Faculty of Medicine
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Item type:Publication, Comparative proteomics analysis of human FFPE testicular tissues reveals new candidate biomarkers for distinction among azoospermia types and subtypes(Elsevier, 2022) - Some of the metrics are blocked by yourconsent settings
Item type:Publication, A patient with partial androgen insensitivity syndrome(PAIS) due to a mosaic de novo prmoter mutation ( C.-547>T) in the androgen receptor (AR) gene(2022-10); ; ; Predrag Noveski - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Noninvasive Antenatal Diagnosis of Fetal RhD Status(2018-10-25); Dijana Plaseska-KaranfilskaIntroduction: Fetal cell-free nucleic acids within the blood stream of a pregnant woman come from fetal genetic material which can be acquired by simple venipuncture that reduces any risk to a minimum. Fetal cell-free DNA can be detected in the mother's blood stream in the 5th gestation week at the earliest. That enables fetal genotyping at the earliest possible stage of pregnancy which is best done in the 12th gestation week. Aim: To determine fetal RhD status at RhD negative pregnant women where the father is a heterozygote, Dd. Materials and Methods: The research includes 1540 RhD negative pregnant women, out of which at 30 of them the RhD fetal status had been detected by a PCR technique from the mother’s plasma. The RhD fetal status was confirmed after delivery by serologic analysis at 27 newborn babies. All research patients were submitted to serologic immunohematology testing: blood group typing of red blood cell antigens, screening of irregular anti-red blood cell antibodies. Fetal RhD status was determined by the plasma of RhD negative pregnant women using the real-time PCR technology in the period from the 12th gestation week until the 31 gestation week. The biological fathers of all 30 fetuses were phenotyped as heterozygote to the RhD antigen. The results showed that 30% of the fetuses are RhD negative, and 70% are RhD positive. Conclusion: The noninvasive fetal RhD genotyping is not only one precious tool in the management of RhD alloimmunised pregnancies, but it also allows antenatal anti-D immunoglobulin prophylaxis exclusiveness for only non-immunized RhD pregnant women carrying RhD positive fetus. Taking into consideration that 30% of the RhD negative pregnant women that carry a RhD negative fetus receive antenatal RhIG prophylaxis with no absolute need for it. At RhD alloimmunised pregnant women the noninvasive genotyping of the fetal blood group enables an easy and safe method in determination of a fetal risk from a hemolytic disease, and at the same time evading a vast laboratory and clinical monitoring of RhD antigen-negative fetal cases. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Moleculary Confirmed, Cytogenetic Remission in a Case with Myelodysplastic Syndrome Treated with Azacitidne(Macedonian Academy of Sciences and Arts / De Gruyter, 2018-04-16); ; ; Marija Popova-LabaceskaMyelodysplastic syndrome (MDS) is a diverse group of clonal hematologic neoplasms. The only curative treatment for MDS is allogeneic stem cell transplantation (SCT). Epigenetic changes play an important role in the pathogenesis of MDS and treatment with DNA methyl transferase inhibitors, Azacitidine, significantly prolong the survival of high-risk MDS patients. Here we report a case of a 58-year-old male presented with pancytopenia, macrocytosis, and hyperplastic bone marrow with 3-lineage dysplasia with ~14% of myeloid blasts. Cytogenetic studies with G banding showed normal karyotype. Multiplex ligation-dependent probe amplification (MLPA) screening for most predictive cytogenetic abnormalities of MDS showed loss of the Y chromosome. Those findings later were confirmed with Quantitative Fluorescent (QF)-PCR and specific MLPA for Y chromosome, showing loss of the Y chromosome in >80% of cells. He was diagnosed with MDS-RAEB2 according to 2008 WHO classification and stratified into high risk group (IPSS score 5). Unrelated allogeneic SCT was planed and bridging treatment with Azacitidine at a dose of 75mg/m2/daily subcutaneously for 7 days every 28 days was initiated. Hematologic improvements, according to the International Working Group 2006 criteria, were observed after 4 cycles of Azacitidine treatment. After 6 cycles, complete hematological remission was achieved. Interestingly, molecular analysis performed after the 8th cycle showed normal presence of Y chromosome indicating a cytogenetic remission, molecularly confirmed. Maintenance treatment with Azacitidine was assigned, and the scheduled SCT was postponed. Experience from our case showed that the loss of the Y chromosome was related to the disease onset, and indicated that Azacitidine might be consider as effective treatment for MDS cases associated with good cytogenetic.