The Analysis of Genetic Markers of Muscle Dystonia

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The Analysis of Genetic Markers of Muscle Dystonia (en)
Анализа генетичких маркера мишићне дистоније (sr)
Analiza genetičkih markera mišićne distonije (sr_RS)
Authors

Publications

Clients' Perception of Outcome of Team-Based Prenatal and Reproductive Genetic Counseling in Serbian Service Using the Perceived Personal Control (PPC) Questionnaire

Cuturilo, Goran; Kontić-Vucinić, Olivera; Novaković, Ivana; Ignjatović, Svetlana; Mijović, Marija; Sulović, Nenad; Vukolić, Dušan; Komnenić, Milica; Tadić, Jasmina; Cetković, Aleksandar; Belić, Aleksandra; Ljubić, Aleksandar

(Springer, New York, 2016)

TY  - JOUR
AU  - Cuturilo, Goran
AU  - Kontić-Vucinić, Olivera
AU  - Novaković, Ivana
AU  - Ignjatović, Svetlana
AU  - Mijović, Marija
AU  - Sulović, Nenad
AU  - Vukolić, Dušan
AU  - Komnenić, Milica
AU  - Tadić, Jasmina
AU  - Cetković, Aleksandar
AU  - Belić, Aleksandra
AU  - Ljubić, Aleksandar
PY  - 2016
UR  - https://farfar.pharmacy.bg.ac.rs/handle/123456789/2572
AB  - This is the first study in Serbia and the region of South-East Europe dedicated to clients' perception of outcome and efficiency of prenatal and reproductive genetic counseling. The primary aim of this study was to assess overall value and success of genetic counseling in prenatal and reproductive care with regard to perceived personal control of clients, reflecting also in a part patient comprehension, knowledge retention, and empowerment in decision-making. The standardized Perceived Personal Control questionnaire (PPC) was used for the assessment of 239 female participants. First, we performed a complete validation of the psychometric characteristics of the Serbian-language version of the PPC questionnaire. The validation of the questionnaire permits other researchers from Serbian-speaking regions of South-East Europe to use this standard instrument to assess the effectiveness of prenatal genetic counseling in their communities and analyze advantages and disadvantages of their counseling models. We also measured social and demographic characteristics of participants. Further, we analyzed effects of our team-based prenatal and reproductive genetic counseling model through (a) calculation of PPC scores at three different stages (before initial, after initial, and before second counseling session), and (b) by assessing participants' responses by indication for referral (advanced maternal age, abnormal biochemical screening, family history of hereditary disorders, maternal exposure to drugs, exposure to radiation, exposure to infective agents, infertility or recurrent abortions, and miscellaneous). The results indicate that participants' knowledge after initial counseling increased significantly and after that remained stable and sustainable. A satisfactory level of confidence among participants had been achieved, in that many felt an increased sense of control over their situation and emotional response to it. Indirectly, these results indicate the success of a team-based prenatal genetic counseling model, which has not been assessed in the literature to date.
PB  - Springer, New York
T2  - Journal of Genetic Counseling
T1  - Clients' Perception of Outcome of Team-Based Prenatal and Reproductive Genetic Counseling in Serbian Service Using the Perceived Personal Control (PPC) Questionnaire
VL  - 25
IS  - 1
SP  - 189
EP  - 197
DO  - 10.1007/s10897-015-9857-1
ER  - 
@article{
author = "Cuturilo, Goran and Kontić-Vucinić, Olivera and Novaković, Ivana and Ignjatović, Svetlana and Mijović, Marija and Sulović, Nenad and Vukolić, Dušan and Komnenić, Milica and Tadić, Jasmina and Cetković, Aleksandar and Belić, Aleksandra and Ljubić, Aleksandar",
year = "2016",
abstract = "This is the first study in Serbia and the region of South-East Europe dedicated to clients' perception of outcome and efficiency of prenatal and reproductive genetic counseling. The primary aim of this study was to assess overall value and success of genetic counseling in prenatal and reproductive care with regard to perceived personal control of clients, reflecting also in a part patient comprehension, knowledge retention, and empowerment in decision-making. The standardized Perceived Personal Control questionnaire (PPC) was used for the assessment of 239 female participants. First, we performed a complete validation of the psychometric characteristics of the Serbian-language version of the PPC questionnaire. The validation of the questionnaire permits other researchers from Serbian-speaking regions of South-East Europe to use this standard instrument to assess the effectiveness of prenatal genetic counseling in their communities and analyze advantages and disadvantages of their counseling models. We also measured social and demographic characteristics of participants. Further, we analyzed effects of our team-based prenatal and reproductive genetic counseling model through (a) calculation of PPC scores at three different stages (before initial, after initial, and before second counseling session), and (b) by assessing participants' responses by indication for referral (advanced maternal age, abnormal biochemical screening, family history of hereditary disorders, maternal exposure to drugs, exposure to radiation, exposure to infective agents, infertility or recurrent abortions, and miscellaneous). The results indicate that participants' knowledge after initial counseling increased significantly and after that remained stable and sustainable. A satisfactory level of confidence among participants had been achieved, in that many felt an increased sense of control over their situation and emotional response to it. Indirectly, these results indicate the success of a team-based prenatal genetic counseling model, which has not been assessed in the literature to date.",
publisher = "Springer, New York",
journal = "Journal of Genetic Counseling",
title = "Clients' Perception of Outcome of Team-Based Prenatal and Reproductive Genetic Counseling in Serbian Service Using the Perceived Personal Control (PPC) Questionnaire",
volume = "25",
number = "1",
pages = "189-197",
doi = "10.1007/s10897-015-9857-1"
}
Cuturilo, G., Kontić-Vucinić, O., Novaković, I., Ignjatović, S., Mijović, M., Sulović, N., Vukolić, D., Komnenić, M., Tadić, J., Cetković, A., Belić, A.,& Ljubić, A.. (2016). Clients' Perception of Outcome of Team-Based Prenatal and Reproductive Genetic Counseling in Serbian Service Using the Perceived Personal Control (PPC) Questionnaire. in Journal of Genetic Counseling
Springer, New York., 25(1), 189-197.
https://doi.org/10.1007/s10897-015-9857-1
Cuturilo G, Kontić-Vucinić O, Novaković I, Ignjatović S, Mijović M, Sulović N, Vukolić D, Komnenić M, Tadić J, Cetković A, Belić A, Ljubić A. Clients' Perception of Outcome of Team-Based Prenatal and Reproductive Genetic Counseling in Serbian Service Using the Perceived Personal Control (PPC) Questionnaire. in Journal of Genetic Counseling. 2016;25(1):189-197.
doi:10.1007/s10897-015-9857-1 .
Cuturilo, Goran, Kontić-Vucinić, Olivera, Novaković, Ivana, Ignjatović, Svetlana, Mijović, Marija, Sulović, Nenad, Vukolić, Dušan, Komnenić, Milica, Tadić, Jasmina, Cetković, Aleksandar, Belić, Aleksandra, Ljubić, Aleksandar, "Clients' Perception of Outcome of Team-Based Prenatal and Reproductive Genetic Counseling in Serbian Service Using the Perceived Personal Control (PPC) Questionnaire" in Journal of Genetic Counseling, 25, no. 1 (2016):189-197,
https://doi.org/10.1007/s10897-015-9857-1 . .
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Introduction to Molecular genetic diagnostics

Novaković, Ivana; Maksimović, Nela; Pavlović, Aleksandra; Žarković, Milena; Rovcanin, Branislav; Mirković, Duško; Pekmezović, Tatjana; Cvetković, Dragana

(Društvo medicinskih biohemičara Srbije, Beograd i Versita, 2014)

TY  - JOUR
AU  - Novaković, Ivana
AU  - Maksimović, Nela
AU  - Pavlović, Aleksandra
AU  - Žarković, Milena
AU  - Rovcanin, Branislav
AU  - Mirković, Duško
AU  - Pekmezović, Tatjana
AU  - Cvetković, Dragana
PY  - 2014
UR  - https://farfar.pharmacy.bg.ac.rs/handle/123456789/2148
AB  - Molecular genetic testing is part of modern medical practice. DNA tests are an essential part of diagnostics and genetic counseling in single gene diseases, while their application in polygenic disorders is still limited. Pharmacogenetics studies DNA variants associated with variations in drug efficacy and toxicity, and tests in this field are being developed rapidly. The main method for molecular genetic testing is the polymerase chain reaction, with a number of modifications. New methods, such as next generation sequencing and DNA microarray, should allow simultaneous analysis of a number of genes, even whole genome sequencing. Ethical concerns in molecular genetic testing are very important, along with legislation. After molecular genetic testing, interpretation of results and genetic counseling should be done by professionals. With the example of thrombophilia, we discuss questions about genetic testing, its possibilities and promises.
PB  - Društvo medicinskih biohemičara Srbije, Beograd i Versita
T2  - Journal of Medical Biochemistry
T1  - Introduction to Molecular genetic diagnostics
VL  - 33
IS  - 1
SP  - 3
EP  - 7
DO  - 10.2478/jomb-2013-0039
ER  - 
@article{
author = "Novaković, Ivana and Maksimović, Nela and Pavlović, Aleksandra and Žarković, Milena and Rovcanin, Branislav and Mirković, Duško and Pekmezović, Tatjana and Cvetković, Dragana",
year = "2014",
abstract = "Molecular genetic testing is part of modern medical practice. DNA tests are an essential part of diagnostics and genetic counseling in single gene diseases, while their application in polygenic disorders is still limited. Pharmacogenetics studies DNA variants associated with variations in drug efficacy and toxicity, and tests in this field are being developed rapidly. The main method for molecular genetic testing is the polymerase chain reaction, with a number of modifications. New methods, such as next generation sequencing and DNA microarray, should allow simultaneous analysis of a number of genes, even whole genome sequencing. Ethical concerns in molecular genetic testing are very important, along with legislation. After molecular genetic testing, interpretation of results and genetic counseling should be done by professionals. With the example of thrombophilia, we discuss questions about genetic testing, its possibilities and promises.",
publisher = "Društvo medicinskih biohemičara Srbije, Beograd i Versita",
journal = "Journal of Medical Biochemistry",
title = "Introduction to Molecular genetic diagnostics",
volume = "33",
number = "1",
pages = "3-7",
doi = "10.2478/jomb-2013-0039"
}
Novaković, I., Maksimović, N., Pavlović, A., Žarković, M., Rovcanin, B., Mirković, D., Pekmezović, T.,& Cvetković, D.. (2014). Introduction to Molecular genetic diagnostics. in Journal of Medical Biochemistry
Društvo medicinskih biohemičara Srbije, Beograd i Versita., 33(1), 3-7.
https://doi.org/10.2478/jomb-2013-0039
Novaković I, Maksimović N, Pavlović A, Žarković M, Rovcanin B, Mirković D, Pekmezović T, Cvetković D. Introduction to Molecular genetic diagnostics. in Journal of Medical Biochemistry. 2014;33(1):3-7.
doi:10.2478/jomb-2013-0039 .
Novaković, Ivana, Maksimović, Nela, Pavlović, Aleksandra, Žarković, Milena, Rovcanin, Branislav, Mirković, Duško, Pekmezović, Tatjana, Cvetković, Dragana, "Introduction to Molecular genetic diagnostics" in Journal of Medical Biochemistry, 33, no. 1 (2014):3-7,
https://doi.org/10.2478/jomb-2013-0039 . .
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