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Bệnh hemophilia hay còn gọi là bệnh rối loạn đông máu. Đây là một bệnh di truyền do thiếu hụt hay bất thường chức năng của các yếu tố đông máu huyết tương, như các yếu tố VIII, IX hay XI. Bệnh đặc trưng bởi thời gian đông máu kéo dài và tăng nguy cơ chảy máu; biểu hiện lâm sàng chủ yếu là xuất huyết, xuất huyết có thể tự nhiên hoặc sau chấn thương nhẹ. Đặc điểm xuất huyết là đám máu bầm dưới da, tụ máu trong cơ, chảy máu ở các khớp. Hemophilia là bệnh tương đối hiếm gặp. Tỉ lệ mắc bệnh là 1/10.000 người. Dự đoán đến năm 2020, thế giới sẽ có khoảng 550.000 BN. Tại Việt Nam , theo điều tra năm 1996 có khoảng 6000 BN Có 2 nguyên nhân mắc bệnh là :Người bệnh Hemophilia mắc bệnh từ khi sinh ra do nhận gen bệnh của ba mẹ. Tuy nhiên khoảng 30% bệnh nhân không có tiền sử gia đình. Những trường hợp này được cho là do đột biến gen bình thường chuyển thành gen bệnh và gen bệnh này vẫn di truyền cho thế hệ sau. Gen quy định tổng hợp FVIII nằm ở vị trí Xq28 trên NST giới tính XGen F8 là một trong những gen lớn nhất cơ thể, có kích thước 186 kb gồm 26 exon trong đó 24 exon có kích thước từ 62 bp - 262 bp và 2 exon lớn nhất exon 14 (3106 bp) và exon 26 (1958 bp) DNA người bình thường ở mẫu đối chứng dương (+) khi được khuếch đại bằng phản ứng multiplex PCR có 1 băng kích thước tương ứng 487 bp. Nếu đột biến xảy ra, khi khuếch đại sẽ cho 1 đoạn kích thước 559 bp. Để đảm bảo chính xác các vạch DNA trên đúng là đoạn DNA cần tìm, gel có chứa đoạn DNA kích thước 559 bp, kích thước 487 bp ở mẫu bệnh nhân trình tự nucleotid được cắt để tinh sạch rồi giải trình tự sau đó kiểm tra so sánh với trình tự Genebank.
Đột biến gene trong bệnh rối loạn đông máu Hemophilia
Đột biến gene trong bệnh rối loạn đông máu Hemophilia
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Bệnh hemophilia hay còn gọi là bệnh rối loạn đông máu. Đây là một bệnh di truyền do thiếu hụt hay bất thường chức năng của các yếu tố đông máu huyết tương, như các yếu tố VIII, IX hay XI. Bệnh đặc trưng bởi thời gian đông máu kéo dài và tăng nguy cơ chảy máu; biểu hiện lâm sàng chủ yếu là xuất huyết, xuất huyết có thể tự nhiên hoặc sau chấn thương nhẹ. Đặc điểm xuất huyết là đám máu bầm dưới da, tụ máu trong cơ, chảy máu ở các khớp. Hemophilia là bệnh tương đối hiếm gặp. Tỉ lệ mắc bệnh là 1/10.000 người. Dự đoán đến năm 2020, thế giới sẽ có khoảng 550.000 BN. Tại Việt Nam , theo điều tra năm 1996 có khoảng 6000 BN Có 2 nguyên nhân mắc bệnh là :Người bệnh Hemophilia mắc bệnh từ khi sinh ra do nhận gen bệnh của ba mẹ. Tuy nhiên khoảng 30% bệnh nhân không có tiền sử gia đình. Những trường hợp này được cho là do đột biến gen bình thường chuyển thành gen bệnh và gen bệnh này vẫn di truyền cho thế hệ sau. Gen quy định tổng hợp FVIII nằm ở vị trí Xq28 trên NST giới tính XGen F8 là một trong những gen lớn nhất cơ thể, có kích thước 186 kb gồm 26 exon trong đó 24 exon có kích thước từ 62 bp - 262 bp và 2 exon lớn nhất exon 14 (3106 bp) và exon 26 (1958 bp) DNA người bình thường ở mẫu đối chứng dương (+) khi được khuếch đại bằng phản ứng multiplex PCR có 1 băng kích thước tương ứng 487 bp. Nếu đột biến xảy ra, khi khuếch đại sẽ cho 1 đoạn kích thước 559 bp. Để đảm bảo chính xác các vạch DNA trên đúng là đoạn DNA cần tìm, gel có chứa đoạn DNA kích thước 559 bp, kích thước 487 bp ở mẫu bệnh nhân trình tự nucleotid được cắt để tinh sạch rồi giải trình tự sau đó kiểm tra so sánh với trình tự Genebank.
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Heather Hedden, Senior Consultant at Enterprise Knowledge, presented “The Role of Taxonomy and Ontology in Semantic Layers” at a webinar hosted by Progress Semaphore on April 16, 2024. Taxonomies at their core enable effective tagging and retrieval of content, and combined with ontologies they extend to the management and understanding of related data. There are even greater benefits of taxonomies and ontologies to enhance your enterprise information architecture when applying them to a semantic layer. A survey by DBP-Institute found that enterprises using a semantic layer see their business outcomes improve by four times, while reducing their data and analytics costs. Extending taxonomies to a semantic layer can be a game-changing solution, allowing you to connect information silos, alleviate knowledge gaps, and derive new insights. Hedden, who specializes in taxonomy design and implementation, presented how the value of taxonomies shouldn’t reside in silos but be integrated with ontologies into a semantic layer. Learn about: - The essence and purpose of taxonomies and ontologies in information and knowledge management; - Advantages of semantic layers leveraging organizational taxonomies; and - Components and approaches to creating a semantic layer, including the integration of taxonomies and ontologies
The Role of Taxonomy and Ontology in Semantic Layers - Heather Hedden.pdf
The Role of Taxonomy and Ontology in Semantic Layers - Heather Hedden.pdf
Enterprise Knowledge
Finology Group – Insurtech Innovation Award 2024
Finology Group – Insurtech Innovation Award 2024
Finology Group – Insurtech Innovation Award 2024
The Digital Insurer
Read about the journey the Adobe Experience Manager team has gone through in order to become and scale API-first throughout the organisation.
Scaling API-first – The story of a global engineering organization
Scaling API-first – The story of a global engineering organization
Radu Cotescu
Cisco CCNA
CNv6 Instructor Chapter 6 Quality of Service
CNv6 Instructor Chapter 6 Quality of Service
giselly40
Sara Mae O’Brien Scott and Tatiana Baquero Cakici, Senior Consultants at Enterprise Knowledge (EK), presented “AI Fast Track to Search-Focused AI Solutions” at the Information Architecture Conference (IAC24) that took place on April 11, 2024 in Seattle, WA. In their presentation, O’Brien-Scott and Cakici focused on what Enterprise AI is, why it is important, and what it takes to empower organizations to get started on a search-based AI journey and stay on track. The presentation explored the complexities of enterprise search challenges and how IA principles can be leveraged to provide AI solutions through the use of a semantic layer. O’Brien-Scott and Cakici showcased a case study where a taxonomy, an ontology, and a knowledge graph were used to structure content at a healthcare workforce solutions organization, providing personalized content recommendations and increasing content findability. In this session, participants gained insights about the following: Most common types of AI categories and use cases; Recommended steps to design and implement taxonomies and ontologies, ensuring they evolve effectively and support the organization’s search objectives; Taxonomy and ontology design considerations and best practices; Real-world AI applications that illustrated the value of taxonomies, ontologies, and knowledge graphs; and Tools, roles, and skills to design and implement AI-powered search solutions.
IAC 2024 - IA Fast Track to Search Focused AI Solutions
IAC 2024 - IA Fast Track to Search Focused AI Solutions
Enterprise Knowledge
Presented by Sergio Licea and John Hendershot
How to Troubleshoot Apps for the Modern Connected Worker
How to Troubleshoot Apps for the Modern Connected Worker
ThousandEyes
45-60 minute session deck from introducing Google Apps Script to developers, IT leadership, and other technical professionals.
Automating Google Workspace (GWS) & more with Apps Script
Automating Google Workspace (GWS) & more with Apps Script
wesley chun
In an era where artificial intelligence (AI) stands at the forefront of business innovation, Information Architecture (IA) is at the core of functionality. See “There’s No AI Without IA” – (from 2016 but even more relevant today) Understanding and leveraging how Information Architecture (IA) supports AI synergies between knowledge engineering and prompt engineering is critical for senior leaders looking to successfully deploy AI for internal and externally facing knowledge processes. This webinar be a high-level overview of the methodologies that can elevate AI-driven knowledge processes supporting both employees and customers. Core Insights Include: Strategic Knowledge Engineering: Delve into how structuring AI's knowledge base is required to prevent hallucinations, enable contextual retrieval of accurate information. This will include discussion of gold standard libraries of use cases support testing various LLMs and structures and configurations of knowledge base. Precision in Prompt Engineering: Learn the art of crafting prompts that direct AI to deliver targeted, relevant responses, thereby optimizing customer experiences and business outcomes. Unified Approach for Enhanced AI Performance: Explore the intersection of knowledge and prompt engineering to develop AI systems that are not only more responsive but also aligned with overarching business strategies. Guiding Principles for Implementation: Equip yourself with best practices, ethical guidelines, and strategic considerations for embedding these technologies into your business ecosystem effectively. This webinar is designed to empower business and technology leaders with the knowledge to harness the full potential of AI, ensuring their organizations not only keep pace with digital transformation but lead the charge. Join us to map a roadmap to fully leverage Information Architecture (IA) and AI chart a course towards a future where AI is a key pillar of strategic innovation and business success.
EIS-Webinar-Prompt-Knowledge-Eng-2024-04-08.pptx
EIS-Webinar-Prompt-Knowledge-Eng-2024-04-08.pptx
Earley Information Science
Axa Assurance Maroc - Insurer Innovation Award 2024
Axa Assurance Maroc - Insurer Innovation Award 2024
Axa Assurance Maroc - Insurer Innovation Award 2024
The Digital Insurer
MySQL Webinar, presented on the 25th of April, 2024. Summary: MySQL solutions enable the deployment of diverse Database Architectures tailored to specific needs, including High Availability, Disaster Recovery, and Read Scale-Out. With MySQL Shell's AdminAPI, administrators can seamlessly set up, manage, and monitor these solutions, ensuring efficiency and ease of use in their administration. MySQL Router, on the other hand, provides transparent routing from the application traffic to the backend servers in the architectures, requiring minimal configuration. Completely built in-house and supported by Oracle, these solutions have been adopted by enterprises of all sizes for their business-critical applications. In this presentation, we'll delve into various database architecture solutions to help you choose the right one based on your business requirements. Focusing on technical details and the latest features to maximize the potential of these solutions.
Mastering MySQL Database Architecture: Deep Dive into MySQL Shell and MySQL R...
Mastering MySQL Database Architecture: Deep Dive into MySQL Shell and MySQL R...
Miguel Araújo
Presentation from Melissa Klemke from her talk at Product Anonymous in April 2024
ProductAnonymous-April2024-WinProductDiscovery-MelissaKlemke
ProductAnonymous-April2024-WinProductDiscovery-MelissaKlemke
Product Anonymous
This presentations targets students or working professionals. You may know Google for search, YouTube, Android, Chrome, and Gmail, but did you know Google has many developer tools, platforms & APIs? This comprehensive yet still high-level overview outlines the most impactful tools for where to run your code, store & analyze your data. It will also inspire you as to what's possible. This talk is 50 minutes in length.
Powerful Google developer tools for immediate impact! (2023-24 C)
Powerful Google developer tools for immediate impact! (2023-24 C)
wesley chun
Slides from the presentation on Machine Learning for the Arts & Humanities seminar at the University of Bologna (Digital Humanities and Digital Knowledge program)
Handwritten Text Recognition for manuscripts and early printed texts
Handwritten Text Recognition for manuscripts and early printed texts
Maria Levchenko
How to convert PDF to text with Nanonets
How to convert PDF to text with Nanonets
How to convert PDF to text with Nanonets
naman860154
writing some innovation for development and search
Boost Fertility New Invention Ups Success Rates.pdf
Boost Fertility New Invention Ups Success Rates.pdf
sudhanshuwaghmare1
If you are a Domino Administrator in any size company you already have a range of skills that make you an expert administrator across many platforms and technologies. In this session Gab explains how to apply those skills and that knowledge to take your career wherever you want to go.
A Domino Admins Adventures (Engage 2024)
A Domino Admins Adventures (Engage 2024)
Gabriella Davis
Bajaj Allianz Life Insurance Company - Insurer Innovation Award 2024
Bajaj Allianz Life Insurance Company - Insurer Innovation Award 2024
Bajaj Allianz Life Insurance Company - Insurer Innovation Award 2024
The Digital Insurer
As privacy and data protection regulations evolve rapidly, organizations operating in multiple jurisdictions face mounting challenges to ensure compliance and safeguard customer data. With state-specific privacy laws coming up in multiple states this year, it is essential to understand what their unique data protection regulations will require clearly. How will data privacy evolve in the US in 2024? How to stay compliant? Our panellists will guide you through the intricacies of these states' specific data privacy laws, clarifying complex legal frameworks and compliance requirements. This webinar will review: - The essential aspects of each state's privacy landscape and the latest updates - Common compliance challenges faced by organizations operating in multiple states and best practices to achieve regulatory adherence - Valuable insights into potential changes to existing regulations and prepare your organization for the evolving landscape
TrustArc Webinar - Stay Ahead of US State Data Privacy Law Developments
TrustArc Webinar - Stay Ahead of US State Data Privacy Law Developments
TrustArc
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🐬 The future of MySQL is Postgres 🐘
🐬 The future of MySQL is Postgres 🐘
08448380779 Call Girls In Diplomatic Enclave Women Seeking Men
08448380779 Call Girls In Diplomatic Enclave Women Seeking Men
The Role of Taxonomy and Ontology in Semantic Layers - Heather Hedden.pdf
The Role of Taxonomy and Ontology in Semantic Layers - Heather Hedden.pdf
Finology Group – Insurtech Innovation Award 2024
Finology Group – Insurtech Innovation Award 2024
Scaling API-first – The story of a global engineering organization
Scaling API-first – The story of a global engineering organization
CNv6 Instructor Chapter 6 Quality of Service
CNv6 Instructor Chapter 6 Quality of Service
IAC 2024 - IA Fast Track to Search Focused AI Solutions
IAC 2024 - IA Fast Track to Search Focused AI Solutions
How to Troubleshoot Apps for the Modern Connected Worker
How to Troubleshoot Apps for the Modern Connected Worker
Automating Google Workspace (GWS) & more with Apps Script
Automating Google Workspace (GWS) & more with Apps Script
EIS-Webinar-Prompt-Knowledge-Eng-2024-04-08.pptx
EIS-Webinar-Prompt-Knowledge-Eng-2024-04-08.pptx
Axa Assurance Maroc - Insurer Innovation Award 2024
Axa Assurance Maroc - Insurer Innovation Award 2024
Mastering MySQL Database Architecture: Deep Dive into MySQL Shell and MySQL R...
Mastering MySQL Database Architecture: Deep Dive into MySQL Shell and MySQL R...
ProductAnonymous-April2024-WinProductDiscovery-MelissaKlemke
ProductAnonymous-April2024-WinProductDiscovery-MelissaKlemke
Powerful Google developer tools for immediate impact! (2023-24 C)
Powerful Google developer tools for immediate impact! (2023-24 C)
Handwritten Text Recognition for manuscripts and early printed texts
Handwritten Text Recognition for manuscripts and early printed texts
How to convert PDF to text with Nanonets
How to convert PDF to text with Nanonets
Boost Fertility New Invention Ups Success Rates.pdf
Boost Fertility New Invention Ups Success Rates.pdf
A Domino Admins Adventures (Engage 2024)
A Domino Admins Adventures (Engage 2024)
Bajaj Allianz Life Insurance Company - Insurer Innovation Award 2024
Bajaj Allianz Life Insurance Company - Insurer Innovation Award 2024
TrustArc Webinar - Stay Ahead of US State Data Privacy Law Developments
TrustArc Webinar - Stay Ahead of US State Data Privacy Law Developments
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