病例报告:在马尔凡综合征中AFBN1框架转移和无意义突变和大动脉剖析
Chao Su1, Linjun Zeng2, Haocheng Lu2
1Division of Cardiovascular Surgery, Cardiac and Vascular Center, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.
Frontiers in cardiovascular medicine
|May 8, 2025
概括
马凡综合征 (MFS) 是一种影响结缔组织的遗传性疾病. 在一名患有严重心血管和骨问题的患者身上发现了一种新的FBN1基因突变,突出显示了早期遗传诊断和干预的必要性.
科学领域:
- 遗传学 遗传学 是一个
- 心血管医学 心血管医学
- 结合组织疾病 结合组织疾病
背景情况:
- 马凡综合征 (MFS) 是一种自体主导性疾病,影响心血管,眼睛和骨系统.
- 心血管并发症是MFS患者死亡的主要原因.
- 编码纤维素-1的FBN1基因的突变是MFS的主要原因.
相关概念视频
Case Studies
11.5K
There are many research methods available to psychologists in their efforts to understand, describe, and explain behavior and the cognitive and biological processes that underlie it.
11.5K
Methods of Documentation VI: Case Management Model
542
The case management model is a multidisciplinary approach that involves healthcare professionals from diverse disciplines, such as physicians, nurses, therapists, social workers, and pharmacists, working collaboratively to address the various needs of patients. Each healthcare professional brings unique expertise and perspectives, contributing to a more comprehensive understanding of the patient's condition and tailoring treatment plans accordingly.
For example, a patient with a chronic...
For example, a patient with a chronic...
542
SBAR II: Application of SBAR
4.2K
SBAR is an effective communication tool used by healthcare professionals to communicate patient information accurately. SBAR stands for Situation, Background, Assessment, and Recommendation. For a better understanding, an example is given below.
SBAR Report from a Nurse to a Health Care Provider
S: "Hello, Dr. Smith. This is Jane, RN, from the Med Surg unit. I am calling to tell you about Ms. White in Room 210, who is experiencing increased pain and redness at her incision site. Her recent...
SBAR Report from a Nurse to a Health Care Provider
S: "Hello, Dr. Smith. This is Jane, RN, from the Med Surg unit. I am calling to tell you about Ms. White in Room 210, who is experiencing increased pain and redness at her incision site. Her recent...
4.2K
Types of Reports II: Incident or Occurrence Report
753
An Incident or Occurrence Report in a healthcare setting is a crucial document used to record any unexpected occurrence that may or may not have affected a patient, employee, or visitor. Such reports are critical to improving patient safety and include all details leading up to and including the event.
Purposes:
In the healthcare industry, reports play a crucial role in documenting incidents within an agency. The primary objective of these reports is to ensure patient safety, uphold the...
Purposes:
In the healthcare industry, reports play a crucial role in documenting incidents within an agency. The primary objective of these reports is to ensure patient safety, uphold the...
753
Methods of Documentation V: CBE
809
Charting by Exception, or CBE, is a method of documentation used in healthcare, particularly in nursing, that focuses on documenting only significant or abnormal findings rather than recording every detail. This approach aims to streamline the documentation process, improve efficiency, and ensure that healthcare providers can quickly identify deviations from normalcy in patient assessments.
In CBE, healthcare professionals establish predefined standards of practice that define what constitutes...
In CBE, healthcare professionals establish predefined standards of practice that define what constitutes...
809
Introduction to Documentation and Reporting
1.5K
Documentation is the systematic process of formally recording, maintaining, and communicating information.
Nursing documentation records essential information and details regarding a patient's care and treatment in written or electronic form. It is a critical aspect of nursing practice that involves documenting assessments, interventions, outcomes, and other relevant details about a patient's health status.
Documentation maps the patient's health journey by creating a comprehensive...
Nursing documentation records essential information and details regarding a patient's care and treatment in written or electronic form. It is a critical aspect of nursing practice that involves documenting assessments, interventions, outcomes, and other relevant details about a patient's health status.
Documentation maps the patient's health journey by creating a comprehensive...
1.5K


