Child-parent screening for familial hypercholesterolaemia: screening strategy based on a meta-analysis
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TLDR
The proposed strategy of screening children and parents for familial hypercholesterolaemia could have considerable impact in preventing the medical consequences of this disorder in two generations simultaneously.Abstract:
Objective To develop a population screening strategy for familial hypercholesterolaemia. Design Meta-analysis of published data on total and low density lipoprotein (LDL) cholesterol in people with and without familial hypercholesterolaemia according to age. Thirteen studies reporting on 1907 cases and 16 221 controls were used in the analysis. Included studies had at least 10 cases and controls with data on the distribution of cholesterol in affected and unaffected individuals. Main outcome measures Detection rates (sensitivity) for specified false positive rates (0.1%, 0.5%, and 1%) in newborns and in age groups 1-9, 10-19, 20-39, 40-59, and ≥60 years. Results Serum cholesterol concentration discriminated best between people with and without familial hypercholesterolaemia at ages 1-9, when the detection rates with total cholesterol were 88%, 94%, and 96% for false positive rates of 0.1%, 0.5%, and 1%. The results were similar with LDL cholesterol. Screening newborns was much less effective. Once an affected child is identified, measurement of cholesterol would detect about 96% of parents with the disorder, using the simple rule that the parent with the higher serum cholesterol concentration is the affected parent. Conclusions The proposed strategy of screening children and parents for familial hypercholesterolaemia could have considerable impact in preventing the medical consequences of this disorder in two generations simultaneously.read more
Citations
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Journal ArticleDOI
The Metabolic Basis Of Inherited Disease.
TL;DR: This volume, more than most, explains the contributions of the laboratory to clinical medicine, and shedding light on fundamental metabolic sequences and biologic mechanisms.
Journal ArticleDOI
Familial Hypercholesterolaemia in Children and Adolescents: Gaining Decades of Life by Optimizing Detection and Treatment
Albert Wiegman,Samuel S. Gidding,Gerald F. Watts,M. John Chapman,Henry N. Ginsberg,Marina Cuchel,Leiv Ose,Maurizio Averna,Catherine Boileau,Jan Borén,Eric Bruckert,Alberico L. Catapano,Joep C. Defesche,Olivier S. Descamps,Robert A. Hegele,G. Kees Hovingh,Steve E. Humphries,Petri T. Kovanen,Jan Albert Kuivenhoven,Luis Masana,Børge G. Nordestgaard,Päivi Pajukanta,Klaus G. Parhofer,Frederick J. Raal,Kausik K. Ray,Raul D. Santos,Anton F. H. Stalenhoef,Elisabeth Steinhagen-Thiessen,Erik S.G. Stroes,Marja-Riitta Taskinen,Marja-Riitta Taskinen,Anne Tybjærg-Hansen,Olov Wiklund +32 more
TL;DR: This consensus paper aims to improve awareness of the need for early detection and management of FH children by recommending cascade screening of families using a combined phenotypic and genotypic strategy.
対数正規分布(Lognormal Distribution)のあてはめについて
寛三 日野,Kanzo Hino +1 more
TL;DR: In this article, a lognormally distributed random variable Z = exp(Y) where exp stands for the exponential function (exp(x) = e x) is calculated and the mean Z and the standard deviation s Z of the lognormal variable are related to the mean Y and standard deviation S Y of the normal variable by( 2 / exp() exp(2 Y s Y Z = [1] 5.
Journal ArticleDOI
Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel.
Amy C. Sturm,Joshua W. Knowles,Samuel S. Gidding,Zahid Ahmad,Catherine D. Ahmed,Christie M. Ballantyne,Seth J. Baum,Mafalda Bourbon,Alain Carrié,Marina Cuchel,Sarah D. de Ferranti,Joep C. Defesche,Tomáš Freiberger,Ray E. Hershberger,G. Kees Hovingh,Lala Karayan,Johannes Jacob Pieter Kastelein,Iris Kindt,Stacey R. Lane,Sarah Leigh,MacRae F. Linton,Pedro Mata,William A. Neal,Børge G. Nordestgaard,Raul D. Santos,Mariko Harada-Shiba,Eric J.G. Sijbrands,Nathan O. Stitziel,Shizuya Yamashita,Katherine Wilemon,David H. Ledbetter,Daniel J. Rader +31 more
TL;DR: The Expert Consensus Panel recommends that FH genetic testing become the standard of care for patients with definite or probable FH, as well as for their at-risk relatives, and more accurate risk stratification.
Journal ArticleDOI
Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation
Gerald F. Watts,Samuel S. Gidding,Anthony S. Wierzbicki,Peter P. Toth,Peter P. Toth,Rodrigo Alonso,W. Virgil Brown,Eric Bruckert,Joep C. Defesche,Khoo Kah Lin,Michael Livingston,Pedro Mata,Klaus G. Parhofer,Frederick J. Raal,Raul D. Santos,Eric J.G. Sijbrands,William G. Simpson,David R. Sullivan,Andrey V. Susekov,Brian Tomlinson,Albert Wiegman,Shizuya Yamashita,John J.P. Kastelein +22 more
TL;DR: Recommendations on treatment are based on risk stratification, management of non-cholesterol risk factors, and safe and effective use of LDL lowering therapies, and the use of emerging therapies for FH is foreshadowed.
References
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Journal ArticleDOI
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Book
The lognormal distribution
TL;DR: Lloyds Bank has its main root in a substantial private bank founded in Birmingham nearly two centuries ago; one hundred years ago this Bank still had only the one office in Birmingham, with a related private banking house in Lombard Street, and by amalgamation it has absorbed scores of other eighteenth and nineteenth century banks, both private and joint stock, and at least two of the former reach back into Restoration London, perhaps Cromwellian London.
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Journal ArticleDOI
The Metabolic Basis Of Inherited Disease.
TL;DR: This volume, more than most, explains the contributions of the laboratory to clinical medicine, and shedding light on fundamental metabolic sequences and biologic mechanisms.
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