Yenidoğanda Tandem-Mass Spektrometre ile Geniş Kapsamlı Kalıtsal Metabolik Hastalıkların Taranması
Expanded Newborn Screening for inborn Errors of Metabolism by Tandem Mass Spectrometry
Chairmen: Fatma Z. Kutay, Nezih Hekim
Kitle Tarama Testlerinin Uygulanışında Kalite Kontrolunun Önemi ve Kitle Tarama Verilerinde Referans Aralığının Saptanması
The Use of Split-Sample Design for Performance Evaluation of Screening Kits: A Real Life Study
Fetusta Biyokimyasal Tanı
Foetal Biochemistry: Biochemical Diagnosis for Foetus
Tartışma / Discussion
14:00 - 16:30
17:00 - 19:00
Panel : Türkiye'de Neonatal Tarama Politikası
Neonatal Screening Policy of Turkey
Chair: Uğur Dündar / Mine Özbek
Pınar T. Özand, İmran Özalp, Münip Üstündağ, Yahya Laleli, Mine Özbek
OCTOBER 14 , 2003 TUESDAY
Chairmen: Yahya Laleli, Tijen Tanyalçın
Amino Asit Metabolizması Bozukluğunda Kullanılan Metodlar ve Karşılaşılan Güçlükler
Amino Acid Analysis Methods-Details and Difficulties
The Use of Tandem Mass Spectrometry in Newborn Mass Screening Programs: The Facts Beyond the Myth
Chairmen: Aslan Aksu, Sema T. Ozan
Karbohidrat Metabolizması Hastalıkları: Klinik Yaklaşım, Teşhis ve Tedavide Laboratuvardan Beklentiler
Disorders of Carbohydrate Metabolism : Clinical Approach
Future Prospects of Diagnosis and Treatment
Karbohidrat Metabolizması Hastalıkları: Metodlar ve Karşılaşılan Güçlükler
Disorders of Carbohydrate Metabolism Basic Concepts, Evaluation of Laboratory Methods and Difficulties Observed
Tartışma / Discussion
Tour to Ephesus
OCTOBER 15, 2003 WEDNESDAY
Chairmen: Güldal Kırkalı, Hakan Aydın
Obesite, Polikistik Over ve İnsülin Direnci
Dsyregulation of P450C17 Enzyme in Polycystic Ovary Syndrome
Obesite: Nöral Mekanizmalar
Neuroendocrine System and Obesity
Obesite Bir İnflamasyon mudur?
Is Obesity an Inflammatory Disease ?
Tartışma / Discussion
Chairmen: Orhan Değer, Nezaket Eren
Hiperlipoproteinemiler ve Diğer Lipid Metabolizması Hastalıklar
Laboratory Diagnosis in Lipoprotein and Other Lipid Metabolism Disorders
Glikosfingolipidozlar: Hastalıktan Metabolizmanın Temel İlkelerine
The Glycosphingolipidoses: From Disease to Basic Principles of Metabolism
Department of Genetics, King Faisa Specialist
Hospital & Research Centre. PO Box 3354, Riyadh 11211, Saudi Arabia.
The objective of this presentation is to present the novel strategies adopted to prevent genetic diseases in Saudi Arabia. The genetic diseases either due to chromosome defects or to alterations in single gene structure produce infants with usually severe diseases.
The management of such disorders is: (A) usually costly due to the fact the morbidity lasts for many years, (B) not always successful and doesn’t always produce good results and (C) disrupts the normal family function. These diseases, particularly those inherited single gene disorders plague the communities with consanguineous marriages. Based on our experience in the Kingdom, we have adopted several strategies to combat this public health problem. The methods to combat genetic diseases include: (1) if nothing else is possible to perform a neonatal screening program for treatable diseases. This must be done within 2-3 days after birth. (2) Preimplantation diagnosis. Initially we have focused on six major single gene diseases of the country: MSUD, biopterin dependent PKU, homocystinuria, propionic acidemia, Niemann Pick disease type B and Gaucher disease type A. All of these diseases are either difficult to manage requiring the devotion of many clinical hours by the physician or their procedures of management or are extremely costly. (3) Premarital screening. Applying the mutations on a DNA chip and screening the extended family as well as population for carriers of these diseases. (4) Chromosome abnormalities to be studied by CGS (complete human genome screening) that can be applied to a newborn as well as in preimplantation efforts. This presentation will detail these approaches and our preliminary results.
The result with preimplantation intervention in an ataxia-telangiectasia family will be presented.
OCTOBER 13 , 2003 – MONDAY
MOLECULAR BASIS OF COLORECTAL CANCER IN THE REPUBLIC OF MACEDONIA
Aleksandar J DIMOVSKI1,2, Dijana Plaseska-Karanfilska 1), Ana-Marija STEFANOVSKA1,
Georgi D.EFREMOV 1)
1) Macedonian Academy of Sciences and Arts, Research Center for Genetic Engineering and Biotechnology
2) Institute for Pharmaceutical Chemistry, Faculty of Pharmacy, Skopje, Republic of Macedonia
Colorectal cancer (CRC) is one of the most common cancers and the second cause of death in developed countries. In addition to environmental factors, genetic predisposition has a significant role in the ethiopathogenesis of the disease. Apart from the two dominantly inherited syndromes (FAP and HNPCC) several low penetrance genes were implicated in the initiation of colorectal cancerogenesis. The aim of this study was to determine the molecular basis of FAP, the incidence of HNPCC and the frequency of polymorphisms in several low penetrance genes (I1307K and E1317Q in the APC gene, TRI(6A) and CCND1) associated with CRC. A total of 173 patients with CRC, of which six patients with multiple adenomatous polyposis, and a control group of 100 newborns and 100 aged individuals were included in this study. Out data indicate that FAP and HNPCC have relatively low frequency of 0.1% and <5%, respectively, in our population. Deletions of APC gene are relatively frequent in our patients with FAP. Also, we suggest that aberrant splicing of this gene is a probable mechanism in etiopathogenesis of the multiple adenomatous polyposis phenotype. Microsatellite instability was present in 13.4% of patients and was associated with absence of nodal infiltration, proximal localization, Dukes' A and B stage and mucionous histotype. No I1307K and E1317Q polymorphisms in the APC gene were detected among our patients. The frequency of the TRI(6A) polymorphism was identical among patients and controls thus excluding this variant as a tumor susceptibility allele in our population. A statistically significant difference in the frequency of the CCND1 polymorphism was found in the group of patients less than 60 years of age with MSI tumors, indicating that CCND1 polymorphism may influence the age at onset of colorectal cancer in young patients only when their tumors exhibit an MSI phenotype.