{"id":3367,"date":"2021-09-28T11:51:22","date_gmt":"2021-09-28T11:51:22","guid":{"rendered":"https:\/\/www.lifescienceart.com\/?p=3367"},"modified":"2021-09-28T11:51:22","modified_gmt":"2021-09-28T11:51:22","slug":"medical-sleuth-uncovering-the-truth-behind-a-child-s-death","status":"publish","type":"post","link":"https:\/\/www.lifescienceart.com\/vi\/science\/medical-science\/medical-sleuth-uncovering-the-truth-behind-a-child-s-death\/","title":{"rendered":"Th\u00e1m t\u1eed y khoa: V\u00e9n m\u00e0n s\u1ef1 th\u1eadt \u0111\u1eb1ng sau c\u00e1i ch\u1ebft c\u1ee7a m\u1ed9t \u0111\u1ee9a tr\u1ebb"},"content":{"rendered":"

Th\u00e1m t\u1eed y khoa: V\u00e9n m\u00e0n s\u1ef1 th\u1eadt \u0111\u1eb1ng sau c\u00e1i ch\u1ebft c\u1ee7a m\u1ed9t \u0111\u1ee9a tr\u1ebb<\/h2>\n\n

H\u00e9 l\u1ed9 b\u00ed \u1ea9n<\/h2>\n\n

Trong m\u1ed9t v\u1ee5 vi\u1ec7c \u0111au l\u00f2ng, m\u1ed9t b\u00e9 g\u00e1i t\u00ean Sara Lynn Glick \u0111\u01b0\u1ee3c t\u00ecm th\u1ea5y \u0111\u00e3 ch\u1ebft v\u00e0 cha m\u1eb9 em b\u1ecb bu\u1ed9c t\u1ed9i ng\u01b0\u1ee3c \u0111\u00e3i tr\u1ebb em. Tuy nhi\u00ean, Ti\u1ebfn s\u0129 D. Holmes Morton, m\u1ed9t nh\u00e0 di truy\u1ec1n h\u1ecdc h\u00e0ng \u0111\u1ea7u, \u0111\u00e3 nghi ng\u1edd \u0111i\u1ec1u kh\u00e1c.<\/p>\n\n

Di truy\u1ec1n h\u1ecdc v\u00e0 ng\u01b0\u1ee3c \u0111\u00e3i tr\u1ebb em<\/h2>\n\n

Ti\u1ebfn s\u0129 Morton c\u00f3 s\u1ef1 hi\u1ec3u bi\u1ebft s\u00e2u s\u1eafc v\u1ec1 c\u00e1c r\u1ed1i lo\u1ea1n di truy\u1ec1n ph\u1ed5 bi\u1ebfn trong c\u1ed9ng \u0111\u1ed3ng Amish v\u00e0 Mennonite. \u00d4ng tin r\u1eb1ng c\u00e1i ch\u1ebft c\u1ee7a Sara c\u00f3 th\u1ec3 li\u00ean quan \u0111\u1ebfn m\u1ed9t t\u00ecnh tr\u1ea1ng di truy\u1ec1n ti\u1ec1m \u1ea9n h\u01a1n l\u00e0 b\u1ecb ng\u01b0\u1ee3c \u0111\u00e3i.<\/p>\n\n

\u0110i\u1ec1u tra s\u1ef1 th\u1eadt<\/h2>\n\n

Morton \u0111\u00e3 ki\u1ec3m tra h\u1ed3 s\u01a1 b\u1ec7nh \u00e1n c\u1ee7a Sara v\u00e0 ph\u1ecfng v\u1ea5n gia \u0111\u00ecnh em. \u00d4ng ph\u00e1t hi\u1ec7n ra r\u1eb1ng em ch\u00e0o \u0111\u1eddi b\u1ecb thi\u1ebfu vitamin K, c\u00f3 th\u1ec3 d\u1eabn \u0111\u1ebfn c\u00e1c v\u1ea5n \u0111\u1ec1 v\u1ec1 ch\u1ea3y m\u00e1u. Ngo\u00e0i ra, \u00f4ng c\u00f2n ph\u00e1t hi\u1ec7n ra r\u1eb1ng em m\u1eafc ch\u1ee9ng r\u1ed1i lo\u1ea1n v\u1eadn chuy\u1ec3n mu\u1ed1i m\u1eadt hi\u1ebfm g\u1eb7p \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn gan.<\/p>\n\n

Th\u00e1ch th\u1ee9c c\u00e1c gi\u1ea3 \u0111\u1ecbnh<\/h2>\n\n

\u0110\u01b0\u1ee3c trang b\u1ecb nh\u1eefng b\u1eb1ng ch\u1ee9ng n\u00e0y, Morton \u0111\u00e3 \u0111\u1ed1i ch\u1ea5t v\u1edbi ch\u00ednh quy\u1ec1n, l\u1eadp lu\u1eadn r\u1eb1ng nh\u1eefng v\u1ebft th\u01b0\u01a1ng c\u1ee7a Sara kh\u00f4ng ph\u1ea3i do b\u1ecb ng\u01b0\u1ee3c \u0111\u00e3i g\u00e2y ra. \u00d4ng tin r\u1eb1ng s\u1ef1 k\u1ebft h\u1ee3p c\u1ee7a c\u00e1c r\u1ed1i lo\u1ea1n di truy\u1ec1n \u0111\u00e3 d\u1eabn \u0111\u1ebfn c\u00e1i ch\u1ebft th\u01b0\u01a1ng t\u00e2m c\u1ee7a em.<\/p>\n\n

Gi\u1ea3i m\u00e3 b\u00ed \u1ea9n<\/h2>\n\n

Th\u00f4ng qua qu\u00e1 tr\u00ecnh nghi\u00ean c\u1ee9u s\u00e2u r\u1ed9ng, Morton v\u00e0 nh\u00f3m c\u1ee7a \u00f4ng \u0111\u00e3 x\u00e1c \u0111\u1ecbnh \u0111\u01b0\u1ee3c ch\u00ednh x\u00e1c khi\u1ebfm khuy\u1ebft di truy\u1ec1n g\u00e2y ra t\u00ecnh tr\u1ea1ng c\u1ee7a Sara. H\u1ecd \u0111\u00e3 ph\u00e1t tri\u1ec3n m\u1ed9t x\u00e9t nghi\u1ec7m \u0111\u1ec3 ch\u1ea9n \u0111o\u00e1n nh\u1eefng tr\u1ebb s\u01a1 sinh c\u00f3 th\u1ec3 m\u1eafc c\u00f9ng ch\u1ee9ng r\u1ed1i lo\u1ea1n, ng\u0103n ng\u1eeba nh\u1eefng bi k\u1ecbch t\u01b0\u01a1ng t\u1ef1 trong t\u01b0\u01a1ng lai.<\/p>\n\n

Ph\u00f2ng kh\u00e1m d\u00e0nh cho tr\u1ebb em \u0111\u1eb7c bi\u1ec7t<\/h2>\n\n

C\u00f4ng tr\u00ecnh c\u1ee7a Morton \u0111\u00e3 d\u1eabn \u0111\u1ebfn vi\u1ec7c th\u00e0nh l\u1eadp Ph\u00f2ng kh\u00e1m d\u00e0nh cho tr\u1ebb em \u0111\u1eb7c bi\u1ec7t t\u1ea1i Strasburg, Pennsylvania. Ph\u00f2ng kh\u00e1m n\u00e0y chuy\u00ean ch\u0103m s\u00f3c tr\u1ebb em m\u1eafc c\u00e1c b\u1ec7nh di truy\u1ec1n hi\u1ebfm g\u1eb7p, \u0111\u1eb7c bi\u1ec7t l\u00e0 nh\u1eefng b\u1ec7nh th\u01b0\u1eddng g\u1eb7p \u1edf c\u1ed9ng \u0111\u1ed3ng Amish v\u00e0 Mennonite.<\/p>\n\n

M\u1ed9t m\u00f4 h\u00ecnh y h\u1ecdc di truy\u1ec1n<\/h2>\n\n

Ph\u00f2ng kh\u00e1m d\u00e0nh cho tr\u1ebb em \u0111\u1eb7c bi\u1ec7t \u0111\u00e3 tr\u1edf th\u00e0nh m\u00f4 h\u00ecnh cho t\u01b0\u01a1ng lai c\u1ee7a y h\u1ecdc. Ph\u00f2ng kh\u00e1m n\u00e0y nh\u1ea5n m\u1ea1nh t\u1ea7m quan tr\u1ecdng c\u1ee7a vi\u1ec7c s\u00e0ng l\u1ecdc di truy\u1ec1n, \u0111i\u1ec1u tr\u1ecb \u0111\u01b0\u1ee3c c\u00e1 nh\u00e2n h\u00f3a v\u00e0 s\u1ef1 tham gia c\u1ee7a c\u1ed9ng \u0111\u1ed3ng. B\u1eb1ng c\u00e1ch ph\u00e1t hi\u1ec7n s\u1edbm c\u00e1c nguy c\u01a1 di truy\u1ec1n, c\u00e1c b\u00e1c s\u0129 c\u00f3 th\u1ec3 th\u1ef1c hi\u1ec7n c\u00e1c bi\u1ec7n ph\u00e1p ph\u00f2ng ng\u1eeba v\u00e0 c\u1ea3i thi\u1ec7n k\u1ebft qu\u1ea3 \u0111i\u1ec1u tr\u1ecb cho tr\u1ebb em m\u1eafc b\u1ec7nh hi\u1ebfm.<\/p>\n\n

Vai tr\u00f2 c\u1ee7a di truy\u1ec1n h\u1ecdc trong ch\u0103m s\u00f3c s\u1ee9c kh\u1ecfe<\/h2>\n\n

C\u00f4ng tr\u00ecnh c\u1ee7a Morton \u0111\u00e3 n\u00eau b\u1eadt vai tr\u00f2 quan tr\u1ecdng c\u1ee7a di truy\u1ec1n h\u1ecdc trong ch\u0103m s\u00f3c s\u1ee9c kh\u1ecfe. Nh\u1edd hi\u1ec3u \u0111\u01b0\u1ee3c c\u01a1 s\u1edf di truy\u1ec1n c\u1ee7a c\u00e1c b\u1ec7nh, c\u00e1c b\u00e1c s\u0129 c\u00f3 th\u1ec3 ch\u1ea9n \u0111o\u00e1n ch\u00ednh x\u00e1c h\u01a1n, ph\u00e1t tri\u1ec3n c\u00e1c ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb c\u00f3 m\u1ee5c ti\u00eau v\u00e0 ng\u0103n ng\u1eeba c\u00e1c v\u1ea5n \u0111\u1ec1 s\u1ee9c kh\u1ecfe trong t\u01b0\u01a1ng lai.<\/p>\n\n

T\u01b0\u01a1ng lai c\u1ee7a y h\u1ecdc<\/h2>\n\n

Khi x\u00e9t nghi\u1ec7m di truy\u1ec1n ng\u00e0y c\u00e0ng ti\u00ean ti\u1ebfn, x\u00e9t nghi\u1ec7m n\u00e0y c\u00f3 kh\u1ea3 n\u0103ng \u0111\u00f3ng vai tr\u00f2 ng\u00e0y c\u00e0ng quan tr\u1ecdng trong y h\u1ecdc. Ph\u00f2ng kh\u00e1m d\u00e0nh cho tr\u1ebb em \u0111\u1eb7c bi\u1ec7t l\u00e0 \u0111\u01a1n v\u1ecb ti\u00ean phong trong cu\u1ed9c c\u00e1ch m\u1ea1ng n\u00e0y, ch\u1ee9ng minh c\u00e1ch th\u00f4ng tin di truy\u1ec1n c\u00f3 th\u1ec3 bi\u1ebfn \u0111\u1ed5i ch\u0103m s\u00f3c s\u1ee9c kh\u1ecfe v\u00e0 c\u1ea3i thi\u1ec7n cu\u1ed9c s\u1ed1ng c\u1ee7a v\u00f4 s\u1ed1 c\u00e1 nh\u00e2n.<\/p>","protected":false},"excerpt":{"rendered":"

Th\u00e1m t\u1eed y khoa: V\u00e9n m\u00e0n s\u1ef1 th\u1eadt \u0111\u1eb1ng sau c\u00e1i ch\u1ebft c\u1ee7a m\u1ed9t \u0111\u1ee9a tr\u1ebb H\u00e9 l\u1ed9 b\u00ed \u1ea9n Trong m\u1ed9t v\u1ee5 vi\u1ec7c \u0111au l\u00f2ng, m\u1ed9t b\u00e9 g\u00e1i t\u00ean…<\/p>\n","protected":false},"author":6,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[3029],"tags":[2174,188,6466,99,3418,6467,6465],"class_list":["post-3367","post","type-post","status-publish","format-standard","hentry","category-medical-science","tag-medical-mystery","tag-genetics","tag-genetic-disorders","tag-lifescienceart","tag-amish","tag-mennonite","tag-child-health"],"_links":{"self":[{"href":"https:\/\/www.lifescienceart.com\/vi\/wp-json\/wp\/v2\/posts\/3367","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.lifescienceart.com\/vi\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.lifescienceart.com\/vi\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.lifescienceart.com\/vi\/wp-json\/wp\/v2\/users\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/www.lifescienceart.com\/vi\/wp-json\/wp\/v2\/comments?post=3367"}],"version-history":[{"count":1,"href":"https:\/\/www.lifescienceart.com\/vi\/wp-json\/wp\/v2\/posts\/3367\/revisions"}],"predecessor-version":[{"id":3368,"href":"https:\/\/www.lifescienceart.com\/vi\/wp-json\/wp\/v2\/posts\/3367\/revisions\/3368"}],"wp:attachment":[{"href":"https:\/\/www.lifescienceart.com\/vi\/wp-json\/wp\/v2\/media?parent=3367"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.lifescienceart.com\/vi\/wp-json\/wp\/v2\/categories?post=3367"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.lifescienceart.com\/vi\/wp-json\/wp\/v2\/tags?post=3367"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}