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Genetic Eye Diseases.
Myopia in Children

Dr. Dominique Bremond-Gignac
ื“"ืจ ื“ื•ืžื™ื ื™ืง ื‘ืจืžื•ืŸ-ื–'ื™ื ื™ืืง. ืจื•ืคืืช ืขื™ื ื™ื™ื ื•ืžื•ืžื—ื™ืช ืœืžื—ืœื•ืช ืขื™ื ื™ื™ื ื ื“ื™ืจื•ืช. ืงื•ืจื•ืช ื—ื™ื™ื. 0
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1. ื“"ืจ ื“ื•ืžื™ื ื™ืง ื‘ืจืžื•ืŸ-ื–'ื™ื ื™ืืง. ืจื•ืคืืช ืขื™ื ื™ื™ื ื•ืžื•ืžื—ื™ืช ืœืžื—ืœื•ืช ืขื™ื ื™ื™ื ื ื“ื™ืจื•ืช. ืงื•ืจื•ืช ื—ื™ื™ื. 0

ืžื•ืžื—ื™ืช ืžื•ื‘ื™ืœื” ื‘ืื•ืคืชืœืžื•ืœื•ื’ื™ื” ื™ืœื“ื™ื ื•ืžื—ืœื•ืช ืขื™ื ื™ื™ื ื ื“ื™ืจื•ืช, ื“"ืจ ื“ื•ืžื™ื ื™ืง ื‘ืจืžื•ืŸ-ื–'ื™ื ื™ืืง, MD, ืžืกื‘ื™ืจื” ืขืœ ื’ื™ืฉื•ืช ืžื•ื“ืจื ื™ื•ืช ืœื‘ืขื™ื•ืช ืจืื™ื™ื” ื‘ื™ืœื“ื•ืช ื›ื•ืœืœ ืžื ื™ืขืช ืงื•ืฆืจ ืจืื™ื™ื”, ืกื™ื›ื•ื ื™ ืžืืžืฅ ืขื™ื ื™ื™ื...

ืงื•ืฆืจ ืจืื™ื™ื” ื‘ื™ืœื“ื™ื. ื ื™ื•ืื ืกื™ื ื‘ื˜ื™ืคื•ืœ: ืžืฉืงืคื™ื™ื, ืขื“ืฉื•ืช ืžื’ืข, ืื˜ืจื•ืคื™ืŸ. 1
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2. ืงื•ืฆืจ ืจืื™ื™ื” ื‘ื™ืœื“ื™ื. ื ื™ื•ืื ืกื™ื ื‘ื˜ื™ืคื•ืœ: ืžืฉืงืคื™ื™ื, ืขื“ืฉื•ืช ืžื’ืข, ืื˜ืจื•ืคื™ืŸ. 1

ืžื•ืžื—ื™ืช ืžื•ื‘ื™ืœื” ื‘ืื•ืคืชืœืžื•ืœื•ื’ื™ื” ื™ืœื“ื™ื, ื“"ืจ ื“ื•ืžื™ื ื™ืง ื‘ืจืžื•ืŸ-ื–'ื™ื ื™ืืง, MD, ืžืกื‘ื™ืจื” ืขืœ ืืกื˜ืจื˜ื’ื™ื•ืช ืžื•ื“ืจื ื™ื•ืช ืœืื‘ื—ื•ืŸ ื•ื˜ื™ืคื•ืœ ื‘ืงื•ืฆืจ ืจืื™ื™ื” ื‘ื™ืœื“ื™ื, ืชื•ืš ื”ื“ื’ืฉืช ืคืชืจื•ื ื•ืช ื—ื“ืฉื ื™ื™ื ื›ืžื• ืžืฉืงืคื™ื™ื ืžื™ื•ื—ื“ื™ื, ืขื“ืฉื•ืช...

ืื˜ืจื•ืคื™ืŸ ืœืงื•ืฆืจ ืจืื™ื™ื” ื‘ื™ืœื“ื™ื. ืžืชื™ ืœื”ืชื—ื™ืœ? ื›ื™ืฆื“ ืœื”ืฉืชืžืฉ ื‘ืื˜ืจื•ืคื™ืŸ?
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3. ืื˜ืจื•ืคื™ืŸ ืœืงื•ืฆืจ ืจืื™ื™ื” ื‘ื™ืœื“ื™ื. ืžืชื™ ืœื”ืชื—ื™ืœ? ื›ื™ืฆื“ ืœื”ืฉืชืžืฉ ื‘ืื˜ืจื•ืคื™ืŸ?

ืžื•ืžื—ื™ืช ืžื•ื‘ื™ืœื” ื‘ืื•ืคืชืœืžื•ืœื•ื’ื™ื” ื™ืœื“ื™ื, ื“"ืจ ื“ื•ืžื™ื ื™ืง ื‘ืจืžื•ืŸ-ื–'ื™ื ื™ืืง, MD, ืžืกื‘ื™ืจื” ื›ื™ืฆื“ ื˜ื™ืคื•ืช ืขื™ื ื™ื™ื ืฉืœ ืื˜ืจื•ืคื™ืŸ ื‘ืžื™ื ื•ืŸ ื ืžื•ืš ืžื”ื•ื•ืช ื˜ื™ืคื•ืœ ืจืืฉื•ื ื™ ืœื”ืื˜ืช ื”ืชืงื“ืžื•ืช ืงื•ืฆืจ ืจืื™ื™ื” ื‘ื™ืœื“ื™ื. ื”ื™ื...

ื“ืœืงืช ื”ืœื—ืžื™ืช ื”ืืœืจื’ื™ืช ื•ื˜ื™ืคื•ืœ ื‘ื“ืœืงืช ื”ืœื—ืžื™ืช ื”ืื‘ื™ื‘ื™ืช. ื˜ื™ืคื•ืช ืขื™ื ื™ื™ื ืกื˜ืจื•ืื™ื“ื™ื•ืช ื•ื˜ื™ืคื•ืช ืขื™ื ื™ื™ื ืฆื™ืงืœื•ืกืคื•ืจื™ืŸ. 3
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4. ื“ืœืงืช ื”ืœื—ืžื™ืช ื”ืืœืจื’ื™ืช ื•ื˜ื™ืคื•ืœ ื‘ื“ืœืงืช ื”ืœื—ืžื™ืช ื”ืื‘ื™ื‘ื™ืช. ื˜ื™ืคื•ืช ืขื™ื ื™ื™ื ืกื˜ืจื•ืื™ื“ื™ื•ืช ื•ื˜ื™ืคื•ืช ืขื™ื ื™ื™ื ืฆื™ืงืœื•ืกืคื•ืจื™ืŸ. 3

ืžื•ืžื—ื™ืช ืžื•ื‘ื™ืœื” ื‘ืื•ืคืชืœืžื•ืœื•ื’ื™ื” ื™ืœื“ื™ื, ื“"ืจ ื“ื•ืžื™ื ื™ืง ื‘ืจืžื•ืŸ-ื–'ื™ื ื™ืืง, MD, ืžืกื‘ื™ืจื” ืขืœ ื˜ื™ืคื•ืœื™ื ื™ืขื™ืœื™ื ื‘ื“ืœืงืช ื”ืœื—ืžื™ืช ืืœืจื’ื™ืช ื•ืฆื•ืจื•ืชื™ื” ื”ื—ืžื•ืจื•ืช, ืžืคืจื˜ืช ืืช ื”ืกื™ื›ื•ื ื™ื ืฉื‘ื˜ื™ืคื•ืช ืขื™ื ื™ื™ื ื›ืจื•ื ื™ื•ืช ืฉืœ ืกื˜ืจื•ืื™ื“ื™ื...

ืืคืฉืจื•ื™ื•ืช ื˜ื™ืคื•ืœ ื‘ื™ื•ื‘ืฉ ื‘ืขื™ื ื™ื™ื. ื“ืžืขื•ืช ืžืœืื›ื•ืชื™ื•ืช, ื“ื™ืงื•ื•ืืคื•ืกื•ืœ, ื˜ื™ืคื•ืช ืขื™ื ื™ื™ื ืฆื™ืงืœื•ืกืคื•ืจื™ืŸ. 4
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5. ืืคืฉืจื•ื™ื•ืช ื˜ื™ืคื•ืœ ื‘ื™ื•ื‘ืฉ ื‘ืขื™ื ื™ื™ื. ื“ืžืขื•ืช ืžืœืื›ื•ืชื™ื•ืช, ื“ื™ืงื•ื•ืืคื•ืกื•ืœ, ื˜ื™ืคื•ืช ืขื™ื ื™ื™ื ืฆื™ืงืœื•ืกืคื•ืจื™ืŸ. 4

ืžื•ืžื—ื™ืช ืžื•ื‘ื™ืœื” ื‘ืจืคื•ืืช ืขื™ื ื™ื™ื ื•ืžื—ืœื•ืช ื™ื•ื‘ืฉ ืขื™ื ื™, ื“"ืจ ื“ื•ืžื™ื ื™ืง ื‘ืจืžื•ืŸ-ื–'ื™ื’ื ืืง, MD, ืžืกื‘ื™ืจื” ื›ื™ืฆื“ ืชืกืžื•ื ืช ื™ื•ื‘ืฉ ืขื™ื ื™ื™ื ื›ืจื•ื ื™ืช ื”ื™ื ืžืฆื‘ ื“ืœืงืชื™ ืžื•ืจื›ื‘ ื”ื“ื•ืจืฉ ื˜ื™ืคื•ืœื™ื ืžืชืงื“ืžื™ื ืžืขื‘ืจ...

ืจื˜ื™ื ื•ืคืชื™ื” ืฉืœ ืคื’ื•ืช: ืžื ื™ืขื”, ื˜ื™ืคื•ืœ ื•ืคืจื•ื’ื ื•ื–ื”. ื ื™ืชื•ื— ืขื™ื ื™ื™ื. 5
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6. ืจื˜ื™ื ื•ืคืชื™ื” ืฉืœ ืคื’ื•ืช: ืžื ื™ืขื”, ื˜ื™ืคื•ืœ ื•ืคืจื•ื’ื ื•ื–ื”. ื ื™ืชื•ื— ืขื™ื ื™ื™ื. 5

ืžื•ืžื—ื™ืช ืžื•ื‘ื™ืœื” ื‘ืื•ืคืชืœืžื•ืœื•ื’ื™ื” ื™ืœื“ื™ื, ื“"ืจ ื“ื•ืžื™ื ื™ืง ื‘ืจืžื•ืŸ-ื–'ื™ื ื™ืืง, MD, ืžืกื‘ื™ืจื” ื›ื™ืฆื“ ื‘ื“ื™ืงื•ืช ืกืงืจ ืžื•ื“ืจื ื™ื•ืช ื•ื˜ื™ืคื•ืœ ื ื•ื’ื“ VEGF ืžื—ื•ืœืœื™ื ืžื”ืคื›ื” ื‘ื˜ื™ืคื•ืœ ื‘ืจื˜ื™ื ื•ืคืชื™ื” ืฉืœ ืคื’ื•ืช ืœืžื ื™ืขืช ืขื™ื•ื•ืจื•ืŸ ื‘ื™ืœื“ื™ื...

ืฆืคื™ื™ื” ืชืœืช-ืžืžื“ื™ืช ื•ื ื–ืง ืœืขื™ื ื™ื™ื ื‘ื™ืœื“ื™ื. ืžืฉืงืคื™ ืžืฆื™ืื•ืช ืžื“ื•ืžื”, ืจืื™ื™ื” ื›ืคื•ืœื”, ื›ืื‘ื™ ืจืืฉ. 6
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7. ืฆืคื™ื™ื” ืชืœืช-ืžืžื“ื™ืช ื•ื ื–ืง ืœืขื™ื ื™ื™ื ื‘ื™ืœื“ื™ื. ืžืฉืงืคื™ ืžืฆื™ืื•ืช ืžื“ื•ืžื”, ืจืื™ื™ื” ื›ืคื•ืœื”, ื›ืื‘ื™ ืจืืฉ. 6

ืžื•ืžื—ื™ืช ืžื•ื‘ื™ืœื” ื‘ืื•ืคืชืœืžื•ืœื•ื’ื™ื” ื™ืœื“ื™ื, ื“"ืจ ื“ื•ืžื™ื ื™ืง ื‘ืจืžื•ืŸ-ื–'ื™ื ื™ืืง, MD, ืžืกื‘ื™ืจื” ื›ื™ืฆื“ ื˜ื›ื ื•ืœื•ื’ื™ื•ืช ืฆืคื™ื™ื” ืชืœืช-ืžืžื“ื™ืช ื›ืžื• ืžืฉืงืคื™ VR ื•ืกืจื˜ื™ื ืชืœืช-ืžืžื“ื™ื™ื ืขืœื•ืœื•ืช ืœืคื’ื•ืข ื‘ืขื™ื ื™ื™ื ืžืชืคืชื—ื•ืช ื‘ื™ืœื“ื™ื ื•ืžืชื‘ื’ืจื™ื, ืœื’ืจื•ื...

900 ืื‘ื—ื•ื ื™ื ืฉืœ ืžื—ืœื•ืช ืขื™ื ื™ื™ื ื ื“ื™ืจื•ืช. ืจื™ืฆื•ืฃ ื’ื ื•ืžื™ NGS, ืชืกืžื™ื ื™ื, ืกื™ืžื ื™ื. 7
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8. 900 ืื‘ื—ื•ื ื™ื ืฉืœ ืžื—ืœื•ืช ืขื™ื ื™ื™ื ื ื“ื™ืจื•ืช. ืจื™ืฆื•ืฃ ื’ื ื•ืžื™ NGS, ืชืกืžื™ื ื™ื, ืกื™ืžื ื™ื. 7

ืžื•ืžื—ื™ืช ืžื•ื‘ื™ืœื” ื‘ืžื—ืœื•ืช ืขื™ื ื™ื™ื ื ื“ื™ืจื•ืช, ื“"ืจ ื“ื•ืžื™ื ื™ืง ื‘ืจืžื•ืŸ-ื–'ื™ื ื™ืืง, MD, ืžืกื‘ื™ืจื” ื›ื™ืฆื“ ื”ื“ืžื™ื” ืžืชืงื“ืžืช ื•ืจื™ืฆื•ืฃ ื’ื ื˜ื™ ืžื”ื“ื•ืจ ื”ื‘ื ื—ื™ื•ื ื™ื™ื ืœืื‘ื—ื•ืŸ ืžืขืœ 900 ืžืฆื‘ื™ื ื’ื ื˜ื™ื™ื ื ื“ื™ืจื™ื ืฉืœ...

ื’ื™ื“ื•ืœ ืืจื•ื‘ืชื™ ื•ื˜ื™ืคื•ืœ ื‘ืขืคืขืฃ. ืžื ืชื— ืขื™ื ื™ื™ื ื•ืžื•ืžื—ื” ืœืคื” ื•ืœืกืช. 8
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9. ื’ื™ื“ื•ืœ ืืจื•ื‘ืชื™ ื•ื˜ื™ืคื•ืœ ื‘ืขืคืขืฃ. ืžื ืชื— ืขื™ื ื™ื™ื ื•ืžื•ืžื—ื” ืœืคื” ื•ืœืกืช. 8

ืžื•ืžื—ื™ืช ืžื•ื‘ื™ืœื” ื‘ืื•ืคืชืœืžื•ืœื•ื’ื™ื” ื•ื›ื™ืจื•ืจื’ื™ื” ืคื ื™ื ื•ืœืกืชื•ืช, ื“"ืจ ื“ื•ืžื™ื ื™ืง ื‘ืจืžื•ืŸ-ื–'ื™ื ื™ืืง, MD, ืžืกื‘ื™ืจื” ื›ื™ืฆื“ ื’ื™ืฉื” ื›ื™ืจื•ืจื’ื™ืช ืจื‘-ืชื—ื•ืžื™ืช ื—ื™ื•ื ื™ืช ืœื˜ื™ืคื•ืœ ื‘ื’ื™ื“ื•ืœื™ื ืžืกื•ื‘ื›ื™ื ื‘ืืจื•ื‘ื” ื•ื‘ืžืฆื‘ื™ ืขืคืขืฃ. ื”ื™ื ืžืคืจื˜ืช ืืช...

ืคื’ื™ืขื” ื‘ืงืจื ื™ืช ืขืงื‘ ื˜ืจืื•ืžื” ื•ื”ืจืคืก. ื˜ื™ืคื•ืœ ื‘ืชืื™ ื’ื–ืข ืœืคื’ื™ืขื” ื‘ืงืจื ื™ืช. 9
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10. ืคื’ื™ืขื” ื‘ืงืจื ื™ืช ืขืงื‘ ื˜ืจืื•ืžื” ื•ื”ืจืคืก. ื˜ื™ืคื•ืœ ื‘ืชืื™ ื’ื–ืข ืœืคื’ื™ืขื” ื‘ืงืจื ื™ืช. 9

ืžื•ืžื—ื™ืช ืžื•ื‘ื™ืœื” ื‘ืžื—ืœื•ืช ืงื“ืžื™ื•ืช ืฉืœ ื”ืขื™ืŸ, ื“"ืจ ื“ื•ืžื™ื ื™ืง ื‘ืจืžื•ืŸ-ื–'ื™ื ื™ืืง, MD, ืžืกื‘ื™ืจื” ื›ื™ืฆื“ ื˜ื™ืคื•ืœ ื‘ืชืื™ ื’ื–ืข ืœืคื’ื™ืขื” ื‘ืงืจื ื™ืช ืฉื•ืืฃ ืœืฉืงื ืืช ื”ืจืื™ื™ื” ืขืœ ื™ื“ื™ ื”ืชื—ื“ืฉื•ืช ื”ืžืฉื˜ื—...

ืื‘ื—ื•ืŸ ื’ื ื˜ื™ ืฉืœ ืื ื™ืจื™ื“ื™ื”, ืคืจื•ื’ื ื•ื–ื”. ืกื™ืคื•ืจ ืžื˜ื•ืคืœ. ืื ื™ืจื™ื“ื™ื” ืฉืœ ืื ื•ื™ืœื“. 10
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11. ืื‘ื—ื•ืŸ ื’ื ื˜ื™ ืฉืœ ืื ื™ืจื™ื“ื™ื”, ืคืจื•ื’ื ื•ื–ื”. ืกื™ืคื•ืจ ืžื˜ื•ืคืœ. ืื ื™ืจื™ื“ื™ื” ืฉืœ ืื ื•ื™ืœื“. 10

ืžื•ืžื—ื™ืช ืžื•ื‘ื™ืœื” ื‘ืื ื™ืจื™ื“ื™ื” ืžื•ืœื“ืช, ื“"ืจ ื“ื•ืžื™ื ื™ืง ื‘ืจืžื•ืŸ-ื–'ื™ื ื™ืืง, MD, ืžืกื‘ื™ืจื” ื›ื™ืฆื“ ืžื—ืœืช ืขื™ื ื™ื™ื ื ื“ื™ืจื” ื–ื• ื ื’ืจืžืช ืขืœ ื™ื“ื™ ืžื•ื˜ืฆื™ื•ืช ื‘ื’ืŸ PAX6 ื•ืžืคืจื˜ืช ืืช ื”ืžื—ืงืจ ื”ืขื“ื›ื ื™ ื‘ื™ื•ืชืจ...

ื—ืกื™ืžืช ื•ืจื™ื“ ื‘ืจืฉืชื™ืช. ืื‘ื—ื ื”. ืงืฉืจ ื’ื ื˜ื™ ืœืงืจื™ืฉื™ ื“ื, ืชืจื•ืžื‘ื•ื–ื”. 11
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12. ื—ืกื™ืžืช ื•ืจื™ื“ ื‘ืจืฉืชื™ืช. ืื‘ื—ื ื”. ืงืฉืจ ื’ื ื˜ื™ ืœืงืจื™ืฉื™ ื“ื, ืชืจื•ืžื‘ื•ื–ื”. 11

ืžื•ืžื—ื™ืช ืžื•ื‘ื™ืœื” ื‘ืื•ืคืชืœืžื•ืœื•ื’ื™ื” ื™ืœื“ื™ื, ื“"ืจ ื“ื•ืžื™ื ื™ืง ื‘ืจืžื•ืŸ-ื–'ื™ื ื™ืืง, MD, ืžืกื‘ื™ืจื” ื›ื™ืฆื“ ื—ืกื™ืžื” ืฉืœ ื•ืจื™ื“ ื‘ืจืฉืชื™ืช ื‘ื™ืœื“ื™ื ื”ื™ื ืžืฆื‘ ื ื“ื™ืจ ืืš ื—ืžื•ืจ ื”ืงืฉื•ืจ ืœืขื™ืชื™ื ืงืจื•ื‘ื•ืช ืœื•ื•ืจื™ืื ื˜ื™ื ืชืจื•ืžื‘ื•ืคื™ืœื™ื™ื...

ื˜ื™ืคื•ืœ ื’ื ื˜ื™ ื‘ืžื—ืœื•ืช ืขื™ื ื™ื™ื. ืื˜ืœื•ืจืŸ ืœืื ื™ืจื™ื“ื™ื”. ืœื•ืงืกื˜ื•ืจื ื” ืœื“ื™ืกื˜ืจื•ืคื™ื” ืฉืœ ื”ืจืฉืชื™ืช. 12
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13. ื˜ื™ืคื•ืœ ื’ื ื˜ื™ ื‘ืžื—ืœื•ืช ืขื™ื ื™ื™ื. ืื˜ืœื•ืจืŸ ืœืื ื™ืจื™ื“ื™ื”. ืœื•ืงืกื˜ื•ืจื ื” ืœื“ื™ืกื˜ืจื•ืคื™ื” ืฉืœ ื”ืจืฉืชื™ืช. 12

ืžื•ืžื—ื™ืช ืžื•ื‘ื™ืœื” ื‘ืื•ืคืชืœืžื•ืœื•ื’ื™ื” ื™ืœื“ื™ืช ื•ื˜ื™ืคื•ืœ ื’ื ื˜ื™, ื“"ืจ ื“ื•ืžื™ื ื™ืง ื‘ืจืžื•ืŸ-ื–'ื™ื ื™ืืง, MD, ืžืกื‘ื™ืจื” ื›ื™ืฆื“ ื˜ื™ืคื•ืœื™ื ื’ื ื˜ื™ื™ื ื—ื“ืฉื ื™ื™ื ื›ืžื• Luxturna ืœื“ื™ืกื˜ืจื•ืคื™ื” ืฉืœ ื”ืจืฉืชื™ืช ื•-Ataluren ืœืื ื™ืจื™ื“ื™ื” ืžื—ื•ืœืœื™ื ืžื”ืคื›ื” ื‘ื˜ื™ืคื•ืœ...

ืžืงืจื” ืงืœื™ื ื™ 
 ื—ืฉื™ื‘ื•ืช ืฉืœ ืื ืžื ื–ื” ืจืคื•ืื™ืช ื•ืžืฉืคื—ืชื™ืช ืžืคื•ืจื˜ืช ื‘ืื‘ื—ื•ืŸ. 
 13
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14. ืžืงืจื” ืงืœื™ื ื™ ื—ืฉื™ื‘ื•ืช ืฉืœ ืื ืžื ื–ื” ืจืคื•ืื™ืช ื•ืžืฉืคื—ืชื™ืช ืžืคื•ืจื˜ืช ื‘ืื‘ื—ื•ืŸ. 13

ืžื•ืžื—ื™ืช ืžื•ื‘ื™ืœื” ื‘ืื•ืคืชืœืžื•ืœื•ื’ื™ื” ื•ืžื—ืœื•ืช ืขื™ื ื™ื™ื ื ื“ื™ืจื•ืช, ื“"ืจ ื“ื•ืžื™ื ื™ืง ื‘ืจืžื•ืŸ-ื–'ื™ื ื™ืืง, MD, ืžืฉืชืคืช ื‘ืžื—ืงืจ ืžืงืจื” ืžืจืชืง ื”ืžื“ื’ื™ื ื›ื™ืฆื“ ืื ืžื ื–ื” ื™ืกื•ื“ื™ืช ื•ืคื ื•ื˜ื™ืค ืงืœื™ื ื™ ื”ื•ื‘ื™ืœื• ืœืื‘ื—ื•ืŸ ืžื—ืœืช ืงื™ืžื•ืจื” ื‘ื™ืœื“...