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Comprehensive reference table of hereditary myoclonus syndromes with associated genes, clinical manifestations, inheritance patterns, and OMIM identifiers.
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
Price: 8 / 10 USD
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The product description is provided for reference. Actual content and formatting may differ slightly.
Year:
2026
Region / City:
Germany
Topic:
Neurological Testing, Pain Syndromes
Document Type:
Scientific Research Supplement
Organization / Institution:
German Research Network on Neuropathic Pain (DFNS)
Author:
R. Rolke, R. Baron, C. Maier, et al.
Target Audience:
Medical Professionals, Researchers in Neurology and Pain Management
Period of Validity:
N/A
Date of Approval:
N/A
Date of Changes:
N/A
Year:
2011
Region / city:
United States
Topic:
Alcohol withdrawal management
Document type:
Medical review
Institution:
Not specified
Author:
Robert S Hoffman, MD; Gerald L Weinhouse, MD
Target audience:
Healthcare professionals
Period of validity:
Until updated
Date of approval:
December 19, 2011
Date of updates:
January 2012
Year:
2024
Region / City:
London, UK
Theme:
Cardiovascular Disease, Coronary Syndromes, Ischaemia
Document Type:
Research Article, Guideline Update
Organization / Institution:
St George’s, University of London
Author:
Juan Carlos Kaski
Target Audience:
Cardiologists, Medical Professionals
Period of Action:
2024
Approval Date:
Not specified
Date of Changes:
2024
Keywords:
Angina pectoris, Nomenclature in Ischaemic Heart Disease, Coronary Artery Disease, Management of Angina, Chronic Coronary Syndromes
Context:
The document provides an overview of recent changes in the nomenclature and management guidelines for chronic coronary syndromes, with a focus on the evolving understanding of ischemic heart diseases and the need for a more comprehensive classification system.
Year:
2017
Region / City:
N/A
Topic:
Hematologic Toxicities, Myelodysplastic Syndromes, Acute Myeloid Leukemia
Document Type:
Meta-analysis
Organization:
N/A
Author:
N/A
Target Audience:
Researchers, Healthcare Professionals
Period of Action:
N/A
Approval Date:
N/A
Modification Date:
2/2018
Year:
2023
Region / City:
National
Topic:
Bone Marrow Failure Syndromes
Document Type:
Abstract
Author:
Smith, John A1; Doe, Jane B2
Target Audience:
Medical professionals, researchers
Period of validity:
N/A
Approval Date:
N/A
Date of changes:
N/A
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
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