Congresul Balcanic de Boli Rare. Cluj Napoca, 26-27 iunie 2009

Vineri 26 iunie 2009

08:30 – 9:00 Înscriere

09:00-10:30 Deschidere

10:30-11:00 Pauză de cafea

11.0- 13.00 Masă rotundă
Moderatori: 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 Prânz

14:00-16:00 Workshopuri paralele
Moderatori: 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

Workshop 2. Treatment and rehabilitation
Chair. Dr. Ioana Rotaru & Prof. Dr. Daniel David

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

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

SYMPTOMS OF AUTISM SPECTRUM DISORDERS AND RARE DISEASES
Mihaela Virginia-Fazakas, psychologist; Baican Cosmina, special education teacher

Workshop 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;

Workshop 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 Pauză de cafea

16:30-18:30 Masă rotundă
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…

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 Dineu festiv

 

Sâmbătă 27 inuie 2009

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

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

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;

Bulgarian National Plan for Rare Diseases
Tomov V.; National Alliance of People with Rare Diseases – Bulgaria

NATIONAL PLAN FOR RARE DISEASES in Romania
Dorica Dan, Maria Puiu, Cristina Skrypnyk, Victor Pop;

10:30-11:00 Pauză de cafea

11.00-13.00
PROBLEMS ENCOUNTERED IN DIAGNOSIS AND MANAGEMENT OF THE RARE DISEASES IN BALKAN AREA
Chair. Dr. Cristina Rusu, Iasi NATIONAL CENTER
Pop L1., Popa I, Z.Popa2 1. Clinic II Pediatrics, University of Medicine and Pharmacy Timisoara; Timisoara National Cystic Fibrosis Center;

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;

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

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 Prânz

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.)

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

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

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

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

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

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

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.

“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 Pauză de cafea

Concluzii 

 

Duminică 28 iunie 2009

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

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;

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;

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

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

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;

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

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

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

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

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

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

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

ASSOCIATION “INIMA COPIILOR” Campina, Romania
Doina Popa

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

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

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

WERDNIG HOFFMAN ASSOCIATION
Veres Robert

Asociaţia Williams Syndrome România
Camelia Lazar, Bucuresti

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

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

DNA METHYLATION, BIOMARKER IN EARLY CANCER DETECTION
Dumache Raluca, Puiu Maria, University of Medicine and Pharmacy “Victor Babes”, Timisoara, Romania, rdumache@hotmail.com

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

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 ,

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

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

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

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

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

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

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

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

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

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

What to do when you are a lonely patient?
Mini Debra Association Erika Burciu- president