№ files_lp_3_process_7_068978
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Informational family notification letter outlining the inheritance, clinical features, and genetic testing considerations related to Fragile X syndrome and FMR1 gene mutations, with references to counseling and support resources.
Document type:
Informational letter
Subject:
Fragile X syndrome and Fragile X–associated disorders
Genetic focus:
FMR1 gene mutation on the X chromosome
Issuing organization:
National Fragile X Foundation
Intended recipients:
Family members of an individual identified with FXS or FMR1 premutation
Purpose:
Summary of genetic inheritance and testing recommendations
Testing referenced:
FMR1 DNA test
Contact information provided:
National Fragile X Foundation; National Society of Genetic Counselors website
Geographic scope:
United States
Date:
Not specified
Language:
English
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The product description is provided for reference. Actual content and formatting may differ slightly.
Note:
Year
Theme:
Humanitarian Response Plans
Document type:
Data overview
Target audience:
Humanitarian organizations, researchers
Period of validity:
Since 2002
Contextual description:
A dataset of humanitarian response plans related to various global crises and their respective dates since 2002.
Year:
2023
Region / city:
European Union
Topic:
International Humanitarian Law, Human Rights, EU Humanitarian Diplomacy
Document Type:
Public Hearing Programme
Organization / Institution:
European Parliament
Authors:
DEVE and DROI Committees
Target Audience:
EU Members of Parliament, Humanitarian and Development Practitioners
Period of Validity:
May 2023
Approval Date:
2023-05-14
Modification Date:
None
Year:
2026
Region / city:
Global
Topic:
Social protection, fragile states
Document type:
Research paper
Institution:
World Bank
Author:
Not specified
Target audience:
Researchers, policymakers, development professionals
Period of validity:
Not specified
Approval date:
Not specified
Date of changes:
Not specified
Keywords:
social protection, fragile states, World Bank, development, state-building
Contextual description:
Research paper examining the integration of the social protection and fragile states agendas within the World Bank, analyzing institutional barriers to their collaboration.
Year:
2025
Region:
Northwest Region, Cameroon
Theme:
Health system assessment, Eye care, Disability inclusion
Document type:
Original research article
Institution:
Christian Blind Mission (CBM)
Methodology:
Mixed-methods situational analysis
Data sources:
Facility assessments, surveys with district and facility leaders, documentary review, DHIS2 and facility registers
Population:
Residents of 21 health districts in Northwest Cameroon
Conflict context:
Armed conflict since 2016
Key findings:
Limited service availability, urban concentration of specialists, weak governance, high out-of-pocket costs, inconsistent reporting, disrupted outreach
Keywords:
Eye care, Health systems, Disability inclusion, Conflict-affected settings, Equity, DECSAT, Cameroon
Year:
2022
Region:
Africa
Country:
Djibouti
Project Type:
Full Size Project, Least Developed Country Fund (LDCF)
Implementing Agency:
Climate Change Adaptation Unit, Ecosystems Division, UNEP
Executing Agency:
Ministry of Environment and Sustainable Development
Other Partners:
Ministry of Agriculture, Livestock and Fisheries (MAEM-RH), National Water and Sanitation Office (ONEAD), Djibouti National Research Centre (CERD), National Meteorological Agency (ANM), Social Development Agency (ADDS), Regional governments of Tadjourah and Dikhil, Agropastoralism Association of Hanlé, Association of Women in Tadjourah
GEF Financing Amount:
USD 7,360,000
Co-financing Amount:
USD 14,170,000
Start of Implementation:
November 2014
CEO Endorsement Date:
11 March 2014
First Disbursement Date:
20 August 2014
Total Disbursement as of 30 June 2022:
USD 6,839,096.04
Total Expenditure as of 30 June 2022:
USD 6,677,909.84
Expected Mid-Term Review Date:
April 2019
Planned Completion Date:
Technical completion June 2018, Financial closure December 2018
Revised Completion Date:
Technical completion December 2022, Financial closure June 2023
Expected Terminal Evaluation Date:
May 2023
Expected Financial Closure Date:
June 2023
Programme of Work:
UNEP Programme of Work 2022-23, Sub-programmes: Climate action, Nature action
GEF Focal Area:
Climate change adaptation
UNDAF Linkages:
Djibouti UNDAF 2018-2022 Strategic Objectives 3, 4, 5
SDG Targets:
2.3.2, 2.4.1, 6.1.1, 11.5.1, 11.5.2, 13.3.2, 13.B.1, 15.3.1, 15.a.1
Project Scope:
National
Duration:
48 months, with extensions until June 2023
Year:
2014
Region / City:
Semarang, Central Java, Indonesia
Topic:
Intellectual Disability, Fragile X Syndrome, Biomedicine
Document Type:
Original Article
Institution:
Diponegoro University, Faculty of Medicine, Department of Anatomy
Author:
Tri Indah Winarni
Target Audience:
Academic and Research Community
Date of Approval:
11/03/2014
Date of Changes:
N/A
Year:
2012–2019
Dataset:
Fragile X Online Registry with Accessible Research Database
Study Type:
Observational study
Variables:
Severity of intellectual disability, Vineland Adaptive Behavior Composite Score, Aberrant Behavior Checklist for Fragile X, Social Responsiveness Scale for Fragile X
Population:
Individuals with Fragile X syndrome
Sample Size:
N varies by subgroup
Mosaicism Status:
Size mosaic, Methylation mosaic
Data Source:
Clinician reports and standardized assessments
Geographic Scope:
Not specified
Measurement Tools:
VABS, ABCFX, SRSFX
Year:
[DD/MM/YYYY]
Country:
[NAME OF COUNTRY]
Region:
[NAME OF REGION]
Type of document:
Exercise scenario template
Organization:
Ministry of Health
Author:
National Surveillance Director (simulated)
Target audience:
Exercise management team
Exercise type:
Field/full-scale exercise (FSX)
Medical focus:
Haemorrhagic syndrome / Ebola
Exercise components:
Scenario narrative, inject matrix, timeline
Infrastructure focus:
Hospitals, laboratories, transportation system
Emergency functions:
EOC activation, media management, resource coordination
Past incidents referenced:
Crimean-Congo haemorrhagic fever case four months prior
Year:
2023
Region / City:
Canberra, Australian Capital Territory (ACT)
Theme:
Acute Coronary Syndrome, STEMI, Medical Procedure
Document Type:
Standard Operating Procedure
Organization / Institution:
Canberra Health Services
Author:
Not specified
Target Audience:
Health care professionals working in acute coronary syndrome management
Period of Validity:
Not specified
Approval Date:
Not specified
Date of Last Update:
Not specified
Year:
2023
Region / City:
United States
Topic:
Infectious diseases, prevention, and treatment
Document type:
Health advisory
Organization / Institution:
Centers for Disease Control and Prevention (CDC)
Author:
Centers for Disease Control and Prevention (CDC)
Target audience:
General public
Date of approval:
Not specified
Date of changes:
Not specified
Year:
2025
Date:
13 May 2025
Event Type:
Webinar
Organizer:
Institute and Faculty of Actuaries
Speaker:
James Nicholl (APR LLP)
Supporting Speakers:
Amar, Imelda, Joynal, Sammy, Ahmed, Asees
Topic:
Imposter Syndrome, Confidence in Mathematics Careers
Target Audience:
Students, Early-career actuaries
Location:
Online / United Kingdom
Related Fields:
Actuarial Science, Mathematics, Data Science, AI, Climate Change, Sustainability
Year:
2026
Region / City:
MO HealthNet
Topic:
Dravet Syndrome, Anticonvulsants
Document Type:
Proposal
Organization:
MO HealthNet
Author:
MO HealthNet and Conduent
Target Audience:
Healthcare providers, MO HealthNet participants
Effective Period:
Ongoing
Approval Date:
January 20, 2026
Amendment Date:
N/A
Year:
2024
Region / City:
East London
Topic:
Medical Condition Management
Document Type:
Policy
Organization / Institution:
East London NHS Foundation Trust
Author:
Professional Development Lead Dietitian, ELFT; Clinical Lead Pharmacist, CHS Newham
Target Audience:
Healthcare Professionals
Period of Validity:
January 2025 - December 2027
Approval Date:
13th December 2024
Ratification Date:
22nd January 2025
Last Review Date:
December 2024
Next Review Date:
December 2027
Year:
2013
Region / city:
Global
Subject:
Antiphospholipid Syndrome (APS) Diagnosis and Treatment Guidelines
Document Type:
Medical Guideline
Organization / Institution:
AmSECT
Author:
Not specified
Target Audience:
Healthcare professionals, medical practitioners
Effective Date:
2013
Date of Approval:
Not specified
Date of Revision:
Not specified
Related Documents:
Angiomax/Bivalirudin Clinical Protocol
References:
Gomez, J.A., Cervera, R. Diagnosis and Classification of the Antiphospholipid Syndrome. Journal of Autoimmunity. 2013; 48-49:20-25. Cho H, Jeon Y, Hong DM, Kim HJ, Min JJ. Anesthetic Management of Antiphospholipid Syndrome Patients who underwent Cardiac Surgery. Korean Journal of Anesthesiology. 2014; 66(2):164-168.
Disclaimer:
In emergency situations, immediate life support measures of whatever appropriate nature come first with attention turning to measures described in this protocol/process as soon as possible and practical.
Context:
Medical guideline on the management of Antiphospholipid Syndrome (APS) with a focus on cardiovascular surgical procedures, addressing diagnosis, treatment, and perfusion pump considerations.
Year:
2019
Region / city:
New Zealand
Topic:
Antenatal screening, Down syndrome, genetic disorders, trisomy 21, trisomy 18, trisomy 13
Document type:
Monitoring report
Organization / institution:
National Screening Unit
Author:
National Screening Unit
Target audience:
Healthcare professionals, policymakers, researchers
Period of validity:
N/A
Approval date:
May 2023
Date of amendments:
N/A
Committee:
Infectious Disease
Document type:
Position statement
Proposed title:
Standardized Case Definition for Alpha-Gal Syndrome
Condition:
Alpha-Gal Syndrome
Alternative names:
Red meat allergy; Alpha-gal allergy
Purpose:
Disease surveillance
Geographic scope:
United States
Associated vector:
Ticks
Primary vector species:
Lone star tick (Amblyomma americanum)
Surveillance focus:
Case definition and reporting criteria
Intended users:
Public health authorities
Timeframe referenced:
2010–2018
Organ / institution:
Council of State and Territorial Epidemiologists
Year:
2016
Region / City:
UK
Topic:
Dermatology, Acute cutaneous drug reactions
Document Type:
Medical Guidelines
Organization:
British Association of Dermatologists (BAD)
Author:
Creamer, D., Walsh, S. A., Dziewulski, P., Smith, C. H.
Target Audience:
Healthcare professionals
Period of Action:
Not specified
Approval Date:
Not specified
Date of Changes:
Not specified
Contextual description:
Medical guidelines for the identification and management of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, including causes, treatment, and mortality prediction.
Note:
Year
Subject:
Veterinary diagnostics
Document type:
Research/Diagnostic guideline
Organization:
Cornell Animal Health Diagnostic Center
Target audience:
Veterinarians
Year:
2023
Region / city:
Not specified
Topic:
Health, Mortality Risk, Body Roundness Index (BRI)
Document type:
Research Supplement
Institution:
Not specified
Author:
Not specified
Target audience:
Researchers, Public health professionals
Period of validity:
Not specified
Approval date:
Not specified
Date of modifications:
Not specified
Date:
21 May 2025
Location:
Santa Cruz, Laguna, Philippines
Organization:
International Rice Research Institute (IRRI)
Lead Scientist:
Dr. Van Schepler-Luu
Contributing Scientist:
Dr. Gilda Jonson
Collaborating Institutions:
Department of Agriculture – Regional Crop Protection Center (RCPC); Sta. Cruz Municipal Agriculture Office
Subject:
First documented case of rice yellowing syndrome in the Philippines
Viruses Identified:
Rice Grassy Stunt Virus (RGSV); Rice Ragged Stunt Virus (RRSV)
Rice Variety Affected:
LAV666 (Jackpot 102)
Diagnostic Methods:
RT-PCR; ELISA; PCR
Vector:
Brown planthopper (Nilaparvata lugens)
Reported Impact:
Severe yield reduction (16 cavans vs. expected 200 cavans)
Historical Reference:
Yellowing syndrome first reported in Mekong Delta, Vietnam, 1989
Citation:
Jonson, G. and Schepler-Luu, V. (2025). IRRI identifies the first case of rice yellowing syndrome in the Philippines. Zenodo. https://doi.org/10.5281/zenodo.15479438
License:
CC-BY