№ lp_1_2_40838
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This document is an educational resource for learning about familial hypercholesterolemia and includes detailed instructions for using gel electrophoresis to analyze DNA samples for genetic mutations.
Note:
Year
Theme:
Genetics, Medical Diagnostics
Document type:
Educational activity
Target audience:
Students, Educators
Price: 8 / 10 USD
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The product description is provided for reference. Actual content and formatting may differ slightly.
Year:
2023
Region / city:
Singapore
Topic:
Protein detection, biosensors, electrophoresis
Document type:
Research paper
Author(s):
Patthara Kongsuphol, Gary C.F. Lee, Sunil K. Arya, Su Yin Chiam, Mi Kyoung Park
Institution:
Institute of Microelectronics, Agency for Science Technology and Research (A*STAR)
Target audience:
Researchers, professionals in biosensors and protein detection
Period of validity:
N/A
Approval date:
N/A
Modification date:
N/A
Note:
Year
Subject:
DNA analysis, Electrophoresis
Document Type:
Scientific Procedure, Experimental Data
Author:
Daniel Hering
Target Audience:
Scientists, Forensic Analysts, Students
Year:
2023
Region / City:
United States
Topic:
Genetic Conditions, Familial Hypercholesterolemia
Document Type:
Template Letter
Organization / Institution:
N/A
Author:
N/A
Target Audience:
Family members of individuals diagnosed with FH
Effective Period:
N/A
Approval Date:
N/A
Modification Date:
N/A
Year:
2015
Region / city:
Australia
Theme:
Hypercholesterolemia treatment
Document type:
Pharmaceutical submission
Organization / institution:
Amgen Australia Pty Limited
Author:
Amgen Australia Pty Limited
Target audience:
Healthcare professionals
Period of validity:
Ongoing
Approval date:
4 December 2015
Date of amendments:
December 2022
Context:
Submission to modify existing PBS listings for evolocumab for the treatment of different types of hypercholesterolemia, including changes to prescription requirements and treatment duration.
Year:
2023
Region / City:
Denmark
Topic:
Familial Hypercholesterolemia, Lipid Profiles, Cardiovascular Risk
Document Type:
Supplementary Data / Research Tables
Institution:
Danish National Patient Registry, Danish Familial Hypercholesterolemia Registry
Authors:
Hedegaard BS, Bork CS, Kanstrup HL, Besseling J, Visseren F, et al.
Target Audience:
Researchers and clinicians in cardiology and genetics
Data Collection Period:
Up to 2023
Methods:
Clinical data validation, genetic testing, lipid-lowering treatment assessment
Abbreviations Used:
LDL-C, Lp(a), FH, DLCN, DNPR, LDLR, ApoB, PCSK9
Data Validity:
Positive predictive values and sensitivity for DLCN components
Follow-up:
6±2 months post-diagnosis
Genetic Analysis:
Pathogenic variants in LDLR, ApoB, PCSK9
Year:
2023
Region / City:
United States
Topic:
Genetic Conditions, Familial Hypercholesterolemia
Document Type:
Template Letter
Organization / Institution:
N/A
Author:
N/A
Target Audience:
Family members of individuals diagnosed with FH
Effective Period:
N/A
Approval Date:
N/A
Modification Date:
N/A
Year:
2024
Region / City:
Florida, USA
Topic:
Criminal Law, Sexual Battery
Document Type:
Legal Instruction
Author:
Florida Legislature
Target Audience:
Legal professionals, judges, prosecutors, defense attorneys
Period of validity:
From 1987, with amendments through March 2024
Date of approval:
1987
Date of amendments:
December 21, 2022; March 8, 2024
Year:
2023
Region / City:
Dorset
Theme:
Child Protection, Safeguarding
Document Type:
Terms of Reference
Organization:
Dorset Council, Dorset Police
Target Audience:
Professionals involved in child protection and safeguarding
Period of validity:
Ongoing
Approval Date:
September 2023
Date of Changes:
None
Year:
2020
Region / Institution:
University College London
Programme:
DPUK Work Package 5
Related Work Packages:
WP3 (UK Biobank), WP4 (1946 birth cohort), WP6
Thematic Area:
Neurodegenerative diseases and biomarkers
Diseases Covered:
Familial Alzheimer’s disease, Familial frontotemporal dementia, Huntington’s disease, Familial Parkinson’s disease (LRRK2)
Cohorts:
UCL FAD, DIAN, GENFI, Track HD, LRRK2 cohort
Type of Document:
Research programme summary and output report
Organ / Institution:
University College London
Collaborating Initiatives:
DIAN, GENFI, Track HD, UK Biobank
Main Biomarkers Studied:
Serum neurofilament light (NfL), plasma phospho-tau181, cortical mean diffusivity, PET imaging markers
Study Population:
Individuals with autosomal dominant inherited neurodegenerative diseases and non-mutation carrier siblings
Research Focus:
Presymptomatic to symptomatic disease progression and biomarker validation
Outputs:
Peer-reviewed publications and longitudinal cohort analyses
Authors:
Jasmine Gratton; Steve E Humphries; Marta Futema
Institutions:
Institute of Cardiovascular Science, Faculty of Population Health Sciences, University College London, London, United Kingdom; Cardiology Research Centre, Molecular and Clinical Sciences Research Institute, St George’s University of London, London, United Kingdom
Country:
United Kingdom
Data source:
UK Biobank
Study design:
Population-based cohort study
Subject:
Prevalence of FH-causing genetic variants and association with LDL-C levels across ancestry groups
Population:
European, South Asian, and African ancestry participants
Sample size:
140,439 European; 4,067 South Asian; 3,906 African participants with lipid and whole exome sequencing data
Genes analysed:
LDLR; APOB; PCSK9
Methods:
Principal component analysis; whole exome sequencing; variant classification using ACMG guidelines
Outcome measures:
Prevalence of pathogenic and likely pathogenic FH variants; LDL-C concentration adjusted for statin use; prevalence and incidence of coronary heart disease
Period of data collection:
2006–2010
Ethical approval:
Conducted under approved UK Biobank application 40721
Type of document:
Scientific research article
Year:
2023
Region:
United Kingdom
Topic:
Breast Cancer, Familial Risk
Document Type:
Clinical Guideline Summary
Organization:
National Institute for Health and Care Excellence (NICE)
Target Audience:
General Practitioners, Primary Care Staff
Level of Care:
Primary and Secondary Care
Key Recommendations:
Referral pathways, Family history assessment, Tamoxifen prescribing
Implementation Status:
Updated guideline with electronic template in progress
Relevant Clinical Areas:
Breast Units, Family History Clinics, Genetic Services
Screening:
NHS Breast Screening Programme, additional surveillance for high-risk women
Year:
2023
Region / City:
Denmark
Topic:
Familial Hypercholesterolemia, Lipid Profiles, Cardiovascular Risk
Document Type:
Supplementary Data / Research Tables
Institution:
Danish National Patient Registry, Danish Familial Hypercholesterolemia Registry
Authors:
Hedegaard BS, Bork CS, Kanstrup HL, Besseling J, Visseren F, et al.
Target Audience:
Researchers and clinicians in cardiology and genetics
Data Collection Period:
Up to 2023
Methods:
Clinical data validation, genetic testing, lipid-lowering treatment assessment
Abbreviations Used:
LDL-C, Lp(a), FH, DLCN, DNPR, LDLR, ApoB, PCSK9
Data Validity:
Positive predictive values and sensitivity for DLCN components
Follow-up:
6±2 months post-diagnosis
Genetic Analysis:
Pathogenic variants in LDLR, ApoB, PCSK9