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340 results on '"Polenakovic M"'

1. Duplication of the SOX3 gene in an sry-negative 46,XX male with associated congenital anomalies of kidneys and the urinary tract: Case report and review of the literature

Author

Tasic V, Mitrotti A, Riepe FG, Kulle AE, Laban N, Polenakovic M, Plaseska-Karanfilska D, Sanna-Cherchi S, Kostovski M, and Gucev Z

Subjects
congenital anomalies of kidneys and the urinary tract (cakut), copy number variations (cnvs), disorders of sex development (dsd), Genetics, QH426-470
Abstract

Disorders of sex development (DSD) are a group of rare conditions characterized by discrepancy between chromosomal sex, gonads and external genitalia. Congenital abnormalities of the kidney and urinary tract are often associated with DSD, mostly in multiple malformation syndromes. We describe the case of an 11-year-old Caucasian boy, with right kidney hypoplasia and hypospadias. Genome-wide copy number variation (CNV) analysis revealed a unique duplication of about 550 kb on chromosome Xq27, and a 46,XX karyotype, consistent with a sex reversal phenotype. This region includes multiple genes, and, among these, SOX3 emerged as the main phenotypic driver. This is the fifth case reporting a genomic imbalance involving the SOX3 gene in a 46,XX SRY-negative male, and the first with associated renal malformations. Our data provide plausible links between SOX3 gene dosage and kidney malformations. It is noteworthy that the current and reported SOX3 gene duplications are below the detection threshold of standard karyotypes and were found only by analyzing CNVs using DNA microarrays. Therefore, all 46,XX SRY-negative males should be screened for SOX3 gene duplications with DNA microarrays.

Published
2019
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2. Study of the Hepatitis C Virus in the Republic of Macedonia

Author

Plaseska-Karanfilska Dijana, Kiprijanovska S, Sukarova-Stefanovska E, Noveski P, Polenakovic M, and Chalovska V

Subjects
hepatitis c virus (hcv) genotyping, intravenous (iv) drug users, hcv therapy, oligoadenylate synthetase (oasl) like interferon stimulated gene, Genetics, QH426-470
Abstract

Hepatitis C virus (HCV) is a major public health problem. It is a leading cause of chronic liver disease and the most common indication for liver transplantation. The therapy for eradication of HCV infection is successful in only 50.0-80.0% of patients and is highly dependent on the HCV genotype. Molecular detection and characterization of HCV in the Republic of Macedonia started in 1990. Since then, more than 4000 samples have been analyzed at the Research Centre for Genetic Engineering and Biotechnology (RCGEB) “Georgi D. Efremov,” Skopje, Republic of Macedonia. The prevalence of HCV infections in the healthy population of the Republic of Macedonia was found to be 0.4%, while it varies between 23.0 and 43.0% in different at-risk groups of patients. The prevalence of HCV genotypes, according to associated risk factors in HCV infected patients from the Republic of Macedonia, was analyzed. We found genotype 1 to be predominant in a group of hemodialysis patients, while genotype 3 was predominant in intravenous (IV) drug users. Association of six polymorphisms in the Oligoadenylate synthetase (OASL)-like interferonstimulated gene with a sustained virological response was also analyzed. Our preliminary results suggest that non ancestral alleles in four of the six studies polymorphisms in OASL gene are associated with sustained virological response among HCV infected patients in R. Macedonia.

Published
2012
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22. Urinary peptide biomarker panel associated with an improvement in estimated glomerular filtration rate in chronic kidney disease patients

Author

Markoska, K, Pejchinovski, M, Pontillo, C, Zurbig, P, Jacobs, L, Smith, A, Masin-Spasovska, J, Stojceva-Taneva, O, Polenakovic, M, Magni, F, Mischak, H, Spasovski, G, Markoska, K, Pejchinovski, M, Pontillo, C, Zurbig, P, Jacobs, L, Smith, A, Masin-Spasovska, J, Stojceva-Taneva, O, Polenakovic, M, Magni, F, Mischak, H, and Spasovski, G

Abstract

Background. An improvement in the glomerular filtration rate (GFR) of chronic kidney disease patients has been an underestimated clinical outcome. Although this may be considered as an unexpected disease course, it may provide some insights into possible mechanisms underlying disease remission and/or regression. Therefore, our aim was to identify urinary peptide biomarkers associated with an improvement in estimated GFR (eGFR) over time and to improve patient stratification. Methods. Capillary electrophoresis coupled with mass spectrometry (CE-MS) was employed to evaluate the urine peptidome of patients with different types of renal diseases. In total, 376 patients with a slope/year between 1.5% and 1.5% were designated as non-progressors or stable, while 177 patients with a>5% slope/ year were designated as patients with an improved eGFR for state-of-art biomarker discovery and validation. Results. We detected 384 significant peptide fragments by comparing the CE-MS data of the stable patients and those with improved renal function in our development cohort. Of these 384, a set of 141 peptides with available amino acid sequence information were used to generate a support vector machinebased classification panel. The biomarker panel was applied to our validation cohort, achieving a moderate area under the curve (AUC) value of 0.85 (81% sensitivity and 81% specificity). The majority of the peptides (78%) from the diagnostic panel arose fromdifferent types of collagen. Conclusions. We have developed a panel of urinary peptide markers able to discriminate those patients predisposed to improve their kidney function over time and possibly be treated with more specific or less aggressive therapy

Published
2018

23. Duplication of the SOX3gene in an sry-negative 46,XX male with associated congenital anomalies of kidneys and the urinary tract: Case report and review of the literature

Author

Tasic, V, Mitrotti, A, Riepe, FG, Kulle, AE, Laban, N, Polenakovic, M, Plaseska-Karanfilska, D, Sanna-Cherchi, S, Kostovski, M, and Gucev, Z

Abstract

Disorders of sex development (DSD) are a group of rare conditions characterized by discrepancy between chromosomal sex, gonads and external genitalia. Congenital abnormalities of the kidney and urinary tract are often associated with DSD, mostly in multiple malformation syndromes. We describe the case of an 11-year-old Caucasian boy, with right kidney hypoplasia and hypospadias. Genome-wide copy number variation (CNV) analysis revealed a unique duplication of about 550 kb on chromosome Xq27, and a 46,XX karyotype, consistent with a sex reversal phenotype. This region includes multiple genes, and, among these, SOX3emerged as the main phenotypic driver. This is the fifth case reporting a genomic imbalance involving the SOX3gene in a 46,XX SRY-negative male, and the first with associated renal malformations. Our data provide plausible links between SOX3gene dosage and kidney malformations. It is noteworthy that the current and reported SOX3gene duplications are below the detection threshold of standard karyotypes and were found only by analyzing CNVs using DNA microarrays. Therefore, all 46,XX SRY-negative males should be screened for SOX3gene duplications with DNA microarrays.

Published
2019
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24. Genetic, Genomic and Epigenomic Studies of Balkan Endemic Nephropathy (Ben)

Author

Staneva, Rada G., primary, Balabanski, L., additional, Dimova, I., additional, Rukova, B., additional, Hadjidekova, S., additional, Dimitrov, P., additional, Simeonov, V., additional, Ivanov, S., additional, Vagarova, R., additional, Malinov, M., additional, Cukuranovic, R., additional, Stefanovic, V., additional, Polenakovic, M., additional, Djonov, V., additional, Galabov, A., additional, and Toncheva, D., additional

Published
2015
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25. 2nd combined working group and management committee meeting of urine and kidney proteomics COST action 29-30 March 2009, Nafplio, Greece

Author

Vlahou, Antonia, Allmaier, G., Attwood, T., Bongcam-Rudloff, E., Charonis, Aristidis S., Frokiaer, J., Mischak, H., Schanstra, J., Spasovski, G., Aasberg, A., Allory, Y., Arthur, J., Banks, R., Baumann, M., Benigni, A., Bezerianos, Anastasios, Campistol, J. M., Candiano, G., Capasso, G., Carpentier, S., Dadlez, M., Constantinou-Deltas, Constantinos D., Dijilianov, D., De Zeeuw, D., Decramer, S., Dihazi, H., Domon, B., Endlich, N., d'Alche-Buc, F., D'Haese, P., Edelman, A., Egido, J., El Nahas, M., Farinazzo, A., Fernandez-Llama, P., Feldt-Rasmussen, B., Gansevoort, R., Garbis, S., Garin, J., Ghiggeri, G. M., Gimenez, I., Granier, C., Goumenos, Dimitrios S., Haylor, J. L., Hilario, M., Holthofer, H., Kalousis, Alexandros, Kaski, S., Knepper, M., Korneti, P., Kossida, Sophia A., Langham, R., Loftheim, H., Lopez-Novoa, J., Luider, T., Magni, F., Malats, N., Martin, J. L., Mayrhofer, C., Monsarrat, B., Mueller, G., Nielsen, S., Norling, M., O'Connell, S., Ortiz, A., Perunicic-Pekovic, G., Planelles, G., Polenakovic, M., Promponas, Vasilis J., Rasic-Milutinovic, Z., Rehulka, P., Peter, K., Righetti, P. G., Ronco, P., Ryan, M., Sánchez-Carbayo, M., Semmes, J., Sheehan, D., Stenman, U. -H, Stodkilde-Jorgensen, L., Tasic, V., Theodorescu, D., Thongboonkerd, V., Toncheva, D., Tsillibari, E., Tsiotis, Georgios, Unwin, R., Vanholder, R., Vassilev, D., Vickers, M. E., Verhulst, A., Vilasi, Annalisa, Vlahakos, D., Vonk, R., Wright, P. C., Yamamoto, Tadashi, Yutaka, Y., Zielenkiewicz, P., Promponas, Vasilis J. [0000-0003-3352-4831], and Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169]

Subjects
tumor necrosis factor related apoptosis inducing ligand, medicine.medical_specialty, hypertension, microalbuminuria, urinalysis, heat shock protein 27, laser capture microdissection, Clinical Biochemistry, prevalence, capillary electrophoresis, Clinical proteomics, Urine, Proteomics, Bioinformatics, medical research, disease marker, proteomics, Medicine, Medical physics, Cost action, human, Biomarker discovery, conference paper, mass spectrometry, Kidney diseases, business.industry, lymphocyte antigen, Ontology, practice guideline, bioinformatics, chronic kidney failure, tumor necrosis factor like weak inducer of apoptosis, Laser capture, biological marker, molecular imaging, time of flight mass spectrometry, unclassified drug, Important research, priority journal, Tissue proteomics, Urine specimen, Imaging MS, atherosclerosis, business, Working group, CD74 antigen, monocyte chemotactic protein 1, chronic kidney disease
Abstract

EuroKUP (Urine and Kidney Proteomics www.eurokup.org) is a COST (European Cooperation in the field of Scientific and Technical research: www.cost.esf.org Action fostering amulti-disciplinary network of investigators from 25 countries and focusing on facilitating translational proteomic research in kidney diseases. Four Working Groups focusing respectively on defining clinically important research questions in kidney diseases, kidney tissue proteomics, urine proteomics and bioinformatics have been generated. The EuroKUP members had their second combined Working Group and Management Committee (MC) meeting in Nafplio, Greece from March 29 to 30, 2009. This report summarizes the main presentations, discussions and agreed action points during this meeting. These refer to the design of collaborative projects and clinical center networks for specific kidney diseases establishment of guidelines for kidney tissue proteomics analysis by laser-based imaging- and laser capture microdissection-MS development and characterization of a "standard" urine specimen to be used for assessment of platform capability and data comparability in clinical proteomics applications definition of statistical requirements in biomarker discovery studies and development of a specialized kidney and urine ontology. Various training activities are planned involving training schools on laser capture microdissection- and imaging-MS, workshops on ontologies as well as short-term travel grants for junior investigators. © 2009 Wiley-VCH Verlag GmbH & Co. KGaA, Weinheim. 3 1017 1022 Cited By :8

Published
2009
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26. Inflammation and anaemia as predictors of cardiovascular mortality in hemodialysis patients

Author

Selim, G, Stojceva-Taneva, O, Ivanovski, N, Zafirovska, K, Sikole, A, Trajcevska, L, Asani, A, and Polenakovic, M

Subjects
Original Article
Abstract

Cardiovascular diseases are the most common causes of death among hemodialysis (HD) patients, yet the risk factors for these events have not been well established. Our study objective was to determine predictors of cardiovascular mortality, considering the non-traditional/disease-related and treatment-related/ cardiovascular risk factor in HD patients.Disease-related cardiovascular risk factors, such as anaemia, calcium-phosphate disorders, nutrition-inflammation and treatment/dialysis-related cardiovascular risk factors such as HD dose, using the index Kt/V were analyzed in 214 patients on HD. Mortality was monitored prospectively over a two year period.Fifty-three of the 214 HD patients died during the follow-up period and the main cause of death was cardiovascular events (56.6%), followed by infection/sepsis (26.4%). The patients who died were significantly older than those alive, had significantly lower serum levels of hemoglobin (Hb), albumin and Kt/V. Serum levels of calcium, C-reactive protein (CRP) and fibrinogen were significantly higher in patients who died during the follow-up period. Kaplan-Meier analysis showed that the all cause and cardiovascular mortality was considerably higher in patients with Hb110 g/l, albumin40 g/l, CRP8 mg/l and spKt/V1.2 (log rank, p=0.000/p=0.000, p=0.000/ p=0.001, p=0.000/p=0.000, p=0.000/p=0.000), respectively. No difference in cardiovascular mortality was observed between the fibrinogen4 g/llevels. High CRP, low Hb levels and low spKt/V were significant predictors of all-cause mortality, but low albumin and high fibrinogen levels were not in the Cox proportional hazards analysis. When only cardiovascular mortality was entered into the Cox model, high CRP and low Hb levels were the only significant predictors for mortality.It can be concluded that, inflammation (elevated CRP) and anaemia (decreased Hb), were identified as significant independent non-traditional, disease-related cardiovascular risk factors that predict cardiovascular mortality in HD patients.

Published
2007

27. CKD LAB METHODS, PROGRESSION & RISK FACTORS 1

Author

Heisterkamp, M., primary, Titze, S., additional, Lorenzen, J., additional, Eckardt, K.-U., additional, Koettgen, A., additional, Kielstein, J. T., additional, Bouquegneau, A., additional, Vidal-Petiot, E., additional, Vrtovsnik, F., additional, Cavalier, E., additional, Krzesinski, J. M., additional, Flamant, M., additional, Delanaye, P., additional, Anguiano, L., additional, Riera, M., additional, Pascual, J., additional, Barrios, C., additional, Betriu, A., additional, Valdivielso, J. M., additional, Fernandez, E., additional, Soler, M. J., additional, Denys, M.-A., additional, Viaene, A., additional, Goessaert, A.-S., additional, Delanghe, J., additional, Everaert, K., additional, Kim, Y. S., additional, Choi, M. J., additional, Deok, J. Y., additional, Kim, S. G., additional, Bevc, S., additional, Hojs, N., additional, Hojs, R., additional, Ekart, R., additional, Gorenjak, M., additional, Puklavec, L., additional, Piskunowicz, M., additional, Hofmann, L., additional, Zurcher, E., additional, Bassi, I., additional, Zweiacker, C., additional, Stuber, M., additional, Narkiewicz, K., additional, Vogt, B., additional, Burnier, M., additional, Pruijm, M., additional, Rusu, E., additional, Zilisteanu, D., additional, Atasie, T., additional, Circiumaru, A., additional, Carstea, F., additional, Ecobici, M., additional, Rosca, M., additional, Tanase, C., additional, Mihai, S., additional, Voiculescu, M., additional, Jeon, Y. D., additional, Polenakovic, M., additional, Pop-Jordanova, N., additional, Hung, S.-C., additional, Tarng, D.-C., additional, Tuta, L., additional, Stanigut, A., additional, Mesiano, P., additional, Rollino, C., additional, Ferro, M., additional, Beltrame, G., additional, Massara, C., additional, Quattrocchio, G., additional, Borca, M., additional, Bazzan, M., additional, Roccatello, D., additional, Maksudova, A., additional, Urasaeva, L. I., additional, Khalfina, T. N., additional, Tekce, H., additional, Kin Tekce, B., additional, Aktas, G., additional, Alcelik, A., additional, Sengul, E., additional, Lindic, J., additional, Purg, D., additional, Skamen, J., additional, Krsnik, M., additional, Skoberne, A., additional, Pajek, J., additional, Kveder, R., additional, Bren, A., additional, Kovac, D., additional, Delgado, G., additional, Drechsler, C., additional, Wanner, C., additional, Blouin, K., additional, Pilz, S., additional, Tomaschitz, A., additional, Kleber, M. E., additional, Willmes, C., additional, Krane, V., additional, Marz, W., additional, Ritz, E., additional, Van Gilst, W. H., additional, Van Der Harst, P., additional, De Boer, R. A., additional, Scholze, A., additional, Petersen, L., additional, Hocher, B., additional, Rasmussen, L. M., additional, Tepel, M., additional, De Paula, E. A., additional, Vanelli, C. P., additional, Caminhas, M. S., additional, Soares, B. C., additional, Bassoli, F. A., additional, Da Costa, D. M. N., additional, Lanna, C. M. M., additional, Galil, A. G. S., additional, Colugnati, F. A. B., additional, Costa, M. B., additional, Bastos, M. G., additional, De Paula, R. B., additional, Santoro, D., additional, Zappulla, Z., additional, Alibrandi, A., additional, Tomasello Andulajevic, M., additional, Licari, M., additional, Baldari, S., additional, Buemi, M., additional, Cernaro, V., additional, Campenni, A., additional, Pallet, N., additional, Chauvet, S., additional, Levi, C., additional, Meas-Yedid, V., additional, Beaune, P., additional, Thevet, E., additional, Karras, A., additional, Santos, S., additional, Malheiro, J., additional, Campos, A., additional, Pedroso, S., additional, Santos, J., additional, Cabrita, A., additional, Mayor, M. M., additional, Ayala, R., additional, Ramos, C., additional, Franco, S., additional, Guillen, R., additional, Kim, J. S., additional, Yang, J. W., additional, Han, B. G., additional, Choi, S. O., additional, Tudor, M.-N., additional, Navajas Martinez, M. F., additional, Vaduva, C., additional, Maria, D. T., additional, Mota, E., additional, Clari, R., additional, Mongilardi, E., additional, Vigotti, F. N., additional, Consiglio, V., additional, Scognamiglio, S., additional, Nazha, M., additional, Roggero, S., additional, Piga, A., additional, Piccoli, G., additional, Mukhopadhyay, P., additional, Patar, K., additional, Chaterjee, N., additional, and Ganguly, K., additional

Published
2014
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29. NGS NominatedCELA1,HSPG2, andKCNK5as Candidate Genes for Predisposition to Balkan Endemic Nephropathy

Author

Toncheva, D., primary, Mihailova-Hristova, M., additional, Vazharova, R., additional, Staneva, R., additional, Karachanak, S., additional, Dimitrov, P., additional, Simeonov, V., additional, Ivanov, S., additional, Balabanski, L., additional, Serbezov, D., additional, Malinov, M., additional, Stefanovic, V., additional, Čukuranović, R., additional, Polenakovic, M., additional, Jankovic-Velickovic, L., additional, Djordjevic, V., additional, Jevtovic-Stoimenov, T., additional, Plaseska-Karanfilska, D., additional, Galabov, A., additional, Djonov, V., additional, and Dimova, I., additional

Published
2014
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31. Ubiquity of Hantaan virus infection with renal syndrome

Author

Grcevska L and Polenakovic M

Subjects
Adult, Male, Transplantation, business.industry, Biopsy, Enzyme-Linked Immunosorbent Assay, Antibodies, Viral, Prognosis, Virology, Republic of North Macedonia, Hantaan virus, Nephrology, Hemorrhagic Fever with Renal Syndrome, Immunology, Medicine, Humans, Female, business, Fluorescent Antibody Technique, Indirect
Published
1996

34. 245

Author

Zepceska, Z., primary, Dzikova, S., additional, Grcevska, L., additional, Kostadinova, D., additional, and Polenakovic, M., additional

Published
2007
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49. Evolution of renal replacement therapy in Central and Eastern Europe 7 years after political and economical liberation

Author

Rutkowski, B., primary, Ciocalteu, A., additional, Djukanovic, L., additional, Kiss, I., additional, Kovac, A., additional, Krivoshiev, S., additional, Kveder, R., additional, Polenakovic, M., additional, Puretic, Z., additional, Stanaityte, M., additional, Tareyeva, I., additional, Teplan, V., additional, Europe Advisory Board in Chronic Renal, E., additional, and Zaitz, J., additional

Published
1998
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