Kochova, Mirjana

Preferred name

Kochova, Mirjana

Official Name

Kochova, Mirjana

Translated Name

Мирјана Кочова

Alternative Name

Kocova Mirjana

Kocova M

M Kocova

Mirjana Kochova

Мирјана Кочова

Main Affiliation

mirjana.kochova@medf.ukim.edu.mk

mirjanakocova@yahoo.com

Now showing 1 - 10 of 140

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Detection of Y chromosome sequences in a 45,X/46,XXq--patient by Southern blot analysis of PCR-amplified DNA and fluorescent in situ hybridization (FISH)
(Wiley‐Liss, Inc., A Wiley Company, 1995-02-13)
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Siegel, S F
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Wenger, S L
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Lee, P A
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Nalesnik, M
In some cases of gonadal dysgenesis, cytogenetic analysis seems to be discordant with the phenotype of the patients. We have applied techniques such as Southern blot analysis and fluorescent in situ hybridization (FISH) to resolve the phenotype/genotype discrepancy in a patient with ambiguous genitalia in whom the peripheral blood karyotype was 45,X. Gonadectomy at age 7 months showed the gonadal tissue to be prepubertal testis on the left side and a streak gonad on the right. The karyotype obtained from the left gonad was 45,X/46,XXq- and that from the right gonad was 45,X. Three different techniques, PCR amplification, FISH, and chromosome painting for X and Y chromosomes, confirmed the presence of Y chromosome sequences. Five different tissues were evaluated. The highest percentage of Y chromosome positive cells were detected in the left gonad, followed by the peripheral blood lymphocytes, skin fibroblasts, and buccal mucosa. No Y chromosomal material could be identified in the right gonad. Since the Xq- chromosome is present in the left gonad (testis), it is likely that the Xq- contains Y chromosomal material. Sophisticated analysis in this patient showed that she has at least 2 cell lines, one of which contains Y chromosomal material. These techniques elucidated the molecular basis of the genital ambiguity for this patient. When Y chromosome sequences are present in patients with Ullrich-Turner syndrome or gonadal dysgenesis, the risk for gonadal malignancy is significantly increased. Hence, molecular diagnostic methods to ascertain for the presence of Y chromosome sequences may expedite the evaluation of patients with ambiguous genitalia.
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Efficacy and safety of a fixed combination of insulin degludec/insulin aspart in children and adolescents with type 1 diabetes: A randomized trial
(Wiley Online Library, 2018)
Battelino, Tadej
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Deeb, Larry C
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Ekelund, Magnus
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Kinduryte, Ona
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Klingensmith, Georgeanna J
Insulin degludec/insulin aspart (IDegAsp) is a fixed soluble co-formulation of basal and bolus insulin.
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Regional Variation in the Incidence of Congenital Hypothyroidism in Macedonia
(MDPI, 2017-08-21)
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Milica Pesevska
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Elizabeta Taseva
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The incidence of congenital hypothyroidism (CH) is increasing in different areas around the world. Potential causes include changes in population ethnic composition, environmental factors, changing screening program methodology and lowering of TSH cutoff levels. The incidence of CH in different regions of Macedonia has not been evaluated before. A total of 251,008 newborns from all eight regions in the country have been screened between 2002 and 2015, by measurement of the thyroid-stimulating hormone (TSH) from blood spots, sampled 48-72 h after birth, using the DELFIA assay. Overall CH incidence confirmed at birth was 1/1976. The highest CH incidence was observed in the Vardar region (1/970), while the Eastern region had the lowest incidence (1/4202; p=0.021). In the other regions, the following CH incidence was detected: Northeastern 1/1459, Pelagonia 1/1627, Polog 1/1444, Skopje 1/2430, Southwestern 1/3226, and Southeastern 1/1843. Interestingly, in the Vardar region, 4.44% of the screened newborns had a TSH concentration > 5 mIU/L, as an indicator of regional iodine deficiency, compared to the Eastern region where 1.66% of newborns had a TSH > 5 mIU/L. The higher CH incidence in some of the regions may be due to increasing exposure to environmental toxic agents and/or deficient iodine intake. Further research into the potential environmental determinants of increased CH risk is warranted.
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Genotype-phenotype correlation in CAH patients with severe CYP21A2 point mutations in the Republic of Macedonia
(Walter de Gruyter GmbH, 2010-09)
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Steroid 21-hydroxylase deficiency is a most frequent cause of congenital adrenal hyperplasia (CAH), due to mutations in the CYP21A2 gene. Approximately 75% of patients with classical form of CAH have severe impairment of 21-hydroxylase activity.
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Impact of Lower Screening TSH Cutoff Level on the Increasing Prevalence of Congenital Hypothyroidism
(MDPI AG, 2017-04-04)
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Remission phase of type 1 diabetes in children in the Republic of Macedonia
(Elsevier BV, 2000-09)
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The many faces of oral-facial-digital syndrome
(Walter de Gruyter GmbH, 2012-06)
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N Angelkova
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S Palcevska-Kocevska
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The oral-facial-digital (OFD) syndrome is a heterogeneous group of abnormalities that share anomalies of the oral cavity, face and digits of hands and feet. On the basis of other anomalies of brain, kidneys, limbs, eyes and other organs, at least 13 subgroups have been described. We here describe four unrelated patients with this syndrome, who have the typical facial, oral and digital anomalies and also anomalies of other organs and systems. Facial features, digital malformations, as well as the existence of additional malformations all of which can be classified into different subgroups. The report points out the difficulty in delineation of the subtypes of OFD syndrome because of the overlapping features between OFD subgroups.
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Centromere of Y chromosome in Turner's syndrome
(Elsevier BV, 1994-04-09)
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Trucco, M
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Chimerism after liver transplantation for type IV glycogen storage disease and type 1 Gaucher's disease
(Massachusetts Medical Society, 1993-03-18)
Starzl, T E
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Demetris, A J
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Trucco, M
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Ricordi, C
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Ildstad, S
Liver transplantation for type IV glycogen storage disease (branching-enzyme deficiency) results in the resorption of extrahepatic deposits of amylopectin, but the mechanism of resorption is not known.
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ACUTE MYELOBLASTIC LEUKEMIA IN CHILDREN, TREATMENT AND PROGNOSIS 125
(Springer Science and Business Media LLC, 1997-05)
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Zisovski, N
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Glamocanin, S
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Kochova, Mirjana

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