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Biomedical subjects

Marie Bernadette Delisle

Publications and source records attributed to Marie Bernadette Delisle.

4 recordsLinked to original sources
PubMed2005

Survival after spontaneous aortic rupture in a patient with Ehlers-Danlos syndrome.

Ehlers-Danlos syndrome (EDS) is a rare inherited disorder of connective tissue characterized by hyperextensible skin, hypermobile joints, and abnormalities of the cardiovascular system. Most patients are unaware of their disease until a catastrophic event such as arterial rupture or bowel perforation occurs. Aortic disruption accounts for many of the deaths in EDS type IV cases and only two cases of survival after spontaneous aortic rupture have previously been reported. We report on a third case of a survivor of spontaneous abdominal aortic rupture in EDS type IV.

Adult↗
PubMed2004

Neurodegeneration caused by proteins with an aberrant carboxyl-terminus.

In recent years, 2 groups of hereditary neurodegenerative diseases have been recognized in which different genetic defects lead to the accumulation of proteins that contain a carboxyl-terminus that is abnormal in length and primary sequence. In this paper, we review the current knowledge on the molecular basis of diseases from these 2 groups. The first group includes familial British and Danish dementias, in which the molecular genetic defect resides in the BRI2 gene located on chromosome 13. In this group, carboxyl-terminal proteolytic products of the mutant BRI2 proteins aggregate in the extracellular space of the brain and in blood vessels. The second group includes 2 recently described ferritinopathies, in which the molecular genetic defect resides in the ferritin light polypeptide gene located on chromosome 19. In this group, full-length ferritin polypeptides aggregate intracellularly. The study of these conditions has led to the discovery of the BRI2 gene and to the finding of an unsuspected role for ferritin in neurodegeneration. These diseases provide new models in which to study the relationship between abnormal protein aggregation, neuronal cell death, and dementia.

Amino Acid Sequence↗
PubMed2004

Congenital pseudarthrosis of the clavicle: a histopathological study in five patients.

Congenital pseudarthrosis of the clavicle is usually situated on the right clavicle. Pathological data on pseudarthrosis are scant. The histological analysis of five cases treated by 'en bloc' surgical resection are reported. Enchondral ossification was observed on both sides of the resected pseudarthrosis in two cases. Less characteristic enchondral features were noted in three cases. These findings confirm that the pseudarthrosis is due to the failure of coalescence of the two primary ossification centers of the clavicle.

Adolescent↗