Discussing options between patients and health care professionals in genetic diagnosis: ethical and legal criteria

The specific characteristics of genetic data lead to ethical-legal conflicts in the framework of genetic diagnosis. Several international organisations, including UNESCO and the Council of Europe, have enacted rules referring to the use of genetic information. This paper discusses possible legal and ethical criteria that could be used in genetic testing.     

A Spanish version of the Family Assessment Device

Introduction  

This paper presents the results of a study on the psychometric properties of an authorized Spanish version of the McMaster Family Assessment Device, a self-report measure of family functioning.     

An exceptional postoperative gastric tube bleeding after esophageal resection for cancer

A case of gastric tube bleeding after an Ivor-Lewis esophagectomy with gastroesophageal anastomosis is reported. During the early postoperative course, the patient had a gastric tube stasis that improved progressively. The subsequent onset of a serious and intermittent hematemesis, which was endoscopically deemed to be the result of a hemorrhagic gastritis, required multiple blood transfusions. The evolution to a severe hemodynamic instability obliged us to reoperate on the patient. During surgery, a band-related obstruction of the first jejunal loop with local signs of vascular hypertension was noted. As soon as the obstruction was solved, the gastric bleeding stopped. The authors discuss the clinical aspects and physiopathology of the gastric tube bleeding and, in particular, they evaluate the influence of the intestinal obstruction with vascular involvement on the development of this exceptional and severe complication.     

The genetic and epigenetic basis of ependymoma

Introduction  

Although ependymoma is the third most common pediatric brain tumor, we know little about the genetic/epigenetic basis of its initiation, maintenance, or progression. This is due in part to the heterogeneity of the disease, as well as the small sample size of the cohorts analyzed in most studies.     

Abnormal fluorine-18-fluorodeoxyglucose uptake in benign esophageal leiomyoma

A benign esophageal leiomyoma with abnormally increased fluorine-18-fluorodeoxyglucose uptake on positron emission tomography (PET) was resected thoracoscopically. The tumor, of which the maximum standardized uptake value of the lesion was 4.7, was well defined and 38 mm in diameter. Neither mitotic activity nor degeneration was found histologically; and immunoreactivity for CD34, CD117, MIB-1, and glucose transporter-1 was negative immunohistochemically. A diagnosis of gastrointestinal stromal tumor was ruled out by an oncogenic kinase gene mutation study. This case cautions against PET-dependent evaluation for malignant potential of esophageal submucosal tumors.