Program Balcanic Congres for Rare Disease, Cluj-Napoca

Posted: June 17, 2009 by mihaiela in conferinte, Evenimente APWR, simbotour
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PRECONGRESS WORKSHOP AND TRAINING – ORGANIZATIONAL DEVELOPMENT
Project manager – 3 days training course, Rare Diseases Solidarity Project funded by CEE Trust

Day 1- FRIDAY 26 JUNE 2009

08:30 – 9:00 REGISTRATION

09:00-10:30 OPENING OF THE CONFERENCE
Expected speeches by the Minister of Health of Romania , Local Authorities, Rector of the Medical University of Cluj- Napoca, Orphanet Europe, Eurordis, European Commission, RONARD
Ceremony Honoring Prof. Dr. Segolene Ayme – France as a Visiting Professor of the Medical University Iuliu Hatieganu

10:30-11:00 COFFEE BREAK

11.0- 13.00 PANEL SESSION: Co –chairs: Prof. Dr. Segolene Ayme, ORPHANET & Antoni Montserrat Moliner – European Commission
EU Policy on RD and services to patients
“European Policy regarding Rare Diseases: where do we stand ?” – Antoni Montserrat Moliner
European Commission

“Services to patients in Europe in the field of rare Diseases: where do we stand ?”
– Prof. Dr. Segolene Ayme, ORPHANET
EU Initiatives to improve the access to care, Anders Olauson, president European Patient Forum
Wills-Hughes Wilson, Senior Director Health Policy Europe, Genzyme

13:00 – 14:00 LUNCH

14:00-16:00 PARALEL WORKSHOPS
Co –chairs: Prof. Pop Victor SRGM, Dr. Cristina Vladu;

NEEDS ASSESMENT IN THE FIELKD OF THE RD

Workshop 1. Diagnosis and screening – chair Dr. Cristina Skrypnyk, Prof. Dr. Maria Puiu

The role of the medical geneticist in the management team of rare disorders”; Dr. Cristina Skrypnyk UMF Oradea;

Diagnosis and management of patients with mental retardation and multiple congenital anomalies – Iaşi Medical Genetics Center’s experience; Cristina Rusu (1), M. Voloşciuc (1), E. Braha (1), L. Butnariu (1), M. Pânzaru (1), R. Popescu (1), L. Caba (1), I. Ivanov (2), V. Gorduza (2), M. Covic (1); Medical Genetics Centre, “Sf Maria” Children’s Hospital, Iaşi, Romania; Immunology and Genetics Lab, “Sf Spiridon” Hospital, Iaşi, Romania;

POSSIBILITIES OF AVOIDING DIAGNOSTIC DELAYS AND IMPROVING EFFICIENT RARE DISEASE MANAGEMENT – THE EXPERIENCE WITH LYSOSOMAL STORAGE DISORDERS; Csep K., University of Medicine and Pharmacy – Tg. Mures, Romania;

THE CORRELATION OF GENETIC MARKERS WITH ANATOMOCLINICAL AND HISTOPATHOLOGICAL FORMS IN HIRSCHSPRUNG’S DISEASE; Broască M. V.1, Ciobotaru C.1, Dimofte I.1, Aşchie M.1, Prună A.2, Broască M. A.1 Severin B.1, 1Faculty of Medicine, “Ovidius” University Constanta, Romania, 2 Clinical County Emergency Hospital Constanta, Romania

ALPORT SYNDROME: A CHALLANGING DIAGNOSIS IN CLINICAL PRACTICE; C Spânu1), C Crăciun2), I Kacso1), M Crăciun1), P Florescu3), E Bodurian4), S Spânu1), and M Gherman-Căprioară1); 1)Univ Med Pharm „I Haţieganu” , Dept Nephrology, Cluj, Romania;2) Univ Babeş-Bolyai, Electron Microscopy Center, Cluj, Romania; 3)Univ Med Pharm „I Haţieganu”, Dept Pathology, Cluj, Romania; 4)Hospital of Odorheiu Secuiesc, Romania

2. Treatment and rehabilitation – chair. Dr. Ioana Rotaru & Prof. Dr. Daniel David

1. COUNSELING PSYCHOLOGIST IN THE “POST-GENOMIC AGE” – INTERDISCIPLINARY SOLUTIONS FOR GENETIC COUNSELING COMPETENCES IN ROMANIA; David D., Moldovan M. and Rusu A.S.; Department of Clinical Psychology and Psychotherapy, Babes-Bolyai University, Cluj-Napoca, Romania;
2. Rehabilitation; when and where? Dr. Ioana Rotaru, Center for Treatment and Rehabilitation Acasa, Zalau.
ANOTHER BIOTECH ORPHAN DRUG CLOSE TO REGULATORY APPROVAL; Moldovan D, Mihaly E. University of Medicine and Pharmacy Tîrgu Mures, Romania;

4. Department of Immunology and Histocompatibility; School of Medicine – University of Thessaly, Larissa, Greece
5. SYMPTOMS OF AUTISM SPECTRUM DISORDERS AND RARE DISEASES, Mihaiela Virginia-Fazacas, psychologist; Baican Cosmina, special education teacher

3. Social services- MMSSF

Presentation of the posters from RONARD members / AVAILABLE SOCIAL SERVICES IN ROMANIA; (10 presentations)
What to do when you are a unique patient with RD?
BBBS – APWR, Voluntaring for RD Tm;

4. Education and Research – Prof. Dr. Victor Pop & Dr. Cristina Vladu
1. Rare Diseases, a public health problem; Cristina Vladu, M.D, M.A.
2. “Mechanisms and assays for rare genomic disorders”, Dr. Cristina Skrypnyk UMF Oradea
3. Debate: project proposals in Balkan area? How can be developed?
4. Christel Nourissier EURORDIS;
5. FormRare – a project initiated by RPWA; Amalia Sabau & Porumb Darius; itiatives

16:00-16:30
COFFEE BREAK

16:30-18:30 PANEL SESSION ; Christel Nourissier- Chair, EURORDIS
Panel discussions regarding the actions undertaken in Balkan area in order to define a national policy on Rare Diseases
– Invited speakers: Representatives of the Ministry of Health & different stakeholders from each country: Romania, Hungary, Croatia, Serbia…

PARALEL WORKSHOP “Nu-i lasati sa lupte singuri !” A campaign for Anti Parkinson Association

18:30-19:00
Report of the results in the plenary session.

19:00 GALA DINNER

09:00-10:30

Day 2- SATURDAY 27 JUNE 2009

BEST PRACTICE AND COOPERATION – Co-chairs: Prof. Dr. Grigorescu Sido, Prof. Dr. Pop Victor;

1. Partnership Norwegian Romanian (NoRo ) for Progress in RD – Dorica Dan & Dr. Maria Puiu RONARD2.Ifrom Balkan countri

2. NETWORK APPROACH OF THE MANAGEMENT OF PWS AND ANGELMAN, ROMANIAN EXPERIENCE – Maria Puiu1, Natalia Cucu2, Gabriela Anton3 , Dorica Dan4 , Calin Popoiu5, Valerica Belengeanu1, Monica Stoian1, Cristina Rusu 6, Victor Pop7, Corin Badiu8; 1. University of Medicine and Pharmacy “Victor Babes” of Timisoara, 2. University of Bucharest, 3. Institute of Virusology “Stefan Nicolau” Bucharest, 4. Prader-Wlilli Association in Romania, 5. Clinical Hospital of Emergency for Children “L. Turcanu” Timisoara, 6. University of Medicine and Pharmacy “T. Popa” Iasi, 7. University of Medicine and Pharmacy “I. Hatieganu” Cluj- Napoca, 8. National Institute of Endocrinology “C. I. Parhon” Bucharest;

3. Bulgarian National Plan for Rare Diseases- Tomov V.; National Alliance of People with Rare Diseases – Bulgaria;
4. NATIONAL PLAN FOR RARE DISEASES in Romania, Dorica Dan, Maria Puiu, Cristina Skrypnyk, Victor Pop;

10:30-11:00 COFFEE BREAK

11.00-13.00 PROBLEMS ENCOUNTERED IN DIAGNOSIS AND MANAGEMENT OF THE RARE DISEASES IN BALKAN AREA – chair. Dr. Cristina Rusu, Iasi

1.NATIONAL CENTER; Pop L1., Popa I, Z.Popa2 1. Clinic II Pediatrics, University of Medicine and Pharmacy Timisoara; Timisoara National Cystic Fibrosis Center;

2. DIAGNOSIS AND SCREENING IN RARE DISEASES IN ROMANIA Maria Puiu1, Dorica Dan2, Cristina Skrypnyk3, Margit Serban1 ; Monica Stoian 1.University of Medicine and Pharmacy “Victor Babes”, Timisoara, 2. Romanian National Aliance of Rare Diseases, Zalau, 3. Medical genetics, Faculty of Medicine, Oradea, Romania;

3. THE PRESENT HUNGARIAN SITUATION ON THE AREA OF RARE DISEASES FROM THE PATIENTS’ POINT OF VIEW- Pogány G. Rare Diseases Hungary (HUFERDIS), Budapest, Hungary;

4. HOW TO FIT A GIANT INTO SMALL SHOES?
– On how people suffering from rare diseases live in Croatia-
Skulic, V., Mrsic M., Bijelic N. The Croatian Society of Patients with Rare Diseases

13.00-14.00 LUNCH

14:00-17:00 RARE DISEASES MANAGEMENT- co chairs-Dr. Gabor Pogany & Dr. Aurelia Szekely

Interdisciplinary approach in management of the RD (CROMOZOMIAL, METABOLIC, NEUROLOGICAL, ENDOCRINE, etc.)

1. EVOLUTION OF TYPE 1 GAUCHER DISEASE PATIENTS TREATED WITH IMIGLUCERAS; P.G.Sido1), C.Al-Khzouz1), C.Drugan2), C.Denes1), S.Bucerzan1), C.Coldea1), 1) Genetic Diseases Center, Emergency Children Hospital Cluj, 2) Biochemistry Department, “Iuliu Hatieganu” University of Medicine and Pharmacy Cluj

2. A PILOT REFERENCE CENTRE FOR HEREDITARY ANGIOEDEMA IN ROMANIA; Moldovan D, Mihaly E., University of Medicine and Pharmacy Tîrgu Mures, Romania;

3. Rare Diseases in medical practice, Dr. Anna Tylki-Szymanska, Poland;

4. RARE DISEASES IN GREECE: EXPERIENCE OF A REFERRAL CENTER – Speletas M, Germenis AE; Department of Immunology & Histocompatibility, School of Medicine, University of Thessaly, Larissa, Greece

5. LIVING WITH POMPE DISEASE – SHARING EXPERIENCE, Maryze Schoneveld van der Linde, MA, Netherland ;

6. “25 years of experience in diagnosis and management of rare genetics disorders- Oradea Genetics Unit, Romania”- Marius Bembea, Cristina Skrypnyk, Claudia Jurca, Kinga Kozma;

7. FABRY DISEASE: RESULTS OF ENZYME REPLACEMENT THERAPY WITH AGALSIDASE BETA ; C Spânu1), C Drugan2), C Niţă1), S Spânu1), C Crăciun3), M Radu4), V Todea5), and M Gherman-Căprioară1); 1) Univ Med Pharm „I Haţieganu”, Dept Nephrology, Cluj, Romania; 2) Univ Med Phrm „I Haţieganu”, Dept Biochemistry, Cluj,Romania; 3)Univ „Babeş-Bolyai”, Electron Microscopy Center, Cluj, Romania; 4) Hospital of Câmpia Turzii, Câmpia Turzii, Romania;5) County Hospital of Cluj, Dept Ophtalmology, Cluj, Romania.

8. “Genetic approach of patients with microdeletion syndromes”- Conf. dr. Eusebiu Vlad Gorduza, Medical Genetics Department, “Gr. T. Popa” University of Medicine and Pharmacy Iasi Asist. univ. dr. Cristina Skrypnyk, Medical Genetics Department, University of Oradea;

17.00 – 17.30 COFFEE BREAK

Closing remarks

Day 3- Sunday, 28 June 2009e

Meeting of the Rare Diseases Task Force – Project: Partnership Norwegian Romanian (NoRo) for Progress in Rare Diseases, a project funded by Innovation Norway;

POSTER SESSION:

1. DIAGNOSIS AND TREATMENT POSSIBILITES IN MUCOPOLYSACCHARIDOSES
Al-Khzouz1) C.,Grigorescu-Sido P1)., Drugan C.2), Bucerzan S.1), Crişan M.1), Lazea C.1), Denes C.1) 1)First Pediatric Clinic; 2) Biochemisty Departament – University of Medicine and Pharmacy. „Iuliu Haţieganu” Cluj , Romania;
2. EVOLUTION OF TYPE 1 GAUCHER DISEASE PATIENTS TREATED WITH IMIGLUCERASE
P.G.Sido1), C.Al-Khzouz1), C.Drugan2), C.Denes1), S.Bucerzan1), C.Coldea1)
1) Genetic Diseases Center, Emergency Children Hospital Cluj, 2) Biochemistry Department, “Iuliu Hatieganu” University of Medicine and Pharmacy Cluj;

3. PATAU PHENOTYPE VERSUS PATAU-LIKE PHENOTYPE
Authors: Belengeanu V., Stoicanescu D., Farcas S., Popa C., Stoian M., Andreescu N.
Department of Medical Genetics, University of Medicine and Pharmacy “Victor Babes” of Timisoara
E-mail: belvtim@yahoo.com

4. OROFACIODIGITAL SYNDROME – CLINICAL DIAGNOSTIC AND RADIOLOGICAL REVIEW, Andreescu N.¹, Belengeanu V.¹, Stoicanescu D.¹, Farcas S.¹, Popa C.¹, Stoian M.¹, Belengeanu D.², ¹Department of Medical Genetics, University of Medicine and Pharmacy “Victor Babes” of Timisoara, Romania, ²Department of Orthodontics, University of Medicine and Pharmacy “Victor Babes” of Timisoara, Romania, E-mail: nicollandreescu@yahoo.com

5. THE RESULTS OF BISPHOSPHONATES TREATMENT IN OSTEOGENESIS IMPERFECTA
Bucerzan S., Grigorescu-Sido P., Al-Khzouz C., Crisan M., Denes C.L., Bolca D, First Pediatric Clinic – University of Medicine and Pharmacy “Iuliu Hatieganu” Cluj, Romania, e-mail: bucerzansimona@yahoo.com;

6. GENETIC SYNDROMES WITH CHARACTERISTIC PHENOTYPIC MARKERS REGISTERED AT THE CENTRE OF GENETIC DISEASES CLUJ, Crisan M1), Militaru M2), Drugan C3), Denes C1), Al-Khzouz C,1) Bucerzan S,1) Grigorescu-Sido P1)
1)“ Axente Iancu” First Pediatric Clinic – UMF” Iuliu Hatieganu “– Cluj Napoca Romania, 2) Medical Genetics Departament –UMF” Iuliu Hatieganu “– Cluj Napoca Romania, 3) Biochemistry Department – UMF” Iuliu Hatieganu “– Cluj Napoca Romania

7. SYMPTOMS OF AUTISM SPECTRUM DISORDERS AND RARE DISEASES, Mihaiela Virginia-Fazacas, psychologist; Baican Cosmina, special education teacher

8. ROMANIAN MYASTHENIA GRAVIS ASSOCIATION – WHO WE ARE, Radulescu N., Baragan M., Dimian S., Nutu G., Mihai C,. Harja A, Romanian Myasthenia Gravis Association, Bucharest, Romania, Email: asociatia.miastenia@gmail.com

9. PATTERNS OF ECTRODACTYLY – PRESENTATION OF 6 CASES
Authors: Popa C.¹, Belengeanu V.¹, Stoicanescu D.¹, Farcas S.¹, Stoian M.¹, Andreescu N.¹, Belengeanu A.²
¹Department of Medical Genetics, University of Medicine and Pharmacy “Victor Babes” of Timisoara, Romania
²Department of Cellular and Molecular Biology, University of Medicine and Pharmacy “Victor Babes” of Timisoara, Romania
E-mail: popa_cristina1979@yahoo.com

10.DIAGNOSTIC POSSIBILITIES IN GROWTH HORMONE DEFICIENCY
1)Lazea C., 2)Grigorescu-Sido P., 2)Al-Khzouz C., 2)Bucerzan S., 1)Cret V., 1)Crisan M., 1)Denes C.L., 1)Zanc S, 1) First Pediatric Department, Emergency Children Hospital Cluj, 2) Genetic Diseases Center, Emergency Children Hospital Cluj, Email: cicilazearo@yahoo.com

11. GENETIC SYNDROMES WITH CHARACTERISTIC PHENOTYPIC MARKERS REGISTERED AT THE CENTRE OF GENETIC DISEASES CLUJ, Crisan M1), Militaru M2), Drugan C3), Denes C1), Al-Khzouz C,1) Bucerzan S,1) Grigorescu-Sido P1),, 1)“ Axente Iancu” First Pediatric Clinic – UMF” Iuliu Hatieganu “– Cluj Napoca Romania, 2) Medical Genetics Departament –UMF” Iuliu Hatieganu “– Cluj Napoca Romania, 3) Biochemistry Department – UMF” Iuliu Hatieganu “– Cluj Napoca Romania

12. PRIMARY INTESTINAL LYMPHANGIECTASIA CASE SOLVED WITH DIET, Szilágyi A., Ritli L., Sava C., Seiche M., Balmoş A., Szilágyi G, Faculty of Medicine, Oradea, Romania, gyuri_dodo@yahoo.com

13. ASSOCIATION “INIMA COPIILOR” Campina, Romania, Doina Popa
11. HUMERAL INVOLVEMENT IN GAUCHER DISEASE.CASE REPORT, Denes C.L., Cret V., Grigorescu-Sido P- Clinica Pediatrie I “Axente Iancu”, Cluj-Napoca, Romania, carmendenes@yahoo.com

14. Romanian Thalassaemia Association- A HAND TO HELP A HOPE FOR LIFE

15. SUPERNUMERARY TEETH ASSOCIATED WITH MONOGENIC, Emilia Severin, Crenguta Albu, Dinu Albu, Dragos Stanciu, “Carol Davila” University of Medicine and Pharmacy Bucharest – Romania, E-mail to: severin@cis.ro

16. WERDNIG HOFFMAN ASSOCIATION – Veres Robert

17. Asociaţia Williams Syndrome România, Camelia Lazar, Bucuresti

18. CHONDRODYSPLASIA – CASE REPORTS AND REVIEW OF LITERATURE
Authors: Farcas S.¹, Belengeanu V.¹, Stoian M.¹, Andreescu N.¹, Belengeanu A.², Icma D.³
¹Department of Medical Genetics, University of Medicine and Pharmacy “Victor Babes” of Timisoara, Romania
²Department of Cellular and Molecular Biology, University of Medicine and Pharmacy “Victor Babes” of Timisoara, Romania
³Department of Neonatology, Clinical Hospital No 5, Timisoara, Romania
E-mail: sfarcas2004@yahoo.com

19. SYNDROMIC CRANIOSYNOSTOSIS – CASE REPORTS AND REVIEW OF LITERATURE
Authors: Stoian M.¹, Belengeanu V.¹, Stoicanescu D.¹, Farcas S.¹, Popa C.¹, Andreescu N.¹, Belengeanu D.²
¹Department of Medical Genetics, University of Medicine and Pharmacy “Victor Babes” of Timisoara, Romania, ²Department of Orthodontics, University of Medicine and Pharmacy “Victor Babes” of Timisoara, E-mail: monistoian@yahoo.com

20. DNA METHYLATION, BIOMARKER IN EARLY CANCER DETECTION

Dumache Raluca, Puiu Maria, University of Medicine and Pharmacy “Victor Babes”, Timisoara, Romania, rdumache@hotmail.com

21. PRIMARY INTESTINAL LYMPHANGIECTASIA CASE SOLVED WITH DIET, Szilágyi A., Ritli L., Sava C., Seiche M., Balmoş A., Szilágyi G, Faculty of Medicine, Oradea, Romania
22. Rare disease treated with orphan drug – Glivec Treatment in Chronic Myeloid Leukemia , Cristina Gug1,2, Maria Chevereşan3, L. Chevereşan3 , Rodica Mihăescu4, Mihaela Delamarian3, Ioana Ioniţă3, Anca Isac 3, Hortensia Ionita3, V. Dumitraşcu5, Ada Bălan6 ,

23. RARE ASSOCIATION BETWEEN TURNER PHENOTYPE AND BETA THALASSEMIA MINOR, D. Stoicanescu, V. Belengeanu, S. Farcas, A. Belengeanu
University of Medicine & Pharmacy „Victor Babes”, Timisoara, Romania, dstoicanescu@yahoo.com

24. A practical approach to genetic testing in hemophilia A
Emilia C. Ursu, Margit Serban, Laura Pop, Delia Mihailov, Mihai Gafencu, Estera Boeriu, Maria Cucuruz, Maria Puiu, University of Medicine and Pharmacy Victor Babes Timisoara, Emergency Children Hospital “Louis Turcanu” Timisoara

25. DIAGNOSTIC AND EVALUATION OF PATIENTS WITH STIFF PERSON SYNDROME (SPS)
Maria Pop, Delia Mihailov, Tamara Marcovici, Vlad David, Maria Puiu,
University of Medicine and Pharmacy “Victor Babes”, Timisoara

26. NETWORK APPROACH OF THE MANAGEMENT OF PWS AND ANGELMAN, ROMANIAN EXPERIENCE
Maria Puiu1, Natalia Cucu2, Gabriela Anton3 , Dorica Dan4 , Calin Popoiu5, Cristina Rusu 6, Victor Pop7, Corin Badiu8 , Vlad David1

27. Scoliosis in patients with Prader-Willi Syndrome
Popoiu MC1, David VL2, Boia ES1, Maria Puiu1
1 University of Medicine and Pharmacy “Victor Babes” Timisoara, Romania
2 Emergency Children Hospital “Louis Turcanu” Timisoara, Romania

28. Bariatric surgery in patients with Prader-Willi Syndrome
David VL1, Popoiu MC2, Boia ES2, Maria Puiu2
1 Emergency Children Hospital “Louis Turcanu” Timisoara, Romania
2 University of Medicine and Pharmacy “Victor Babes” Timisoara, Romania

29. Surgical pathology in patients with cystic fibrosis
Popoiu MC1, David VL2, Boia ES1, Pop L1,Maria Puiu1
1 University of Medicine and Pharmacy “Victor Babes” Timisoara, Romania
2 Emergency Children Hospital “Louis Turcanu” Timisoara, Romania

30. Plurimalformative syndrome – case report
Vasilie D1, David VL2, Maira Puiu1, 1 University of Medicine and Pharmacy “Victor Babes” , 2 Emergency Children Hospital “Louis Turcanu” Timisoara, Romania

31. Rare, severe and invalidating kaposiform hemangioendothelioma complicated with Kasabach-Merritt Syndrome and heart failure
G. Doros, M. Gafencu, B. Zoica, J. Puiu
IIIrd Pediatric Clinic, University of Medicine and Pharmacy ”Victor Babes” Timisoara

32. Medullary cystic kidney disease (nephronophthisis) in twins
M Gafencu, R Costa, G Doros, M J Puiu, A Bizo*, M Lucan**
Universitatea de Medicina si Farmacie V. Babes Timisoara (Emergency Children Hospital Timisoara), * Clinica 2 Pediatrie Cluj Napoca, ** Institutul de urologie si transplant renal Cluj Napoca, Romania

33. What to do when you are a lonely patient?

34. Mini Debra Association, Erika Burciu- president;

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Comments
  1. your blog very beautiful. thanks for the myasthenia gravis article, very helpful for me..

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