7th Rare Diseases in South East Europe Meeting 7-9 June, 2019

7th Rare Diseases in South East Europe Meeting 7-9 June, 2019

7th Rare Diseases in South East Europe Meeting, 7-9 June, 2019, Hotel Drim, Struga, North Macedonia

First Congress of the Macedonian Society for Rare Diseases 

(in cooperation with Prof. D-r Zoran Guchev and Prof. D-r Velibor Tasik, Prof. D-r Dijana Plasheska Karanfilska, Prof. D-r Aleksandar Dimovski and Research center for genetic engineering and biotechnology “Georgi D. Efremov”  at Macedonian Academy for Science and Art)

Organizing Committee:

Zoran Gucev – President, Velibor Tasic – Secretary, Vesna Aleksovska, Aleksandra Jancevska, Gordana Loleska, Bojan Teov

Scientific Committee:

Aleksandar Dimovski, Momir Polenakovic, Zoran Gucev, Velibor Tasic, Dijana Plaseska Karanfilska, Katerina Stavric, Irina Panovska Stavridis, Bojko Bjelakovic, Kristina Mironska, Vesna Ambrakova

Participating countries: North Macedonia, Serbia, Croatia, Albania, Bosnia and Herzegovina, Bulgaria, Montenegro, Slovenia

07.06.2019 Friday

15.00 – 17.00 – Meeting of organizing and scientific committee

19.00 – 22.00 – Cocktail dinner at the hotel for all participants

08.06.2019 Saturday

8.00 – 9.00 – Registration of participants

9.00 – 9.40 – Welcome and introductions

  • Venko Filipce, Ministry of Health of R. North Macedonia
  • Den Donchev, Health Insurance Fund of North Macedonia
  • Vesna Aleksovska, President of LIFE WITH CHALLENGES
  • Zoran Gucev, Macedonian society for rare diseases
  • Aleksandar Dimovski, Research center for genetic engineering and biotechnology “Georgi D. Efremov”  at Macedonian Academy for Science and Art

9.50 – 10 .30 – Electronic rare disease registry for rare diseases, Program for rare diseases – progress in rare disease in North Macedonia –  Suzana Manevska, Elena Shukarova, Commission for rare diseases at the Ministry of Health of R. North Macedonia

10.30 – 10.50 – Next generation sequencing in the routine genetic diagnostics: our experience and lessons learnt –Dijana Plasheska Karanfilska, Research center for genetic engineering and biotechnology “Georgi D. Efremov”  at Macedonian Academy for Science and Art

10.50 – 11.10 – Inherited colorectal cancer syndromes –  Aleksandar Dimovski, Research center for genetic engineering and biotechnology “Georgi D. Efremov”  at Macedonian Academy for Science and Art

11.10 – 11.30 –  Rare disease patient advocates – challenges and recommendations for solutions in rare diseases in the region from the view of the patients – Davor Duboka, Serbia, NORBS

11.30 – 12.00 Coffee break – poster presentation available on electronic panels 

12.00 – 12.40 – Sphingolipids: a conspectus in health and disease – Timothy Cox, Director of Research and Professor Emeritus in the Department of Medicine, University of Cambridge, UK

12.40 – 13.10 – Skeletal dysplasia in MPSs diseases – Christina Lampe, Rare Disease Center at the University of Giessen, Germany

13.10 – 13.30 – Homozygous Familial Hypercholesterolemia in Childhood – The first case report in Southeast Europe – Bojko Bjelakovic, Medical Faculty Nish,  Serbia

13.30 – 14.10 – TTR – Familial Amyloid Polyneuropathy

  • Prof. D-r Stayko Sarafov, Sofia, Bulgaria
  • Macedonian experience with diagnosis and treatment of FAP patients – Ivan Barbov, Neurology Clinic, Skopje, North Macedonia

14.10 – 15. 00 Lunch break – poster presentation available on electronic panels 

15.00 – 16.00 – Hematology section on rare diseases

  •  Irina Panovska Stavridis –  Overview of the hematological rare disease and experience with orphan drug polatuzumab – vedotin
  • Laze Cadievski – Aplastic anemia- Experience in the Republic of North Macedonia
  • Marija Popova Labacevska – Diagnosis of mieloproliferative Neoplasms in the Republic of North Macedonia
  • Martin Ivanovski – Langerhans cell histiocytosis in adults, overview and case report
  • Dusko Dukovski – Flow cytometry imunophenotyping in diagnosis and contemporary treatment of paroxysmal nocturnal hemoglobinuria (PNH)
  • Sanja Trajkova – New treatment modalities in thrombotic thrombocytopenic purpura (TTP) 
  • Svetlana Stavkovik – Emicizumab a new treatment option for people with hemophilia A

16.00 – 16.20 – PHENYLKETONURIA: why newborn screening and early dietary treatment are of crucial importance? – Cilinical Nutritionist – metabolic dietitian  – Astrinia Skarpalezou, Greece, National Newborn Screening Dept. Institute of Child Health, A. Sophia Children’s Hospital, Athens, Greece

16.20 – 16.40 – Epidermolysis bullosa  – an overview of medical problems and complications – Slobodna Murat-Sušić, University Department of Dermatology and Venereology, Zagreb University Hospital Centre and School of Medicine, Croatia

16.40 – 17.00 – Diagnostic challenges and modern pharmacological treatment of Idiopathic Pulmonary Fibrosis – Jasna Tekavec Trkanjec, Zagreb, Croatia

*Parallel symposium for physiotherapists in another conference room will be held with Marion Main from 15.30 to 19.00 on physiotherapy for children with Spinal Muscular Atrophy and Muscular Dystrophy. (Prof. Marion Main, UK, Importance of physical therapy in patients with Muscular Dystrophy Duchenne)

20.00 – 23.00 Dinner 

09.06.2019 Sunday

8.00 – 8.30 – Conclusions from previous discussions, introduction to the program

8.30 – 8.50 – Growth Hormone Deficiency; Diagnostic Pitfalls and Treatment Outcomes – Liljana Saranac, Pediatrician&Endocrinologist,  Faculty of Medicine, Nis, University of  Nis, Serbia

8.50 – 9.10 – Global issues Sustainable development goals – Liesbeth Siderius, Netherlands

9.10 – 9.30 –Pompe disease – Prof. D-r Ivaylo Tournev, Bulgaria

9.30 – 10.00 – Genomic testing in the age of rare diseases: Opportunities and challenges – Todor Arsov, Centre for Personalised Immunology, John Curtin School of Medical Research, The Australian National University, Canberra, Australia

10.00 – 10.20 – Latest research of treatment and care of patients with Spinal Muscular Atrophy – Marco Castillo, Basel, Switzerland

10.20 – 11.00 – Initial stabilization of an infant with propionic acidemia – D-r Kaloyan Tsochev, Medical University – Varna, Bulgaria

11.00 11.20 – Vjosa Kotori,

11.20 – 11.40 – Coffee break

11.40 – 12.00 – Rare forms  of short stature – Zoran Gucev, North Macedonia

12.00 – 12.20 – Idiopathic infantile hypercalcemia – Velibor Tasic, North Macedonia

12.20 – 14.00 – Poster sessions- poster presentation available on electronic panels

  • Unusual presentation of Goldenhar syndrome with renal involvement – Aluloska N1, Zdraveska N1, Jovanovska J1, Tasic V21Neonatology department, University Children Hospital, Skopje, republic of North Macedonia. 2Nephrology department, University Children Hospital, Skopje, republic of North Macedonia
  • Congenital cystic adenomatoid malformation: a report of few cases – Aluloska N 1 , Zdraveska N 1 , Jovanovska J 1 , Micevska V 2, Jovcevski L 3 , Kocovski G 4, 1 Neonatology department, University Children Hospital, Skopje, Republic of North Macedonia, 2 Pulmology department, University Children Hospital, Skopje, Republic of North Macedonia, 3 University Hospital for childhood surgery, Skopje, Republic of North Macedonia, 4 University Clinic of Gynecology and obstetrics, Skopje, Republic of North Macedonia
  • Hereditary motor and sensory neuropathy-type V – Gordana Kiteva-Trenchevska, University Clinic of neurology, Medical faculty Skopje
  • Potocki-Lupski syndrome ((dup(17)(p11.2p11.2)) in a toddler with early behavioral disturbances – Anita Janjica, Despina Trajanovaa, Zoran Guceva,  Marko Kostovskiv, Gjorgji Bozinovskib, Dijana Plaseska-Karanfilskab, Velibor Tasicaa Medical Faculty, Skopje, Macedonia, bMacedonian Academy of Sciences and Arts, Skopje, Macedonia
  • Challenges in renal replacement therapy in a patient with active pudenz valve due to spina bifida: case report – Gjorgjievski N, Popovska B, Stojanoska A, Muharemi Sh, Kabova A, Janevski Z, Canevska-Taneska A,Spasovska A, Milenkova M, Bedzeti B, Saidi M, Dzekova-Vidimliski P, Bushletik-Rambabova I. University Hospital of Nephrology Skopje.
  • Transtiretin familial amyloid polyneuropathy: report of a family – 1University Clinic for Neurology, Skopje, Macedonia, I. Barbov1, G. Kalcev1, F. Stojkovska1, G. Novotni1
  • Non – bullous congenital ichthyosiform erithroderma: case report – 1University Clinic for Gynecology and Obstetrics, Skopje, N. Macedonia. 2 Ministry of Health, Skopje, N. Macedonia, Zisovska1 G. Kalcev1 J. Misevski2
  • Everolimus in treatment of Angiomyolipoma and Subependymal Giant Cell Astrcytoma  in patient with Tuberous sclerosis complex-Case report – Irena Rambabova Bushljetikj,  University Clinic of Nephrology-Skopje,  Republic of North Macedonia
  • Dental management of patient with Von Willebrand disease  – V Ambarkova1, J Nikolovska1, A Janchevska2, Jovanovska A2, Ambarkov J3, 1University St. Cyril and Methodius, Faculty of Dental Medicine, Skopje, Republic of Macedonia, 2University St. Cyril and Methodius, Faculty of Medicine, University Children’s Hospital, Skopje, Republic of Macedonia, 3Student at University St. Cyril and Methodius, Faculty of Medicine, Skopje, Republic of Macedonia
  • Malrotation as a rare cause of prolonged vomiting in a young infant – Jovanovska J1, Zdraveska N1, Ziberi J2, Trajkovski Z3, Aluloska N1, 1Neonatology department, University Children’s Hospital, Skopje, Republic of North Macedonia, 2University Hospital for childhood surgery, Skopje, Republic of North Macedonia, 3 Clinical Hospital Adzibadem Sistina, Skopje, Republic of North Macedonia
  • Prosthodontic solution of totally edentulous patient with Sjögren syndrome – 1 Faculty of Dentistry, Department of Prosthodontics, Skopje, Macedonia, 2 Faculty of Dentistry, Department of Orthodontics, Skopje, Macedonia, 3 Faculty of Dentistry, Department of Pediatric and Preventive Dentistry, Skopje, Macedonia, Stavreva 1 , B. Kapusevska 1, J. Bundevska 1, V. Korunoska Stefkovska 1, N. Toseska Spasova 2, V. Ambarkova 3
  • An adolescent with isolated hypoparathyroidism (IHPT) with hypomagnesemia – Kostovski M 1 , Janjikj A 2 , Gucev Z 2 , Tasic V 2, 1 Medical Faculty, University Ss Cyril and Methodius of Skopje, Skopje, North Macedonia, 2 University Paediatric Clinic, Medical Faculty Skopje, North Macedonia
  • NEWBORN SCREENING FOR CYSTIC FIBROSIS IN R. N.MACEDONIA: RESULTS OF A PILOT STUDY. S.Fustik1, V. Atanasovska2, A.Stamatova1, L.Spirevska1,  M. Pesevska2, M. Terzikj3, D. Plaseska-Karanfilska3.Department for Cystic Fibrosis, University Children’s Clinic, R.N.Macedonia, 2Laboratory for Newborn Screening, University Children’s Clinic, R.N.Macedonia, 3 Research Center for Genetic Engineering and Biotechnology “Georgi D. Efremov;
  • INFANT WITH RESTRICTIVE CARDIOMYOPATHY DUE TO DOUBLE HETEROZYGOSITY FOR TTN MUTATIONS. Valentina Jovanovska,¹ Dijana Plaseska-Karanfilska,² Marija Dimishkovska,² Rozana Kacarska,¹ Konstandina Kuzevska Maneva,¹  BetiGjurkova Angelovska,¹ Marija Neskovska Shumenkovska ¹. ¹ PHI University Clinic for Children Diseases- Skopje, ² Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov”, MASA, Skopje, R.N. Macedonia;
  • Malrotation as a rare cause of prolonged vomiting in a young infant. Jovanovska J1, Zdraveska N1, Ziberi J2, Trajkovski Z3, Aluloska N1. 1Neonatology department, University Children’s Hospital, Skopje, Republic of North Macedonia, 2University Hospital for childhood surgery, Skopje, Republic of North Macedonia, 3 Clinical Hospital Adzibadem Sistina, Skopje, Republic of North Macedonia

14.00 – 15.00 Lunch and departure of participants

Vesna Aleksovska

President of the Association of citizens for rare diseases,
Life With Challenges – Bitola

Tel: +389 (0)70 70 54 46

e-mail: zivotsopredizvici@gmail.com ; vesna.stojmirova@gmail.com

 

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