TY  - JOUR
AU  - Beletić, Anđelo
AU  - Mirković, Duško
AU  - Antonijević, Nebojša
AU  - Đorđević, Valentina
AU  - Šango, Violeta
AU  - Jakovljević, Branko
AU  - Peruničić, Jovan
AU  - Ilić, Mirka
AU  - Vasiljević, Zorana
AU  - Majkić-Singh, Nada
PY  - 2009
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/393
AB  - Hiperhomocisteinemija se smatra nezavisnim faktorom rizika za preuranjeni razvoj kardiovaskularnih bolesti. Mutacija MTHFR C677T snižava aktivnost metilentetra hidrofol atreduktaze i može dovesti do hiperhomocisteinemije. Incidenca hiperhomocisteinemije (homocisteinemija iz nad 12 μmol/L), nivo homocisteina i raspodela MTHFR 677 genotipova (C/C,C/T,T/T) upoređeni su između mladih bolesnika sa akutnim infarktom miokarda i zdravih osoba iste dobi. Studija je obuhvatila 86 bolesnika mlađih od 45 godina (77 muškaraca i 9 žena) i kontrolnu grupu od 35 osoba. Homocistein je određivan metodom HPLC, a MTHFR 677 genotip PCR amplifikacijom i digestijom sa Hinf I. Podaci su statistički obrađeni pomoću Chi-square i Mann-Whitney U testa. Hiper homocisteinemija je bila prisutna kod 32,6% bolesnika i 14,3% zdravih osoba, što pred stavlja statistički značajnu razliku (P=0,038). Medijane homocisteinemija bolesnika (10,4 μmol/L) i zdravih osoba (9,6 μmol/L) bile su statistički značajno različite (P= 0,035). Raspodela MTHFR 677 genotipova kod bolesnika (50,0% C/C, 41,9% C/T i 8,1% T/T) nije se statistički značajno razlikovala od raspodele u kontrolnoj grupi. Genotip MTHFR 677 nije uticao na incidencu hiperhomocisteinemije i nivo homocisteina kod bolesnika. Može se zaključiti da mlađi bolesnici sa akutnim infarktom miokarda imaju višu incidencu hiperhomocisteinemije i viši nivo homocisteina nego zdrave osobe iste starosti, pri čemu nema značajne razlike u raspodeli geno tipova MTHFR.
AB  - Hyperhomocysteinemia is considered an independent risk factor for premature cardiovascular disease. Mutation MTHFR C677T reduces the activity of methylene tetrahydrofolatereductase and may cause hyperhomocysteinemia. Incidence of hyperhomocysteinemia (homocysteine above 12 μmol/L), ho mocysteine level, and distribution of MTHFR C677T genotypes (C/C, C/T and 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 μmol/L) and controls (9.6 μmol/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 that 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  - Incidenca hiperhomocisteinemije i polimorfizam MTHFR C677T kod mladih bolesnika sa akutnim infarktom miokarda
T1  - Incidence of hyperhomocysteinemia and MTHFR C677T polymorphism among young patients with acute myocardial infarction
EP  - 45
IS  - 1
SP  - 41
VL  - 28
DO  - 10.2478/v10011-008-0029-9
ER  - 

@article{
author = "Beletić, Anđelo and Mirković, Duško and Antonijević, Nebojša and Đorđević, Valentina and Šango, Violeta and Jakovljević, Branko and Peruničić, Jovan and Ilić, Mirka and Vasiljević, Zorana and Majkić-Singh, Nada",
year = "2009",
abstract = "Hiperhomocisteinemija se smatra nezavisnim faktorom rizika za preuranjeni razvoj kardiovaskularnih bolesti. Mutacija MTHFR C677T snižava aktivnost metilentetra hidrofol atreduktaze i može dovesti do hiperhomocisteinemije. Incidenca hiperhomocisteinemije (homocisteinemija iz nad 12 μmol/L), nivo homocisteina i raspodela MTHFR 677 genotipova (C/C,C/T,T/T) upoređeni su između mladih bolesnika sa akutnim infarktom miokarda i zdravih osoba iste dobi. Studija je obuhvatila 86 bolesnika mlađih od 45 godina (77 muškaraca i 9 žena) i kontrolnu grupu od 35 osoba. Homocistein je određivan metodom HPLC, a MTHFR 677 genotip PCR amplifikacijom i digestijom sa Hinf I. Podaci su statistički obrađeni pomoću Chi-square i Mann-Whitney U testa. Hiper homocisteinemija je bila prisutna kod 32,6% bolesnika i 14,3% zdravih osoba, što pred stavlja statistički značajnu razliku (P=0,038). Medijane homocisteinemija bolesnika (10,4 μmol/L) i zdravih osoba (9,6 μmol/L) bile su statistički značajno različite (P= 0,035). Raspodela MTHFR 677 genotipova kod bolesnika (50,0% C/C, 41,9% C/T i 8,1% T/T) nije se statistički značajno razlikovala od raspodele u kontrolnoj grupi. Genotip MTHFR 677 nije uticao na incidencu hiperhomocisteinemije i nivo homocisteina kod bolesnika. Može se zaključiti da mlađi bolesnici sa akutnim infarktom miokarda imaju višu incidencu hiperhomocisteinemije i viši nivo homocisteina nego zdrave osobe iste starosti, pri čemu nema značajne razlike u raspodeli geno tipova MTHFR., Hyperhomocysteinemia is considered an independent risk factor for premature cardiovascular disease. Mutation MTHFR C677T reduces the activity of methylene tetrahydrofolatereductase and may cause hyperhomocysteinemia. Incidence of hyperhomocysteinemia (homocysteine above 12 μmol/L), ho mocysteine level, and distribution of MTHFR C677T genotypes (C/C, C/T and 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 μmol/L) and controls (9.6 μmol/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 that 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 = "Incidenca hiperhomocisteinemije i polimorfizam MTHFR C677T kod mladih bolesnika sa akutnim infarktom miokarda, Incidence of hyperhomocysteinemia and MTHFR C677T polymorphism among young patients with acute myocardial infarction",
pages = "45-41",
number = "1",
volume = "28",
doi = "10.2478/v10011-008-0029-9"
}

Beletić, A., Mirković, D., Antonijević, N., Đorđević, V., Šango, V., Jakovljević, B., Peruničić, J., Ilić, M., Vasiljević, Z.,& Majkić-Singh, N.. (2009). Incidenca hiperhomocisteinemije i polimorfizam MTHFR C677T kod mladih bolesnika sa akutnim infarktom miokarda. 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, Šango V, Jakovljević B, Peruničić J, Ilić M, Vasiljević Z, Majkić-Singh N. Incidenca hiperhomocisteinemije i polimorfizam MTHFR C677T kod mladih bolesnika sa akutnim infarktom miokarda. 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, Šango, Violeta, Jakovljević, Branko, Peruničić, Jovan, Ilić, Mirka, Vasiljević, Zorana, Majkić-Singh, Nada, "Incidenca hiperhomocisteinemije i polimorfizam MTHFR C677T kod mladih bolesnika sa akutnim infarktom miokarda" in Journal of Medical Biochemistry, 28, no. 1 (2009):41-45,
https://doi.org/10.2478/v10011-008-0029-9 . .

TY  - CONF
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://imagine.imgge.bg.ac.rs/handle/123456789/370
AB  - Nedostatak alfa-1-antitripsina je potencijalno smrtonosan genetski poremećaj sa pulmonarnim i hepatičnim manifestacijama. Uočljiva je potreba za standardizovanim protokolom detekcije klinički značajnih alela, koji bi uključivao biohemijske i molekularne metode. Rad prikazuje savremena shvatanja o nedostatku alfa-1-antitripsina, opisuje mogućnosti primene izoelektrofokusiranja i testa zasnovanog na kombinaciji PCR amplifikacije i reverzne hibridizacije sa alel-specifičnim oligonukleotidima i ukratko opisuje naša iskustva u toj oblasti dijagnostike. Može se zaključiti da bi, u kliničkim laboratorijama, kombinacija dveju pomenutih metoda, uz dodatne informacije dobijene kvantitativnom analizom, mogla predstavljati osnovu detekcije genetski uslovljenog nedostatka alfa-1-antitripsina. Neophodno je naglasiti da je za sveobuhvatnu medicinsku primenu takvog laboratorijskog protokola neophodna saradnja medicinskih biohemičara, molekularnih biologa i lekara odgovornih za lečenje bolesnika sa genetski uslovljenim nedostatkom alfa-1-antitripsina.
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
C3  - Journal of Medical Biochemistry
T1  - Izoelektrofokusiranje i PCR amplifikacija-reverzna hibridizacija u proceni nedostatka alfa-1-antitripsina
T1  - Isoelectrofocusing and PCR amplification-reverse hybridization assay in evaluation of alpha-1-antitrypsin deficiency
EP  - 247
IS  - 4
SP  - 241
VL  - 28
DO  - 10.2478/v10011-009-0023-x
ER  - 

@conference{
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 = "Nedostatak alfa-1-antitripsina je potencijalno smrtonosan genetski poremećaj sa pulmonarnim i hepatičnim manifestacijama. Uočljiva je potreba za standardizovanim protokolom detekcije klinički značajnih alela, koji bi uključivao biohemijske i molekularne metode. Rad prikazuje savremena shvatanja o nedostatku alfa-1-antitripsina, opisuje mogućnosti primene izoelektrofokusiranja i testa zasnovanog na kombinaciji PCR amplifikacije i reverzne hibridizacije sa alel-specifičnim oligonukleotidima i ukratko opisuje naša iskustva u toj oblasti dijagnostike. Može se zaključiti da bi, u kliničkim laboratorijama, kombinacija dveju pomenutih metoda, uz dodatne informacije dobijene kvantitativnom analizom, mogla predstavljati osnovu detekcije genetski uslovljenog nedostatka alfa-1-antitripsina. Neophodno je naglasiti da je za sveobuhvatnu medicinsku primenu takvog laboratorijskog protokola neophodna saradnja medicinskih biohemičara, molekularnih biologa i lekara odgovornih za lečenje bolesnika sa genetski uslovljenim nedostatkom alfa-1-antitripsina., 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 = "Izoelektrofokusiranje i PCR amplifikacija-reverzna hibridizacija u proceni nedostatka alfa-1-antitripsina, Isoelectrofocusing and PCR amplification-reverse hybridization assay in evaluation of alpha-1-antitrypsin deficiency",
pages = "247-241",
number = "4",
volume = "28",
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). Izoelektrofokusiranje i PCR amplifikacija-reverzna hibridizacija u proceni nedostatka alfa-1-antitripsina. 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. Izoelektrofokusiranje i PCR amplifikacija-reverzna hibridizacija u proceni nedostatka alfa-1-antitripsina. 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, "Izoelektrofokusiranje i PCR amplifikacija-reverzna hibridizacija u proceni nedostatka alfa-1-antitripsina" in Journal of Medical Biochemistry, 28, no. 4 (2009):241-247,
https://doi.org/10.2478/v10011-009-0023-x . .