Sindrom progeria
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Progeria, atau Hutchinson-Gilford Progeria Syndrome, adalah penyakit genetik yang menyebabkan penuaan pramatang dan kematian awal, biasanya pada usia 13 tahun. Penyakit ini disebabkan oleh mutasi pada gen LMNA yang menghasilkan bentuk protein abnormal (progerin) yang mempengaruhi struktur sel. Walaupun tiada penyembuhan, rawatan boleh membantu menguruskan simptom melalui perubatan, terapi fizikal, dan penjagaan harian.
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Sindrom progeria
- 3. 1886: Jonathan Hutchinson 1897: Hastings Gilford Hutchinson Gliford Progeria Syndrome Progeria Gene Discovered
- 4. Progeria Research Foundation http://www.progeriaresearch.org/meet_the_kids.html 89 kanak kanak : 32 negara
- 5. Definisi Yunani : (pro sebelum ) dan ( geras usia tua) Penuaan pramatang , bawa kematian pada kira kira umur 13 Tahun disebabkan strok Genetik yang jarang berlaku, di mana seseorang itu menyerupai aspek penuaan yang ditunjukkan pada usia awal Phenotype and Course of Hutchinson- Gilford Progeria Syndrome , Medical Science, MayoClinic.com
- 6. LMNA gen mengekod protein yang dipanggil prelamin A. Prelamin A mempunyai sekumpulan farnesyl melekat ke penghujungnya. Kumpulan Farnesyl masih kekal yang melekat kepada prelamin A. Bentuk tidak normal prelamin A dipanggil progerin. Progerin terikat dengan kukuh kepada rim nuklear. Nukleus berbentuk tidak normal. The Mutant Form of Lamin A that Cause Hutchinson-Gilford Progeria Is a Biomaker of Cellular Aging in Human Skin
- 7. kegagalan pertumbuhan botak rahang kecil kering, bersisik, kulit nipis pembentukan gigi lambat kehilangan lemak badan dan otot Learning About Progeria . National Genome Research Institute
- 8. Ciri Fizikal : pertumbuhan terbantut , kulit mengecut , botak , Progeria Research Foundation , Family tormented by ageing disease, incidence of Progeria
- 9. Alat Instrumen Pemeriksaan klinikal 1. Ukur ketinggian 2. Ukur berat 3. Merancang ukuran pada carta pertumbuhan 4. Menguji pendengaran dan penglihatan 5. Mengukur tekanan darah 6. Melihat kepada simptom umum progeria Ujian Genetik 1. Secara fizikal dikenalpasti sebagai tanda- tanda progeria 2. Berjumpa dengan pakar kaunselor genetik untuk pengesahan. 3. Menjalani ujian genetik di mana sampel darah di ambil 4. Keputusan keluar dalam masa 10 hari hingga 4 minggu The Progeria Handbook , National Institute of Health,
- 10. Tiada penyembuh bagi penyakit progeria Rawatan Perubatan: Statin : - Rendahkan kolestrol Penggunaan aspirin yang rendah : - Cegah serangan jantung dan strok Anticoagulants: - Cegah pembekuan darah Terapi fizikal : - Membantu masalah kekakuan sendi -Menjadikan kanak kanak kekal aktif Pengekstra kan gigi utama : - Lebihkan jumlah gigi apabila tahap pertumbuhan gigi tetap mula berlaku Farnesyltrans ferase inhibitors : - Terapi potensi - bertindak mengembalik an ketidakstabila n struktur nuclear disebabkan oleh mutasi genetic gen LMNA Progeria : Treatment (2008)
- 11. Penjagaan di Rumah dan Gaya Hidup Cukup minum air ( ketika cuaca panas + sakit ) Menu makanan yang sedikit tetapi kerap ( meningkatkan pengambilan kalori) Aktiviti yang sesuai untuk kanak kanak tersebut ( bincang dengan doktor beri peluang ) Kasut sesuai ( keselesaan apabila bermula kehilangan berat badan) Peluang pembelajaran ( datang sekolah seperti kanak kanak normal ) Mayo Clinic