Publications by authors named "Katarina Jurickova"
Despite the adenoids are regularly removed in patients with mucopolysaccharidoses (MPS), the underlying tissue and cellular pathologies remain understudied. We characterized an (immuno)histopathologic and ultrastructural phenotype dominated by lysosomal storage changes in a specific subset of adenotonsillar paracortical cells in 8 MPS patients (3 MPS I, 3 MPS II, and 2 MPS IIIA). These abnormal cells were effectively detected by an antibody targeting the lysosomal membrane tetraspanin CD63.
View Article and Find Full Text PDFThe Application of HPLC-FLD and NMR in the Monitoring of Therapy Efficacy in Alpha-Mannosidosis.
Front Biosci (Landmark Ed)
February 2023
Article Synopsis
- Alpha-mannosidosis is a rare genetic disorder resulting from a deficiency in the enzyme α-D-mannosidase, leading to the accumulation of undigested sugars in cells, which are excreted in urine.
- The study involved analyzing urinary oligosaccharides from a patient undergoing a new enzyme replacement therapy using advanced techniques like HPLC and NMR, finding a significant decrease in these sugars after treatment.
- Results indicated the therapy's effectiveness, with a two-fold decrease in oligosaccharides at one month and a ten-fold decrease at four months, supporting both HPLC-FLD and NMR as reliable methods for monitoring treatment outcomes in alpha-mannosidosis.
Fabry disease (FD, OMIM#301500) is a rare inborn error of the lysosomal enzyme α-galactosidase (α-Gal A, EC 3.2.1.
View Article and Find Full Text PDFObjective: Despite profound neurological symptomatology there are only few MRI studies focused on the brain abnormalities in alpha-mannosidosis (AM). Our aim was to characterize brain MRI findings in a large cohort of AM patients along with clinical manifestations.
Methods: Twenty-two brain MRIs acquired in 13 untreated AM patients (8 M/5F; median age 17 years) were independently assessed by three experienced readers and compared to 16 controls.
Article Synopsis
- Niemann-Pick disease Type C (NP-C) is a complex lysosomal disorder with symptoms that vary by age, making diagnosis difficult, which led to the creation of the NP-C Suspicion Index (SI) for better patient screening.
- A retrospective analysis of 63 patient charts from expert centers evaluated five different NP-C SI models to see how effectively they identified NP-C, with the Refined SI showing the best performance across all age groups and allowing earlier diagnosis in many cases.
- The Refined SI was particularly effective, detecting NP-C in 77.8% of infants, and 100% of juvenile and adult patients, while also highlighting that many missed cases presented with common symptoms like delayed milestones and neurological issues.
Background: Niemann-Pick disease Type C (NP-C) is a lysosomal lipid storage disorder characterized by progressive neurodegenerative symptomatology. The signs and symptoms of NP-C vary with age at disease onset, and available therapies are directed at alleviating symptoms and stabilizing disease progression. We report the characteristics and factors related to disease progression, and analyze the effect of miglustat treatment on disease progression and patient survival using NP-C disability scales.
View Article and Find Full Text PDF