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  1. Article ; Online: Peripheral Insulin Edema and Pericardial Effusion in a 12-Year-Old Newly Diagnosed Girl with Type 1 Diabetes.

    Janchevska, Aleksandra / Jovanovska, Valentina / Jordanova, Olivera / Beqiri-Jashari, Ardiana / Krstevska-Konstantinova, Marina / Tasic, Velibor / Gucev, Zoran S

    Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)

    2023  Volume 44, Issue 2, Page(s) 171–174

    Abstract: ... ...

    Abstract Introduction
    MeSH term(s) Female ; Adolescent ; Humans ; Child ; Insulin/adverse effects ; Diabetes Mellitus, Type 1/chemically induced ; Diabetes Mellitus, Type 1/complications ; Diabetes Mellitus, Type 1/drug therapy ; Pericardial Effusion/chemically induced ; Pericardial Effusion/diagnostic imaging ; Edema/chemically induced ; Edema/diagnosis ; Weight Gain
    Chemical Substances Insulin
    Language English
    Publishing date 2023-07-15
    Publishing country North Macedonia
    Document type Case Reports ; Journal Article
    ZDB-ID 2743787-5
    ISSN 1857-8985 ; 1857-9345
    ISSN (online) 1857-8985
    ISSN 1857-9345
    DOI 10.2478/prilozi-2023-0037
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  2. Article ; Online: Posterior Urethral Valve and Prenataly Resolved Multicystic Dysplastic Kidney.

    Aluloska, Natasha / Palchevska, Snezana / Simeonov, Risto / Gucev, Zoran / Tasic, Velibor

    Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)

    2021  Volume 42, Issue 1, Page(s) 77–81

    Abstract: Multicystic dysplastic kidney is a rare congenital anomaly of the kidney and urinary tract. The association with the posterior urethral valve is also very rare. Here we present a patient with both entities and prenatal resolution of the cysts.A 10-week ... ...

    Abstract Multicystic dysplastic kidney is a rare congenital anomaly of the kidney and urinary tract. The association with the posterior urethral valve is also very rare. Here we present a patient with both entities and prenatal resolution of the cysts.A 10-week old baby was referred for nephrourological work up due to prenatal diagnosis of the left multicystic kidney. He had serial US scans during the pregnancy. Immediately before delivery the cysts were not seen (prenatal resolution). There were no extrarenal anomalies. The first postnatal ultrasound scan revealed normal sized right kidney without dilatation of the pelvicalyceal system. The bladder had normal thickness of the wall. Technetium-99m dimercaptosuccinic acid scan showed no activity on the left side, and the right kidney appeared normal. At two months of age, a poor urinary steam was observed and additional urologic work up was indicated on clinical suspicion of PUV. Voiding urethrocystography revealed posterior urethral valve and the baby underwent cytoscopic valve resection.Conclusion: We present a rare association of two congenital anomalies of the kidney and urinary tract with prenatal involution of the multicystic dysplastic kidney that is extremely rare event as seen in our case. Presence of posterior urethral valve must be suspected in a male baby with a poor urinary stream even when his ultrasound scan of urinary system appears normal.
    MeSH term(s) Female ; Humans ; Infant ; Kidney/diagnostic imaging ; Kidney/surgery ; Male ; Multicystic Dysplastic Kidney/diagnostic imaging ; Multicystic Dysplastic Kidney/surgery ; Pregnancy ; Prenatal Diagnosis ; Ultrasonography
    Language English
    Publishing date 2021-04-23
    Publishing country North Macedonia
    Document type Case Reports ; Journal Article
    ZDB-ID 2743787-5
    ISSN 1857-8985 ; 1857-9345
    ISSN (online) 1857-8985
    ISSN 1857-9345
    DOI 10.2478/prilozi-2021-0006
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  3. Article ; Online: Idursulfatase therapy in mucopolysaccharidosis type II: after 2.5 years of treatment--no benefit for older patients with multisystem involvement.

    Gucev, Zoran S / Tasic, Velibor

    Pediatric neurology

    2012  Volume 46, Issue 3, Page(s) 199–200; author reply 200

    MeSH term(s) Enzyme Replacement Therapy ; Humans ; Iduronate Sulfatase/therapeutic use ; Male ; Mucopolysaccharidosis II/drug therapy
    Chemical Substances Iduronate Sulfatase (EC 3.1.6.13)
    Language English
    Publishing date 2012-03
    Publishing country United States
    Document type Comment ; Letter
    ZDB-ID 639164-3
    ISSN 1873-5150 ; 0887-8994
    ISSN (online) 1873-5150
    ISSN 0887-8994
    DOI 10.1016/j.pediatrneurol.2012.01.006
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  4. Article ; Online: Tissue-specific mosaicism in a patient with Rubinstein-Taybi syndrome and CREBBP exon 1 duplication.

    Gucev, Zoran S / Tasic, Velibor B / Saveski, Aleksandar / Polenakovic, Momir H / Laban, Nevenka B / Zechner, Ulrich / Bartsch, Oliver

    Clinical dysmorphology

    2019  Volume 28, Issue 3, Page(s) 142–144

    MeSH term(s) CREB-Binding Protein/genetics ; Child ; E1A-Associated p300 Protein/genetics ; Exons/genetics ; Facies ; Female ; Gene Duplication/genetics ; Humans ; Mosaicism ; Organ Specificity/genetics ; Rubinstein-Taybi Syndrome/genetics
    Chemical Substances CREB-Binding Protein (EC 2.3.1.48) ; CREBBP protein, human (EC 2.3.1.48) ; E1A-Associated p300 Protein (EC 2.3.1.48) ; EP300 protein, human (EC 2.3.1.48)
    Language English
    Publishing date 2019-03-28
    Publishing country England
    Document type Journal Article
    ZDB-ID 1121482-x
    ISSN 1473-5717 ; 0962-8827
    ISSN (online) 1473-5717
    ISSN 0962-8827
    DOI 10.1097/MCD.0000000000000268
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    Zs.A 3528: Show issues Location:
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  5. Article ; Online: Severe digital malformations in a rare variant of fibrodysplasia ossificans progressiva.

    Gucev, Zoran / Tasic, Velibor / Plaseska-Karanfilska, Dijana / Dimishkovska, Marija / Laban, Nevenka / Bozinovski, Zoran / Kostovski, Marko / Saveski, Alek / Polenakovic, Momir / Towler, O Will / Shore, Eileen M / Kaplan, Frederick S

    American journal of medical genetics. Part A

    2019  Volume 179, Issue 7, Page(s) 1310–1314

    Abstract: A 16-year-old girl with a history of nontraumatic swelling of both forearms, osteochondromas of the knees, heterotopic ossification of the neck and back, severe malformations of all digits with hypoplastic or absent nails, alopecia partialis of the scalp, ...

    Abstract A 16-year-old girl with a history of nontraumatic swelling of both forearms, osteochondromas of the knees, heterotopic ossification of the neck and back, severe malformations of all digits with hypoplastic or absent nails, alopecia partialis of the scalp, and moderate cognitive impairment was seen for diagnostic evaluation. Whole exome sequencing identified an activating mutation of ACVR1 (c.983G > A; p.Gly328Glu) which confirmed a suspected FOP variant. The delayed diagnosis of an FOP variant in this patient could have been avoided if the significance of severe digital malformations had been recognized, especially in the setting of progressive heterotopic ossification.
    MeSH term(s) Activin Receptors, Type I/genetics ; Adolescent ; Female ; Fingers/abnormalities ; Humans ; Mutation ; Myositis Ossificans/genetics ; Myositis Ossificans/pathology
    Chemical Substances ACVR1 protein, human (EC 2.7.11.30) ; Activin Receptors, Type I (EC 2.7.11.30)
    Language English
    Publishing date 2019-04-22
    Publishing country United States
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1493479-6
    ISSN 1552-4833 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 1552-4825
    DOI 10.1002/ajmg.a.61153
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  6. Article: The degree of H19 hypomethylation in children with Silver-Russel syndrome (SRS) is not associated with the severity of phenotype and the clinical severity score (CSS).

    Gucev, Zoran S / Saranac, Ljiljana / Jancevska, Aleksandra / Tasic, Velibor

    Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)

    2013  Volume 34, Issue 2, Page(s) 79–83

    Abstract: Background: Hypomethylation of the imprinting control region 1 (ICR 1) at the IGF2/H19 locus on 11p15 is linked to Silver-Russel syndrome (SRS).: Methods and results: We tested the hypothesis that the severity of the phenotype in SRS patients is ... ...

    Abstract Background: Hypomethylation of the imprinting control region 1 (ICR 1) at the IGF2/H19 locus on 11p15 is linked to Silver-Russel syndrome (SRS).
    Methods and results: We tested the hypothesis that the severity of the phenotype in SRS patients is dependent on the clinical severity score (CSS) (1). Three SRS patients were clinically scored and their scores ranged between 12, 13 and 13. Two of the three SRS patients (66%) had hypomethylation of one allele.
    Conclusion: All three patients had high CSS. Nevertheless, only two of them had hypomethylation of one H19 allele. Interestingly, two of them had ventricular septal defects, but only one had H19 hypomethylation. All children had low birth length and weight, a classic facial phenotype, haemihypertrophy (>2.5 cm thinner left arm/leg in comparison to the right one), shorter leg, and striking thinness (BMI of >16.0). One child was operated for cryptorchidismus, and the same child had elbow contracture. Two children had scoliosis. All three children were short (-3 to 5.5 SD), and treatment with GH resulted in growth on the third percentile. Since one child had no hypomethylation and two had a lower degree of hypomethylation, the higher CSS (12, 13 and 13) was not followed by a higher degree of hypomethylation of the IGF2/H19 locus.
    MeSH term(s) Adolescent ; Adolescent Development ; Age Factors ; Child ; Child Development ; Child, Preschool ; DNA Methylation ; Female ; Genetic Markers ; Genetic Predisposition to Disease ; Humans ; Male ; Molecular Diagnostic Techniques ; Phenotype ; Polymerase Chain Reaction ; Potassium Channels, Voltage-Gated/genetics ; Prognosis ; Promoter Regions, Genetic ; RNA, Long Noncoding/genetics ; Severity of Illness Index ; Silver-Russell Syndrome/diagnosis ; Silver-Russell Syndrome/genetics ; Silver-Russell Syndrome/physiopathology ; Silver-Russell Syndrome/therapy
    Chemical Substances Genetic Markers ; H19 long non-coding RNA ; KCNQ1OT1 long non-coding RNA, human ; Potassium Channels, Voltage-Gated ; RNA, Long Noncoding
    Language English
    Publishing date 2013-11-28
    Publishing country North Macedonia
    Document type Case Reports ; Journal Article
    ZDB-ID 2743787-5
    ISSN 1857-8985 ; 1857-9345
    ISSN (online) 1857-8985
    ISSN 1857-9345
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  7. Article ; Online: Rare heterozygous GDF6 variants in patients with renal anomalies.

    Martens, Helge / Hennies, Imke / Getwan, Maike / Christians, Anne / Weiss, Anna-Carina / Brand, Frank / Gjerstad, Ann Christin / Christians, Arne / Gucev, Zoran / Geffers, Robert / Seeman, Tomáš / Kispert, Andreas / Tasic, Velibor / Bjerre, Anna / Lienkamp, Soeren S / Haffner, Dieter / Weber, Ruthild G

    European journal of human genetics : EJHG

    2020  Volume 28, Issue 12, Page(s) 1681–1693

    Abstract: Although over 50 genes are known to cause renal malformation if mutated, the underlying genetic basis, most easily identified in syndromic cases, remains unsolved in most patients. In search of novel causative genes, whole-exome sequencing in a patient ... ...

    Abstract Although over 50 genes are known to cause renal malformation if mutated, the underlying genetic basis, most easily identified in syndromic cases, remains unsolved in most patients. In search of novel causative genes, whole-exome sequencing in a patient with renal, i.e., crossed fused renal ectopia, and extrarenal, i.e., skeletal, eye, and ear, malformations yielded a rare heterozygous variant in the GDF6 gene encoding growth differentiation factor 6, a member of the BMP family of ligands. Previously, GDF6 variants were reported to cause pleiotropic defects including skeletal, e.g., vertebral, carpal, tarsal fusions, and ocular, e.g., microphthalmia and coloboma, phenotypes. To assess the role of GDF6 in the pathogenesis of renal malformation, we performed targeted sequencing in 193 further patients identifying rare GDF6 variants in two cases with kidney hypodysplasia and extrarenal manifestations. During development, gdf6 was expressed in the pronephric tubule of Xenopus laevis, and Gdf6 expression was observed in the ureteric tree of the murine kidney by RNA in situ hybridization. CRISPR/Cas9-derived knockout of Gdf6 attenuated migration of murine IMCD3 cells, an effect rescued by expression of wild-type but not mutant GDF6, indicating affected variant function regarding a fundamental developmental process. Knockdown of gdf6 in Xenopus laevis resulted in impaired pronephros development. Altogether, we identified rare heterozygous GDF6 variants in 1.6% of all renal anomaly patients and 5.4% of renal anomaly patients additionally manifesting skeletal, ocular, or auricular abnormalities, adding renal hypodysplasia and fusion to the phenotype spectrum of GDF6 variant carriers and suggesting an involvement of GDF6 in nephrogenesis.
    MeSH term(s) Adolescent ; Adult ; Animals ; Cell Line ; Child ; Child, Preschool ; Female ; Growth Differentiation Factor 6/genetics ; Growth Differentiation Factor 6/metabolism ; Heterozygote ; Humans ; Infant ; Kidney Tubules/abnormalities ; Kidney Tubules/metabolism ; Male ; Mice ; Mutation ; Urogenital Abnormalities/genetics ; Urogenital Abnormalities/pathology ; Vesico-Ureteral Reflux/genetics ; Vesico-Ureteral Reflux/pathology ; Xenopus
    Chemical Substances GDF6 protein, human ; Growth Differentiation Factor 6
    Language English
    Publishing date 2020-07-31
    Publishing country England
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1141470-4
    ISSN 1476-5438 ; 1018-4813
    ISSN (online) 1476-5438
    ISSN 1018-4813
    DOI 10.1038/s41431-020-0678-9
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    Zs.A 3589: Show issues Location:
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  8. Article: The Spectrum of Kidney Diseases in Children Associated with Low Molecular Weight Proteinuria.

    Salihu, Shpetim / Tosheska, Katerina / Aluloska, Natasa / Gucev, Zoran / Cekovska, Svetlana / Tasic, Velibor

    Open access Macedonian journal of medical sciences

    2018  Volume 6, Issue 5, Page(s) 814–819

    Abstract: Background: Proteinuria, in addition to haematuria, is the most important laboratory parameter in patients with nephro-urological diseases. Low molecular weight proteinuria (LMWP) is of particular importance because some diseases genetic and ... ...

    Abstract Background: Proteinuria, in addition to haematuria, is the most important laboratory parameter in patients with nephro-urological diseases. Low molecular weight proteinuria (LMWP) is of particular importance because some diseases genetic and tubulointerstitial are diagnosed based on its presence.
    Aim: The purpose of this study is to describe the clinical features, the course and outcome of pediatric patients with a renal disease associated with LMWP.
    Material and methods: This retrospective observational study included 250 pediatric patients with various kidney diseases in which the type of proteinuria was defined by 4-20% gradient gel sodium dodecyl sulphate polyacrylamide gel (SDS-PAG) electrophoresis.
    Results: Isolated LMWP was detected in 12% of patients, while mixed glomerulotubular proteinuria was detected in 18% of patients. It was detected in all patients with the Dent-1/2 disease, Lowe's syndrome and secondary Fanconi syndrome. Transient LMWP was also detected in a series of 12 patients with distal renal tubular acidosis. In patients with nephrotic syndrome, it was associated with corticoresistence and unfavourable clinical course.
    Conclusion: This study contributes to the understanding of the clinical spectrum of various kidney diseases associated with LMWP, their natural course, and the effect of therapy.
    Language English
    Publishing date 2018-05-16
    Publishing country North Macedonia
    Document type Journal Article
    ISSN 1857-9655
    ISSN 1857-9655
    DOI 10.3889/oamjms.2018.221
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  9. Article: Low Molecular Weight Proteinuria in Children with Distal Renal Tubular Acidosis.

    Salihu, Shpetim / Tosheska, Katerina / Cekovska, Svetlana / Gucev, Zoran / Polenakovic, Momir / Tasic, Velibor

    Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)

    2018  Volume 39, Issue 1, Page(s) 91–95

    MeSH term(s) Acidosis, Renal Tubular/physiopathology ; Acidosis, Renal Tubular/urine ; Biomarkers/urine ; Child, Preschool ; Delayed Diagnosis/adverse effects ; Electrophoresis/methods ; Female ; Humans ; Infant ; Male ; Proteinuria/physiopathology
    Chemical Substances Biomarkers
    Language English
    Publishing date 2018-08-15
    Publishing country North Macedonia
    Document type Journal Article
    ZDB-ID 2743787-5
    ISSN 1857-8985 ; 1857-9345
    ISSN (online) 1857-8985
    ISSN 1857-9345
    DOI 10.2478/prilozi-2018-0028
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  10. Article ; Online: Novel Founder Mutation in

    Dimishkovska, Marija / Kotori, Vjosa Mulliqi / Gucev, Zoran / Kocheva, Svetlana / Polenakovic, Momir / Plaseska-Karanfilska, Dijana

    Balkan medical journal

    2018  Volume 35, Issue 1, Page(s) 108–111

    Abstract: Background: Fanconi anemia is a rare autosomal recessive or X-linked disorder characterised by clinical and genetic heterogeneity. Most fanconi anemia patients harbour homozygous or double heterozygous mutations in the : Case report: The novel : ... ...

    Abstract Background: Fanconi anemia is a rare autosomal recessive or X-linked disorder characterised by clinical and genetic heterogeneity. Most fanconi anemia patients harbour homozygous or double heterozygous mutations in the
    Case report: The novel
    Conclusion: The finding of the
    MeSH term(s) Balkan Peninsula ; Child ; Child, Preschool ; DNA Mutational Analysis ; DNA-Binding Proteins ; Fanconi Anemia/genetics ; Fanconi Anemia Complementation Group A Protein/genetics ; Female ; Founder Effect ; Homozygote ; Humans ; Kosovo ; Macedonia (Republic) ; Mutation ; Roma/genetics
    Chemical Substances DNA-Binding Proteins ; FANCA protein, human ; Fanconi Anemia Complementation Group A Protein
    Language English
    Publishing date 2018-02-05
    Publishing country Turkey
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2612982-6
    ISSN 2146-3131 ; 2146-3123
    ISSN (online) 2146-3131
    ISSN 2146-3123
    DOI 10.4274/balkanmedj.2017.0618
    Database MEDical Literature Analysis and Retrieval System OnLINE

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