Biomedical subjects

Janina Rafalowska

Publications and source records attributed to Janina Rafalowska.

3 recordsLinked to original sources

PubMed2004

CADASIL or CADVaSIL?

In the present study, morphological examination of patients from two unrelated Polish families with CADASIL was performed. Using light microscopy, there were evident changes characteristic to the disease. On electron microscopy, deposits of granular osmiophillic material (GOM) were found not only in cerebral arteries and veins but also in cerebral capillaries and vessels of the internal organs. These findings indicate that pathological process in CADASIL is generalized and involves also small vessels devoid of smooth muscle cells. Therefore, we propose to consider a replacement for the name CADASIL that better reflects the morphological picture of the disease like, for example, cerebral autosomal dominant vasculopathy with subcortical infarcts and leukoencephalopathy (CADVaSIL) or, to preserve the commonly known acronym, cerebral autosomal dominant angiopathy with subcortical infarcts and leukoencephalopathy.

Adult↗

PubMed2004

CADASIL: what component of the vessel wall is really a target for Notch 3 gene mutations?

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary cerebrovascular disease leading to cognitive decline, dementia and recurrent strokes. The underlying angiopathy of the small vessels is characterized by basophilic degeneration of the media, Notch 3 protein accumulation in vessel wall and a unique type of ultrastructural deposits located nearby the basal lamina. In some cases of CADASIL, morphological changes similar to those observed in panarteritis nodosa (PAN) were found. PAN-like changes manifested as fibrinoid necrosis of the tunica media and perivascular inflammatory infiltrates were found in arteries not only in the central nervous system but also in internal organs. Presence of PAN-like changes indicates that some autoimmunological mechanisms can participate in the CADASIL process. Although vascular smooth muscle cells seem to be a primary target of the pathogenic process triggered by mutations in Notch 3 gene they are probably not the only target. This article gives a brief overview on the morphologic spectrum of the vascular pathological changes in CADASIL and discusses some of the relevant mechanisms that lead from Notch 3 mutations to ischemic infarcts.

Arterioles↗

PubMed2002

Motoneuron death in normal and spinal muscular atrophy-affected human fetuses.

The onset and sequence of motoneuron death in the lumbar part of spinal cord of seven control and five affected fetuses carrying deletion of exon 7 in the SMN gene were studied by light and electron microscopy. Naturally occurring motoneuron death in control fetuses was detected between 8 and 13 weeks of gestation. In affected fetuses motoneuron death was prolonged and also observed at 16 and 20 weeks of gestation. In addition, motoneurons in the affected fetuses displayed nuclear abnormalities as early as 16 weeks of gestation and the changes progressed as the affected fetuses developed and can be considered first signs of motoneuron degeneration.

Apoptosis↗