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Peer-reviewed medical research article presenting results of a nationwide survey of patients with hereditary angioedema and acquired C1 inhibitor deficiency treated in UK centres, including demographic characteristics, prevalence estimates, and patterns of clinical management.
Country:
United Kingdom
Topic:
Hereditary angioedema and acquired C1 inhibitor deficiency
Document type:
Medical research article
Study type:
National survey
Authors:
Patrick FK Yong; Tanya Coulter; Tariq El-Shanwany; Tomaz Garcez; Scott Hackett; Rashmi Jain; Sorena Kiani-Alikhan; Ania Manson; Sadia Noorani; Catherine Stroud; Christine Symons; Ravishankar Sargur; Cathal Steele; Hana Alachkar; Ariharan Anantharachagan; Peter D Arkwright; Jolanta Bernatoniene; Malini Bhole; Lindsay Brown; Matthew Buckland; Siobhan Burns; Charu Chopra; James Darroch; Elizabeth Drewe; Jillian Edmonds; Anjali Ekbote; Shuayb Elkhalifa; Sarah Goddard; Dorothea Grosse-Kreul; Padmalal Gurugama; Rosie Hague; Richard Herriot; Archana Herwadkar; Stephen M Hughes; Laura Jones; Sara Lear; Elizabeth McDermott; Sai Hurng Kham Murng; Arthur Price; Vyanka Redenbaugh; Alex Richter; Andrew Riordan; Fiona Shackley; Julia Stichbury; Debbie Springett; Michael D Tarzi; Moira Thomas; Pavaladurai Vijayadurai; Austen Worth
Institutions:
Multiple NHS trusts and university hospitals across England, Scotland, Wales, and Northern Ireland
Corresponding author:
Patrick FK Yong
Corresponding institution:
Frimley Health NHS Foundation Trust
Methodology:
Questionnaire survey of specialist centres managing hereditary angioedema and acquired C1 inhibitor deficiency
Number of participating centres:
37
Patient population:
Individuals with HAE-1/2, HAE with normal C1 inhibitor, and acquired C1 inhibitor deficiency
Sample size:
1265 patients
Medical conditions studied:
Hereditary angioedema; acquired C1 inhibitor deficiency
Key treatments mentioned:
Danazol; C1 inhibitor replacement therapy; icatibant; tranexamic acid
Funding source:
Unrestricted grant from Pharming
Keywords:
hereditary angioedema; acquired C1 inhibitor deficiency; epidemiology; demographics; treatment modalities; United Kingdom
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Year:
2026
Region / City:
Missouri
Topic:
Hereditary Angioedema Treatment
Document Type:
Proposal
Institution:
MO HealthNet
Author:
MO HealthNet and Conduent
Target Audience:
Health professionals and stakeholders in the MO HealthNet program
Effective Period:
Starting from May 9, 2019
Approval Date:
January 20, 2026
Modification Date:
Not specified
Document Status:
Revision of Existing Criteria
Context:
A proposal outlining the preferred drug list and approval criteria for hereditary angioedema treatment agents within the MO HealthNet program.
Document type:
Press release
Topic:
Rare diseases; hereditary angioedema
Event:
hae day :-)
Date:
16 May
Geographic scope:
Global
Organizing body:
HAE International (HAEi)
Organizational type:
Global non-profit network of patient associations
Target audiences:
General public; healthcare professionals; healthcare decision-makers; industry representatives
Key activity:
Global physical and wellbeing activities converted into steps
Campaign theme:
#active4HAE in purple
Campaign period:
Early April to end of May
Medical condition described:
Hereditary angioedema
Risks described:
Potential fatal airway swelling
Supporting organizations:
National HAE patient organizations
Primary spokesperson cited:
President of HAE International
Online platform referenced:
haeday.org
Press material section:
Notes to editors; About hae day :-); About HAEi
Source type:
Organizational public communication announcing a global health awareness campaign coordinated by an international patient advocacy network and describing planned activities, medical background, and participation framework.
Year:
2026
Region / City:
Missouri
Topic:
Hereditary Angioedema Treatment
Document Type:
Proposal
Institution:
MO HealthNet
Author:
MO HealthNet and Conduent
Target Audience:
Health professionals and stakeholders in the MO HealthNet program
Effective Period:
Starting from May 9, 2019
Approval Date:
January 20, 2026
Modification Date:
Not specified
Document Status:
Revision of Existing Criteria
Context:
A proposal outlining the preferred drug list and approval criteria for hereditary angioedema treatment agents within the MO HealthNet program.
Document type:
Press release
Topic:
Rare diseases; hereditary angioedema
Event:
hae day :-)
Date:
16 May
Geographic scope:
Global
Organizing body:
HAE International (HAEi)
Organizational type:
Global non-profit network of patient associations
Target audiences:
General public; healthcare professionals; healthcare decision-makers; industry representatives
Key activity:
Global physical and wellbeing activities converted into steps
Campaign theme:
#active4HAE in purple
Campaign period:
Early April to end of May
Medical condition described:
Hereditary angioedema
Risks described:
Potential fatal airway swelling
Supporting organizations:
National HAE patient organizations
Primary spokesperson cited:
President of HAE International
Online platform referenced:
haeday.org
Press material section:
Notes to editors; About hae day :-); About HAEi
Source type:
Organizational public communication announcing a global health awareness campaign coordinated by an international patient advocacy network and describing planned activities, medical background, and participation framework.
Year:
2026
Region / city:
N/A
Topic:
Hereditary Dystonia
Document type:
Medical classification list
Organization:
N/A
Author:
N/A
Target audience:
Medical professionals, researchers in genetics and neurology
Period of validity:
N/A
Approval date:
N/A
Date of changes:
N/A
Document Type:
Letter template
Subject:
Request for approval of Guideline-based Hereditary Cancer Panel
Test Name:
Guideline-based Hereditary Cancer Panel
Test Code:
38611
Provider:
Quest Diagnostics
Referenced Organization:
National Comprehensive Cancer Network
Referenced Guidelines:
NCCN Clinical Practice Guidelines in Oncology
Genes Analyzed:
32 cancer-susceptibility genes
CPT Codes:
Listed in Appendix 2
Appendices:
Appendix 1 (Genes included); Appendix 2 (CPT codes)
Intended Author:
Physician (MD)
Intended Recipient:
Payer / Insurance Provider
Date:
1/18/21
Title:
Sample Letter of Medical Necessity – MyRisk Hereditary Cancer Test
Type of Document:
Template letter
Purpose:
Insurance coverage request for genetic testing
Test Name:
MyRisk Hereditary Cancer test
Company:
Myriad Genetics
Referenced Organization:
National Comprehensive Cancer Network
Clinical Focus:
Hereditary breast and ovarian cancer; Lynch syndrome; Familial polyposis; hereditary colorectal cancer
Intended Author:
Healthcare provider / Physician
Intended Recipient:
Medical Director
Subject Matter:
Genetic testing; hereditary cancer syndromes; medical management decisions
Referenced Guidelines:
NCCN Clinical Practice Guidelines in Oncology
Consent Requirement:
Informed consent documented
Related Test Panel:
MyRisk Hereditary Cancer test
Year:
2019
Region / city:
Cambridge, United Kingdom
Topic:
Hereditary diffuse gastric cancer, endoscopic surveillance, biopsy techniques
Document type:
Clinical Trial Study
Organization / institution:
University of Cambridge
Target audience:
Medical professionals, researchers, and clinicians involved in hereditary cancer surveillance
Period of action:
October 2017 - December 2018
Approval date:
Not specified
Date of changes:
Not specified
Note:
Date
Theme:
Hereditary cancer genetic testing
Document type:
Medical necessity letter
Organization / Institution:
Ambry Genetics Corporation
Author:
Ordering Clinician
Target Audience:
Insurance companies, Utilization Review Department
Period of validity:
Until approved
Year:
2026
Location:
London, UK
Subject:
Distal Hereditary Motor Neuropathy, muscle function, gait analysis, rehabilitation
Document Type:
Participant Information Sheet
Institution:
Queen Square Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery
Chief Investigator:
Dr Gita Ramdharry
Researcher:
Aljwhara Alangary
Target Audience:
Patients with distal hereditary motor neuropathy
Study Duration:
16 months
Measurement Sessions:
0 months, 12 months, 16 months
Intervention:
4-month therapeutic exercise program, ankle braces, physical therapy
Data Collection Methods:
Gait analysis, muscle strength measurement, MRI scans
Consent Required:
Yes
Confidentiality:
Maintained according to privacy regulations; data may be shared anonymously for future research
Year:
2026
Region:
International
Topic:
Genetic neurological disorders
Document type:
Reference list
Institution:
Medical genetics research
Authors:
Multiple contributors
Target audience:
Clinicians, researchers, geneticists
Data coverage:
Hereditary myoclonus syndromes, gene associations, clinical features
Classification:
By gene, OMIM number, mode of inheritance
Clinical features included:
Seizures, myoclonus severity, cognitive impairment, ataxia, visual and auditory symptoms
Intended use:
Medical reference for hereditary myoclonus
Source type:
Scientific database and literature compilation
Updated:
Yes
Year:
2019
Region / City:
Australia
Topic:
Pharmaceutical Benefits Scheme, PD-(L)1 inhibitors, non-small cell lung cancer (NSCLC)
Document type:
Meeting minutes
Organization:
Pharmaceutical Benefits Advisory Committee (PBAC)
Author:
Professor Andrew Wilson (PBAC Chair)
Target audience:
Stakeholders in the healthcare and pharmaceutical industry
Period of validity:
2019 and onwards
Date of approval:
February 2019
Date of amendments:
Not specified
Year:
2021
Region / city:
N/A
Document type:
Research supplementary materials
Organization / institution:
University of North Carolina
Author:
Ling Xie, Ryan N. Sheehy, Yan Xiong, Adil Muneer, John A. Wrobel, Kwang-Su Park, Julia Velez, Jing Liu, Yan-Jia Luo, Ya-Dong Li, Luis Quintanilla, Yongyi Li, Chongchong Xu, Mohanish Deshmukh, Zhexing Wen, Jian Jin, Juan Song, Xian Chen
Target audience:
Researchers in neuroscience, pharmacology, and precision medicine
Period of validity:
N/A
Approval date:
N/A
Date of amendments:
N/A
Year:
2013
Region / City:
Leeds, Yorkshire and The Humber
Theme:
Clinical trials, Chronic Kidney Disease
Document type:
Research study protocol
Organization:
University of Birmingham Clinical Trials Unit, Hull and East Yorkshire Hospitals NHS Trust
Author:
Prof Sunil Bhandari
Target audience:
Healthcare professionals, nephrologists, researchers
Period of validity:
3 years
Approval date:
2013
Change date:
N/A
Study reference number:
11/30/07
Ethics committee reference:
13/YH/0394
EudraCT number:
2013-003798-82
Sponsor:
Hull and East Yorkshire Hospitals NHS Trust
Funding source:
Efficacy and Mechanism Evaluation (EME) programme, National Institute for Health Research (NIHR), Medical Research Council (MRC)
Note:
Contextual description
Year:
2026
Region / City:
Global
Topic:
Pharmacogenetics, Antidepressants
Document Type:
Guideline
Organization / Institution:
Clinical Pharmacogenetics Implementation Consortium (CPIC)
Authors:
Chad A. Bousman, James M. Stevenson, Laura B. Ramsey, Katrin Sangkuhl, J. Kevin Hicks, Jeffrey R. Strawn, Ajeet B. Singh, Gualberto Ruaño, Daniel J. Mueller, Evangelia Eirini Tsermpini, Jacob T. Brown, Gillian C. Bell, J. Steven Leeder, Andrea Gaedigk, Stuart A. Scott, Teri E. Klein, Kelly E. Caudle, Jeffrey R. Bishop
Target Audience:
Healthcare professionals, geneticists, pharmacologists
Effective Period:
Ongoing
Approval Date:
2026
Modification Date:
Not specified
Year:
2026
Region / City:
Southampton, U.K.; Newcastle upon Tyne, U.K.; Cambridge, U.K.
Subject:
Biochemistry, Cancer Research
Document Type:
Research Article
Organization / Institution:
University of Southampton, Newcastle University, AstraZeneca
Author:
Eliot L. Osher, Francisco Castillo, Nagarajan Elumalai, Michael J. Waring, Garry Pairaudeau, Ali Tavassoli
Target Audience:
Researchers, Scientists, Medical Professionals
Duration:
Ongoing
Approval Date:
Not specified
Modification Date:
Not specified
Year:
2023
Region / City:
Global
Topic:
Research
Document Type:
Technical Data Sheet
Organization / Institution:
Abcam
Author:
Abcam
Target Audience:
Researchers, Laboratory Technicians
Effective Period:
Not specified
Approval Date:
Not specified
Modification Date:
Not specified
Description:
Technical data sheet detailing the usage and protocol for the COX2 Inhibitor Screening Kit (Fluorometric), a product intended for high-throughput screening of COX-2 inhibitors in research laboratories.
Year:
2023
Region / city:
Benha, Al-Ahsa, Sohag, Alqurayat
Subject:
Corrosion inhibition, Surfactants, Electrochemical Analysis
Document Type:
Research Paper
Organization / Institution:
Benha University, King Faisal University, Sohag University, Jouf University
Author:
Mohamed A. Abo-Riya, Kamal A. Soliman, Hany M. Abd El-Lateef, Ahmed H. Tantawy, Salah Eid
Target Audience:
Researchers, Academics, Engineers in Materials Science and Chemistry
Period of Validity:
N/A
Approval Date:
N/A
Date of Changes:
N/A
Context:
A research paper examining the synthesis, properties, and performance of imine surfactants as corrosion inhibitors for carbon steel in acidic solutions.
Year:
2023
Region / City:
Ann Arbor, MI, USA
Topic:
Cancer Research, Glycolytic Metabolism, Cell Migration
Document Type:
Research Article
Organization:
University of Michigan
Authors:
Brock Humphries, Johanna M. Buschhaus, Yu-Chih Chen, Henry R. Haley, Tonela Qyli, Benjamin Chiang, Nathan Shen, Shrila Rajendran, Alyssa Cutter, Yu-Heng Cheng, Yu-Ting Chen, Jason Cong, Phillip C. Spinosa, Euisik Yoon, Kathryn E. Luker, Gary D. Luker
Target Audience:
Researchers, Medical Professionals, Oncology Specialists
Period of Action:
N/A
Date of Approval:
N/A
Date of Revisions:
N/A
Year:
2026
Research Institution:
[Not specified in document]
Cell Lines:
PEO1, TOV21G, UWB1.289
Genes Studied:
BRCA1, BRCA2, FZD10, ALKBH5, FTO, METTLE3, METTLE14, YTHDF2, HuR, IGF2BP2
Drugs:
Olaparib, Niraparib, Rucaparib, XAV939
Experimental Methods:
Immunoblotting, qRT-PCR, RNA electrophoresis, shRNA knockdown, lentiviral infection, HR and NHEJ reporter assays, apoptosis assays, mouse xenograft models
Target Pathways:
Wnt signaling, DNA repair pathways (HR and NHEJ)
Data Analysis Tools:
NIH ImageJ, statistical analysis via two-tailed t-test
Supplement Type:
Figure legends for supplementary data in molecular biology research
End Date of Experimentation:
Not specified