Gene mutation for diagnosing Marfan syndrome
A syndrome and gene technology, applied in the field of medical diagnosis, can solve the problems of incompletely clear pathogenesis and damage to the stability of elastic fibers, and achieve the effect of reducing the misdiagnosis rate, easy detection and accurate diagnosis.
- Summary
- Abstract
- Description
- Claims
- Application Information
AI Technical Summary
Problems solved by technology
Method used
Examples
Example Embodiment
[0033] Example 1 Genetic mutation screening of patients with Marfan syndrome and family members
[0034] A 37-year-old man was admitted to the hospital mainly because of "intermittent chest tightness and shortness of breath for more than 4 months, worsened by half a month". The patient developed chest tightness and shortness of breath after catching a cold 4 months ago, accompanied by inability to lie down at night, accompanied by cough and sputum, accompanied by fever, specific body temperature is unknown, accompanied by anorexia, accompanied by decreased urine output, no nausea, vomiting, dizziness, headache , Went to the local hospital to consider "heart failure pneumonia", and was given treatments such as correction of heart failure and anti-infection, and the symptoms improved and he was discharged. After discharge, the above symptoms still had intermittent episodes of the same nature and severity. They were treated with infusions at the local hospital 3 months ago and half ...
PUM
Abstract
Description
Claims
Application Information
- R&D Engineer
- R&D Manager
- IP Professional
- Industry Leading Data Capabilities
- Powerful AI technology
- Patent DNA Extraction
Browse by: Latest US Patents, China's latest patents, Technical Efficacy Thesaurus, Application Domain, Technology Topic.
© 2024 PatSnap. All rights reserved.Legal|Privacy policy|Modern Slavery Act Transparency Statement|Sitemap