Professor of Paediatrics, University Children' Hospital, Medical Faculty Skopje, North Macedonia

Dr Zoran Gucev is a Professor of Paediatrics at the University Children’ Hospital at the Medical Faculty Skopje. Dr Gucev grew up in Skopje where he graduated in medicine, and later philosophy. He pursued a career in paediatric medicine. After training in paediatric endocrinology and clinical genetics in Skopje he continued his education in Vienna (1988-1989), OHSU, Portland, OR, USA (1994-1997), UCSF, San Francisco, CA, USA (2012). Shorter stays in Paris, Berlin, Murcia, Leipzig were also part of his education. The USMLE-ECFMG examination was of special significance in his professional formation. In the period 2002-2006 he was a Director of the University Children’s Hospital at the Medical Faculty Skopje, bringing considerable renovation by donor’s contributions. In the period 1999-2005 he was the Vice-Dean of the Medical Faculty in Skopje reforming the curricula and bringing a large Tempus-Phare EU project. He is the member of European Academy of Sciences and Arts since 2016. Since November 2017 he is the member of L’Academie Nationale de Medicine (France).

Projects in diabetes and molecular medicine followed. He is an author of 7 books (Pediatric Endocrinology, Diabetes, Dysmorphology...), and121 articles in peer-reviewed journals (New Engl J Med, Nature Genetics Endocrinology, Cancer Research, Hormone Research, Clinical Genetics, Journal of Endocrinological Investigation...).

He was the organizer of one European Society of Endocrinology conference and 3 SEE conferences on Paediatrics, as well as the host of the Winter School of European Society of Paediatric Endocrinology. Rare diseases: endocrine, metabolic, syndromes are his rather special interest in the last several years resulting in more articles.

When not at work, Dr Gucev enjoys hiking, travelling, reading fiction and philosophy.

Speech Title: Enzyme replacement treatment in Morquio IV A children

Abstract: Efficacy and safety of elosulfase alfa enzyme replacement therapy (ERT) were assessed in two children with MPS IVA (Morquio A). The follow-up was 210 weeks. Children received 2.0mg/kg elosulfase alfa weekly or every other week. Six-minute walk test (6MWT) and three-minute stair climb test (3MSCT) were the primary efficacy measure. Urinary keratin sulphate was not available.
Efficacy measures were compared to baseline and after 52, 104, 156, 210 weeks. Both children got a significant increase in their energy level and muscle strength, with apparent amelioration in their 6MWT and 3MSCT. It is of note that their energy levels declined the last day before receiving the ERT. The phenomenon was seen in both children although their age was different, 4.5 years and 11 years. Those effects on energy have been maintained during the whole 210w treatment.
Their genetic variants were different: Homozygous deletion of encompassing exon 1 (previously unreported); and heterozygous mutation c.1381T>C (p.Tyr461His)(also previously unreported), while the older child had previously described homozygous mutation S287L (c.860C>Tc.860 C>T). The older child had kyphoskoliosis, deformed hands and feet and short stature. The younger child developed scoliosis, treated with braces, while his pigeon chest became more prominent. Hearing loss was treated with hearing device in the older child, while the younger was judged not to need them so far. No corneal opacities or vision problems were noted in both children. Odontoid dysplasia was observed in the older child, while the younger had a normal odontoid. A moderate degree of restrictive pulmonary without cardiac affection was present only in the older child. Safety was good with only one episode of mild allergy which could not be attributed to the enzyme. Further studies comparing historic data on growth, skeletal anomalies, cardiovascular system are needed to precisely assess the beneficial effect of ERT.