Zobrazeno 1 - 10
of 96
pro vyhledávání: '"Mirjana Kocova"'
Autor:
Marija Gjorgjievska, Gjorgji Bozhinovski, Elena Sukarova-Angelovska, Mirjana Kocova, Lejla Muaremoska Kanzoska, Dijana Plaseska-Karanfilska
Publikováno v:
Balkan Medical Journal, Vol 40, Iss 4, Pp 252-261 (2023)
Background: Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder, characterized by multiple café-au-lait macules, axillary and inguinal freckling, tumors of the nervous system, and iris hamartomas. More than 3,100 differen
Externí odkaz:
https://doaj.org/article/641db54125e7403187bdbc40eb21d436
Publikováno v:
Frontiers in Endocrinology, Vol 12 (2022)
Substantial research has been performed during the last decades on the clinical and genetic variability of congenital adrenal hyperplasia (CAH) and its most common form, 21-hydroxylase deficiency (21OHD). CAH is one of the most prevalent autosomal re
Externí odkaz:
https://doaj.org/article/ca127722c3c046ccad75688f71dfcc6e
Publikováno v:
European Journal of Medical Research, Vol 24, Iss 1, Pp 1-6 (2019)
Abstract Background The simple virilizing (SV) form of congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder usually caused by steroid 21-hydroxylase deficiency due to I172N missense mutation at the CYP21A2 gene. Clinical presentati
Externí odkaz:
https://doaj.org/article/5c2cb10ccda84ab99fa8329b2dbeb45b
Autor:
Vanesa Koracin, Matej Mlinaric, Ivo Baric, Ian Brincat, Maja Djordjevic, Ana Drole Torkar, Ksenija Fumic, Mirjana Kocova, Tatjana Milenkovic, Florentina Moldovanu, Vjosa Mulliqi Kotori, Michaela Iuliana Nanu, Ziga Iztok Remec, Barbka Repic Lampret, Dimitrios Platis, Alexey Savov, Mira Samardzic, Biljana Suzic, Ildiko Szatmari, Alma Toromanovic, Mojca Zerjav Tansek, Tadej Battelino, Urh Groselj
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Significant part of Southeastern Europe (with a population of 76 million) has newborn screening (NBS) programs non-harmonized with developed European countries. Initial survey was conducted in 2013/2014 among 11 countries from the region (Albania, Bu
Externí odkaz:
https://doaj.org/article/ec423af9e8d3444db4d23e83a269945c
Autor:
Nikolina Zdraveska, Mirjana Kocova, Adeline K. Nicholas, Violeta Anastasovska, Nadia Schoenmakers
Publikováno v:
Frontiers in Endocrinology, Vol 11 (2020)
Neonatal screening in Macedonia detects congenital hypothyroidism (CH) with an incidence of 1 in 1,585, and more than 50% of cases exhibit a normally located gland-in-situ (GIS). Monogenic mutations causing dyshormonogenesis may underlie GIS CH; addi
Externí odkaz:
https://doaj.org/article/39695879f4994480b45cb39e822b7ee6
Publikováno v:
Endocrine Connections, Vol 7, Iss 4, Pp 544-552 (2018)
Background: Testicular adrenal rest tumors (TARTs) are found in 30–94% of adult males with congenital adrenal hyperplasia (CAH). We sought to explore TART appearance through yearly ultrasound examination of testes in young boys with CAH, and its as
Externí odkaz:
https://doaj.org/article/3998e4d1d3ec49f887448891444518e6
Autor:
J. Gerard Loeber, Dimitris Platis, Rolf H. Zetterström, Shlomo Almashanu, François Boemer, James R. Bonham, Patricia Borde, Ian Brincat, David Cheillan, Eugenie Dekkers, Dobry Dimitrov, Ralph Fingerhut, Leifur Franzson, Urh Groselj, David Hougaard, Maria Knapkova, Mirjana Kocova, Vjosa Kotori, Viktor Kozich, Anastasiia Kremezna, Riikka Kurkijärvi, Giancarlo La Marca, Ruth Mikelsaar, Tatjana Milenkovic, Vyacheslav Mitkin, Florentina Moldovanu, Uta Ceglarek, Loretta O'Grady, Mariusz Oltarzewski, Rolf D. Pettersen, Danijela Ramadza, Damilya Salimbayeva, Mira Samardzic, Markhabo Shamsiddinova, Jurgita Songailiené, Ildiko Szatmari, Nazi Tabatadze, Basak Tezel, Alma Toromanovic, Irina Tovmasyan, Natalia Usurelu, Parsla Vevere, Laura Vilarinho, Marios Vogazianos, Raquel Yahyaoui, Maximilian Zeyda, Peter C.J.I. Schielen
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 1, p 15 (2021)
Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders (“conditions”) then gradually expanded, with a boost in the late 1990s with the introduction of tandem mass
Externí odkaz:
https://doaj.org/article/b2da148c817c463e8d75115a3ccc2d88
Autor:
Mirjana Kocova, Liljana Milenkova
Publikováno v:
SAGE Open Medical Case Reports, Vol 6 (2018)
Mauriac syndrome has rarely been reported in children and adolescents with a poorly controlled diabetes mellitus type 1. However, it still occurs despite the worldwide improvements of metabolic control. The risks have not been elucidated. We present
Externí odkaz:
https://doaj.org/article/12d34423e7684bd89b31250437db9b30
Autor:
Mirjana Kocova, Nikolina Zdraveska, Maja Zdravkovska, Violeta Anastasovska, Daniela Pop Gjorceva
Publikováno v:
SAGE Open Medical Case Reports, Vol 4 (2016)
Objective: Thyroid ectopy is a rare condition resulting from abnormal embryologic development and migration of the gland. Sublingual is the most common thyroid ectopy; all other ectopic thyroid locations occur very rare. There are no reports in the l
Externí odkaz:
https://doaj.org/article/2aaacaf1551a42f7b6cbc02fa5ce08c7
Autor:
Violeta Anastasovska, Elena Sukarova-Angelovska, Milica Pesevska, Elizabeta Taseva, Mirjana Kocova
Publikováno v:
International Journal of Neonatal Screening, Vol 3, Iss 3, p 22 (2017)
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 cu
Externí odkaz:
https://doaj.org/article/7feb59ec12674015a83e909a33daadb2