Beletić, Anđelo

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orcid::0000-0001-8975-9600
  • Beletić, Anđelo (10)
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Interpretative cut-off for alpha-1-antitrypsin concentration in detection of alpha-1-antitrypsin deficiency among adults - a pilot study in the Republic of Serbia

Beletić, Anđelo; Dudvarski-Ilić, A.; Nagorni-Obradović, L.; Milenković, B.; Ljujić, Mila; Radojković, Dragica; Đorđević, Valentina; Stanković, S.

(Elsevier, Amsterdam, 2022)

TY  - CONF
AU  - Beletić, Anđelo
AU  - Dudvarski-Ilić, A.
AU  - Nagorni-Obradović, L.
AU  - Milenković, B.
AU  - Ljujić, Mila
AU  - Radojković, Dragica
AU  - Đorđević, Valentina
AU  - Stanković, S.
PY  - 2022
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1597
PB  - Elsevier, Amsterdam
C3  - Clinica Chimica Acta
T1  - Interpretative cut-off for alpha-1-antitrypsin concentration in detection of alpha-1-antitrypsin deficiency among adults - a pilot study in the Republic of Serbia
EP  - S345
SP  - S344
VL  - 530
DO  - 10.1016/j.cca.2022.04.893
ER  - 
@conference{
author = "Beletić, Anđelo and Dudvarski-Ilić, A. and Nagorni-Obradović, L. and Milenković, B. and Ljujić, Mila and Radojković, Dragica and Đorđević, Valentina and Stanković, S.",
year = "2022",
publisher = "Elsevier, Amsterdam",
journal = "Clinica Chimica Acta",
title = "Interpretative cut-off for alpha-1-antitrypsin concentration in detection of alpha-1-antitrypsin deficiency among adults - a pilot study in the Republic of Serbia",
pages = "S345-S344",
volume = "530",
doi = "10.1016/j.cca.2022.04.893"
}
Beletić, A., Dudvarski-Ilić, A., Nagorni-Obradović, L., Milenković, B., Ljujić, M., Radojković, D., Đorđević, V.,& Stanković, S.. (2022). Interpretative cut-off for alpha-1-antitrypsin concentration in detection of alpha-1-antitrypsin deficiency among adults - a pilot study in the Republic of Serbia. in Clinica Chimica Acta
Elsevier, Amsterdam., 530, S344-S345.
https://doi.org/10.1016/j.cca.2022.04.893
Beletić A, Dudvarski-Ilić A, Nagorni-Obradović L, Milenković B, Ljujić M, Radojković D, Đorđević V, Stanković S. Interpretative cut-off for alpha-1-antitrypsin concentration in detection of alpha-1-antitrypsin deficiency among adults - a pilot study in the Republic of Serbia. in Clinica Chimica Acta. 2022;530:S344-S345.
doi:10.1016/j.cca.2022.04.893 .
Beletić, Anđelo, Dudvarski-Ilić, A., Nagorni-Obradović, L., Milenković, B., Ljujić, Mila, Radojković, Dragica, Đorđević, Valentina, Stanković, S., "Interpretative cut-off for alpha-1-antitrypsin concentration in detection of alpha-1-antitrypsin deficiency among adults - a pilot study in the Republic of Serbia" in Clinica Chimica Acta, 530 (2022):S344-S345,
https://doi.org/10.1016/j.cca.2022.04.893 . .

Interpretative cut-off for alpha-1-antitrypsin concentration in detection of alpha-1-antitrypsin deficiency among pediatric patients - A pilot study

Beletić, Anđelo; Leković, Z.; Zivković, Z.; Radlović, N.; Perisić, V.; Ljujić, Mila; Radojković, Dragica; Đorđević, Valentina; Stanković, S.

(Elsevier, Amsterdam, 2019)

TY  - CONF
AU  - Beletić, Anđelo
AU  - Leković, Z.
AU  - Zivković, Z.
AU  - Radlović, N.
AU  - Perisić, V.
AU  - Ljujić, Mila
AU  - Radojković, Dragica
AU  - Đorđević, Valentina
AU  - Stanković, S.
PY  - 2019
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1226
AB  - Background-aim
Alpha-1-antitrypsin deficiency (AATD) is an autosomal recessive
disorder characterized by the reduced alpha-1-antitrypsin (AAT)
level in blood. In pediatric patients, it is dominantly tested as a cause
of liver disease, while specific lung diseases might be potentially
regarded as additional indications. Measurement of AAT concentration is useful as a first-line test, although decreased level may be also
encountered in certain acquired conditions. Our aim was to
determine the interpretative cut-off for AAT concentration i.e. level
below which the presence of common AATD-associated alleles might
be suspected.
Methods
We included 37 subjects with clinical indications or familiar
history of AATD: 19 males and 18 females, aged between 2 months
and 19 years. Immunonephelometry was used for measurement of
AAT concentration in serum and PCR-reverse allele specific hybridization assay for detection of Z and S alleles, which are considered as
the common AATD-associated alleles. Kruskal-Wallis test and ROC
analysis were applied in statistical evaluation.
Results
Three cases of AATD (ZZ genotype) and 14 carriers (13
heterozygous for Z and one for S allele) were detected. AAT
concentration (median (min-max)) measured in AATD cases (0.35
(0.31–0.39) g/L), carriers (0.81 (0.56–1.41) g/L) and patients with
no Z and S allele (1.20 (0.91–2.24) g/L) were significantly different
(P b .001). Four carriers (three heterozygous for Z and one for S
allele) had AAT concentration in the reference range (0.9–2.0 g/L).
We identified the level 1.03 g/L as the most appropriate cut-off to
distinguish group comprising both cases of AATD and carriers from
patients in whom no common AATD-associated allele was present.
Corresponding AUC value (95% Confidence interval (CI)) was 0.929
(0.795–0.987) (P b .001). Sensitivity and specificity (95% CI) reached
94.1 (71.3–99.9)% and 90.0 (68.3–98.8)% respectively.
Conclusions
In pediatric patients AAT concentration below 1.03 g/L may be
regarded as a potential cut-off indicating the presence of common
AATD-associated alleles in homo-or heterozygous form. Nevertheless, this preliminary finding needs confirmation in a larger study.
PB  - Elsevier, Amsterdam
C3  - Clinica Chimica Acta
T1  - Interpretative cut-off for alpha-1-antitrypsin concentration in detection of alpha-1-antitrypsin deficiency among pediatric patients - A pilot study
EP  - S455
SP  - S455
VL  - 493
DO  - 10.1016/j.cca.2019.03.964
ER  - 
@conference{
author = "Beletić, Anđelo and Leković, Z. and Zivković, Z. and Radlović, N. and Perisić, V. and Ljujić, Mila and Radojković, Dragica and Đorđević, Valentina and Stanković, S.",
year = "2019",
abstract = "Background-aim
Alpha-1-antitrypsin deficiency (AATD) is an autosomal recessive
disorder characterized by the reduced alpha-1-antitrypsin (AAT)
level in blood. In pediatric patients, it is dominantly tested as a cause
of liver disease, while specific lung diseases might be potentially
regarded as additional indications. Measurement of AAT concentration is useful as a first-line test, although decreased level may be also
encountered in certain acquired conditions. Our aim was to
determine the interpretative cut-off for AAT concentration i.e. level
below which the presence of common AATD-associated alleles might
be suspected.
Methods
We included 37 subjects with clinical indications or familiar
history of AATD: 19 males and 18 females, aged between 2 months
and 19 years. Immunonephelometry was used for measurement of
AAT concentration in serum and PCR-reverse allele specific hybridization assay for detection of Z and S alleles, which are considered as
the common AATD-associated alleles. Kruskal-Wallis test and ROC
analysis were applied in statistical evaluation.
Results
Three cases of AATD (ZZ genotype) and 14 carriers (13
heterozygous for Z and one for S allele) were detected. AAT
concentration (median (min-max)) measured in AATD cases (0.35
(0.31–0.39) g/L), carriers (0.81 (0.56–1.41) g/L) and patients with
no Z and S allele (1.20 (0.91–2.24) g/L) were significantly different
(P b .001). Four carriers (three heterozygous for Z and one for S
allele) had AAT concentration in the reference range (0.9–2.0 g/L).
We identified the level 1.03 g/L as the most appropriate cut-off to
distinguish group comprising both cases of AATD and carriers from
patients in whom no common AATD-associated allele was present.
Corresponding AUC value (95% Confidence interval (CI)) was 0.929
(0.795–0.987) (P b .001). Sensitivity and specificity (95% CI) reached
94.1 (71.3–99.9)% and 90.0 (68.3–98.8)% respectively.
Conclusions
In pediatric patients AAT concentration below 1.03 g/L may be
regarded as a potential cut-off indicating the presence of common
AATD-associated alleles in homo-or heterozygous form. Nevertheless, this preliminary finding needs confirmation in a larger study.",
publisher = "Elsevier, Amsterdam",
journal = "Clinica Chimica Acta",
title = "Interpretative cut-off for alpha-1-antitrypsin concentration in detection of alpha-1-antitrypsin deficiency among pediatric patients - A pilot study",
pages = "S455-S455",
volume = "493",
doi = "10.1016/j.cca.2019.03.964"
}
Beletić, A., Leković, Z., Zivković, Z., Radlović, N., Perisić, V., Ljujić, M., Radojković, D., Đorđević, V.,& Stanković, S.. (2019). Interpretative cut-off for alpha-1-antitrypsin concentration in detection of alpha-1-antitrypsin deficiency among pediatric patients - A pilot study. in Clinica Chimica Acta
Elsevier, Amsterdam., 493, S455-S455.
https://doi.org/10.1016/j.cca.2019.03.964
Beletić A, Leković Z, Zivković Z, Radlović N, Perisić V, Ljujić M, Radojković D, Đorđević V, Stanković S. Interpretative cut-off for alpha-1-antitrypsin concentration in detection of alpha-1-antitrypsin deficiency among pediatric patients - A pilot study. in Clinica Chimica Acta. 2019;493:S455-S455.
doi:10.1016/j.cca.2019.03.964 .
Beletić, Anđelo, Leković, Z., Zivković, Z., Radlović, N., Perisić, V., Ljujić, Mila, Radojković, Dragica, Đorđević, Valentina, Stanković, S., "Interpretative cut-off for alpha-1-antitrypsin concentration in detection of alpha-1-antitrypsin deficiency among pediatric patients - A pilot study" in Clinica Chimica Acta, 493 (2019):S455-S455,
https://doi.org/10.1016/j.cca.2019.03.964 . .

Neizvesna pouzdanost homocisteina kao metaboličkog markera za nedostatak folata i vitamina B12 kod pacijenata sa hroničnom opstruktivnom bolešću pluća

Beletić, Anđelo; Mirković, Duško; Dudvarski-Llić, Aleksandra; Milenković, Branislava; Nagorni-Obradović, Ljudmila; Đorđević, Valentina; Ignjatović, Svetlana; Majkić-Singh, Nada

(Društvo medicinskih biohemičara Srbije, Beograd i Versita, 2015)

TY  - JOUR
AU  - Beletić, Anđelo
AU  - Mirković, Duško
AU  - Dudvarski-Llić, Aleksandra
AU  - Milenković, Branislava
AU  - Nagorni-Obradović, Ljudmila
AU  - Đorđević, Valentina
AU  - Ignjatović, Svetlana
AU  - Majkić-Singh, Nada
PY  - 2015
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/839
AB  - Uvod: Povišena koncentracija homocisteina (Hey) može predstavljati metabolički marker nedostatka folata i vitamina B12, značajnih problema javnog zdravlja. Bolesnici sa hroničnom opstruktivnom bolešću pluća (HOBP) skloni su nedostatku ovih vitamina usled različitih razloga. Prikazana studija procenjuje pouzdanost koncentracije Hcy kao prediktora nedostatka folata i vitamina B12 kod ovih bolesnika. Metode: Studija je sprovedena u grupi od 50 osoba obolelih od HOBP (28 muškaraca/22 žene, starosti (x±SD = 49,0±14,5) godina. Koncentracije Hcy, folata i vitamina B12 su određivane hemiluminiscentnim imunoodređivanjem na mikročesticama. Statistička analiza je uključila testove Kolmogorov-Smirnov, Mann-Whitney U and x2, Spearman-ovu korelaciju i ROC analizu, uz nivo značajnosti od 0,05. Rezultati: Prosečne (SD) koncentracije folata i vitamina B-12 su iznosile 4,15 (2,16) pg/L i 465,6 (271,0) ng/L, pri čemu je samo kod vitamina B12 uočena korelacija sa nivoom Hcy (R =-0,510 (P=0,029)). Koncentracije vitamina se nisu razlikovale između polova, a starost je bila u korelaciji samo sa nivoom folata (R= 0,279 (P=0,047)). Incidenca nedostatka vitamina značajno se razlikovala (P=0,000 i P lt 0,000 za folat odn. vitamin B12) u zavisnosti od cut-off vrednosti u odnosu na koju je definisana (4,4; 6,6 i 8,0 pg/L - folat; 203 i 473 ng/L - vitamin B-12)-ROC analizom nije bilo moguće dokazati značaj hiperhomocisteinemije kao prediktora deficijencije. Zaključak: Pouzdanost koncentracije Hey kao markera nedostatka folata ili vitamina B12 kod bolesnika sa HOBP nije zadovoljavajuća, pa se deficijencija ovih vitamina ne može predvideti na osnovu pojave hiperhomocisteinemije.
AB  - Background: An increased homocysteine (Hey) concentration may represent a metabolic marker of folate and vitamin Bi2 deficiency, both significant public health problems. For different reasons, patients with chronic obstructive pulmonary disease (COPD) are prone to these deficiencies. The study evaluates the reliability of Hey concentration in predicting folate or vitamin B12 deficiency in these patients. Methods: A group of 50 COPD patients (28 males/22 females, age (x±S D = 49.0±14.5) years was enrolled. A chemiluminescent microparticle immunoassay was applied for homocysteine, folate and vitamin B12 concentration. Kolmogorov-Smirnov, Mann-Whitney U and x2 tests, Spearman's correlation and ROC analysis were included in the statistical analysis, with the level of significance set at 0.05. Results: Average (SD) concentrations of folate and vitamin B12 were 4.15 (2.16) pg/L and 465.6 (271.0) ng/L, whereas only vitamin B12 correlated with the Hey level (P =-0.510 (R=0.029)). Gender related differences were not significant and only a borderline significant correlation between age and folate was confirmed (R = 0.279 (P=0.047)). The incidence of folate and vitamin B12 deficiency differed significantly (P=0.000 and PcO.OOO for folate and vitamin B12 respectively), depending on the cutoff used for classification (4.4, 6.6 and 8.0 pg/L - folate; 203 and 473 ng/L - vitamin B12)-ROC analyses failed to show any significance of hyperhomocysteinemia as a predictor of folate or vitamin B12 deficiency. Conclusion: Reliability of the Hey concentration as a biomarker of folate or vitamin B12 depletion in COPD patients is not satisfactory, so their deficiency cannot be predicted by the occurrence of HHcy.
PB  - Društvo medicinskih biohemičara Srbije, Beograd i Versita
T2  - Journal of Medical Biochemistry
T1  - Neizvesna pouzdanost homocisteina kao metaboličkog markera za nedostatak folata i vitamina B12 kod pacijenata sa hroničnom opstruktivnom bolešću pluća
T1  - Questionable reliability of homocysteine as the metabolic marker for folate and vitamin B12 deficiency in patients with chronic obstructive pulmonary disease
EP  - 472
IS  - 4
SP  - 467
VL  - 34
DO  - 10.2478/jomb-2014-0046
ER  - 
@article{
author = "Beletić, Anđelo and Mirković, Duško and Dudvarski-Llić, Aleksandra and Milenković, Branislava and Nagorni-Obradović, Ljudmila and Đorđević, Valentina and Ignjatović, Svetlana and Majkić-Singh, Nada",
year = "2015",
abstract = "Uvod: Povišena koncentracija homocisteina (Hey) može predstavljati metabolički marker nedostatka folata i vitamina B12, značajnih problema javnog zdravlja. Bolesnici sa hroničnom opstruktivnom bolešću pluća (HOBP) skloni su nedostatku ovih vitamina usled različitih razloga. Prikazana studija procenjuje pouzdanost koncentracije Hcy kao prediktora nedostatka folata i vitamina B12 kod ovih bolesnika. Metode: Studija je sprovedena u grupi od 50 osoba obolelih od HOBP (28 muškaraca/22 žene, starosti (x±SD = 49,0±14,5) godina. Koncentracije Hcy, folata i vitamina B12 su određivane hemiluminiscentnim imunoodređivanjem na mikročesticama. Statistička analiza je uključila testove Kolmogorov-Smirnov, Mann-Whitney U and x2, Spearman-ovu korelaciju i ROC analizu, uz nivo značajnosti od 0,05. Rezultati: Prosečne (SD) koncentracije folata i vitamina B-12 su iznosile 4,15 (2,16) pg/L i 465,6 (271,0) ng/L, pri čemu je samo kod vitamina B12 uočena korelacija sa nivoom Hcy (R =-0,510 (P=0,029)). Koncentracije vitamina se nisu razlikovale između polova, a starost je bila u korelaciji samo sa nivoom folata (R= 0,279 (P=0,047)). Incidenca nedostatka vitamina značajno se razlikovala (P=0,000 i P lt 0,000 za folat odn. vitamin B12) u zavisnosti od cut-off vrednosti u odnosu na koju je definisana (4,4; 6,6 i 8,0 pg/L - folat; 203 i 473 ng/L - vitamin B-12)-ROC analizom nije bilo moguće dokazati značaj hiperhomocisteinemije kao prediktora deficijencije. Zaključak: Pouzdanost koncentracije Hey kao markera nedostatka folata ili vitamina B12 kod bolesnika sa HOBP nije zadovoljavajuća, pa se deficijencija ovih vitamina ne može predvideti na osnovu pojave hiperhomocisteinemije., Background: An increased homocysteine (Hey) concentration may represent a metabolic marker of folate and vitamin Bi2 deficiency, both significant public health problems. For different reasons, patients with chronic obstructive pulmonary disease (COPD) are prone to these deficiencies. The study evaluates the reliability of Hey concentration in predicting folate or vitamin B12 deficiency in these patients. Methods: A group of 50 COPD patients (28 males/22 females, age (x±S D = 49.0±14.5) years was enrolled. A chemiluminescent microparticle immunoassay was applied for homocysteine, folate and vitamin B12 concentration. Kolmogorov-Smirnov, Mann-Whitney U and x2 tests, Spearman's correlation and ROC analysis were included in the statistical analysis, with the level of significance set at 0.05. Results: Average (SD) concentrations of folate and vitamin B12 were 4.15 (2.16) pg/L and 465.6 (271.0) ng/L, whereas only vitamin B12 correlated with the Hey level (P =-0.510 (R=0.029)). Gender related differences were not significant and only a borderline significant correlation between age and folate was confirmed (R = 0.279 (P=0.047)). The incidence of folate and vitamin B12 deficiency differed significantly (P=0.000 and PcO.OOO for folate and vitamin B12 respectively), depending on the cutoff used for classification (4.4, 6.6 and 8.0 pg/L - folate; 203 and 473 ng/L - vitamin B12)-ROC analyses failed to show any significance of hyperhomocysteinemia as a predictor of folate or vitamin B12 deficiency. Conclusion: Reliability of the Hey concentration as a biomarker of folate or vitamin B12 depletion in COPD patients is not satisfactory, so their deficiency cannot be predicted by the occurrence of HHcy.",
publisher = "Društvo medicinskih biohemičara Srbije, Beograd i Versita",
journal = "Journal of Medical Biochemistry",
title = "Neizvesna pouzdanost homocisteina kao metaboličkog markera za nedostatak folata i vitamina B12 kod pacijenata sa hroničnom opstruktivnom bolešću pluća, Questionable reliability of homocysteine as the metabolic marker for folate and vitamin B12 deficiency in patients with chronic obstructive pulmonary disease",
pages = "472-467",
number = "4",
volume = "34",
doi = "10.2478/jomb-2014-0046"
}
Beletić, A., Mirković, D., Dudvarski-Llić, A., Milenković, B., Nagorni-Obradović, L., Đorđević, V., Ignjatović, S.,& Majkić-Singh, N.. (2015). Neizvesna pouzdanost homocisteina kao metaboličkog markera za nedostatak folata i vitamina B12 kod pacijenata sa hroničnom opstruktivnom bolešću pluća. in Journal of Medical Biochemistry
Društvo medicinskih biohemičara Srbije, Beograd i Versita., 34(4), 467-472.
https://doi.org/10.2478/jomb-2014-0046
Beletić A, Mirković D, Dudvarski-Llić A, Milenković B, Nagorni-Obradović L, Đorđević V, Ignjatović S, Majkić-Singh N. Neizvesna pouzdanost homocisteina kao metaboličkog markera za nedostatak folata i vitamina B12 kod pacijenata sa hroničnom opstruktivnom bolešću pluća. in Journal of Medical Biochemistry. 2015;34(4):467-472.
doi:10.2478/jomb-2014-0046 .
Beletić, Anđelo, Mirković, Duško, Dudvarski-Llić, Aleksandra, Milenković, Branislava, Nagorni-Obradović, Ljudmila, Đorđević, Valentina, Ignjatović, Svetlana, Majkić-Singh, Nada, "Neizvesna pouzdanost homocisteina kao metaboličkog markera za nedostatak folata i vitamina B12 kod pacijenata sa hroničnom opstruktivnom bolešću pluća" in Journal of Medical Biochemistry, 34, no. 4 (2015):467-472,
https://doi.org/10.2478/jomb-2014-0046 . .
4
4
2
3

Is an integrative laboratory algorithm more effective in detecting alpha-1-antitrypsin deficiency in patients with premature chronic obstructive pulmonary disease than AAT concentration based screening approach?

Beletić, Anđelo; Dudvarski-Ilić, Aleksandra; Milenković, Branislava; Nagorni-Obradović, Ljudmila; Ljujić, Mila; Đorđević, Valentina; Mirković, Dusko; Radojković, Dragica; Majkic-Singh, Nada

(Croatian Soc Medical Biochemists, Zagreb, 2014)

TY  - JOUR
AU  - Beletić, Anđelo
AU  - Dudvarski-Ilić, Aleksandra
AU  - Milenković, Branislava
AU  - Nagorni-Obradović, Ljudmila
AU  - Ljujić, Mila
AU  - Đorđević, Valentina
AU  - Mirković, Dusko
AU  - Radojković, Dragica
AU  - Majkic-Singh, Nada
PY  - 2014
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/715
AB  - Introduction: Alpha-1-antitrypsin deficiency (AATD), genetic risk factor for premature chronic obstructive pulmonary disease (COPD), often remains undetected. The aim of our study was to analyse the effectiveness of an integrative laboratory algorithm for AATD detection in patients diagnosed with COPD by the age of 45 years, in comparison with the screening approach based on AAT concentration measurement alone. Subjects and methods: 50 unrelated patients (28 males / 22 females, age 52 (24-75 years) diagnosed with COPD before the age of 45 years were enrolled. Immunonephelometric assay for alpha-1-antitrypsin (AAT) and PCR-reverse hybridization for Z and S allele were first-line, and isoelectric focusing and DNA sequencing (ABI Prism BigDye) were reflex tests. Results: AATD associated genotypes were detected in 7 patients (5 ZZ, 1 ZM(malton), 1 ZQ0(amersfoort)), 10 were heterozygous carriers (8 MZ and 2 MS genotypes) and 33 were without AATD (MM genotype). Carriers and patients without AATD had comparable AAT concentrations (P = 0.125). In majority of participants (48) first line tests were sufficient to analyze AATD presence. In two remaining cases reflex tests identified rare alleles, M-malton and Q0(amersfoort), the later one being reported for the first time in Serbian population. Detection rate did not differ between algorithm and screening both for AATD (P = 0.500) and carriers (P = 0.063). Conclusion: There is a high prevalence of AATD affected subjects and carriers in a group of patients with premature COPD. The use of integrative laboratory algorithm does not improve the effectiveness of AATD detection in comparison with the screening based on AAT concentration alone.
PB  - Croatian Soc Medical Biochemists, Zagreb
T2  - Biochemia Medica
T1  - Is an integrative laboratory algorithm more effective in detecting alpha-1-antitrypsin deficiency in patients with premature chronic obstructive pulmonary disease than AAT concentration based screening approach?
EP  - 298
IS  - 2
SP  - 293
VL  - 24
DO  - 10.11613/BM.2014.032
ER  - 
@article{
author = "Beletić, Anđelo and Dudvarski-Ilić, Aleksandra and Milenković, Branislava and Nagorni-Obradović, Ljudmila and Ljujić, Mila and Đorđević, Valentina and Mirković, Dusko and Radojković, Dragica and Majkic-Singh, Nada",
year = "2014",
abstract = "Introduction: Alpha-1-antitrypsin deficiency (AATD), genetic risk factor for premature chronic obstructive pulmonary disease (COPD), often remains undetected. The aim of our study was to analyse the effectiveness of an integrative laboratory algorithm for AATD detection in patients diagnosed with COPD by the age of 45 years, in comparison with the screening approach based on AAT concentration measurement alone. Subjects and methods: 50 unrelated patients (28 males / 22 females, age 52 (24-75 years) diagnosed with COPD before the age of 45 years were enrolled. Immunonephelometric assay for alpha-1-antitrypsin (AAT) and PCR-reverse hybridization for Z and S allele were first-line, and isoelectric focusing and DNA sequencing (ABI Prism BigDye) were reflex tests. Results: AATD associated genotypes were detected in 7 patients (5 ZZ, 1 ZM(malton), 1 ZQ0(amersfoort)), 10 were heterozygous carriers (8 MZ and 2 MS genotypes) and 33 were without AATD (MM genotype). Carriers and patients without AATD had comparable AAT concentrations (P = 0.125). In majority of participants (48) first line tests were sufficient to analyze AATD presence. In two remaining cases reflex tests identified rare alleles, M-malton and Q0(amersfoort), the later one being reported for the first time in Serbian population. Detection rate did not differ between algorithm and screening both for AATD (P = 0.500) and carriers (P = 0.063). Conclusion: There is a high prevalence of AATD affected subjects and carriers in a group of patients with premature COPD. The use of integrative laboratory algorithm does not improve the effectiveness of AATD detection in comparison with the screening based on AAT concentration alone.",
publisher = "Croatian Soc Medical Biochemists, Zagreb",
journal = "Biochemia Medica",
title = "Is an integrative laboratory algorithm more effective in detecting alpha-1-antitrypsin deficiency in patients with premature chronic obstructive pulmonary disease than AAT concentration based screening approach?",
pages = "298-293",
number = "2",
volume = "24",
doi = "10.11613/BM.2014.032"
}
Beletić, A., Dudvarski-Ilić, A., Milenković, B., Nagorni-Obradović, L., Ljujić, M., Đorđević, V., Mirković, D., Radojković, D.,& Majkic-Singh, N.. (2014). Is an integrative laboratory algorithm more effective in detecting alpha-1-antitrypsin deficiency in patients with premature chronic obstructive pulmonary disease than AAT concentration based screening approach?. in Biochemia Medica
Croatian Soc Medical Biochemists, Zagreb., 24(2), 293-298.
https://doi.org/10.11613/BM.2014.032
Beletić A, Dudvarski-Ilić A, Milenković B, Nagorni-Obradović L, Ljujić M, Đorđević V, Mirković D, Radojković D, Majkic-Singh N. Is an integrative laboratory algorithm more effective in detecting alpha-1-antitrypsin deficiency in patients with premature chronic obstructive pulmonary disease than AAT concentration based screening approach?. in Biochemia Medica. 2014;24(2):293-298.
doi:10.11613/BM.2014.032 .
Beletić, Anđelo, Dudvarski-Ilić, Aleksandra, Milenković, Branislava, Nagorni-Obradović, Ljudmila, Ljujić, Mila, Đorđević, Valentina, Mirković, Dusko, Radojković, Dragica, Majkic-Singh, Nada, "Is an integrative laboratory algorithm more effective in detecting alpha-1-antitrypsin deficiency in patients with premature chronic obstructive pulmonary disease than AAT concentration based screening approach?" in Biochemia Medica, 24, no. 2 (2014):293-298,
https://doi.org/10.11613/BM.2014.032 . .
6
3
5

Deficijencija alfa-1-antitripsina - molekulske osnove, kliničke manifestacije, terapijske mogućnosti i integrativni pristup u dijagnostici

Beletić, Anđelo; Dudvarski-Ilić, Aleksandra; Milenković, Branislava; Nagorni-Obradović, Ljudmila; Ljujić, Mila; Đorđević, Valentina; Radojković, Dragica; Majkić-Singh, Nada

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

TY  - JOUR
AU  - Beletić, Anđelo
AU  - Dudvarski-Ilić, Aleksandra
AU  - Milenković, Branislava
AU  - Nagorni-Obradović, Ljudmila
AU  - Ljujić, Mila
AU  - Đorđević, Valentina
AU  - Radojković, Dragica
AU  - Majkić-Singh, Nada
PY  - 2014
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/767
AB  - Primarna uloga alfa-1-antitripsina (AAT) jeste da zaštiti plućni parenhim od proteolize dejstvom neutrofilne elastaze. Njegovu biosintezu kontroliše izuzetno polimorfni GEN SERPINA1. Deficijencija AAT (AATD) jeste autozomalno recesivno oboljenje i smatra se najčešćim genetskim uzrokom oboljenja jetre kod dece i emfizema kod odraslih. Prema učestalosti, deficijentni aleli se mogu podeliti na "česte" (Z i S) i "retke" (Mmalton, Mheerlen, Mprocida itd.). Za vrstu, intenzitet i vremenski period u kome se razvijaju kliničke manifestacije smatra se odgovornim interakcija AATD i dodatnih genetskih i stečenih faktora rizika (pušenje, izloženost aerozagađenju i sl.). Kod obolelih se najčešće javljaju preuranjen emfizem, hronični hepatitis, ciroza i hepatocelularni karcinom. Epidemiološke studije naglašavaju potrebu povećanja dijagnostičke efikasnosti kod AATD. Preporučuje se da dijagnostički pristup integriše precizne, međunarodno identifikovane, kliničke kriterijume i standardizovan laboratorijski protokol, zasnovan na biohemijskim i molekularno-biološkim metodama. Terapijski pristup zavisi od vrste kliničkih manifestacija. Kod pulmoloških bolesnika je moguće primeniti terapiju nadoknade, dok kod osoba sa terminalnom fazom oštećenja jetre uzrokovanog AATD transplantacija trenutno predstavlja jedinu specifičnu terapiju. Kod svih obolelih je neophodno preventivno uticati na smanjenje štetnog uticaja životnih navika i faktora sredine. Očekuje se da zdravstveni ishodi kod obolelih budu značajno unapređeni uvođenjem genske terapije. Dosadašnji rezultati istraživanja efikasnosti integrativnog pristupa detekciji AATD u populaciji Srbije su ohrabrujući i upućuju na potrebu njegovog omasovljenja, čime bi se ostvarili uslovi za formiranje nacionalnog registra obolelih.
AB  - The primary role of Alpha-1-antitrypsin (AAT), encoded by the highly polymorphic SERPINA1 gene, is to protect the lung parenchyma from proteolysis by neutrophil elastase. AAT deficiency (AATD) is an autosomal recessive disease, considered as the most important genetic cause of liver disease in children and emphysema in adults. According to frequency, deficient alleles can be classified as "common" (Z and S) and "rare" (Mmalton, Mheerlen, Mprocida etc). Type, intensity and onset of clinical disease associated with AATD occur as a result of interaction between AATD and additional genetic and acquired factors (tobacco smoking, air pollution exposure etc). The most frequent clinical manifestations include premature emphysema, chronic hepatitis, cirrhosis and hepatocellular carcinoma. Epidemiological studies highlight the need for improvement in diagnostic efficiency for AATD. It is recommended for a diagnostic approach to integrate precise, internationally recognized clinical criteria and a standardized laboratory protocol, based on a combination of biochemical and molecular methods. The predilection site of clinical manifestations guides the therapeutic approach. Augmentation therapy is possible in lung disease, while currently the only specific measure in patients with severe liver failure due to AATD is transplantation. In all patients, preventive measures, ammeliorating the deleterious effects of habits and environmental factors are recommended. Introduction of gene therapy is expected to additionally improve health outcomes in affected persons. Current results with an integrative AATD diagnostic strategy in the Serbian population are highly encouraging, prompting towards its further implementation in common medical practice with the ultimate goal to establish a national register of affected individuals.
PB  - Društvo medicinskih biohemičara Srbije, Beograd i Versita
T2  - Journal of Medical Biochemistry
T1  - Deficijencija alfa-1-antitripsina - molekulske osnove, kliničke manifestacije, terapijske mogućnosti i integrativni pristup u dijagnostici
T1  - Alpha-1-antitrypsin deficiency: Molecular basis, clinical presentation, therapeutic options and an integrative approach in diagnostics
EP  - 96
IS  - 1
SP  - 88
VL  - 33
DO  - 10.2478/jomb-2013-0038
ER  - 
@article{
author = "Beletić, Anđelo and Dudvarski-Ilić, Aleksandra and Milenković, Branislava and Nagorni-Obradović, Ljudmila and Ljujić, Mila and Đorđević, Valentina and Radojković, Dragica and Majkić-Singh, Nada",
year = "2014",
abstract = "Primarna uloga alfa-1-antitripsina (AAT) jeste da zaštiti plućni parenhim od proteolize dejstvom neutrofilne elastaze. Njegovu biosintezu kontroliše izuzetno polimorfni GEN SERPINA1. Deficijencija AAT (AATD) jeste autozomalno recesivno oboljenje i smatra se najčešćim genetskim uzrokom oboljenja jetre kod dece i emfizema kod odraslih. Prema učestalosti, deficijentni aleli se mogu podeliti na "česte" (Z i S) i "retke" (Mmalton, Mheerlen, Mprocida itd.). Za vrstu, intenzitet i vremenski period u kome se razvijaju kliničke manifestacije smatra se odgovornim interakcija AATD i dodatnih genetskih i stečenih faktora rizika (pušenje, izloženost aerozagađenju i sl.). Kod obolelih se najčešće javljaju preuranjen emfizem, hronični hepatitis, ciroza i hepatocelularni karcinom. Epidemiološke studije naglašavaju potrebu povećanja dijagnostičke efikasnosti kod AATD. Preporučuje se da dijagnostički pristup integriše precizne, međunarodno identifikovane, kliničke kriterijume i standardizovan laboratorijski protokol, zasnovan na biohemijskim i molekularno-biološkim metodama. Terapijski pristup zavisi od vrste kliničkih manifestacija. Kod pulmoloških bolesnika je moguće primeniti terapiju nadoknade, dok kod osoba sa terminalnom fazom oštećenja jetre uzrokovanog AATD transplantacija trenutno predstavlja jedinu specifičnu terapiju. Kod svih obolelih je neophodno preventivno uticati na smanjenje štetnog uticaja životnih navika i faktora sredine. Očekuje se da zdravstveni ishodi kod obolelih budu značajno unapređeni uvođenjem genske terapije. Dosadašnji rezultati istraživanja efikasnosti integrativnog pristupa detekciji AATD u populaciji Srbije su ohrabrujući i upućuju na potrebu njegovog omasovljenja, čime bi se ostvarili uslovi za formiranje nacionalnog registra obolelih., The primary role of Alpha-1-antitrypsin (AAT), encoded by the highly polymorphic SERPINA1 gene, is to protect the lung parenchyma from proteolysis by neutrophil elastase. AAT deficiency (AATD) is an autosomal recessive disease, considered as the most important genetic cause of liver disease in children and emphysema in adults. According to frequency, deficient alleles can be classified as "common" (Z and S) and "rare" (Mmalton, Mheerlen, Mprocida etc). Type, intensity and onset of clinical disease associated with AATD occur as a result of interaction between AATD and additional genetic and acquired factors (tobacco smoking, air pollution exposure etc). The most frequent clinical manifestations include premature emphysema, chronic hepatitis, cirrhosis and hepatocellular carcinoma. Epidemiological studies highlight the need for improvement in diagnostic efficiency for AATD. It is recommended for a diagnostic approach to integrate precise, internationally recognized clinical criteria and a standardized laboratory protocol, based on a combination of biochemical and molecular methods. The predilection site of clinical manifestations guides the therapeutic approach. Augmentation therapy is possible in lung disease, while currently the only specific measure in patients with severe liver failure due to AATD is transplantation. In all patients, preventive measures, ammeliorating the deleterious effects of habits and environmental factors are recommended. Introduction of gene therapy is expected to additionally improve health outcomes in affected persons. Current results with an integrative AATD diagnostic strategy in the Serbian population are highly encouraging, prompting towards its further implementation in common medical practice with the ultimate goal to establish a national register of affected individuals.",
publisher = "Društvo medicinskih biohemičara Srbije, Beograd i Versita",
journal = "Journal of Medical Biochemistry",
title = "Deficijencija alfa-1-antitripsina - molekulske osnove, kliničke manifestacije, terapijske mogućnosti i integrativni pristup u dijagnostici, Alpha-1-antitrypsin deficiency: Molecular basis, clinical presentation, therapeutic options and an integrative approach in diagnostics",
pages = "96-88",
number = "1",
volume = "33",
doi = "10.2478/jomb-2013-0038"
}
Beletić, A., Dudvarski-Ilić, A., Milenković, B., Nagorni-Obradović, L., Ljujić, M., Đorđević, V., Radojković, D.,& Majkić-Singh, N.. (2014). Deficijencija alfa-1-antitripsina - molekulske osnove, kliničke manifestacije, terapijske mogućnosti i integrativni pristup u dijagnostici. in Journal of Medical Biochemistry
Društvo medicinskih biohemičara Srbije, Beograd i Versita., 33(1), 88-96.
https://doi.org/10.2478/jomb-2013-0038
Beletić A, Dudvarski-Ilić A, Milenković B, Nagorni-Obradović L, Ljujić M, Đorđević V, Radojković D, Majkić-Singh N. Deficijencija alfa-1-antitripsina - molekulske osnove, kliničke manifestacije, terapijske mogućnosti i integrativni pristup u dijagnostici. in Journal of Medical Biochemistry. 2014;33(1):88-96.
doi:10.2478/jomb-2013-0038 .
Beletić, Anđelo, Dudvarski-Ilić, Aleksandra, Milenković, Branislava, Nagorni-Obradović, Ljudmila, Ljujić, Mila, Đorđević, Valentina, Radojković, Dragica, Majkić-Singh, Nada, "Deficijencija alfa-1-antitripsina - molekulske osnove, kliničke manifestacije, terapijske mogućnosti i integrativni pristup u dijagnostici" in Journal of Medical Biochemistry, 33, no. 1 (2014):88-96,
https://doi.org/10.2478/jomb-2013-0038 . .
1
2
3

Experiences in simultaneous detection of factor v leiden, factor ii g20210a, mthfr c677t and mthfr a1298c mutations in patients with thrombophilia

Beletić, Anđelo; Đorđević, Valentina; Canić, I.; Kocica, T.; Kuzmanović, I.; Golubović, M.; Mirković, D.; Radojković, Dragica; Majkic-Singh, N.

(Walter De Gruyter & Co, Berlin, 2011)

TY  - CONF
AU  - Beletić, Anđelo
AU  - Đorđević, Valentina
AU  - Canić, I.
AU  - Kocica, T.
AU  - Kuzmanović, I.
AU  - Golubović, M.
AU  - Mirković, D.
AU  - Radojković, Dragica
AU  - Majkic-Singh, N.
PY  - 2011
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/531
PB  - Walter De Gruyter & Co, Berlin
C3  - Clinical Chemistry and Laboratory Medicine
T1  - Experiences in simultaneous detection of factor v leiden, factor ii g20210a, mthfr c677t and mthfr a1298c mutations in patients with thrombophilia
EP  - S599
SP  - S599
VL  - 49
UR  - https://hdl.handle.net/21.15107/rcub_imagine_531
ER  - 
@conference{
author = "Beletić, Anđelo and Đorđević, Valentina and Canić, I. and Kocica, T. and Kuzmanović, I. and Golubović, M. and Mirković, D. and Radojković, Dragica and Majkic-Singh, N.",
year = "2011",
publisher = "Walter De Gruyter & Co, Berlin",
journal = "Clinical Chemistry and Laboratory Medicine",
title = "Experiences in simultaneous detection of factor v leiden, factor ii g20210a, mthfr c677t and mthfr a1298c mutations in patients with thrombophilia",
pages = "S599-S599",
volume = "49",
url = "https://hdl.handle.net/21.15107/rcub_imagine_531"
}
Beletić, A., Đorđević, V., Canić, I., Kocica, T., Kuzmanović, I., Golubović, M., Mirković, D., Radojković, D.,& Majkic-Singh, N.. (2011). Experiences in simultaneous detection of factor v leiden, factor ii g20210a, mthfr c677t and mthfr a1298c mutations in patients with thrombophilia. in Clinical Chemistry and Laboratory Medicine
Walter De Gruyter & Co, Berlin., 49, S599-S599.
https://hdl.handle.net/21.15107/rcub_imagine_531
Beletić A, Đorđević V, Canić I, Kocica T, Kuzmanović I, Golubović M, Mirković D, Radojković D, Majkic-Singh N. Experiences in simultaneous detection of factor v leiden, factor ii g20210a, mthfr c677t and mthfr a1298c mutations in patients with thrombophilia. in Clinical Chemistry and Laboratory Medicine. 2011;49:S599-S599.
https://hdl.handle.net/21.15107/rcub_imagine_531 .
Beletić, Anđelo, Đorđević, Valentina, Canić, I., Kocica, T., Kuzmanović, I., Golubović, M., Mirković, D., Radojković, Dragica, Majkic-Singh, N., "Experiences in simultaneous detection of factor v leiden, factor ii g20210a, mthfr c677t and mthfr a1298c mutations in patients with thrombophilia" in Clinical Chemistry and Laboratory Medicine, 49 (2011):S599-S599,
https://hdl.handle.net/21.15107/rcub_imagine_531 .

Incidenca hiperhomocisteinemije i polimorfizam MTHFR C677T kod mladih bolesnika sa akutnim infarktom miokarda

Beletić, Anđelo; Mirković, Duško; Antonijević, Nebojša; Đorđević, Valentina; Šango, Violeta; Jakovljević, Branko; Peruničić, Jovan; Ilić, Mirka; Vasiljević, Zorana; Majkić-Singh, Nada

(Društvo medicinskih biohemičara Srbije, Beograd i Versita, 2009)

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 . .
5
4
5

Izoelektrofokusiranje i PCR amplifikacija-reverzna hibridizacija u proceni nedostatka alfa-1-antitripsina

Beletić, Anđelo; Đorđević, Valentina; Dudvarski-Ilić, Aleksandra; Obradović, Ivana; Mirković, Duško; Ilić, Mirka; Radojković, Dragica; Majkić-Singh, Nada

(Društvo medicinskih biohemičara Srbije, Beograd i Versita, 2009)

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 . .
1
1
1

Conventional and novel risk factors for myocardial infarction in patients under 45 years

Antonijević, Nebojša; Beletić, Anđelo; Jakovljević, B.; Mirković, D.; Đorđević, Valentina; Radovanović, N.; Perunicić, J.; Obradović, S.; Vukosavljević, D.; Vasiljević, Z.

(Oxford Univ Press, Oxford, 2008)

TY  - CONF
AU  - Antonijević, Nebojša
AU  - Beletić, Anđelo
AU  - Jakovljević, B.
AU  - Mirković, D.
AU  - Đorđević, Valentina
AU  - Radovanović, N.
AU  - Perunicić, J.
AU  - Obradović, S.
AU  - Vukosavljević, D.
AU  - Vasiljević, Z.
PY  - 2008
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/337
PB  - Oxford Univ Press, Oxford
C3  - European Heart Journal
T1  - Conventional and novel risk factors for myocardial infarction in patients under 45 years
EP  - 689
SP  - 689
VL  - 29
UR  - https://hdl.handle.net/21.15107/rcub_imagine_337
ER  - 
@conference{
author = "Antonijević, Nebojša and Beletić, Anđelo and Jakovljević, B. and Mirković, D. and Đorđević, Valentina and Radovanović, N. and Perunicić, J. and Obradović, S. and Vukosavljević, D. and Vasiljević, Z.",
year = "2008",
publisher = "Oxford Univ Press, Oxford",
journal = "European Heart Journal",
title = "Conventional and novel risk factors for myocardial infarction in patients under 45 years",
pages = "689-689",
volume = "29",
url = "https://hdl.handle.net/21.15107/rcub_imagine_337"
}
Antonijević, N., Beletić, A., Jakovljević, B., Mirković, D., Đorđević, V., Radovanović, N., Perunicić, J., Obradović, S., Vukosavljević, D.,& Vasiljević, Z.. (2008). Conventional and novel risk factors for myocardial infarction in patients under 45 years. in European Heart Journal
Oxford Univ Press, Oxford., 29, 689-689.
https://hdl.handle.net/21.15107/rcub_imagine_337
Antonijević N, Beletić A, Jakovljević B, Mirković D, Đorđević V, Radovanović N, Perunicić J, Obradović S, Vukosavljević D, Vasiljević Z. Conventional and novel risk factors for myocardial infarction in patients under 45 years. in European Heart Journal. 2008;29:689-689.
https://hdl.handle.net/21.15107/rcub_imagine_337 .
Antonijević, Nebojša, Beletić, Anđelo, Jakovljević, B., Mirković, D., Đorđević, Valentina, Radovanović, N., Perunicić, J., Obradović, S., Vukosavljević, D., Vasiljević, Z., "Conventional and novel risk factors for myocardial infarction in patients under 45 years" in European Heart Journal, 29 (2008):689-689,
https://hdl.handle.net/21.15107/rcub_imagine_337 .
1

Incidence of hyperhomocisteinemia and methylentetrahydrofolate reductase 677 genotypes in patients with pulmonary thromboembolism

Antonijević, Nebojša; Beletić, Anđelo; Mirković, D.; Sango, V.; Novaković, I.; Đorđević, Valentina; Obradović, S.; Perunicić, J.; Jakovljević, B.; Vasiljević, Z.

(Oxford Univ Press, Oxford, 2007)

TY  - CONF
AU  - Antonijević, Nebojša
AU  - Beletić, Anđelo
AU  - Mirković, D.
AU  - Sango, V.
AU  - Novaković, I.
AU  - Đorđević, Valentina
AU  - Obradović, S.
AU  - Perunicić, J.
AU  - Jakovljević, B.
AU  - Vasiljević, Z.
PY  - 2007
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/277
PB  - Oxford Univ Press, Oxford
C3  - European Heart Journal
T1  - Incidence of hyperhomocisteinemia and methylentetrahydrofolate reductase 677 genotypes in patients with pulmonary thromboembolism
EP  - 181
SP  - 181
VL  - 28
UR  - https://hdl.handle.net/21.15107/rcub_imagine_277
ER  - 
@conference{
author = "Antonijević, Nebojša and Beletić, Anđelo and Mirković, D. and Sango, V. and Novaković, I. and Đorđević, Valentina and Obradović, S. and Perunicić, J. and Jakovljević, B. and Vasiljević, Z.",
year = "2007",
publisher = "Oxford Univ Press, Oxford",
journal = "European Heart Journal",
title = "Incidence of hyperhomocisteinemia and methylentetrahydrofolate reductase 677 genotypes in patients with pulmonary thromboembolism",
pages = "181-181",
volume = "28",
url = "https://hdl.handle.net/21.15107/rcub_imagine_277"
}
Antonijević, N., Beletić, A., Mirković, D., Sango, V., Novaković, I., Đorđević, V., Obradović, S., Perunicić, J., Jakovljević, B.,& Vasiljević, Z.. (2007). Incidence of hyperhomocisteinemia and methylentetrahydrofolate reductase 677 genotypes in patients with pulmonary thromboembolism. in European Heart Journal
Oxford Univ Press, Oxford., 28, 181-181.
https://hdl.handle.net/21.15107/rcub_imagine_277
Antonijević N, Beletić A, Mirković D, Sango V, Novaković I, Đorđević V, Obradović S, Perunicić J, Jakovljević B, Vasiljević Z. Incidence of hyperhomocisteinemia and methylentetrahydrofolate reductase 677 genotypes in patients with pulmonary thromboembolism. in European Heart Journal. 2007;28:181-181.
https://hdl.handle.net/21.15107/rcub_imagine_277 .
Antonijević, Nebojša, Beletić, Anđelo, Mirković, D., Sango, V., Novaković, I., Đorđević, Valentina, Obradović, S., Perunicić, J., Jakovljević, B., Vasiljević, Z., "Incidence of hyperhomocisteinemia and methylentetrahydrofolate reductase 677 genotypes in patients with pulmonary thromboembolism" in European Heart Journal, 28 (2007):181-181,
https://hdl.handle.net/21.15107/rcub_imagine_277 .