Guchev, Zoran

Preferred name

Guchev, Zoran

Official Name

Guchev, Zoran

Main Affiliation

zoran.guchev@medf.ukim.edu.mk

Now showing 1 - 10 of 30

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Lesch-Nyhan syndrome: a novel complex mutation with severe phenotype
(Wiley, 2010-09)
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S Koceva
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Marinaki, Anthony
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Fairbanks, Lynette
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Silver-Russell Syndrome (RSS) in a 16-year old boy with atrial and ventricular septal defect (ASD, VSD)
(2006)
Jancevska, Aleksandra
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Jovanov, Gjorgji
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Zafirovski, Gjorgi
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A four years old boy was referred for dysmorphic features: a broad, prominent forehead with small triangular face, small narrow chin, divergent strabism, low set ears, short neck, clinodactyly, and contractures of both elbows. His mental development was retarded. He attains a school for children with special needs. His gait and motor coordination is awkward. Cryptorchidism was surgically corrected. Physical examination with additional ultrasound revealed a congenital cardiopathy: atrial and ventricular septal defect (ASD, VSD). Both anomalies have been surgical corrected later. His birth weight and length were low, but he started growth delay in the early childhood attaining short stature at the time of his referral (-4.75 SD). His bone age was delayed for two years. Test of pituitary reserve revealed normal growth hormone levels (18.8 and 14.1 ng/ml). Sella turcica had double contoures. Treatment with growth hormone was started at the age of seven years. Growth velocity increased and after three years he attained the third percentile (-2 SD). In total he gained 2.75 SD making the treatment with GH successful. It has to be stressed that the effect of GH treatment was additionally hampered by the short familial stature (mother 159 cm, father 164 cm, target height 166 cm). Occasional reports of association of RSS with congenital cardiac anomalies are published. Still this association is rare. It is of note that GH treatment was successful in spite of normal GH concentrations on pituitary reserve tests. RSS, its association with other anomalies and the response of RSS to GH treatment are discussed in this paper.
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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
(Macedonian Academy of Sciences and Arts, 2019)
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Mitrotti A
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Riepe FG
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Kulle AE
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Laban Nevenka
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 chromo-some 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, all46,XX SRY-negative males should be screened for SOX3gene duplications with DNA microarrays.
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Severe digital malformations in a rare variant of fibrodysplasia ossificans progressiva
(Wiley, 2019-04-22)
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Plasheska Karanfilska D
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Dimishkovska M
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Laban N
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Papillorenal syndrome after beta-interferon treatment in pregnancy
(Informa Healthcare, 2009)
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Jancevska, Aleksandra
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Pop Jordanova, Nada
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Papillo-Renal Syndrome (PRS, or Renal-Coloboma Syndrome) is an autosomal dominant disorder, characterized by colobomatous eye defects, abnormal vascular pattern of the optic disk, renal hypoplasia, vesicoureteral reflux, high-frequency hearing loss, and sometimes central nervous system (CNS) abnormalities. The syndrome is associated with mutations in the PAX2 gene. This 11-year-old girl's mother was treated with beta-interferon (IFNbeta-1a) for multiple sclerosis (MS) during the pregnancy. The child failed to thrive in infancy and early childhood. The multicystic renal dystrophy, hypoplastic right kidney, and vesico-ureteral reflux (II-III grade) were diagnosed by ultrasound and radionucleotide renal scan. Subsequently, a morning glory anomaly and coloboma of the optic disc was discovered. Renal failure progressively followed. MRI of the head revealed a cyst of the right optic nerve. Genetic analysis revealed a mutation of the PAX2 gene (619 insG). The multicystic renal dystrophy and a cyst of the optic nerve in association with PRS syndrome have only rarely been described. The fact that this PRS patient stemmed from a pregnancy under beta-interferon treatment raises the question whether IFNbeta-1a treatment during pregnancy has influenced the manifestation or the severity of the PAX2 mutant phenotype in this child.
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IGF1R Gene Alterations in Small for Gestational Age (SGA) Children
(ID-Design/Scientific foundation SPIROSKI, 2018-05-20)
Aleksandra Janchevska
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Aleksandar Dimovski
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Two cases of non-syndromic congenital unilateral breast hypoplasia in one family
(Institute of Public Health of the Republic of North Macedonia = Институт за јавно здравје на Република Северна Македонија, 2020-02-20)
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Ana Stamatova
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Micromastia or breast hypoplasia is described as underdevelopment of a womanâ€™s mammary tissue. We present the case of a 15-year-old girl with unilateral micromastia, with familial predisposition. Ultrasound, hormonal, dysmorphic, cardiologic, genetic examinations and testing were performed. No mutation in the whole- exome sequencing was found, nor novel mutation. Some of these cases have been reported to be related to breÐ°st cancer so further follow-up is mandatory. Therapy consists of surgical reconstruction of the affected breast. This is a rare condition and it requires a multidisciplinary approach.
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IGF1R Gene Alterations in Children Born Small for Gestitional Age (SGA)
(ID-Design/Scientific foundation SPIROSKI, 2018-11-25)
Aleksandra Janchevska
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Marina Krstevska-Konstantinova
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Heike Pfäffle
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Marina Schlicke
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Nevenka Laban
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Severe digital malformations in a rare variant of fibrodysplasia ossificans progressiva
(Wiley-Blackwell, 2019)
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Plaseska-Karanfilska Dijana
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Dimishkovska Marija
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Laban Nevenka
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The Spectrum of Kidney Diseases in Children Associated with Low Molecular Weight Proteinuria
(ID Design 2012/Scientific Foundation SPIROSKI, 2018-05-20)
Shpetim Salihu
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Natasa Aluloska
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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.

Guchev, Zoran

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