Navegando por Palavras-chave "hereditary"
Agora exibindo 1 - 4 de 4
Resultados por página
Opções de Ordenação
- ItemAcesso aberto (Open Access)Anestesia para tratamento intraparto extraútero (EXIT) em fetos com diagnóstico pré-natal de malformações cervical e oral: relato de casos(Sociedade Brasileira de Anestesiologia, 2012-06-01) Helfer, Daniel Corrêa [UNIFESP]; Clivatti, Jefferson [UNIFESP]; Yamashita, Américo Massafuni [UNIFESP]; Moron, Antonio Fernandes [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)BACKGROUND AND OBJECTIVES: Fetus prenatally diagnosed with neck tumors, or with any other disease that obstructs the airways, should not be treated conventionally, as the assistant physician has to face two challenges right after the infant's delivery: the limited time to establish the access to the potentially difficult airways and the lack of anesthesia of the neonate in case of instrumentation of the airways. The ex utero intrapartum treatment, i.e., the EXIT procedure consists of maintaining the fetoplacental circulation during the cesarean section, until the airways of the fetus be secured. CASE REPORTS: Female patient, 37 years old, G3P2, 38 weeks pregnant, having polyhydramnios and fetus diagnosed with large cervical masses by prenatal ultrasound. A cesarean section was performed using the EXIT procedure to enable safe access to the infant's airways. After hysterotomy, the fetus was intubated by direct laryngoscopy. The neonate was immediately transferred to another operating room, where cervical tumor resection of the neck tumor and tracheostomy were successfully performed. Female patient, 27 years old, G3P1A1, 32 weeks pregnant, whose fetus was prenatally diagnosed with a large oral tumor. As the tumor obstructed the fetus' airways, a tracheostomy was performed when the fetus underwent EXIT procedure. It was then possible to use direct laryngoscopy for neonate intubation. The fetus underwent tumor resection and was sent to the Neonatal Intensive Care Unit. CONCLUSIONS: Reports describe the successful use of general anesthesia with isoflurane for cesarean delivery followed by the EXIT procedure in fetus diagnosed with tumors obstructing the airways.
- ItemAcesso aberto (Open Access)Coloboma típico associado à síndrome de clivagem de câmara anterior e microcórnea: descrição de um caso(Conselho Brasileiro de Oftalmologia, 2004-02-01) Vlainich, Ana Regina Cruz; Allemann, Norma [UNIFESP]; Neustein, Isaac; Hospital do Servidor Público Estadual de São Paulo Departamento de oftalmologia Setor de ultra-som; Universidade Federal de São Paulo (UNIFESP); Hospital do Servidor Público Estadual de São Paulo Departamento de OftalmologiaThe authors describe a rare association of bilateral typical coloboma, microcornea and anterior chamber cleavage deficience. They also discuss the embriology and the difficulties to identify if the continuous and insidious vision impairment is due to coloboma or to other associated disease, like glaucoma. Supplementary tests, such as visual field, ophthalmoscopy, and tonometry are not reliable because of the presence of nistagmus and low visual acuity.
- ItemSomente MetadadadosNovel Complex ABCA4 Alleles in Brazilian Patients With Stargardt Disease: Genotype-Phenotype Correlation(Assoc Research Vision Ophthalmology Inc, 2017) Salles, Mariana Vallim [UNIFESP]; Motta, Fabiana Louise [UNIFESP]; da Silva, Elton Dias [UNIFESP]; Varela, Patricia [UNIFESP]; Costa, Karita Antunes; Filippelli-Silva, Rafael [UNIFESP]; Martin, Renan Paulo [UNIFESP]; Chiang, John (Pei-Wen); Pesquero, Joao Bosco [UNIFESP]; Ferraz Sallum, Juliana Maria [UNIFESP]PURPOSE. To analyze the presence of complex alleles of the ABCA4 gene in Brazilian patients with Stargardt disease and to assess the correlation with clinical features. METHODS. This was an observational cross-sectional study. Patients with a diagnosis of Stargardt disease who presented three pathogenic variants of the ABCA4 gene or who had variants previously described as complex alleles were included. The relatives of these probands were evaluated in the segregation analysis. The patients were evaluated based on age at symptom onset and visual acuity, and the clinical characteristics were classified according to the findings observed on autofluorescence examination. RESULTS. Among the 47 families analyzed, approximately 30% (14/47) presented complex alleles. The segregation analysis in 14 families with cases of Stargardt disease identified three novel complex alleles and one previously described complex allele. The known complex allele p.[Leu541Pro; Ala1038Val] was identified in two families. The novel complex alleles identified were p.[Leu541Pro; Arg1443His] in five families, p.[Ser1642Arg; Val1682 Val1686-dell in seven families, and p. [Pro1761Arg; Arg2106Cys] in one family. Furthermore, four new variants (p.Lys22Asn, p.Asp915Asn, p. Glu1447Val, and p. Pro1761Arg) were identified in the second allele of the ABCA4 gene. CONCLUSIONS. Segregation analysis is important in order to confirm the molecular diagnosis of patients with Stargardt disease, given the frequency of complex alleles in the ABCA4 gene. The various pathogenic variation combinations observed in this study were associated with different phenotypes.
- ItemSomente MetadadadosPROM1 gene variations in Brazilian patients with macular dystrophy(Taylor & Francis Inc, 2017) Salles, Mariana Vallim [UNIFESP]; Motta, Fabiana Louise Teixeira [UNIFESP]; Silva, Elton Dias da [UNIFESP]; Teixeira, Patricia Varela Lima [UNIFESP]; Costa, Karita Antunes [UNIFESP]; Silva, Rafael Filippelli da [UNIFESP]; Martin, Renan Paulo [UNIFESP]; Pesquero, João Bosco [UNIFESP]; Sallum, Juliana Maria Ferraz [UNIFESP]Background: Although the pathogenicity of the prominin-1 (PROM1) gene has already been described as associated with autosomal dominant Stargardt disease, little is known about sequence variations in this gene. Purpose: The aim of this study was to evaluate PROM1 gene sequence variations in patients with macular dystrophy. Material and methods: This retrospective study evaluated variations in the PROM1 gene detected by next-generation sequencing test in patients with macular dystrophy and Stargardt disease. Results: Of 25 medical records of patients with Stargardt disease, three records of patients with PROM1 gene sequence variations were selected for the study. The p. Asp776Val and p. Asp829Asn variants were detected in cases 1 and 2, respectively, and predicted to be pathogenic