0000000000283815

AUTHOR

Guna Ozola

showing 4 related works from this author

Nieru aizstājterapijas metožu salīdzinājums pēc pacientu dzīves kvalitātes novērtējuma.

2007

Darba pamatojums: Ar veselību saistītā dzīves kvalitāte attiecas uz pacientu funkcionēšanas, labklājības un vispārējās veselības pasākumu izpratni ikvienā no trijām sfērām – fiziskajā, psiholoģiskajā un sociālajā. Līdztekus izdzīvošanas un citiem klīnisko iznākumu veidiem, pacientu dzīves kvalitāte ir svarīgs rādītājs tās medicīniskās aprūpes efektivitātei, ko viņi saņem. Nieru slimības terminālās stadijas pacientu dzīves kvalitāti ietekmē gan slimība pati par sevi, gan aizstājterapijas veids (hemodialīze, peritoneālā dialīze, nieru transplantācija). Darba mērķi: Noskaidrot, kāda ir pacientu dzīves kvalitāte pie dažādām nieru aizstājterapijas metodēm un salīdzināt iegūtos datus, lai novērtē…

Medicīna
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Evaluation Of Massive Parallel Sequencing As A Diagnostic Tool For Familial Hypercholesterolemia

2015

Abstract Familial hypercholesterolemia (FH) is one of the most common single gene disorders, which is mostly inherited as an autosomal dominant trait. The physical signs of FH are elevated low density lipoprotein cholesterol (LDL-C), elevated total cholesterol (TC) levels and tendon xantomas. Identification and early treatment of affected individuals is desirable and in lack of physical symptoms DNA-based diagnosis provides confirmation of diagnosis and enables early patient management. The majority of FH cases are caused by mutations in four genes (APOB, LADLR, PCSK9, and LDLRAP1). There are commercial kits available for testing of the 20 most common FH causing mutations, but the spectrum …

Pediatricsmedicine.medical_specialtyldlrApolipoprotein Bldlrap1ScienceLow density lipoprotein cholesterolFamilial hypercholesterolemiachemistry.chemical_compoundngsmedicinepcsk9MultidisciplinaryMassive parallel sequencingfamilial hypercholesterolemiabiologyCholesterolPCSK9QAutosomal dominant traitmedicine.diseasechemistryapobLDL receptorbiology.proteinlipids (amino acids peptides and proteins)Proceedings of the Latvian Academy of Sciences. Section B. Natural, Exact, and Applied Sciences.
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Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL–C levels in a latvi…

2015

Background Familial hypercholesterolemia (FH) is one of the commonest monogenic disorders, predominantly inherited as an autosomal dominant trait. When untreated, it results in early coronary heart disease. The vast majority of FH remains undiagnosed in Latvia. The identification and early treatment of affected individuals remain a challenge worldwide. Most cases of FH are caused by mutations in one of four genes, APOB, LDLR, PCSK9, or LDLRAP1. The spectrum of disease-causing variants is very diverse and the variation detection panels usually used in its diagnosis cover only a minority of the disease-causing gene variants. However, DNA-based tests may provide an FH diagnosis for FH patients…

MaleNonsynonymous substitutionApolipoprotein BCoronary Artery DiseaseFamilial hypercholesterolemiaDiseaseCohort StudiesPCSK9Genetics(clinical)Family historyGenetics (clinical)Aged 80 and overGeneticseducation.field_of_studybiologySerine EndopeptidasesHigh-Throughput Nucleotide SequencingAutosomal dominant traitMiddle AgedLDLRAP1Apolipoprotein B-100Femalelipids (amino acids peptides and proteins)Proprotein ConvertasesProprotein Convertase 9APOBResearch ArticleAdultPopulationPolymorphism Single NucleotideLDLHyperlipoproteinemia Type IIYoung AdultGeneticsmedicineHumanseducationAdaptor Proteins Signal TransducingAgedDiagnostic toolsPCSK9Cholesterol LDLmedicine.diseaseLatviaGenetics PopulationLDLRReceptors LDLMutationNext-generation sequencingbiology.proteinBMC Medical Genetics
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Additional file 1: Table S1. of Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with i…

2015

All variants found in study group. (DOC 611Â kb)

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