gaucher sunum 9 kas±m

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Slide 1

Dr. Ertan am

|www.genzyme.comErik Familial Hypercholesterolemia USA

Femurdaki Patolojik Deiikliklerin rnekleriHemorrajik nfarktlarNekrozKortikal Skleroz OsteosklerozKortikal kemik kaybErlenmeyer flask Deformitesi

Clinical Involvement

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Kaynak: ICGG Gaucher Registry, Mistry 2011

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5 Hematologtan sadece 1i Gaucher hastalnn 6 ortak iaret ve semptomlar bulunan hastada Gaucher hastalndan phelenmitir. LeukaemiaLymphomaMultiplMyelomGaucher HastalKronik granlosit lsemiKanama hastalCevap yokHekimlerin oran

0%10%20%30%40%50%60%70%80%90%100%Market Research: Gaucher's disease Awareness Amongst Hematologists, August 2005, Holden Pearmain, Ltd., N=406 : US 136, Canada 50, Brazil 50, Argentina 50, Spain 50, Japan 50, Australia 20Gaucher Hastal TehisiAyrc TanHekimlerin; 42 yanda erkek hastada anemi, trombositopeni, hepatomegali, splenomegali, akut kemik ars ve kronik kemik ars bulgular sonucu tanlar

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24Between June 15 and July 5, 2005, computer-assisted telephone interviews were conducted of Hematologists, Hematologists/Oncologists, Pediatric Hematologists, and Pediatric Hem/Oncs in practice for 3 30 years since completion of training and spending at least 60% of their time with patients in the clinic. Physicians in the U.S., Canada, Brazil, Argentina, Spain, Japan, and Australia were surveyed. To determine which medical conditions physicians associate with signs and symptoms typical of Gaucher disease, physicians were given six signs and symptoms experienced by a 42-year old male. In response to this constellation of symptoms, 18% of physicians considered Gaucher disease in their differential diagnosis. In contrast, alternative responses included leukemia (64%), lymphoma (37%), multiple myeloma (23%), chronic granulocytic leukemia (14%), and bleeding disorder (4%). 5% of respondents had no answer.

Bacterial DNAPlasmid

Culture Medium

Bacterium

Protein

CHO Host Cell

Rekombinant Glikoserobrosidazn retimi: CerezymeHuman glucocerebrosidase gene

33This slide illustrates the process of manufacturing a human protein using recombinant DNA technology. A plasmid (an extra-chromosomal DNA molecule that is separate from the chromosomal DNA and capable of replicating independently) is taken from a bacterium and a copy of the human gene for the target protein (in this case, the enzyme glucocerebrosidase) is inserted into that plasmid. The plasmid is then inserted into the nucleus of a host cell where it causes the host cell to produce the target protein. A variety of host cells are used to make human biologic medicines, but the most common cell type is the Chinese hamster ovary, or CHO, cell (other cells types include the E Coli bacteria, yeast cells, and human immortal (i.e., cancer) cells). The host cell excretes the target protein into the culture medium (the nutrient broth in which it is living). The target protein can then be harvested from the culture medium, collected and purified into the therapeutic enzyme.

>2 yl AVN nsidans Oran(Her 1,000 kii-yl)Avaskler nekrozun , tan ve Cerezyme a balamaya gre grlme oran