№ lp_1_20660
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This document serves as a template for individuals diagnosed with familial hypercholesterolemia (FH) to inform their blood relatives about the condition and its risks.
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
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The product description is provided for reference. Actual content and formatting may differ slightly.
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.
Note:
Year
Theme:
Genetics, Medical Diagnostics
Document type:
Educational activity
Target audience:
Students, Educators
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:
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
Note:
Year
Theme:
Genetics, Medical Diagnostics
Document type:
Educational activity
Target audience:
Students, Educators
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
Year:
N/A
Region / City:
N/A
Topic:
Academic writing, formatting guidelines
Document Type:
Guidelines
Institution:
Informing Science Institute
Author:
N/A
Target Audience:
Authors submitting papers for publication
Period of Validity:
N/A
Approval Date:
N/A
Date of Changes:
N/A
Contextual Description:
Document outlines the formatting and submission requirements for papers to be published in Informing Science Institute journals.
Organization:
NASA
Program:
Mars Exploration Program
Document Type:
Industry questionnaire
Purpose:
Informing a near-term Industry Study Request for Proposals (RFP)
Related Initiative:
Draft Mars Future Plan
Subject:
Commercial services for Mars missions
Design Reference Missions:
DRM 1 – Smaller Payload(s) Delivery and Hosting Services; DRM 2 – Larger Payload(s) Delivery and Hosting Services; DRM 3 – Imaging Services; DRM 4 – Comm Relay
Assumed Support:
Deep Space Network (DSN) systems and services; planetary protection coordination; draft market demand
Target Respondents:
Commercial space industry companies
Study Assumption:
10-week study period
Launch Cadence Considered:
Approximately every 26 months
Orbit Reference (DRM 1):
Low Mars polar orbit (~300 km), sun-synchronous
Payload Constraints (DRM 1):
Not to exceed 20 kg total
Payload Constraints (DRM 2):
Not to exceed 1250 kg
Disclaimer:
Information provided for study purposes only and does not constitute a commitment
Year:
2018
Region / City:
Australia
Subject:
Health Practitioner Regulation
Document Type:
Guideline
Organization:
Australian Health Practitioner Regulation Agency (AHPRA)
Author:
Not specified
Target Audience:
Registered health practitioners
Effective Period:
Not specified
Approval Date:
1 August 2018
Date of Changes:
Not specified
Year:
2020
Region / City:
United Kingdom
Theme:
Public Health, COVID-19, Government Response
Document Type:
Research Paper, Public Health Report
Organization / Institution:
University of Southampton, University of Edinburgh, UCL, University College London, Liverpool School of Tropical Medicine, University of Bristol, London School of Hygiene & Tropical Medicine, University of Leeds, University of Oxford, University of East Anglia, University of Bern, University of Exeter, Newcastle University
Author:
Nisreen A Alwan, Raj Bhopal, Rochelle A Burgess, Tim Colbourn, Luis E Cuevas, George Davey Smith, Matthias Egger, Sandra Eldridge, Valentina Gallo, Mark S Gilthorpe, Trish Greenhalgh, Christopher Griffiths, Paul R Hunter, Shabbar Jaffar, Ruth Jepson, Nicola Low, Adrian Martineau, David McCoy, Miriam Orcutt, Bharat Pankhania, Hynek Pikhart, Allyson Pollock, Gabriel Scally, James Smith, Devi Sridhar, Stephanie Taylor, Peter W G Tennant, Yrene Themistocleous, Anne Wilson
Target Audience:
Scientific and Health Communities, General Public
Period of Validity:
March 2020
Approval Date:
March 14, 2020
Modification Date:
March 15, 2020
Version:
1.0
Date of issue:
1 August 2018
Jurisdiction:
Queensland, Australia
Legislative basis:
Health Practitioner Regulation National Law
Related legislation:
Privacy Act 1988 (Cth)
Issuing bodies:
National Boards; Australian Health Practitioner Regulation Agency (AHPRA)
Subject:
Disclosure of reasons for National Board decisions to notifiers
Document type:
Regulatory protocol
Applies to:
Registered health practitioners; notifiers; National Boards; AHPRA
Purpose:
To outline circumstances and conditions under which notifiers are informed of decisions and reasons
Transparency framework:
Amendments passed by Queensland Parliament in September 2017
Confidentiality considerations:
Australian Privacy Principles; AHPRA Privacy Policy
Regulatory context:
Assessment, investigation, health assessment, performance assessment, panel decisions under the National Law
Year:
2023
Region / City:
Australia
Topic:
Autism, Education, Disability
Document Type:
Submission
Organization:
ADCET (Australian Disability Clearinghouse on Education and Training)
Author:
Darlene McLennan
Target Audience:
Disability practitioners, educators, students, and their families
Action Period:
Ongoing
Approval Date:
Not provided
Date of Changes:
Not provided
Year:
2024
Region / City:
Los Angeles, California; Lompoc, California
Subject:
STEM Education and Career Guidance
Document Type:
Research Paper / Case Study
Institution:
University of Southern California
Authors:
Dan M. Davis, Julianne M. Nordhagen, John J. Lazzeroni, Frederica J. Stassi
Target Audience:
Students, Educators, STEM Mentors
Research Focus:
STEM career awareness, outreach programs, mentoring technology
Methodology:
Online mentor avatars, in-person STEM fair interactions
Email Contacts:
[email protected]; [email protected]; [email protected]; [email protected]
Publication Context:
Higher education and public STEM outreach
Year:
2020
Region / City:
United States
Topic:
Healthcare Policy, Nursing
Document Type:
Educational Text
Institution:
N/A
Author:
N/A
Target Audience:
Healthcare professionals, nurses, students in health-related fields
Period of Action:
N/A
Approval Date:
N/A
Date of Changes:
N/A