Fine needle aspiration biopsy of gastrointestinal stromal tumor presenting as an umbilical mass (Sister Mary Joseph's nodule)

The Sister Mary Joseph (SMJ) nodule is a clinical sign of metastatic cancer involving the umbilicus. The vast majority of these instances represent adenocarcinomas arising from ovarian or colorectal primaries. We present a patient who presented with ascites and the SMJ lesion that turned out to be a metastatic gastrointestinal stromal tumor after fine needle aspiration biopsy was performed. The lesion was subsequently histologically confirmed. Gastrointestinal stroma tumor involving the umbilicus is exceedingly uncommon and only rarely presents in this fashion. The cytomorphological features, differential diagnosis, and comparison with the tissue specimen are made. © 2006 Elsevier Inc. All rights reserved.

Clinical and molecular phenotype of Aicardi-Goutières syndrome

Aicardi-Goutières syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3′→5′ exonuclease TREX1 and the three subunits of the RNASEH2 endonuclease complex. To define the molecular spectrum of AGS, we performed mutation screening in patients, from 127 pedigrees, with a clinical diagnosis of the disease. Biallelic mutations in TREX1, RNASEH2A, RNASEH2B, and RNASEH2C were observed in 31, 3, 47, and 18 families, respectively. In five families, we identified an RNASEH2A or RNASEH2B mutation on one allele only. In one child, the disease occurred because of a de novo heterozygous TREX1 mutation. In 22 families, no mutations were found. Null mutations were common in TREX1, although a specific missense mutation was observed frequently in patients from northern Europe. Almost all mutations in RNASEH2A, RNASEH2B, and RNASEH2C were missense. We identified an RNASEH2C founder mutation in 13 Pakistani families. We also collected clinical data from 123 mutation-positive patients. Two clinical presentations could be delineated: an early-onset neonatal form, highly reminiscent of congenital infection seen particularly with TREX1 mutations, and a later-onset presentation, sometimes occurring after several months of normal development and occasionally associated with remarkably preserved neurological function, most frequently due to RNASEH2B mutations. Mortality was correlated with genotype; 34.3% of patients with TREX1, RNASEH2A, and RNASEH2C mutations versus 8.0% RNASEH2B mutation-positive patients were known to have died (P = .001). Our analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder. Additionally, our data indicate that at least one further AGS-causing gene remains to be identified. © 2007 by The American Society of Human Genetics. All rights reserved.

The value of intraocular pressure asymmetry in diagnosing glaucoma

PURPOSE

O efeito da voz do narrador nos contos Carried away e Monsieur les deux chapeaux, da escritora canadense Alice Munro

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Voz narrativa e memória: a busca de identidade pelas protagonistas de Felicidade clandestina, de Clarice Lispector e de Lives of girls and women, de Alice Munro. -

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

A escrita da história entre dois mundos: uma análise da produção de Alice Piffer Canabrava (1935-1961)

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Intertextualidade entre Coraline e Alice's adventures in wonderland & Throught the looking-glass and what Alice found there

When writing Coraline, Neil Gaiman takes up some resources used by Lewis Carroll in his two major works, Alice's Adventures in Wonderland and Through the Looking-Glass and What Alice Found There, but still manages to write a unique novel, seemingly grim, filled with horror. In the 1960s, the theoretician Julia Kristeva conducted a study on the possible dialogue between the texts, concluding that every text contains parts of other texts, already written or that will be. Based on the theory of intertextuality she first proposed and which was subsequently discussed by several theoreticians, this paper aims to find points in the works in which this dialogue is present, as well as how Neil Gaiman appropriates these resources properly. It also tries to show elements where these points of intertextuality differ, proposing that this difference is because Gaiman resorted, directly, or indirectly, to insights drawn from the study of Freud’s psychoanalytic theory

Memória, culpa e angústia nas narrativas de Alice Munro e Clarice Lispector

This study analyses two writers from different nationalities and cultures, the Brazilian Clarice Lispector and the Canadian Alice Munro, to demonstrate the common treatment that both writers give to the childhood theme. The central aim is to examine, with the support of Freud‘s psychoanalytic studies, how childhood is important to understand the writers‘ fiction, or when a narrative voice revisits experiences lived in that period, or when the narrative is dominated by a childlike voice. In both events, memory is the central element in this anamnesis process. We seek to prove that even when dealing with different cultures, it is possible to develop a comparative study to show similar strategies applied by the writers. The selected narratives show relevant information concerning the chosen theme and enable to reveal the mode of composition and the concept of literary creation of each author. The analytical study of the narrative categories, especially the narrator, time and space, will be examined to show how they influence on the construction of the theme. Other features will provide support for the analysis, such as internalized narrative, the open end, the constant temporal and spatial distortions, the use of contradictory figures of speech such as oxymoron, unusual metaphors and antitheses, the portrayal of a paradoxical world and the concern with existential questions, all of which are shared by the authors, in addition to the theme, which allow the comparative work

Intrauterine exposure to diesel exhaust diminishes adult ovarian reserve

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)