611. Nutritional composition of gluten-free labelled foods in the Slovenian food supplyŽiva Lavriša, Maša Hribar, Anita Kušar, Katja Žmitek, Igor Pravst, 2020, izvirni znanstveni članek Ključne besede: gluten-free foods, nutritional composition, food labelling, food supply
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613. Increased burden of rare variants in GWAS associated genes in familial multiple sclerosisAleksander Turk, Aleš Maver, Peter Juvan, Jelena Drulović, Sarlota Mesaros, Ivana Novaković, Nada Starčević-Čizmarević, Smiljana Ristić, Ivana Stanković Matić, Borut Peterlin, 2025, izvirni znanstveni članek Povzetek: Multiple sclerosis (MS) is an immune-mediated neurodegenerative disease affecting the central nervous system with many known genetic risk factors. Although genome-wide association studies (GWAS) have identified common genetic variants with small effects associated with MS, the role of rare variants with large effects in MS aetiology remains underexplored. We hypothesized that rare variants in MS-associated genes from GWAS studies (GWAS-associated genes) are more likely to contribute to familial MS (FMS) risk than to sporadic MS (SMS). Therefore, we aimed to assess the burden of rare, predicted pathogenic (RPP) variants in GWAS-associated genes in FMS and SMS patients compared to controls. Rare genetic variants in 111 GWAS-associated genes were assessed in 87 FMS, 89 SMS and 3866 control cases. We demonstrate that RPP variants were significantly overrepresented in the FMS cohort whereas their frequency was not increased in the SMS cohort compared to controls (p-values 5.27 × 10− 74 and 1.00, respectively). Six genes (ALPK2, ANKRD55, INTS8, IQCB1, JADE2, and MALT1) significantly contributed to the burden of RPP in the FMS group. We conclude that rare variants in genes identified by GWAS might contribute to the genetic predisposition of familial MS patients.
Ključne besede: multiple sclerosis, burden analysis, whole exome sequencing (WES), rare variants, rare pathological changes, candidate genes
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614. Impact of linseed variety, location and production year on seed yield, oil content and its compositionBarbara Čeh, Saša Štraus, Aleš Hladnik, Anita Kušar, 2020, izvirni znanstveni članek Ključne besede: Linum usitatissimum L., linseed, seed yield, nutrition quality, oil, field production, growth conditions
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616. Secondary parkinsonism associated with focal brain lesionsRok Berlot, Anđela Pavlović, Maja Kojović, 2024, pregledni znanstveni članek Povzetek: Focal imaging abnormalities in patients with parkinsonism suggest secondary etiology and require a distinctive clinical approach to diagnosis and treatment. We review different entities presenting as secondary parkinsonism associated with structural brain lesions, with emphasis on the clinical course and neuroimaging findings. Secondary parkinsonism may be due to vascular causes, hydrocephalus, space-occupying lesions, metabolic causes (including acquired hepatocerebral degeneration, diabetic uremic encephalopathy, basal ganglia calcifications, osmotic demyelination syndrome), hypoxic-ischaemic brain injury, intoxications (including methanol, carbon monoxide, cyanide, carbon disulfide, manganese poisoning and illicit drugs), infections and immune causes. The onset can vary from acute to chronic. Both uni-and bilateral presentations are possible. Rigidity, bradykinesia and gait abnormalities are more common than rest tremor. Coexisting other movement disorders and additional associated neurological signs may point to the underlying diagnosis. Neuroimaging studies are an essential part in the diagnostic work-up of secondary parkinsonism and may point directly to the underlying etiology. We focus primarily on magnetic resonance imaging to illustrate how structural imaging combined with neurological assessment can lead to diagnosis. It is crucial that typical imaging abnormalities are recognized within the relevant clinical context. Many forms of secondary parkinsonism are reversible with elimination of the specific cause, while some may benefit from symptomatic treatment. This heterogeneous group of acquired disorders has also helped shape our knowledge of Parkinson's disease and basal ganglia pathophysiology, while more recent findings in the field garner support for the network perspective on brain function and neurological disorders.
Ključne besede: MRI, diagnosis, lesion, parkinsonism, reversible, secondary
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618. Concentrations of phenolic acids are differently genetically determined in leaves, flowers, and grain of common buckwheat (Fagopyrum esculentum Moench)Alena Vollmannová, Janette Musilová, Judita Lidiková, Július Árvay, Marek Šnirc, Tomáš Tóth, Tatiana Bojňanská, Iveta Čičová, Ivan Kreft, Mateja Germ, 2021, izvirni znanstveni članek Objavljeno v DiRROS: 12.11.2025; Ogledov: 129; Prenosov: 76
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619. Dietary intake of folate and assessment of the folate deficiency prevalence in Slovenia using serum biomarkersIgor Pravst, Živa Lavriša, Maša Hribar, Hristo Hristov, Naska Kvarantan, Barbara Koroušić-Seljak, Matej Gregorič, Urška Blaznik, Nadan Gregorič, Katja Zaletel, Adrijana Oblak, Joško Osredkar, Katja Žmitek, Anita Kušar, 2021, izvirni znanstveni članek Objavljeno v DiRROS: 12.11.2025; Ogledov: 166; Prenosov: 92
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620. Inadequate intake of dietary fibre in adolescents, adults, and elderlies : results of Slovenian representative Si. Menu studyBarbara Koroušić-Seljak, Eva Valenčič, Hristo Hristov, Maša Hribar, Živa Lavriša, Anita Kušar, Katja Žmitek, Sanja Krušič, Matej Gregorič, Urška Blaznik, Blaž Ferjančič, Jasna Bertoncelj, Mojca Korošec, Igor Pravst, 2021, izvirni znanstveni članek Objavljeno v DiRROS: 12.11.2025; Ogledov: 179; Prenosov: 86
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