par l'étude de l'expression des gènes. Les mécanismes de toxicité impliqués seraient notamment liés aux fonctions oxygénées de la particule. De plus, le GO a aussi entrainé de la génotoxicité chez Pleurodeles waltl. et de la tératogénicité, des retards de développement et de l'inhibition de croissance chez Chironomus riparius. La mise en interaction de ces organismes au sein d'un mésocosme a également conduit à l'observation de génotoxicité chez le pleurodèle en présence de GO. / The ecotoxicity of different carbon-based nanoparticles (CNPs) was assessed in freshwater organisms, especially in Xenopus laevis. The surface of the CNPs was shown to be the more relevant parameter to describe the growth inhibition in Xenopus, regardless of their allotropic form and their state of dispersion. Micronucleus induction was also studied in Xenopus and graphene oxide (GO) was found genotoxic at low dose. This result was in compliance with the study of genes expression. The involved toxicity mechanisms would be related to the oxidized functions of the CNP. Moreover, GO was also found responsible for genotoxicity in Pleurodeles waltl. and for teratogenicity, development delay and growth inhibition in Chironomus riparius. These organisms have finally been put together in a mesocosm, which has also led to genotoxicity in Pleurodeles in the presence of GO.

Clefts of orofacial komplex are the most common birth development defects. One of them is Pierre Robin sequence, which is characterized by presence of micrognathia, glossoptosis and upper airway obstruction. Because of these symptoms, isolated cleft palate "U" or "V" shaped can be part of the diagnose. Other clinical manifestations are feeding difficulties, obstructive sleep apnea syndrome and / or gastroesophageal reflux disease. The aim of the treatment is to secure the airway and the child's thriving after birth by using conservative or invasive treatment methods. Choosing of methods and procedures should be established by multidisciplinary cooperation. The other part of diploma thesis is trying to find out, which clinical manifestation are the most common in patients from the Czech Republic compare to foreign patients and the differences in management of the treatment. Furthermore we are trying to investigate, whether there is higher percentage of patients with delayed neuromotor development among PRS patients, which are under physical therapy. The last part is trying to find out the relationship between the poor posture and PRS diagnose in children age 4 - 6 years.