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Biomedical subjects

R Marini

Publications and source records attributed to R Marini.

At least 73 records · Page 4Linked to original sources

Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome.

We report on another family with the so-called "gigantism-dysplasia syndrome", an X-linked condition characterized by pre- and postnatal overgrowth, characteristic face with apparent coarseness, dysplastic changes in several tissues, and mild intellectual impairment. This condition has been called the Golabi-Rosen syndrome; however, we agree that is the same entity as that described, in a milder form, by Simpson et al in 1975 and by Behmel et al in 1984. Therefore, we suggest that this entity be designated the Simpson-Golabi-Behmel syndrome. The manifestations in affected individuals suggest that this condition represents an X-linked encephalo-tropho-schisis syndrome.

Abnormalities, Multiple↗

System identification of dynamic closed-loop control of total peripheral resistance by arterial and cardiopulmonary baroreceptors.

Prolonged exposure to microgravity in space flight missions (days) impairs the mechanisms responsible for defense of arterial blood pressure (ABP) and cardiac output (CO) against orthostatic stress in the post-flight period. The mechanisms responsible for the observed orthostatic intolerance are not yet completely understood. Additionally, effective counter measures to attenuate this pathophysiological response are not available. The aim of this study was to investigate the ability of our proposed system identification method to predict closed-loop dynamic changes in TPR induced by changes in mean arterial pressure (MAP) and right atrial pressure (RAP). For this purpose we designed and employed a novel experimental animal model for the examination of arterial and cardiopulmonary baroreceptors in the dynamic closed-loop control of total peripheral resistance (TPR), and applied system identification to the analysis of beat-to-beat fluctuations in the measured signals. Grant numbers: NAG5-4989.

Animals↗

Vascular endothelial growth factor induces brain erythropoietin expression?

To investigate whether the formation of vascular endothelial growth factor (VEGF) influences erythropoietin (EPO) expression in physiological conditions, we injected into the left lateral cerebral ventricle of the Mongolian gerbil an adeno-associated virus (AAV) vector capable of expressing the 165-amino-acid isoform of VEGF (VEGF165). Twelve and 18 days after AAV vector injection, the experimental animals were sacrificed and expression of EPO was evaluated through immunohistochemical analysis of both the hippocampus and the frontal cortex. We observed that VEGF165 induces EPO expression in the hippocampal pyramidal layers and in the frontal cortex of the gerbil, particularly after the 18th day following treatment with the vector, which suggests that VEGF165 could act as a hypoxic-like signal for EPO production. This finding could help to clarify the functional role of EPO and the molecular mechanisms by which VEGF might mediate its effects in the brain.

Animals↗