11 research outputs found

    Plasma neurofilament light chain as a potential biomarker in Charcot‐Marie‐Tooth disease

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    BACKGROUND: Charcot-Marie-Tooth disease (CMT) is a chronic, slowly progressing disorder. The lack of specific disease progression biomarkers limits the execution of clinical trials. However, neurofilament light chain (NfL) has been suggested as a potential biomarker for peripheral nervous system disorders. METHODS: Ninety-six CMT patients and 60 healthy controls were enrolled in the study. Disease severity assessment included clinical evaluation with CMT Neuropathy Score version 2 (CMTNSv2). Blood plasma NfL concentrations were measured using the single molecule array (Simoa) NfL assay. RESULTS: The NfL concentration was significantly higher in the CMT patient group than in the controls (p<0.001). Of the CMT patients, ones with type CMTX1 had a higher NfL level than those in the two other analysed subgroups (CMT1A and other CMT types) (p=0.0498). The NfL concentration had a significant but weak correlation with the CMTNSv2 (rs =0.25, p=0.012). In one CMT patient with an extremely elevated NfL level, overlap with chronic inflammatory demyelinating polyneuropathy was suspected. ROC analysis showed that an NfL concentration of 8.9 pg/mL could be used to discriminate CMT patients from controls, with an area under the curve of 0.881. CONCLUSIONS: Our study confirmed that the plasma NfL concentration is significantly higher in CMT patients than in controls. Plasma NfL concentration was found to significantly, albeit weakly, reflect the clinical severity of CMT. In the future, NfL may be used, either individually or collaboratively, as a biomarker in the clinical context of suspected CMT; however, several issues need to be addressed first

    Quality of life of families with children with disability in the area of physical wellbeing in Latvia

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    Family quality of life, just like quality of life in general is multidimensional by nature and reflects interaction of different areas and their influence on family life; for this reason it becomes possible to study it in the context of different approaches. Analyzing the areas of family quality of life highlighted by different authors it can be concluded that the analysis of family quality of life must include the following areas: material, physical, social and emotional wellbeing, and also describe the factors that affect family wellbeing. The research of family quality of life is crucial in order to reflect on family's ability to meet their needs, while the possibility for families to meet the needs largely depends on the support provided by the state, municipalities, NGOs and the society as a whole. Based on the study results, it is possible to identify the type of support needed for meeting children's special needs, and also to highlight the tendencies in how the lack of this support in area of physical wellbeing affects their family quality of life. This study reflects the factors that affect the quality of life in the area of physical wellbeing of the families with disabled children

    COMPUTER-SIMULATION OF MN2+ ELECTRON-PARAMAGNETIC-RES IN GLASSES WITH GEF=4.29

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    Plasma neurofilament light chain as a potential biomarker in Charcot‐Marie‐Tooth disease

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    BACKGROUND: Charcot-Marie-Tooth disease (CMT) is a chronic, slowly progressing disorder. The lack of specific disease progression biomarkers limits the execution of clinical trials. However, neurofilament light chain (NfL) has been suggested as a potential biomarker for peripheral nervous system disorders. METHODS: Ninety-six CMT patients and 60 healthy controls were enrolled in the study. Disease severity assessment included clinical evaluation with CMT Neuropathy Score version 2 (CMTNSv2). Blood plasma NfL concentrations were measured using the single molecule array (Simoa) NfL assay. RESULTS: The NfL concentration was significantly higher in the CMT patient group than in the controls (p<0.001). Of the CMT patients, ones with type CMTX1 had a higher NfL level than those in the two other analysed subgroups (CMT1A and other CMT types) (p=0.0498). The NfL concentration had a significant but weak correlation with the CMTNSv2 (rs =0.25, p=0.012). In one CMT patient with an extremely elevated NfL level, overlap with chronic inflammatory demyelinating polyneuropathy was suspected. ROC analysis showed that an NfL concentration of 8.9 pg/mL could be used to discriminate CMT patients from controls, with an area under the curve of 0.881. CONCLUSIONS: Our study confirmed that the plasma NfL concentration is significantly higher in CMT patients than in controls. Plasma NfL concentration was found to significantly, albeit weakly, reflect the clinical severity of CMT. In the future, NfL may be used, either individually or collaboratively, as a biomarker in the clinical context of suspected CMT; however, several issues need to be addressed first

    Mākslas terapijas izglītības desmit gadi Rīgas Stradiņa universitātē: No ieceres līdz profesijai

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    Grāmatā apkopotas 37 profesijas izveidē un izaugsmē iesaistītu ģeogrāfiski tuvu un tālu kolēģu intervijas. Šīs intervijas tika ievāktas, gatavojoties mākslu terapijas izglītības desmitgadei Rīgas Stradiņa universitātē, lai jubilejas reizē reflektētu par mākslu terapijas tapšanu – no dažādiem skatupunktiem, lai uzrunātu un atcerētos cilvēkus, kas ir devuši būtisku ieguldījumu profesijas attīstībā, tā veidojot daudzbalsīgu stāstījumu, fiksējot, kā notika Latvijas mākslu terapijas modeļa tapšana un attīstība
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