Publications by authors named "J Karolina Purzycka-Olewiecka"
Ceroid lipofuscinosis type 3 (CLN3) is an autosomal recessive, neurodegenerative metabolic disease. Typical clinical symptoms include progressive visual loss, epilepsy of unknown etiology and dementia. Presence of lipofuscin deposits with typical pattern of 'fingerprints' and vacuolized lymphocytes suggest the diagnosis of CLN3.
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- A 36-year-old man with a history of dysarthria and cardiac arrhythmia since childhood developed severe cerebellar-extrapyramidal symptoms and heart failure due to dilated cardiomyopathy of unspecified origin.
- Brain MRI revealed significant cerebellar atrophy, and upon cardiac transplantation, genetic testing identified biallelic variants, including known and novel mutations.
- Further analysis showed reduced TPP1 activity and specific findings in heart tissue biopsies, suggesting symptoms aligned with benign forms of ceroid lipofuscinosis type 2 and features of autosomal recessive spinocerebellar ataxia type 7.
Gaucher disease (GD) is a rare inherited metabolic disease caused by pathogenic variants in the GBA1 gene. So far, the pathomechanism of GD was investigated mainly in animal models. In order to delineate the molecular changes in GD cells we analysed gene expression profile in cultured skin fibroblasts from GD patients, control individuals and, additionally, patients with Niemann-Pick type C disease (NPC).
View Article and Find Full Text PDFCancer stem-like cells (CSLCs) are defined as cancer cells with stem cell characteristics. Although CSLCs constitute no more than a few percent of the tumor mass, they play important roles in cancer chemo-resistance, metastasis and disease recurrence. Ovarian cancer (OC) is considered the most aggressive gynecological malignancy in which the role of CSLCs is of major significance, although it remains to be specified.
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