Importância das alterações cromossômicas na etiologia da infertilidade

Pós-graduação em Pesquisa e Desenvolvimento (Biotecnologia Médica) - FMB

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.

O desenho-estória na atenção psicológica a crianças na fase pré-cirurgica

The hospitalization process generates stress and, for a child who has already experienced a surgery can suffer from threatening, anxiety and distress. This search examines the experiences of children indicated for different craniofacial surgery which in many cases require more than esthetic or reconstructive surgery. It is quantitative and qualitative study, descriptive and comparative. The sample is intentional and it is made up of ten children, five boys and five girls in the pre-surgical Hospital for Rehabilitation of Craniofacial Anomalies HRAC-USP, Bauru-SP. As a tool for data collection, the design-themed story and data are used from subsequent survey developed by Walter Trinca. The results indicate that the design-themed story is suitable for the identification of the kid's childhood experiences in helping to deal with the stressful situation. Some of the children reveal their feelings of anxiety and fear and manifest other defenses such as denial. In all cases it identifies emotional states of concern such as anxiety and fear, or also denial of those feelings. It was concluded by the need of creating more favorable conditions in order to identify and address childhood experiences compared to surgery in a hospital environment, proposing the designthemed story technique that reveals those experiences. It emphasizes the relevance of psychological intervention in the hospital environment, considering childhood fantasies and feelings that generate or intensify emotional states of anxiety, fear and distress in pre-surgical level.

Síndrome de Sturge-Weber: relato de caso

Contexto: É descrita uma síndrome congênita rara e suas manifestações típicas visando seu diagnóstico precoce. Descrição do caso: Pacientedo sexo feminino, com 15 anos de idade, com glaucoma congênito em acompanhamento pelo Serviço de Oftalmologia da UniversidadeEstadual Paulista (Unesp) foi encaminhada ao Serviço de Dermatologia com um ano de idade devido a manchas eritêmato-violáceasextensas distribuídas nos dois terços superiores da hemiface esquerda e em outras localidades do corpo desde o nascimento. A mãerelatava convulsões desde um ano e atraso do desenvolvimento neuropsicomotor. Nos antecedentes familiares, negava casos semelhantes.O diagnóstico da Síndrome de Sturge-Weber foi estabelecido pelo quadro clínico característico e pelos exames complementares quedemonstraram, no sistema nervoso central, atrofia e calcificação corticais, além de alterações oftalmológicas como glaucoma e buftalmo.Discussão: A síndrome de Sturge-Weber ocorre em 1 a cada 20.000 a 50.000 nascidos vivos e é caracterizada por malformações vascularesmanifestadas por manchas eritêmato-violáceas, mais conhecidas como manchas vinho do Porto , localizadas no território do ramooftálmico do nervo trigêmeo, com acometimento neurológico e possível acometimento ocular. O prognóstico depende das complicaçõesneurológicas, as quais não guardam relação com a extensão das lesões cutâneas. Conclusões: Relata-se afecção rara, cujo diagnósticoprecoce direciona o acompanhamento multidisciplinar.

Principais complicações perinatais da obesidade e do sobrepeso pré-gestacionais

Objetive: The goal of this review is to discuss the evidence regarding the impact of pre-pregnancy overweight and obesity on perinatal outcomes. Data Collection Method: We conducted a search for articles in the Medline, PubMed and Scielo databases covering the past 5 years, and reviewed the bibliographical references contained in the articles selected. Articles were selected by subjective evaluation in terms of methodology, sample size and year of publication. Summary of evidence: We found strong evidence linking excess weight before pregnancy with the development of birth defects, fetal and neonatal deaths and macrosomia,. Conclusions: Excess weight in the pre-pregnancy is an important risk factor for the health of the fetus, whose importance increases because it is a modifiable risk factor.

Análise molecular de pacientes com holoprosencefalia

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)