Lesions (ulcers and/or erosions) and desquamations location in the gastric mucosa from asymptomatic Quarter Horse foals: endoscopic survey

A úlcera gástrica figura como uma importante causa de desconforto abdominal em eqüinos jovens. de acordo com a localização das lesões na mucosa gástrica, a presença ou ausência de sinais clínicos e possíveis complicações resultantes de sua ocorrência, quatro síndromes clínicas são freqüentemente descritas em potros: 1) Úlceras assintomáticas ou silenciosas; 2) Úlceras sintomáticas ou ativas; 3) Úlceras perfuradas; e 4) Obstruções gástrica ou duodenal. Com o objetivo de se verificar a distribuição de lesões gástricas (úlceras e/ou erosões) e descamações do epitélio aglandular no estômago de eqüinos jovens assim como uma possível relação entre as alterações mencionadas (lesão/descamação) sessenta potros da raça Quarto de Milha não-portadores de sinais clínicos compatíveis com úlceras gástricas foram submetidos à gastroscopia. Os potros foram divididos em quatro faixas etárias de 15 animais cada uma, sendo: 1 a 30 dias, 31 a 60 dias, 61 a 90 dias e 91 a 120 dias de idade. As lesões ocorreram em ordem decrescente de freqüência nas regiões aglandular próximo ao margo plicatus ao longo da curvatura maior, aglandular próximo à cárdia ao longo da curvatura menor, fundo glandular e aglandular e antro. As descamações do epitélio aglandular ocorreram de forma similar nas regiões de fundo e margo plicatus. Não houve associação entre a ocorrência de lesões e descamações.

Cholangiocarcinoma and Squamous Cell Carcinoma of the Stratified Epithelial Portion of the Stomach in a Horse: A Case Report

Both cholangiocarcinoma and squamous cell carcinoma of the stomach stratified squamous epithelial portion are rarely found in equine medicine despite being more common in human beings, dogs, and cats. The objective of the present article was to report the simultaneous occurrences of these two types of neoplasias in an 11-year-old mare. Numerous firm, whitish nodules were distributed throughout the liver parenchyma and those protruding over its surface were umbilicated in their appearance. It was verified that the nodules adhered to the peritoneum and omentum, diaphragm, spleen, and stomach serosa compressed the adjacent structures. The stomach stratified squamous epithelial portion, particularly originating in the margo plicatus toward the cardia, was covered by numerous smooth, whitish spherules. Microscopic examination allowed the liver, tumor, and the abdominal implants to be identified as a cholangiocarcinoma, and the stomach neoplasia as a carcinoma of its stratified squamous epithelial portion. Considering this as an uncommon finding, although when considered individually, the presence of a cholangiocarcinoma and a squamous cell carcinoma of the stratified squamous epithelial portion of the equine stomach in the same specimen is worthy of reporting. (C) 2011 Elsevier B.V. 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.

Pollen morphology of Fridericia Mart. (Bignoniaceae) from Brazilian forest fragments

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