UID:
almafu_9961427375402883
Format:
1 videorecording (50 mins., 22 sec.) :
,
sound, colour
,
005022
Note:
Retrieved April 10, 2024, from https://hstalks.com/bs/1059/.
,
Introduction -- Talk outline -- FH diagnosis in family Y (1) -- Diagnosis of FH -- Genes involved in cholesterol metabolism -- LDL-r protein and LDLR gene arrangement -- Second FH-causing gene: ApoB -- The third FH gene: NARC-1 - PCSK9 -- How statins work -- Are statins effective in patients with FH? -- Do statins reduce CHD in FH patients? -- How common is FH in UK? expect 1/500 -- FH - five key facts -- DNA testing for FH - current status -- DNA testing for common mutations -- DNA screening for common deletions -- Screening strategy for FH samples -- UCL 2007 database of published LDLR mutations -- FH diagnosis in family Y (2) -- Confirming FH diagnosis in family Y -- Genetic diagnosis in FH family M -- Cascade testing (CT) for FH patients -- The overlap problem -- LDL-C in FH and non-FH, analysed by age -- Will DNA testing influence patient management? -- FH cascade testing (CT) is being started in UK -- Recommendations -- Clinical utility of DNA tests in FH -- The BHF-Simon Broome FH project -- Mutation type and cholesterol levels -- CHD risk and the specific mutation -- Clinical questions in FH management: adults -- Clinical questions in FH management: childhood -- Perception of genetic risk information -- Psychological impact of DNA testing in FH -- FH and eligibility for life insurance -- Test FH patient characteristics -- Test FH patient excess rating -- FH and DNA-based testing: conclusions.
Language:
English
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