Thesis (M.S.)--University of Wisconsin--Madison, 1983. / Typescript. eContent provider-neutral record in process. Description based on print version record. Includes bibliographical references (leaves 109-115).

Theses (M.S.)--University of Wisconsin-Madison, 1992. / Typescript. eContent provider-neutral record in process. Description based on print version record. Includes bibliographical references (leaves 83-91).

INTRODUCTION: Currently, patients diagnosed with Congenital Heart Disease (CHD) are living longer lifespans, leading to an increased number of these patients presenting for non-cardiac procedures/surgeries. Little research has been recently done analyzing intraoperative complications/risks for CHD patients undergoing non-cardiac surgeries. This study aims to identify common intraoperative events experienced by CHD patients undergoing non-cardiac surgeries using more recent data, while at the same time analyzing to see if there is any difference in frequency of intraoperative events experienced between different types of CHD diagnoses. METHODS: After receiving IRB approval, patients with CHD presenting for non-cardiac procedures/surgeries between the years 2008 and 2012 were pulled from Boston Children’s Hospital’s Electronic Medical records. 1,024 non-cardiac surgical encounters from 362 patients were analyzed to determine average age, average weight, patient gender, average ASA class, frequency of CHD diagnoses, ventricular function, type of non-cardiac procedure, premedication administration, type of induction and type and frequency of intraoperative events experienced. The 1,024 encounters were divided into two groups: those done in patients diagnosed with single ventricle physiology (n=79) and those done in patients diagnosed with non-single ventricle physiology (n=945). Unpaired Mann-Whitney tests were performed to determine if there was a significant difference in overall and specific intraoperative event occurrence between the single ventricle and non-single ventricle groups. RESULTS: Average age and weight at the time of these surgical encounters was 4.86 years and 20.57 Kg. A majority of the surgical encounters were done in males (59.2%). Atrial septal defect was the most common type of CHD, and most of the patients in these surgical encounters received an ASA class of 3. Intraoperative events occurred in 24.4% of the surgical encounters with cardiovascular events being the most common (44.82% of total events). Other events made up 30.49% of events experienced intraoperatively, with respiratory events making up the remaining 24.70%. There was a significant difference in the occurrence of overall events between the single ventricle and non-single ventricle group (P<0.0001). Additionally, there was a significant difference in the occurrence of cardiovascular events (P<0.0001) and Other events (P=0.0001) between the single ventricle and non-single ventricle groups. There was no significant difference in the occurrence of respiratory events between the two groups (P=0.648). DISCUSSION: The most common type of intraoperative event experienced by CHD patients during a non-cardiac surgery was cardiovascular events. Significantly more overall intraoperative events, including cardiovascular and other events, occurred in surgical encounters performed on CHD patients exhibiting single ventricle physiology than those encounters done on CHD patients with a non-single ventricle physiology. Results of this study suggest that it would be likely for CHD patients to have a cardiovascular event occur during non-cardiac surgery and that this may be more likely in patients with a single ventricle physiology. This study was subjected to the limitations of retrospective chart review, as well as missing and infrequent documentation. Future analysis will look to find correlations between the occurrence of intraoperative events, and demographic and procedure variables analyzed in this study. / 2017-06-16T00:00:00Z

OBJECTIVES: Congenital heart disease or CHD is a condition that affects 8 out of every 1,000 newborns. Every year more than 35,000 newborns are diagnosed with a congenital heart disease in the United States. Neonates and children with congenital heart disease are at increased risk for thrombotic events, especially those with a single ventricle physiology. The objective of this study was to assess the incidence and to identify the predictors of thrombosis in neonates and children with surgical and non-surgical heart diseases. METHODS: We performed a retrospective analysis of the Health Care and Cost Use Project Kid’s Inpatient Database. Neonates and children with a congenital heart disease were identified using the international classification of disease, 9th revision, clinical modification (ICD-9 CM) diagnostic codes, and grouped into two sub-categories of surgical heart and non-surgical heart diseases. These groups were further divided into four types of lesions: septal defects, single ventricle physiology, right ventricle outflow tract obstruction, and left ventricle outflow tract obstruction. Demographic characteristics, the presence of co-morbidities, the incidence of any thrombotic events, mortality rate, and the presence of additional complications such as acute kidney injury, sepsis, neurologic complications, the need for extracorporeal membrane oxygenation or ventricular assist device were also collected using ICD-9 CM codes. After propensity-matched analysis, neonates and children with a surgical congenital heart disease were compared with those with a non-surgical heart disease. We used uni- and multivariable logistic regression analysis to identify the predictors associated with the incidence of thrombotic events in both sub-group. RESULTS: In children with surgical heart disease, the incidence of thrombosis was 3.90%, compared with 2.13% in children with non-surgical heart disease. Furthermore, those with single ventricle physiology (surgical 2.13%; non-surgical 3.41%) or right ventricle outflow tract obstruction (surgical 1.54%; non-surgical 1.66) had the highest incidence of thrombosis. In addition to demographic characteristics (e.g. age) and the type of congenital heart disease, we observed that extracorporeal membrane oxygenation (ECMO) or ventricular assist device(VAD), the presence acute kidney injury, sepsis, and coagulopathy were strong predictors for the development of thrombotic events. CONCLUSIONS: Children with both surgical and non-surgical heart disease have an increased risk for thrombotic events, but those with a single ventricle physiology or a right ventricle outflow tract obstruction had a further increased risk.

Diabetes and congenital hyperinsulinism (CHI) are severe diseases affecting the pancreas. Current models for testing drugs to treat these diseases are in vivo in rodents or isolated rodent islets. Differences between the human and rodent pancreas, and ethical issues, mean that in vitro human models are needed. To develop a novel in vitro model for pancreatic diseases, mesenchymal stem cells (MSCs) and induced pluripotent stem cells (iPSCs) were derived from the pancreas of patients with CHI. MSCs from three forms of CHI were phenotypically normal for MSCs, and maintained the CHI-causing mutation. When compared to MSCs from bone marrow, the CHI pancreatic MSCs expressed pancreas-specific gene ISL1 and showed promoter hypomethylation of other pancreatic genes, including PDX1. The CHI pMSCs could be differentiated to cells resembling immature beta-cells, with some beta-cell gene expression (INS, PDX1), but no glucose responsive insulin secretion. CHI associated hypersecretion of insulin was not seen as the ATP-sensitive potassium KATP channels were not being expressed. Addition of the Wnt inhibitor DKK1 markedly enhanced differentiation via induction of neuronal genes. Alongside high insulin secretion, CHI also features increased proliferation. CHI MSCs were also hyperproliferative, and showed alterations to the cell cycle. These changes were related to p27Kip1 localisation, a known affected protein in CHI tissue, and CDK1, a novel regulator for CHI. iPSCs were also derived from focal CHI MSCs and were also phenotypically normal, but did not maintain the pancreatic hypomethylation present in MSCs. The CHI iPSCs were efficiently differentiated to definitive endoderm and PDX1 positive cells. Terminally differentiated iPSCs were endocrine, but were not mature beta-cells. In conclusion, authentic MSCs and iPSCs were derived for the first time from patients with CHI. These stem cells could be differentiated towards beta-cells, but mature glucose responsive beta-cells were not produced. MSC derived beta-like cells secreted insulin but did not have KATP channels, whereas iPSC derived beta-like cells had KATP channel gene expression but not INS. With further optimisation to resolve these, CHI stem cell derived beta-cells may be used for in vitro modelling. Further, the undifferentiated MSCs only show hyperproliferation associated with p27Kip1 and CDK1 and so can be a useful resource for modelling hyperproliferation seen in CHI.

Orientador: Alvimar José da Costa / Coorientador: Gilson Pereira de Oliveira / Banca: Maria Cecília Rui Luvizotto / Banca: João Luis Garcia / Banca: Carlos Noriyuki Kaneto / Banca: Paulo Henrique Franceschini / Resumo: O elevado índice de ovinos naturalmente infectados por Toxoplasma gondii, a grande possibilidade destes animais se reinfectarem com este protozoário e a inexistência de dados sobre a transmissão congênita em uma reinfecção, motivaram a realização deste projeto de pesquisa. O objetivo deste experimento foi estudar a transmissão congênita em ovelhas, infectadas e reinfectadas experimentalmente com oocistos de T. gondii, em três fases gestacionais. Vinte ovelhas em idade reprodutiva, sorologicamente negativas para T. gondii (RIFI-IgG), foram selecionadas e primoinfectadas experimentalmente com a cepa ME49 (Dia zero). Três carneiros, sorologicamente negativos para toxoplasmose, neosporose, leptospirose e brucelose, foram utilizados para monta natural (RIFI≤512). Posteriormente ao diagnóstico de gestação, estas ovelhas foram distribuídas em quatro grupos experimentais: GI - cinco ovelhas reinfectadas com T. gondii no 40º dia de gestação (DG), GII - cinco no 80º DG, GIII - cinco no 120º DG e GIV - cinco receberam solução salina no 120º DG (controle não reinfectado). Cinco fêmeas sorologicamente negativas (RIFI<64) para infecção toxoplásmica foram mantidas como controle negativo (não infectado) - GV. Sete dias antes da primoinfecção, imediatamente antes da inoculação, a cada três dias até o 30º dias pós-inoculação e a cada sete dias até o término da gestação, exames clínicos e pesquisa de anticorpos (RIFI-IgG) contra T. gondi foram realizados nas 25 ovelhas. Exames ultrassonográficos foram efetuados para diagnóstico de gestação, posteriormente à reinoculação, a periodicidade deste exame foi quinzenal. Amostras de sangue (soro), de todos os cordeiros provenientes das ovelhas experimentais foram obtidas, imediatamente após o nascimento, no 3º e 14º dia de idade, para... (Resumo completo, clicar acesso eletrônico abaixo) / Abstract: The high occurrence of naturally infected sheep with Toxoplasma gondii, the great possibility of reinfection and the lack of data on congenital transmission in a reinfection were the motivation of this research project. The aim this study was evaluate the congenital transmission in experimentally reinfected and infected ewes, by oocysts T. gondii, in three pregnancies phases. Twenty ewes, negative serologically for T. gondii (indirect fluorescent antibody test-IgG), were selected and experimentally infected with ME49 strain (Day0). Three ram, negative serologically for toxoplasmosis, neosporosis, leptospirosis and brucellosis were used for natural mating (IFAT≤512). After the diagnosis of pregnancy, these ewes were distributed in four experimental groups: GI - five ewes reinfected with T. gondii on the 40th day of gestation (DG), GII - five in the 80th DG, GIII - DG 120th in five and GIV - five received saline solution in 120th DG (unreinfected). Five ewes, negative serologically (IFA <64) for T. gondii infection were kept as negative control (uninfected) - GV. Seven days before the first infection, immediately prior to inoculation, every three days until the 30th day after inoculation and every seven days until the end of pregnancy, clinical examinations and blood samples (IFAT-IgG against T. gondii) were performed in 25 ewes. Ultrasonographic examinations were performed in the diagnosis of pregnancy and fortnightly after reinfection. Serum samples, from all the lambs were obtained immediately after birth (pre-colostral), at 3 and 14 days of life, for T. gondii (IFAT-IgG). Parasitism by T. gondii was investigated (histopathology, mouse inoculation and PCR) in tissue fragments of female and fetuses, stillbirths and/or dead lambs after birth. Twenty ewes showed T. gondii antibodies specific on post-inoculation day (PID) 11. The most serological title... (Complete abstract click electronic access below) / Doutor

Orientador: Adriano Dias / Banca: Maria Rita Carvalho Garbi Novaes / Banca: Leila Bernarda Donato Gottems / Resumo: A sífilis congênita apresenta elevada morbidade e mortalidade. Permanece com altas taxas de transmissão no Brasil e representa um desafio para a saúde pública, apesar do tratamento acessível de baixo custo. O objetivo deste trabalho foi descrever o perfil terapêuticoassistencial da sífilis congênita na SES/DF. Trata-se de um estudo descritivo, com dados secundários, a partir das identificações dos casos em 2008, pelos hospitais selecionados para o estudo e notificados junto a Diretoria de Vigilância Epidemiológica da SES/DF (DIVEP/DST/AIDS/DF), com a identificação dos 81 casos, buscou-se nos hospitais e centros de saúde, as informações relativas à sífilis congênita, dados obstétricos e epidemiológicos da mãe. Foram encontradas, 87,5% gestantes que fizeram o pré-natal, 17,3% gestantes que não realizaram VDRL no pré-natal. O tratamento dos RN foi inadequado quanto ao manejo clínico em 51,7%. Observou-se inconstância na realização dos exames: radiológico, hemograma e líquor cefalorraquidiano, encontrado campos em branco ou ignorados em fichas de notificação compulsória, prontuários da mãe e da criança. Quanto ao acompanhamento das crianças até os 18 meses de vida e o seguimento terapêutico, não foi possível avaliar a aplicação do Protocolo do MS, devido a não localização de registros. Conclui-se que há falhas no controle da transmissão vertical da sífilis, nas intervenções terapêuticas e o seguimento das crianças com SC requer ações ordenadas, capacitação profissional, integração entre os serviços de assistência e vigilância / Abstract: Congenital syphilis has high morbidity and mortality. Remains with high transmission rates in Brazil and as a public health challenge, despite the affordable low cost treatment. The objective of this study was to describe the therapeutic -assistant profile of congenital syphilis in the SES / DF. It is a descriptive study ,using secondary data ,from the identification of cases in 2008, of hospitals selected for the study and reported along with the Directorate of Epidemiological Surveillance SES / DF (DIVEP / STD / AIDS / DF). With the identification of 81 cases, we seek at hospitals and health centers, information on congenital syphilis, obstetric and epidemiological data from the mother ,were surveyed, and then, with this, a profile of children with CS was made. Were found 87.5% pregnant women who received prenatal care, 17.3% women were not performed in this pregnancy VDRL, and treatment of newborns were inadequate and the clinical management in 51.7%. There was inconsistency in the examinations: X-rays, blood counts and cerebrospinal fluid, finding fields in blank or ignored in compulsory notification forms, such as charts of mother and child. The monitoring of children up to 18 months and therapeutic treatment witch the implementation of the Protocol to the MS was not possible to due to not finding records. We conclude that there are flaws in the control of vertical transmission of syphilis, in the therapeutic interventions in children. The class of SC requires actions ordered, professional capacitation, and integration of care services and supervision / Mestre

Introdução: O hipotireoidismo congênito possui prevalência de 1/4000 crianças nascidas vivas e pode ser causado por disgenesia tireoideana (80% dos casos) ou por defeitos de síntese hormonal (20% restantes). A disormonogênese tem sido associada a mutações nos genes: tireoglobulina, simportador sódio/iodo, tireoperoxidase, dual oxidase 2, e pendrina. A tireoglobulina é uma glicoproteína de 660KDa e funciona como matriz para a síntese dos hormônios tireoideanos. Até o momento 38 mutações inativantes, associadas a bócio e hipotireoidismo, foram identificadas no gene da tireoglobulina. Objetivos: Este estudo visou caracterizar mutações no gene da tireoglobulina em 13 pacientes brasileiros com bócio e hipotireoidismo congênito e verificar o efeito funcional da mutação A2215D identificada neste estudo. Casuística e Métodos: Foram estudados 13 pacientes com hipotireoidismo congênito por possível defeito de síntese de tireoglobulina. Foi utilizado DNA de sangue periférico de todos os pacientes e amostra de tecido da paciente portadora da mutação A2215D. Os métodos utilizados foram: amplificação e sequenciamento dos 48 exons e das junções exon/intron, transfecção de células de mamífero com plasmídeos contendo o cDNA da tireoglobulina mutada e não mutada, eletroforese de proteínas e hibridização com anticorpo específico, dosagem de tireoglobulina por fluoroimunoensaio indireto, quantificação de RNAm por PCR quantitativo em tempo real, imunohistoquímica, microscopia por coloração de hematoxilina/eosina e microscopia eletrônica e imunoeletrónica. Resultados: O defeito de síntese de tireoglobulina nos pacientes foi confirmado pela ausência de elevação do valor da tireoglobulina sérica 24 e 48hs após a aplicação de 0,45mg de TSH humano recombinante. No gene da tireoglobulina foram identificadas cinco mutações, sendo duas novas (Q2142X e IVS46-1G>A) e três já descritas na literatura (R277X, IVS30+1G>T e A2215D); 19 polimorfismos e 13 alterações em introns. Doze dos treze pacientes apresentaram mutações bialélicas (homozigose ou em heterozigose composta). O estudo funcional em células de mamíferos revelou diminuição da secreção da proteína mutada e no tecido do paciente portador da mutação A2215D mostrou: localização intracelular da tireoglobulina com ausência quase total no colóide; retículo endoplasmático rugoso de volume extremamente aumentado, presença de tireoglobulina dentro do retículo endoplasmático rugoso e baixo conteúdo de RNAm de tireoglobulina e da própria proteína. Também foram verificados baixo conteúdo de RNAm de genes tireoideanos (TPO, TTF1, PAX-8, NIS, receptor de TSH). Conclusão: Todas as mutações identificadas neste estudo explicaram o hipotireoidismo congênito diagnosticado nos pacientes. A mutação A2215D promoveu a retenção da proteína mutada dentro do retículo endoplasmático rugoso e diminuiu sua secreção para o colóide, ocasionando grave defeito de síntese hormonal e hipotireoidismo. A tireoglobulina endógena portadora da mutação A2215D poderia atuar como regulador da função tireoideana via supressão da expressão dos fatores de transcrição importantes na fisiologia da tireóide. / Introduction: Congenital hypothyroidism is one of the most common hereditary endocrine disorders, which affects 1:4000 newborns. Congenital hypothyroidism is caused by thyroid gland dysgenesis (80%) or inborn errors of thyroid hormone synthesis (20%). Genetic defects in thyroglobulin, pendrin, thyroperoxidase, dual oxidase 2, simporter sodium/iodine have been associated to dyshormonogenesis. Thyroglobulin is a large glycoprotein that functions as the matrix for thyroid hormone synthesis. At least 38 mutations in the TG gene have been identified in patients with thyroid dyshormonogenesis. Objectives: The aims of this study were to identify thyroglobulin gene mutations associated with congenital hypothyroidism in 13 Brazilian patients, and to determine the functional effect of the mutation A2215D identified in this study. Patients and methods: Thirteen patients with congenital hypothyroidism due to defective thyroglobulin synthesis were included. Peripheral blood DNA from all the patients and one thyroid tissue sample from a patient with the A2215D mutation were collected. Thyroglobulin exons and exons/introns borders were amplified by PCR and sequenced. Mammalian cells were transfected with expression vectors encoding mutated and non-mutated thyroglobulin cDNA. Immunoblots, determination of thyroglobulin concentrations, real time PCR to quantify mRNA expression, immunohistochemical analysis, hematoxilyn-eosin staining and electronic and immunogold microscopy were performed. Results Abnormal thyroglobulin synthesis and secretion was confirmed by the absence of a serum thyroglobulin elevation 24 and 48 hours after the stimulation with recombinant human TSH (0.45 mg). Molecular analysis revealed five mutations in the thyroglobulin gene, 2 novel (Q2142X and IVS46-1G>A) and three previously described mutations (R277X, IVS30+1G>T and A2215D); 19 polymorphisms and 13 intronic alterations. Biallelic mutations (homozygous or compound heterozygous) in the thyroglobulin gene were identified in twelve of thirteen patients. Functional studies in mammallian cells showed low secretion of the mutated thyroglobulin (A2215D). The complete analysis of the thyroid tissue from a patient with the A2215D mutation revealed: mutant thyroglobulin in the follicular cell but not in the lumen, marked dilatation of the endoplasmic reticulum, thyroglobulin immunopositivity in the endoplasmic reticulum and low concentration of thyroglobulin protein and mRNA. Furthermore, low mRNA levels of thyroid genes (TPO, TTF1, PAX-8, NIS, receptor de TSH) were detected. Conclusions: All the identified thyroglobulin gene mutations explained the congenital goiter hypothyroidism of the patients. The mutation A2215D promoted the retention of the mutant thyroglobulin in the endoplasmic reticulum, decreased the thyroglobulin secretion to the colloid resulting in an impairment of thyroid hormone synthesis and congenital hypothyroidism. The endogenous A2215D mutant thyroglobulin could be considered a regulator of follicular function mediated by the transcriptional suppression of thyroid genes.

Submitted by Haroudo Xavier Filho (haroudo.xavierfo@ufpe.br) on 2016-10-07T18:07:19Z No. of bitstreams: 2 license_rdf: 1232 bytes, checksum: 66e71c371cc565284e70f40736c94386 (MD5) Carolina Paim Gomes de Freitas - Dissertação.pdf: 2606222 bytes, checksum: c1285c239db0c6bae33863737f8e0bca (MD5) / Made available in DSpace on 2016-10-07T18:07:19Z (GMT). No. of bitstreams: 2 license_rdf: 1232 bytes, checksum: 66e71c371cc565284e70f40736c94386 (MD5) Carolina Paim Gomes de Freitas - Dissertação.pdf: 2606222 bytes, checksum: c1285c239db0c6bae33863737f8e0bca (MD5) Previous issue date: 2016-02-26 / Fundamentos: A oximetria de pulso arterial foi descrita como um método de triagem para cardiopatias congênitas críticas. O estabelecimento de nomogramas para saturação pré- e pós-ductal no nosso meio pode colaborar para o refinamento de um método de triagem específico para nossa população. Objetivo: descrever e analisar os principais resultados dos nomogramas para saturação de oxigênio em neonatos triados para cardiopatias congênitas críticas na população paraibana. Metodologia: neonatos assintomáticos com idade gestacional a partir de 34 semanas foram triados para cardiopatias congênitas pelo exame físico e oximetria de pulso arterial em 20 centros do estado da Paraíba. Os resultados das saturações pré e pós-ductais foram comparadas entre diversos grupos com a utilização de testes não paramétricos. Resultados: um total de 44647 neonatos foram analisados. A média da saturação pré-ductal foi de 97,37% e a pós-ductal foi de 97,44%. Houve diferença estatística (p<0,001) entre as duas saturações em praticamente todos os grupos. A média da diferença entre as saturações foi de 0,062, com a grande maioria dos neonatos apresentando diferença ≤ 4%. Neonatos pré-termo tiveram saturações menores do que os nascidos a termo (p<0,001). Não houve diferenças entre os sexos. Conclusões: foram descritos os nomogramas das saturações de oxigênio pré e pósductal, assim como a diferença entre ambas, em mais de 44647 neonatos. Tais nomogramas podem ser úteis na elaboração de metodologias de triagem para cardiopatias congênitas críticas no nosso meio. / Fundamentals: the pulse oximetry was described as a method of screening for congenital heart defects. The establishment of nomograms for pre-and pós-ductal saturation among us can collaborate for the refinement of a screening method specific to our population. Objective: to describe and analyze the main results of nomograms for oxygen saturation in neonates screened for congenital heart defects in critical population of Paraiba. Methodology: asymptomatic neonates with gestational age from 34 weeks were screened for congenital heart disease by physical examination and blood pulse oximetry in 20 centers in the State of Paraíba. The results of the pre-and pós-ductais overruns were compared between groups using nonparametric tests. Results: a total of 44647 newborns were evaluated. The average pré-ductal was 97.37% saturation and the pós-ductal was 97.44%. There was statistical difference (p < 0.001) between the two buffer overruns in almost all groups. The average difference between was 0.062 overruns, with the vast majority of newborns showing difference ≤ 4%. Preterm neonates had smaller overruns than those born at term (p < 0.001). There was no difference between the sexes. Conclusions: nomograms were described of the oxygen saturations pre-and pósductal, as well as the difference between the two in more than 44647 newborns. Such nomograms can be useful in the elaboration of methodologies for screening for congenital heart disease in our reviews.

Orientador: Lilia Freire Rodrigues de Souza Li / Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas / Made available in DSpace on 2018-08-15T17:43:58Z (GMT). No. of bitstreams: 1 Pinheiro_AneliseCaldonazzo_M.pdf: 1837203 bytes, checksum: 87827cc0e4df67300b7cd93c385c096e (MD5) Previous issue date: 2010 / Resumo: O hipotireoidismo congênito (HC) é caracterizado pela falha na biosíntese dos hormônios tireoidianos (HT), desde o nascimento. Se a reposição hormonal não se fizer logo após o nascimento, podem ocorrer lesões irreversíveis e o desenvolvimento neuropsicomotor fica prejudicado, por isso deve-se ter atenção redobrada no tratamento das crianças com HC. Os objetivos do estudo foram: avaliar o desempenho das funções cognitivas utilizando testes psicométricos e resolução de problemas em crianças com o diagnóstico de hipotireoidismo congênito e verificar a associação com etiologia e dados bioquímicos. Após consentimento informado foram aplicados três testes psicométricos: Atenção Concentrada, Figura Complexa de Rey e Matrizes Progressivas de Raven. A avaliação assistida utilizou observação clínica e desafios matemáticos. A análise estatística utilizada foi Wilcoxon para dados não paramétrico. Foram avaliadas quarenta e duas crianças em acompanhamento na Unidade de Endocrinologia Pediátrica do Hospital de Clínicas da Universidade Estadual de Campinas (UMCAMP) e 42 controles, entre 5 a 15 anos pareados de acordo com o nível sócio-econômico e cultural. Pacientes com HC apresentaram capacidade cognitiva, coordenação visual-motora e tempo de execução semelhante às crianças do grupo controle. No entanto, elas tiveram um desempenho significativamente pior em testes de memória visual (p = 0,030) e tempo de atenção concentrada (p = 0,003). Na observação clínica, os pacientes com HC foram capazes de utilizar recursos semelhantes que o grupo controle para resolver as tarefas, mas eles apresentaram uma menor qualidade de desempenho, o que comprometeu a produção (p = 0,009). As três etapas envolvidas na resolução do problema: codificação, elaboração e execução de problemas matemáticos estavam comprometidas nos pacientes com HC, com pior desempenho na recepção de informação (p = 0,019), na integração da informação (p = 0,034), na representação inicial (p = 0,01), na memória de trabalho (p = 0,001), na ação exploratória (p = 0,046) e na utilização do sistema de ordem superior (p = 0,0001). Conseqüentemente, a avaliação final da execução das tarefas foi pior em pacientes com CH (p = 0,039). Embora os pacientes com HC tenham inteligência normal, eles apresentaram deficiências na execução da tarefa. Não houve diferença em desempenho entre os pacientes com diferentes diagnósticos etiológicos de CH. Utilizando o mesmo instrumento de avaliação, foi analisado o funcionamento das crianças com diagnóstico de HC. Os resultados revelaram dificuldade em integrar, categorizar e estabelecer a representação das relações entre os elementos do problema. Os pacientes com HC coletavam os dados de forma assistemática, saltando a lógica que deveria organizar e chegavam a respostas adequadas. Pacientes com HC, independente de seus diagnósticos etiológicos, ou do tempo de início do tratamento, apresentam comprometimento no processo de resolução de problemas matemáticos. Avaliações dinâmicas assistidas são capazes de perceber as alterações cognitivas sutis e com isso complementar a avaliação da equipe interdisciplinar, favorecendo melhor diagnóstico cognitivo e melhora efetiva do tratamento desses pacientes / Abstract: Congenital hypothyroidism (CH) is characterized by failure in the biosynthesis of thyroid hormones (TH), from birth. If therapy with TH is not started soon after birth, irreversible damage can occurs. Therefore attention in the treatment of children with CH should be taken. The objectives of the study were to evaluate the performance of cognitive functions using psychometric testing and problem solving in children diagnosed with congenital hypothyroidism and analyze its association with etiology and biochemical data. Forty-two children followed at the Pediatric Endocrinology Unit, Hospital de Clinicas, Universidade Estadual de Campinas (UNICAMP) aged between 5 and 15 years and 42 controls matched according to socio-economic and cultural were evaluated after informed consent. Three psychometric tests were performed: Visual Attention, Rey Complex Figure and Raven's Progressive Matrices. Dynamic assessment using clinical observation and mathematical challenges was performed in both groups and differences were determined using Wilcoxon nonparametric statistics. Patients with CH showed general intelligence, the visuomotor coordination and execution time similar to control children. However, they performed significantly worse on tests of visual memory (p = 0.030) and attention time (p = 0.003). On clinical observation, patients with HC were able to use resources similar to the control group to solve the tasks, but they had a lower quality of performance which compromised the production (p = 0.009). All steps involved in solving the problem: the codification, the elaboration and execution of mathematical problems were compromised in patients with CH. Dynamic assessment showed significant impairment on information reception (p = 0.019), on integration of information (p = 0.034), on initial representation (p = 0.01), on working memory (p = 0.001), on exploratory action (p = 0.046), and on the use of higher mental function (p = 0.0001). Consequently, the final evaluation of the tasks were impaired in patients with CH (p = 0.039). Although patients with HC have normal intelligence, they had deficiencies in the execution task. There was no difference on performance between patients with different etiologies of CH. Using the same method of dynamic assessment, the executive functioning of children with CH were analyzed. The results revealed difficulties in integrating, categorizing and establishing the representation of relations between the elements of the problem. Patients collected the data unsystematically, skipping the logic that organizes the thought leading to inappropriate answers. Therefore, we conclude that patients with CH, independently of their etiological diagnosis or the time of initial treatment, present impairment on the problem solving process. Dynamic assessment is able to identify subtle cognitive changes complementing the interdisciplinary evaluation, favoring better cognitive diagnosis and effective improvement of the treatment of patients / Mestrado / Saude da Criança e do Adolescente / Mestre em Saude da Criança e do Adolescente