Disruption and aberrant expression of HMGA2 as a consequence of diverse chromosomal translocations in myeloid malignancies.

Chromosomal translocations that target HMGA2 at chromosome band 12q14 are seen in a variety of malignancies, notably lipoma, pleomorphic salivary adenoma and uterine leiomyoma. Although some HMGA2 fusion genes have been reported, several lines of evidence suggest that the critical pathogenic event is the expression of truncated HMGA2 isoforms. We report here the involvement of HMGA2 in six patients with myeloid neoplasia, dysplastic features and translocations or an inversion involving chromosome bands 12q13-15 and either 7p12, 8q22, 11q23, 12p11, 14q31 or 20q11. Breaks within or very close to HMGA2 were found in all six cases by molecular cytogenetic analysis, leading to overexpression of this gene as assessed by RT-PCR. Truncated transcripts consisting of HMGA2 exons 1-2 or exons 1-3 spliced to intron-derived sequences were identified in two patients, but were not seen in controls. These findings suggest that abnormalities of HMGA2 play an important and previously unsuspected role in myelodysplasia.

[Guillain Barré syndrome in an intensive care unit]. / Síndrome de Guillain Barré en Unidad de Cuidados Intensivos.

INTRODUCTION AND OBJECTIVE: The Guillain Barré syndrome is an inflammatory process of the peripheral nervous system. It is potentially reversible. Nowadays it is the commonest cause of acute, generalized, flaccid paralysis in the western world. Our objective was to present the clinical and electrophysiological characteristics of patients with the Guillain Barré syndrome who required admission to an intensive care unit. We therefore report our experience over a period of four years with patients with this syndrome who were admitted to the intensive care unit and given mechanical ventilation. We analyze the current incidence of this syndrome, the proportion of patients requiring admission to the intensive care unit and connection to mechanical ventilators due to their muscle weakness, and the mortality rates of the major case series published. We analyze the electrophysiological findings which indicate worse prognosis. Greater axonal involvement is seen in patients with poorer recovery, whilst those who made a better recovery had a predominantly demyelinating pattern. We studied certain clinical features which implied more severe illness and worse functional recovery such as the appearance of signs of autonomic nervous system involvement, rate of progression until the maximum affectation occurred and advanced age. Finally, we discuss the role of current immunomodulation treatment and the evidence of its effectiveness. The Guillain Barré syndrome patients admitted to the intensive care unit with the greatest index of long term sequelae are characterized by being older, with a higher proportion of neurovegatative disorders and have an electrophysiological pattern showing signs of greater axonal degeneration.

[Analysis of the electrical activity of the heart and computerization: digital criteria of right bundle-branch block]. / Analyse de l'activité électrique du coeur et informatique: critères numériques du bloc de la branche droite.

The analysis of the electrical activity of the heart has benefitted over the last few years from the development and increased use of computer techniques. It lend itself well to these methods as the data is easily digitalised. The aim of this study was to determine digital criteria of right bundle branch block (RBBB) to facilitate diagnosis mainly when associated with right ventricular hypertrophy and true posterior myocardial infarction. Thirty-two patients (9 women and 23 men) whose electrocardiogram met the conventional criteria of the Wilson type of RBBB were chosen. Their ages ranged from 48 to 84 years (mean: 69 years); all underwent a computerised vectorcardiogram. Frank's X, Y and Z leads were treated by our computer programme. A detailed orthogonal study of the QRS and T wave loops was performed. The following parameters were determined: vectors of special interest (maximal orthogonal vector, maximal vector of the maximal vectors, half-surface vectors); the orthogonal and total surface of the QRS loop; the linear spatial speed.(ABSTRACT TRUNCATED AT 250 WORDS)