Case report: Cornelia de Lange Syndrome (CDLS)

The Cornélia of Lange´s syndrome is a genetic anomaly, described and published by Cornelia Catharina of Lange in 1933, however, their aspects were described previously by Winfried Robert Clemens Brechmann in 1916, that’s why it is also known as Brachmann of Lange’s syndrome. The most frequent clinical characteristics include typical face dismorfia, variable degree of mental delay, anomalies of the hands and feet, multiple malformations, retardation of the pre and postnatal physical development and microcephaly variable intellectual compromising. Some facial characteristics are peculiar and they are mixed with the inherited lines of their own family, the united brows, the long lashes, the small nose, the round face, the fine lips and lightly inverted. As oral manifestations they present micrognathia, dental crowding, periodontal disease, delayed dental eruption, enamel hypoplasia, erosion of the enamel and dentine caused by stomach acids of the gastroesophageal reflux and atresia of the dental arches. The purpose of this paper is to present a clinical report of a boy bearer of this syndrome assisted at CAOE - FOA - UNESP, emphasizing the importance of multiprofessional team for the diagnosis and treatment of this syndrome.

Diagnosis and management of gastroesophageal reflux disease

Gastroesophageal reflux disease (GERD) is probably one of the most prevalent diseases in the world that also compromises the quality of life of the affected significantly. Its incidence in Brazil is 12%, corresponding to 20 million individuals. OBJECTIVE: To update the GERD management and the new trends on diagnosis and treatment, reviewing the international and Brazilian experience on it. METHOD: The literature review was based on papers published on Medline/Pubmed, SciELO, Lilacs, Embase and Cochrane crossing the following headings: gastroesophageal reflux disease, diagnosis, clinical treatment, surgery, fundoplication. RESULTS: Various factors are involved on GERD physiopathology, the most important being the transient lower esophageal sphincter relaxation. Clinical manifestations are heartburn, regurgitation (typical symptoms), cough, chest pain, asthma, hoarseness and throat clearing (atypical symptoms), which may be followed or not by typical symptoms. GERD patients may present complications such as peptic stenosis, hemorrhage, and Barrett's esophagus, which is the most important predisposing factor to adenocarcinoma. The GERD diagnosis must be based on the anamnesis and the symptoms must be evaluated in terms of duration, intensity, frequency, triggering and relief factors, pattern of evolution and impact on the patient's quality of life. The diagnosis requires confirmation with different exams. The goal of the clinical treatment is to relieve the symptoms and surgical treatment is indicated for patients who require continued drug use, with intolerance to prolonged clinical treatment and with GERD complications. CONCLUSION: GERD is a major digestive health problem and affect 12% of Brazilian people. The anamnesis is fundamental for the diagnosis of GERD, with special analysis of the typical and atypical symptoms (duration, intensity, frequency, triggering and relief factors, evolution and impact on the life quality). High digestive endoscopy and esophageal pHmetry are the most sensitive diagnosctic methods. The clinical treatment is useful in controlling the symptoms; however, the great problem is keeping the patients asymptomatic over time. Surgical treatment is indicated for patients who required continued drug use, intolerant to the drugs and with complicated forms of GERD.

Postnatal longitudinal evaluation of children diagnosed with prenatal hydronephrosis: insights in natural history and referral pattern

Objectives Clinical significance and management of prenatal hydronephrosis (PNH) are sources of debate. Existing studies are flawed with biased cohorts or inconsistent follow-up. We aimed to evaluate the incidence of pathology in a large cohort of PNH and assess the biases and outcomes of this population. Methods We reviewed 1034 charts of fetuses with PNH. Records of delivered offspring were reviewed at a pediatric center and analyzed with respect to prenatal and postnatal pathology and management. Results Prenatal resolution of hydronephrosis occurred in 24.7% of pregnancies. On first postnatal ultrasound, some degree of dilatation was present in 80%, 88% and 95% of mild, moderate and severe PNH cases, respectively. At the end of follow-up, hydronephrosis persisted in 10%, 25% and 72% of children, respectively. Incidence of vesicoureteral reflux did not correlate with severity of PNH. Children with postnatal workup had more severe PNH than those without. Conclusions Despite prenatal resolution totalizing 25%, pelvic dilatation persisted on first postnatal imaging in most cases, thus justifying postnatal ultrasound evaluation. Whereas most mild cases resolved spontaneously, a quarter of moderate and more than half of severe cases required surgery. Patients with postnatal imaging and referral had more severe PNH, which could result in overestimation of pathology. (c) 2012 John Wiley & Sons, Ltd.

Gastroesophageal reflux, dental erosion, and halitosis in epidemiological surveys: a systematic review

In published studies, it has been suggested that dental wear is associated with gastroesophageal reflux disease (GERD). This systematic review was carried out to evaluate the association of GERD, dental erosion, and halitosis and to compare the indices adopted in epidemiological surveys. The Medline database (until October, 2011) was searched systematically to identify studies evaluating the prevalence of oral alterations, such as dental erosion and halitosis, in patients with GERD symptoms. Two reviewers analyzed all reports and the selected studies were evaluated according to the quality of evidence, using the validated Newcastle–Ottawa Quality Assessment Scale. Full-text copies of a total of 32 publications were obtained in duplicate. Sixteen publications were identified among the citations in the Bibliographic lists of studies that fulfilled the exclusion/inclusion criteria and quality of evidence. The relationship between dental erosion and GERD patients was significant in only seven studies. According to three studies, halitosis could be one of several extraesophageal symptoms or manifestations in GERD patients. In one study, it was found that the mucosa of GERD patients was significantly more acidic in comparison with that of the control group. This systematic review showed that there is a relationship between GERD and oral diseases (dental erosion and halitosis). The epidemiological surveys used different indices to analyze GERD and dental erosion. Further research could investigate the best method for assessing the two diseases.

Videocirurgia na criança: estado da arte. Experiência com 1408 procedimentos no Instituto da Criança "Pedro de Alcântara"

A videocirurgia em Cirurgia Pediátrica encontra um imenso campo de aplicações ainda, infelizmente, pouco explorado. São poucos os serviços que utilizam rotineiramente essa via de acesso e são escassas as referências nacionais publicadas. O Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (ICr) há uma década e meia a utiliza e hoje a videocirurgia é a via de primeira escolha para tratar, entre outras doenças, o refluxo gastresofagiano, a colecistopatia calculosa, o testículo não palpável e o megaesôfago. Neste artigo relataremos a experiência em videocirurgia pediátrica do ICr, adquirida com 1408 pacientes operados, para divulgar e popularizar esta via de acesso, útil e benéfica para um grande número de situações e ainda subutilizada em Cirurgia Pediátrica.

Mal sem mudança - Notas iniciais sobre Angústia

O ensaio procura apontar as linhas de força que compõem o caráter dramático do narrador em Angústia. Estuda, para tanto, o movimento circular da escrita, cuja forma embaralha tempos e espaços de modo a sugerir o desconcerto. Como resultado parcial, centra-se, em termos de análise, nos primeiros fragmentos do romance a fim de compreender o refluxo das imagens que perfazem o enredo.

Processamento auditivo, leitura e escrita na síndrome de Silver-Russell: relato de caso

O objetivo deste trabalho foi descrever os aspectos fonoaudiológicos de processamento auditivo, leitura e escrita de um paciente do gênero masculino com diagnóstico de síndrome de Silver-Russell. Aos dois meses de idade o paciente apresentava déficit pôndero-estatural; frontal amplo; orelhas pequenas, proeminentes e com baixa implantação; palato ogival; discreta micrognatia; esclera azulada; manchas café-com-leite; sobreposição do primeiro e segundo artelhos à direita; refluxo gastroesofágico; voz e choro agudos; atraso leve no desenvolvimento neuropsicomotor; e dificuldade de ganhar peso, recebendo o diagnóstico da síndrome. Na avaliação psicológica, realizada aos 8 anos de idade, o paciente apresentou nível intelectual normal, com dificuldades cognitivas envolvendo atenção sustentada, concentração, memória verbal imediata e processos emocionais e comportamentais. Para avaliação da leitura e escrita e de seus processos subjacentes, realizada aos 9 anos de idade foram utilizados os testes de Compreensão Leitora de Textos Expositivos, Perfil das Habilidades Fonológicas, Teste de Discriminação Auditiva, escrita espontânea, Teste de Desempenho Escolar (TDE), teste de Nomeação Automática Rápida e prova de memória de trabalho fonológica. Apresentou dificuldades em todos os testes, estando as pontuações abaixo do esperado para sua idade. Na avaliação do processamento auditivo foram realizados testes monóticos, dióticos e dicóticos. Foram encontradas alterações nas habilidades de atenção auditiva sustentada e seletiva, memória sequencial para sons verbais e não-verbais, e resolução temporal. Conclui-se que o paciente apresenta alterações na aprendizagem da leitura e escrita que podem ser secundários a síndrome de Silver-Russell, porém tais dificuldades também podem ser decorrentes das alterações em habilidades do processamento auditivo.

Mutations in Uroplakin IIIA are a rare cause of renal hypodysplasia in humans

BACKGROUND: Renal hypodysplasia, characterized by a decrease in nephron number, small overall kidney size, and maldeveloped renal tissue, is a leading cause of chronic renal failure in young children. Familial clustering and renal hypodysplasia phenotypes observed in transgenic animal models suggest a genetic contribution. Uroplakin IIIa (encoded by UPIIIA) is an integral membrane protein present in urothelial plaques, and the murine UPIIIa knockout is associated with urothelial anomalies and vesicoureteral reflux. De novo UPIIIA mutations recently were identified in 4 of 17 patients with severe bilateral renal adysplasia. METHODS: To evaluate the overall role of UPIIIA in human renal hypodysplasia pathogenesis, we performed UPIIIA mutation analysis in a cohort of 170 pediatric patients affected by severe unilateral or bilateral renal hypodysplasia. Eighty-one patients were affected by bilateral nonobstructive renal hypodysplasia; of these, 61 were without vesicoureteral reflux. Eighty-four patients presented with unilateral nonobstructive renal hypodysplasia, including 24 patients with unilateral multicystic dysplastic kidneys. Family history was positive in 11%. RESULTS: Mutation analysis showed 2 heterozygous mutations not observed in 200 race-matched control chromosomes. In only 1 family was distribution of the UPIIIA mutation consistent with a disease-causing effect. This de novo missense mutation (Gly202Asp) was identified in a patient with unilateral multicystic dysplastic kidneys. The second (intronically located) mutation appeared unlikely to be disease causing because it did not segregate with an obvious disease phenotype in the affected family. CONCLUSION: Our results indicate that de novo mutations in UPIIIA can be involved in defective early kidney development, but probably constitute only a rare cause of human renal hypodysplasia in a minor subset of individuals.

Scores and stages in nephrology.

In this article we review the most relevant acronyms, scores and classifications in the fields of nephrology and urology, including the newest definitions of acute kidney injury and chronic kidney diseases. We will also present a short overview of the histopathological Lupus nephritis classification, the renal cysts Bosniak classification and the vesicoureteral reflux grading.

Ultrassonografia vascular comparada à intravascular no diagnóstico das obstruções venosas ilíacas em portadores de insuficiência venosa crônica

Introdução: O tratamento da Insuficiência Venosa Crônica (IVC) é baseado na correção dos refluxos e obstruções ao fluxo sanguíneo venoso. A detecção, a gravidade e o tratamento dessas obstruções venosas, responsáveis pelos sinais e sintomas da IVC, têm sido recentemente estudados e melhor compreendidos. Estes estudos não definem qual o grau de obstrução significativa nem os critérios ultrassonográficos para sua detecção. O objetivo deste estudo foi determinar critérios ultrassonográficos para o diagnóstico das obstruções venosas ilíacas, avaliando a concordância deste método com o ultrassom intravascular (UI) em pacientes portadores de IVC avançada. Métodos: Foram avaliados 15 pacientes (30 membros; 49,4 ± 10,7 anos; 1 homem) com IVC inicial (Classificação Clínica-Etiológica-Anatômica-Physiopatológica - CEAP C1-2) no grupo I (GI) e 51 pacientes (102 membros; 50,53 ± 14,5 anos; 6 homens) com IVC avançada (CEAP C3-6) no grupo II (GII) pareados por sexo, idade e etnia. Todos pacientes foram submetidos à entrevista clínica e à ultrassonografia vascular com Doppler (UV-D), sendo obtidas as medidas de fasicidade de fluxo, os índices de fluxo e velocidades venosas femorais, e as relações de velocidade e de diâmetro da obstrução ilíaca. Foi analisado o escore de refluxo multisegmentar. Os indivíduos do GI foram avaliados por 3 examinadores independentes. Os pacientes do GII foram submetidos ao UI, sendo obtidos a área dos segmentos venosos comprometidos e comparados com os resultados obtidos pelo UV-D, agrupados em 3 categorias: obstruções < 50%; obstruções entre 50-79% e obstruções >= 80%. Resultados: A classe de severidade clinica CEAP predominante no GI foi C1 em 24/30 (80%) membros, e C3 em 54/102 (52,9%) membros no GII. O refluxo foi severo (escore de refluxo multisegmentar >= 3) em 3/30 (10%) membros no grupo I, e em 45/102 (44,1%) membros no grupo II (p<0,001). Houve uma concordância moderadamente elevada entre o UV-D e o UI, quando agrupadas em 3 categorias (K=0,598; p<0,001), e uma concordância elevada quando agrupadas em 2 categorias (obstruções <50% e >= 50%) (K= 0,784; p<0,001). Os melhores pontos de corte e sua correlação com o UI foram: índice de velocidade (0,9; r=-0,634; p<0,001); índice de fluxo (0,7; r=-0,623; p<0,001); relação de obstrução (0,5; r=0,750; p<0,001); relação de velocidade (2,5; r= 0,790; p<0,001); A ausência de fasicidade de fluxo esteve presente em 88,2% dos pacientes com obstrução >=80% ao UV-D. Foi construído um algoritmo ultrassonográfico vascular, utilizando as medidas e os pontos de corte descritos obtendo-se uma acurácia de 79,6% para 3 categorias (K=0,655; p<0,001) e de 86,7% para 2 categorias (k=0,730; p<0,001). Conclusões: O UV-D apresentou uma concordância elevada com o UI na detecção de obstruções >= 50%. A relação de velocidade na obstrução >= 2,5 é o melhor critério para detecção de obstruções venosas significativas em veias ilíacas.

Síndrome de bronquiolite obliterante após o transplante pulmonar : factores de risco

Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2014

Pólipos hiperplásicos da junção gastro-esofágica em idade pediátrica

Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2014

A alfarroba como fonte de ingredientes bioactivos: fibra alimentar, polifenóis e ciclitóis

Dissertação para obtenção do grau de Mestre no Instituto Superior de Ciências da Saúde Egas Moniz

Characterization of the methanol recovery process at Prio Biocombustíveis S. A.

In a industrial environment, to know the process one is working with is crucial to ensure its good functioning. In the present work, developed at Prio Biocombustíveis S.A. facilities, using process data, collected during the present work, and historical process data, the methanol recovery process was characterized, having started with the characterization of key process streams. Based on the information retrieved from the stream characterization, Aspen Plus® process simulation software was used to replicate the process and perform a sensitivity analysis with the objective of accessing the relative importance of certain key process variables (reflux/feed ratio, reflux temperature, reboiler outlet temperature, methanol, glycerol and water feed compositions). The work proceeded with the application of a set of statistical tools, starting with the Principal Components Analysis (PCA) from which the interactions between process variables and their contribution to the process variability was studied. Next, the Design of Experiments (DoE) was used to acquire experimental data and, with it, create a model for the water amount in the distillate. However, the necessary conditions to perform this method were not met and so it was abandoned. The Multiple Linear Regression method (MLR) was then used with the available data, creating several empiric models for the water at distillate, the one with the highest fit having a R2 equal to 92.93% and AARD equal to 19.44%. Despite the AARD still being relatively high, the model is still adequate to make fast estimates of the distillate’s quality. As for fouling, its presence has been noticed many times during this work. Not being possible to directly measure the fouling, the reboiler inlet steam pressure was used as an indicator of the fouling growth and its growth variation with the amount of Used Cooking Oil incorporated in the whole process. Comparing the steam cost associated to the reboiler’s operation when fouling is low (1.5 bar of steam pressure) and when fouling is high (reboiler’s steam pressure of 3 bar), an increase of about 58% occurs when the fouling increases.

O romance histórico da colonização : a figuração artística transgressiva do passado em O tetraneto del-rei, de Haroldo Maranhão, A gloriosa família, de Pepetela, e As naus, de António Lobo Antunes

Tese (doutorado)—Universidade de Brasília, Instituto de Letras, Instituto de Letras, Departamento de Teoria Literária e Literaturas, Programa de Pós-Graduação em Literatura, 2016.