Publications by authors named "I PRPIC"
Article Synopsis
- - Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) is a severe neurodegenerative disorder that typically appears in children aged 2 to 4, resulting in seizures, loss of language and motor skills, and ultimately leading to blindness and early death.
- - A study examined six patients with CLN2 from Croatia and Bosnia, all exhibiting seizures and language delays; the results showed that treatment with cerliponase alfa significantly slowed disease progression in patients who continued therapy.
- - Recognizing early symptoms of CLN2, such as seizures and language delays, is crucial for timely diagnosis and treatment; however, not all patients agreed to receive enzyme replacement therapy despite its benefits.
Due to the increasing importance of exposome in environmental epidemiology, feasibility and usefulness of an Environmental Data Management System (EDMS) using Open Data was evaluated. The EDMS includes data from 10 European cities (Celje (Slovenia), Łódź (Poland), Manchester (UK), Palermo (Italy), Paris (France), Porto (Portugal), Regensburg (Germany), Reus (Spain), Rijeka (Croatia), Thessaloniki (Greece)) about external non-specific and specific exposome factors at the city or country level (2017-2020). Findings showed that the highest values of life expectancy were in Reus females (86 years) and Palermo males (81 years).
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- Lead (Pb) is a harmful contaminant that can affect fetal development during pregnancy, with exposure occurring through diet and maternal bone release.
- The study explored how different variants of the Apolipoprotein E gene (APOE) in pregnant women relate to Pb levels in both maternal and cord blood, considering the sex of the fetus and the number of previous pregnancies (parity).
- Results showed that the maternal ε2 gene variant correlated with higher Pb levels in female fetuses, while the ε4 variant correlated with lower Pb levels, highlighting the complex roles of genetics and fetal factors in Pb exposure during pregnancy.
Epilepsy is one of the most common chronic diseases in children, and cannot be controlled with conventional antiepileptic drugs in 30% of cases. Therefore, in these cases, alternative approach such as corticosteroid therapy (CT) is used. The aim of this study was to analyze different types of CT used to treat drug-resistant childhood epilepsies, treated at Rijeka University Hospital Centre during a 5-year period (2016-2020).
View Article and Find Full Text PDFEpilepsy is one of the most common neurological disorders with diverse phenotypic characteristics and high genetic heterogeneity. Epilepsy often occurs in childhood, so timely diagnosis and adequate therapy are crucial for preserving quality of life and unhindered development of a child. Next-generation-sequencing (NGS)-based tools have shown potential in increasing diagnostic yield.
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