TY  - JOUR
AU  - Beletić, Anđelo
AU  - Đorđević, Valentina
AU  - Dudvarski-Ilić, Aleksandra
AU  - Obradović, Ivana
AU  - Mirković, Duško
AU  - Ilić, Mirka
AU  - Radojković, Dragica
AU  - Majkić-Singh, Nada
PY  - 2009
UR  - https://farfar.pharmacy.bg.ac.rs/handle/123456789/1163
AB  - Alpha-1-antitrypsin deficiency is a potentially lethal genetic disorder, which has pulmonary and liver manifestations. The standardized biochemical and molecular diagnostic protocol for detection of clinically relevant alleles is needed. The paper summarizes current concepts about AATD, describes the potentials of isoelectric focusing and PCR amplification-reverse allele specific oligonucleotide hybridization assay in the detection of affected individuals and shortly presents our experiences in the evaluation of AATD. We conclude that the systematic clinical laboratory approach to AATD might be based on the combination of mentioned methods, coordinated by alpha-1-antritrypsin quantification. Additionally, its complete medical implementation is achieved through teamwork between clinical chemists, molecular biologists and clinicians.
PB  - Društvo medicinskih biohemičara Srbije, Beograd i Versita
T2  - Journal of Medical Biochemistry
T1  - Isoelectrofocusing and PCR Amplification-Reverse Hybridization Assay in Evaluation of Alpha-1-Antitrypsin Deficiency
VL  - 28
IS  - 4
SP  - 241
EP  - 247
DO  - 10.2478/v10011-009-0023-x
ER  - 

@article{
author = "Beletić, Anđelo and Đorđević, Valentina and Dudvarski-Ilić, Aleksandra and Obradović, Ivana and Mirković, Duško and Ilić, Mirka and Radojković, Dragica and Majkić-Singh, Nada",
year = "2009",
abstract = "Alpha-1-antitrypsin deficiency is a potentially lethal genetic disorder, which has pulmonary and liver manifestations. The standardized biochemical and molecular diagnostic protocol for detection of clinically relevant alleles is needed. The paper summarizes current concepts about AATD, describes the potentials of isoelectric focusing and PCR amplification-reverse allele specific oligonucleotide hybridization assay in the detection of affected individuals and shortly presents our experiences in the evaluation of AATD. We conclude that the systematic clinical laboratory approach to AATD might be based on the combination of mentioned methods, coordinated by alpha-1-antritrypsin quantification. Additionally, its complete medical implementation is achieved through teamwork between clinical chemists, molecular biologists and clinicians.",
publisher = "Društvo medicinskih biohemičara Srbije, Beograd i Versita",
journal = "Journal of Medical Biochemistry",
title = "Isoelectrofocusing and PCR Amplification-Reverse Hybridization Assay in Evaluation of Alpha-1-Antitrypsin Deficiency",
volume = "28",
number = "4",
pages = "241-247",
doi = "10.2478/v10011-009-0023-x"
}

Beletić, A., Đorđević, V., Dudvarski-Ilić, A., Obradović, I., Mirković, D., Ilić, M., Radojković, D.,& Majkić-Singh, N.. (2009). Isoelectrofocusing and PCR Amplification-Reverse Hybridization Assay in Evaluation of Alpha-1-Antitrypsin Deficiency. in Journal of Medical Biochemistry
Društvo medicinskih biohemičara Srbije, Beograd i Versita., 28(4), 241-247.
https://doi.org/10.2478/v10011-009-0023-x

Beletić A, Đorđević V, Dudvarski-Ilić A, Obradović I, Mirković D, Ilić M, Radojković D, Majkić-Singh N. Isoelectrofocusing and PCR Amplification-Reverse Hybridization Assay in Evaluation of Alpha-1-Antitrypsin Deficiency. in Journal of Medical Biochemistry. 2009;28(4):241-247.
doi:10.2478/v10011-009-0023-x .

Beletić, Anđelo, Đorđević, Valentina, Dudvarski-Ilić, Aleksandra, Obradović, Ivana, Mirković, Duško, Ilić, Mirka, Radojković, Dragica, Majkić-Singh, Nada, "Isoelectrofocusing and PCR Amplification-Reverse Hybridization Assay in Evaluation of Alpha-1-Antitrypsin Deficiency" in Journal of Medical Biochemistry, 28, no. 4 (2009):241-247,
https://doi.org/10.2478/v10011-009-0023-x . .

TY  - JOUR
AU  - Beletić, Anđelo
AU  - Mirković, Duško
AU  - Antonijević, Nebojša
AU  - Đorđević, Valentina
AU  - Sango, Violeta
AU  - Jakovljević, Branko
AU  - Perunicić, Jovan
AU  - Ilić, Mirka
AU  - Vasiljević, Zorana
AU  - Majkić-Singh, Nada
PY  - 2009
UR  - https://farfar.pharmacy.bg.ac.rs/handle/123456789/1168
AB  - Hyperhomocysteinemia is considered an independent risk factor for premature cardiovascular disease. Mutation MTHFR C677T reduces the activity of methylenetetra-hydrofolatereductase and may cause hyperhomocysteinemia. Incidence of hyperhomocysteinemia (homocysteine above 12 mu mol/L), homocysteine level, and distribution of MTHFR C677T genotypes (C/C, C/T and T/T) are T/T) are compared between young patients with acute myocardial infarction and healthy persons, matched by age. Study involved 86 patients younger than 45 years (77 men and 9 women) and 35 controls. Homocysteine was measured by an HPLC method and the MTHFR C677T genotype determined using PCR amplification and digestion with Hinf I. Statistical analyses included chisquare and Mann-Whitney U tests. Hyperhomocysteinemia was present in 32.6% patients and 14.3% controls, revealing a significant difference (P = 0.038). Median homocysteine levels in patients (10.4 mu mol/L) and controls (9.6 mu mol/L) were significantly different (P=0.035). Among patients, 50.0% had C/C, 41.9% C/T and 8.1% T/T genotype, and the genotype had no influence on hyperhomocysteinemia incidence and homocysteine level. Genotype distribution in patients was not significantly different from the observed in controls. The conclusion is that young patients with acute myocardial infarction have higher incidence of hyperhomocysteinemia and higher homocysteine levels than healthy young adults, while there is no significant difference in the distribution of MTHFR C677T genotypes.
PB  - Društvo medicinskih biohemičara Srbije, Beograd i Versita
T2  - Journal of Medical Biochemistry
T1  - Incidence of hyperhomocysteinemia and Mthfr C677T polymorphism among young patients with acute myocardial infarction
VL  - 28
IS  - 1
SP  - 41
EP  - 45
DO  - 10.2478/v10011-008-0029-9
ER  - 

@article{
author = "Beletić, Anđelo and Mirković, Duško and Antonijević, Nebojša and Đorđević, Valentina and Sango, Violeta and Jakovljević, Branko and Perunicić, Jovan and Ilić, Mirka and Vasiljević, Zorana and Majkić-Singh, Nada",
year = "2009",
abstract = "Hyperhomocysteinemia is considered an independent risk factor for premature cardiovascular disease. Mutation MTHFR C677T reduces the activity of methylenetetra-hydrofolatereductase and may cause hyperhomocysteinemia. Incidence of hyperhomocysteinemia (homocysteine above 12 mu mol/L), homocysteine level, and distribution of MTHFR C677T genotypes (C/C, C/T and T/T) are T/T) are compared between young patients with acute myocardial infarction and healthy persons, matched by age. Study involved 86 patients younger than 45 years (77 men and 9 women) and 35 controls. Homocysteine was measured by an HPLC method and the MTHFR C677T genotype determined using PCR amplification and digestion with Hinf I. Statistical analyses included chisquare and Mann-Whitney U tests. Hyperhomocysteinemia was present in 32.6% patients and 14.3% controls, revealing a significant difference (P = 0.038). Median homocysteine levels in patients (10.4 mu mol/L) and controls (9.6 mu mol/L) were significantly different (P=0.035). Among patients, 50.0% had C/C, 41.9% C/T and 8.1% T/T genotype, and the genotype had no influence on hyperhomocysteinemia incidence and homocysteine level. Genotype distribution in patients was not significantly different from the observed in controls. The conclusion is that young patients with acute myocardial infarction have higher incidence of hyperhomocysteinemia and higher homocysteine levels than healthy young adults, while there is no significant difference in the distribution of MTHFR C677T genotypes.",
publisher = "Društvo medicinskih biohemičara Srbije, Beograd i Versita",
journal = "Journal of Medical Biochemistry",
title = "Incidence of hyperhomocysteinemia and Mthfr C677T polymorphism among young patients with acute myocardial infarction",
volume = "28",
number = "1",
pages = "41-45",
doi = "10.2478/v10011-008-0029-9"
}

Beletić, A., Mirković, D., Antonijević, N., Đorđević, V., Sango, V., Jakovljević, B., Perunicić, J., Ilić, M., Vasiljević, Z.,& Majkić-Singh, N.. (2009). Incidence of hyperhomocysteinemia and Mthfr C677T polymorphism among young patients with acute myocardial infarction. in Journal of Medical Biochemistry
Društvo medicinskih biohemičara Srbije, Beograd i Versita., 28(1), 41-45.
https://doi.org/10.2478/v10011-008-0029-9

Beletić A, Mirković D, Antonijević N, Đorđević V, Sango V, Jakovljević B, Perunicić J, Ilić M, Vasiljević Z, Majkić-Singh N. Incidence of hyperhomocysteinemia and Mthfr C677T polymorphism among young patients with acute myocardial infarction. in Journal of Medical Biochemistry. 2009;28(1):41-45.
doi:10.2478/v10011-008-0029-9 .

Beletić, Anđelo, Mirković, Duško, Antonijević, Nebojša, Đorđević, Valentina, Sango, Violeta, Jakovljević, Branko, Perunicić, Jovan, Ilić, Mirka, Vasiljević, Zorana, Majkić-Singh, Nada, "Incidence of hyperhomocysteinemia and Mthfr C677T polymorphism among young patients with acute myocardial infarction" in Journal of Medical Biochemistry, 28, no. 1 (2009):41-45,
https://doi.org/10.2478/v10011-008-0029-9 . .