март 2019

 

REGIONAL MEETING in Struga, Hotel Drim, North Macedonia, 7-9 June, 2019

Gaucher regional meeting

Together towards the improvement of diagnosis, treatment, and management

(in cooperation with the Gaucher  organizations from the region)

Participating countries: North Macedonia, Serbia, Croatia, Albania, Bosnia and Herzegovina, Bulgaria, Montenegro, Slovenia (additionally there are invited guests / patient advocates from Ukraine, Romania, EURORDIS representative, IGA representatives, Regional Manager from Czech Republic)

 

07.06.2019 Friday

15.00 – 17.00 – Meeting of organizing and scientific committee

20.00 – 23.00 – Cocktail dinner at the hotel for all participants

08.06.2019 Saturday

8.00 – 9.00 – Registration of participants

9.00 – 10.10 – Welcome and introductions

• Elizabeta Gjorgievska, First Lady of the Republic of North Macedonia
• Venko Filipce, Minister at Ministry of Health of the Republic of North Macedonia
• Jagoda Shapaska, Vice president of the Health commission at the assembly of the Republic of North Macedonia
• Aleksandar Dimovski, Research center for genetic engineering and biotechnology “Georgi D. Efremov”  at Macedonian Academy for Science and Art
• Zoran Gucev, Macedonian society for rare diseases
• Vesna Aleksovska, President of LIFE WITH CHALLENGES

10.10 – 10.30 – 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

10.30 – 11.00 – Next generation sequencing in the routine genetic diagnostics: our experience and lessons learnt –Dijana Plasheska Karanfilska,  Skopje, Macedonia

11.00 – 11.30 – Inherited colorectal cancer syndromes –  Aleksandar Dimovski,  Skopje, Macedonia

11.30 – 12.00 Coffee break

12.00 – 12 .35 Situation in the region regarding diagnosis, treatment, and management of Gaucher disease. Representatives from the organizations from the different countries will present the situation in 5 minutes each.

• Macedonia
• Serbia
• Croatia
• Bosnia and Herzegovina
• Slovenia
• Bulgaria
• Albania

12.35 – 12. 50 Regional Manager, Marketa Smockova, International Gaucher Alliance

12.50 – 13.10 Prof.  D-r Nadira Duraković, Croatia, Our experience with Gaucher disease

13.10 – 13. 40 Prof. D-r Mojca Žerjav Tanšek, and  Mirjana Zupančič, mag. med. biochem., Slovenia, Biomarkers for Gaucher disease

13.10 – 14.00 Prof. D-r Zlate Stojanoski, Hematology Clinic, North Macedonia, Current situation in management for Gaucher disease

14.00 – 15.00 Lunch break

15.00 – 16.00 Prof. D-r Timothy Cox, UK, Gaucher disease – Oral therapy

16.00 – 16.20  D-r Ermira Dervishi, Albania, Gaucher disease

16.20 – 16.40 Prof. D-r Milan Lakočević, Serbia, Clinical trial -what are they, how are they done?

16.40 -17.00 Closing remarks, discussion  conclusions from the day

20.00 – 23.00 Dinner

09.06.2019 Sunday

8.00 – 11.30 Workshops

• Families – the group will be led by Biljana Jovanović
• Patients – the group will be led by Irena Žnidar
• Medical professionals – the group will be led by Jasenka Wagner

11.30 – 12.00 Coffee break

12.00 – 14.00 Feedback from workshops, discussions, Q&A, evaluation and closing

14.00 – 15.00 Lunch and departure of participants

 

 This meeting is supported by European Organization for Rare Diseases and International Gaucher Alliance

 

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

REGIONAL MEETING ON RARE DISEASES MACEDONIA

7-9th of  June 2019, Hotel Drim, Struga, North Macedonia

Regional meeting for rare diseases patient advocates

Bringing together health and social care services for families with rare diseases

(in cooperation with the organizations for rare diseases from the region)

Participating countries: North Macedonia, Serbia, Croatia, Albania, Bosnia and Herzegovina, Bulgaria, Montenegro, Slovenia (additionally there are invited guests/patient advocates from Ukraine, Romania, EURORDIS representatives, and in the scientific program lecturers from EU and Adria region countries)

07.06.2019 Friday

15.00 – 17.00 – Meeting of organizing and scientific committee

20.00 – 23.00 – Cocktail dinner at the hotel for all participants

08.06.2019 Saturday

8.00 – 9.00 – Registration of participants

9.00 – 10.10 – Welcome and introductions

• Elizabeta Gjorgievska, First Lady of the Republic of North Macedonia
• Venko Filipce, Minister at Ministry of Health of the Republic of North Macedonia
• Jagoda Shapaska, Vice president of the Health commission at the assembly of the Republic of North Macedonia
• Aleksandar Dimovski, Research center for genetic engineering and biotechnology “Georgi D. Efremov”  at Macedonian Academy for Science and Art
• Zoran Gucev, Macedonian society for rare diseases
• Vesna Aleksovska, President of LIFE WITH CHALLENGES

10.10 – 10.30 – 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

10.30 – 11.00 – Next generation sequencing in the routine genetic diagnostics: our experience and lessons learnt –Dijana Plasheska Karanfilska,  Skopje, Macedonia

11.00 – 11.30 – Inherited colorectal cancer syndromes –  Aleksandar Dimovski,  Skopje, Macedonia

11.30 – 12.00 Coffee break

12.00 – 14.00 Public health finance and rare disease drugs – Moderator Davor Duboka

• 12.00 – 13.10 – Examples from the countries from the region (Serbia, Macedonia, Bulgaria, Croatia, Bosnia and Herzegovina, Albania, Monte Negro)
• 13.10 – 13.30 Simone Boselli, EURORDIS (European Organization for Rare Diseases)
• 13.30 – 13.50 Lecture on public health finance – Vladimir Dimkovski
• 13.50 – 14.00 Discussion and conclusions on different kinds of public funding for rare disease drugs (what is the best solution)

14.00 – 15. 00 Lunch break

15.00 – 16.30 Social services in the region – Moderator Ivana Badnjarevic

• 15.00 – 15.30 Prof. D-r Rumen Stefanov, Bulgaria, Center for rare diseases
• 15.30 – 15.50 Vlasta Zmazek, Debra Croatia, Importance of holistic care
• 15.50 – 16.20 Helpline for rare diseases – experience in the region – Croatia (Ivana Hrastar), Republic of North Macedonia (Vesna Aleksovska) and Serbia (Andrea Nenadic)
• 16.20 – 16.40 Danijela Szili, RET Syndrome Europe, What is there, when treatment is not existent?
• 16.40 – 17.00 Discussion, closing remarks

20.00 – 23.00 Dinner 

09.06.2019 Sunday

8.00 – 9.30 Conclusions from previous discussions, introduction to the program, short discussion among participants, Moderator Anja Bosilkova Antovska

9.30 – 11.30 HTA,  Clinical trials/Drug development / Organ transplant

• 9.30 – 10.00 Prim Dr Neda Milevska Kostova, International Alliance of Patient Organizations (IAPO), UK, and Studiorum, North Macedonia, Involvement of patients in health research and the role of IAPO
• 10.00 – 10.30  Biba Dodeva, Association against cancer BORKA, North Macedonia, Do we use HTA in our countries?
• 10.30 – 11.30  Pavlinka Nesovska, Baliska, NEFRON, North Macedonia, Organ transplant

11.30 – 12.00 Coffee break

12.00 – 14.00 Conclusions, discuss, plans for future regional cooperation under EURORDIS

14.00 – 15.00 Lunch and departure of participants

 This meeting is supported by EURORDIS

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

7th South East European meeting on rare diseases

First Congress of the Macedonian Society for Rare Diseases

Sharing knowledge – improving cooperation

 LIFE WITH CHALLENGES,

Macedonian Society for Rare Diseases;

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

20.00 – 23.00 – Cocktail dinner at the hotel for all participants

08.06.2019 Saturday

8.00 – 9.00 – Registration of participants

9.00 – 10.10 – Welcome and introductions

• Elizabeta Gjorgievska, First Lady of the Republic of North Macedonia
• Venko Filipce, Minister at Ministry of Health of the Republic of North Macedonia
• Jagoda Shapaska, Vice president of the Health commission at the assembly of the Republic of North Macedonia
• Aleksandar Dimovski, Research center for genetic engineering and biotechnology “Georgi D. Efremov”  at Macedonian Academy for Science and Art
• Zoran Gucev, Macedonian society for rare diseases
• Vesna Aleksovska, President of LIFE WITH CHALLENGES

10.10 – 10.30 – 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

10.30 – 11.00 – Next generation sequencing in the routine genetic diagnostics: our experience and lessons learnt –Dijana Plasheska Karanfilska,  Skopje, Macedonia

11.00 – 11.30 – Inherited colorectal cancer syndromes –  Aleksandar Dimovski,  Skopje, Macedonia

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,  University of Cambridge, UK

12.40 – 13.20 – Skeletal dysplasia in MPSs diseases – Christina Lampe, University of Giessen, Germany

13.20 – 14.00 – TTR – Familial Amyloid Polyneuropathy

• Stayko Sarafov, Sofia, Bulgaria
• Macedonian experience with diagnosis and treatment of FAP patients – Ivan Barbov, Skopje, North Macedonia

14.10 – 15. 00 Lunch break – poster presentation (electronic panels)

15.00 – 16.00 – Hematology section on rare diseases

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

16.00 – 16.20 – Homozygous Familial Hypercholesterolemia in Childhood – The first case report in Southeast Europe – Bojko Bjelakovic, Medical Faculty Nish,  Serbia

16.20 – 16.40 – PHENYLKETONURIA: why newborn screening and early dietary treatment are of crucial importance? – Astrinia Skarpalezou, Greece, National Newborn Screening Dept. Athens, Greece

16.40 – 17.00 – Epidermolysis bullosa  – an overview of medical problems and complications – Slobodna Murat-Sušić, Zagreb University Hospital Centre and School of Medicine, Croatia

17.00 – 17.20 – 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. (Importance of physical therapy in patients with Muscular Dystrophy Duchenne, Marion Main, UK)

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,   Faculty of Medicine, Nis, University of  Nis, Serbia

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

9.10 – 09.40 – Genomic testing in the age of rare diseases: Opportunities and challenges – Todor Arsov, Canberra, Australia

9.40 – 10.00 – Latest research of treatment and care of patients with Spinal Muscular Atrophy – Marco Castillo, Basel, Switzerland

10.00 – 10.20  – Challenges in diagnosis and treatment of patients with GHD in Kosovo – Vjosa Mulliqi Kotori, Prishtina, Kosovo

10.20 – 10.40 – Rare forms of short stature, Zoran Gucev, Skopje Macedonia

10.40 – 11.00  – Clinical significance of life-threatening and chronic hyperammonemias – Danko Miloshevic, Croatia

11.00 – 11.20  – Nephropathic cystinosis – outcome and treatment – Velibor Tasic, North Macedonia

11.20 – 11.40  – Hunter syndrome (HS; Mucopolysaccharidosis type II) – Zoran Gucev, North Macedonia

11.40 – 12.00  –  Coffee break 

• – 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 V². ¹Neonatology department, University Children Hospital, Skopje, republic of North Macedonia. ²Nephrology department, University Children Hospital, Skopje, Republic of North Macedonia;
• WHIM Syndrome with Partial Phenotype without hypoimmunoglobulinaemia and warts – Mironska Kristina¹, Stavrikj Katerina¹, Kareva Lidija¹, Hasani Arijeta¹, Marodi Laszlo², ¹ Department of immunology, University Clinic for Children`s Diseases, Skopje, R. Macedonia, ² Department of Infectious and Pediatric Immunology, Medical and Health Science Center, University of Debrecen, Hungary
• Two sisters with Cantu Syndrome and ovarian agenesis – A. Janchevska¹, Z. Guchev¹, V. Tasic¹, V. Ambarkova², O. Jordanova¹, E.C. Prott³. ¹University Children’s Hospital Skopje, Macedonia, ²Faculty of Dental Medicine, Skopje, Macedonia, ³Praxis fur Humangenetik, Wuppertal, Germany
• 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
• 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, North Macedonia
• Potocki-Lupski syndrome in a toddler with early behavioral disturbances – A. Janjikj^a, M. Chavkoska ^a, Z. Gucev^a,  M. Kostovski¹, Gj. Bozinovski^b, D. Plaseska-Karanfilska^b, V. Tasic^a, ^a 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 – I. Barbov¹, G. Kalcev¹, F. Stojkovska¹, G. Novotni^{1, 1}University Clinic for Neurology, Skopje, North Macedonia,
• Non – bullous congenital ichthyosiform erithroderma: case report – E. Zisovska¹ G. Kalcev¹ J. Misevski², ¹University Clinic for Gynecology and Obstetrics, Skopje, N. Macedonia.² Ministry of Health, Skopje, North Macedonia
• Dental management of patient with Von Willebrand disease  – V Ambarkova¹, J Nikolovska¹, A Janchevska², Jovanovska A², Ambarkov J^3, 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

• Prosthodontic solution of totally edentulous patient with Sjögren syndrome – Stavreva B¹,  Kapusevska ¹, J. Bundevska ¹, V. Korunoska Stefkovska ¹, N. Toseska Spasova ², V. Ambarkova^{3 1}Department of Prosthodontics, ²Orthodontics, ³Pediatric and Preventive Dentistry, Faculty of Dentistry, Skopje, North Macedonia,
• An adolescent with isolated hypoparathyroidism (IHPT) with hypomagnesemia – Kostovski M ¹ , Janjikj A ¹ , 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 RN Macedonia: results of a pilot study. S.Fustik¹, V. Atanasovska², A. Stamatova¹, L. Spirevska¹,  M. Pesevska², M. Terzikj³, D. Plaseska-Karanfilska³. ¹Department 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. V. Jovanovska,¹ D. Plaseska-Karanfilska,² M. Dimishkovska,² R. Kacarska,¹ K. Kuzevska Maneva,¹  B. Gjurkova Angelovska,¹ M. 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 Pediatric Surgery, Skopje, Republic of North Macedonia, ³ Clinical Hospital Adzibadem Sistina, Skopje, Republic of North Macedonia;
• Central hypothyroidism with pituitary enlargement and no gene alterations – D. Trajanova ^a, M. Vezenkoska ^a, Z. Gucev ^a, M. Krstevska-Konstantinova ^a, A. Janchevska ^a, ¹ Medical Faculty, Skopje, North Macedonia
• “Atypical” typical hemolytic-uremic syndrome – K. Dervishov, B. Teov, K. Bundovski, E. Sahpazova, N. Emini, University Children’s Hospital. Medical School, Skopje, Macedonia
• Postpartal depression with rare disease – case report – Lj. Damjanovikj¹, L. Trpeska-Poposka², ¹HPI-Skopje, Polyclinic Bit Pazar, ²HPI Skopje, Institute for Mental Health for Children and Youth
• Multi-cystic dysplastic kidney with complete prenatal resolution of the cysts – K. Bundovski, K. Dervishov, E. Sahpazova, N. Aluloska, University Children’s Hospital, Medical School Skopje, North Macedonia

14.00 – 15.00 Lunch and departure