案例报告:加勒比海的一个发展中国家的Turcot综合征2型
Melissa Daniel-Abdool1, Brandon Griffith1, Ute Bartels2
1Faculty of Medical Sciences, The University of the West Indies, St. Augustine, Trinidad and Tobago.
Frontiers in oncology
|March 29, 2024
概括
一个儿科骨髓母细胞瘤病例揭示了由于APC基因变异的图尔科特综合征2型. 这凸显了在治疗罕见儿科癌症方面需要专业诊断和国际合作的必要性.
科学领域:
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- 脑髓母细胞瘤是最常见的恶性儿科脑瘤.
- 它通常与遗传性癌症倾向综合征有关.
- 患者的家族病史中发现了结直肠癌.
研究的目的:
- 报告小儿科患者中一个独特的脑髓母细胞瘤病例.
- 强调基因检测在诊断罕见综合征方面的重要性.
- 展示医疗保健领域国际合作的好处.
主要方法:
- 一个12岁的女性患有脑髓母细胞瘤的病例报告.
- 使用世卫组织标准进行瘤分类 (世卫组织4级,Wnt亚型).
- 基因分析用于识别致病基因变异 (APC基因).
主要成果:
- 这名患者被诊断为Turcot综合征2型,原因是APC基因变异 [c.3183_3187del (p.Gln1062*) ].
- 患者接受了多式疗法,包括手术,放射和化疗.
- 患者目前在治疗后处于缓解期.
结论:
- 这一案例强调了诊断罕见的儿科癌症的复杂性.
- 获得专门的基因检测对于准确的诊断和管理至关重要.
- 低收入,中等收入和高收入国家之间的合作努力对于管理复杂的瘤病例至关重要.
相关概念视频
SBAR II: Application of SBAR
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...
Types of Reports I: Hand-off Report
A hand-off report, also known as a change-of-shift report, is a crucial nursing process that ensures the smooth transition of patient care responsibilities between nursing staff.
Following are the key components and categories of hand-off reports:
Purpose and Process:
Following are the key components and categories of hand-off reports:
Purpose and Process:
Types of Reports II: Incident or Occurrence Report
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...
Types of Reports III: Telephone and Verbal Reports
Telephone and Verbal Reports in healthcare settings are two communication methods for conveying therapeutic instructions from healthcare providers to nurses or other healthcare staff.
Here's an overview of each type:
Telephone Orders
Here's an overview of each type:
Telephone Orders
Turbine-Governor Control
Turbine-governor control is crucial for maintaining power system stability by balancing turbine mechanical power output with electrical load demand. This mechanism ensures that generator frequency and rotor speed are within acceptable limits during load variations. Turbine-generator units store kinetic energy due to their rotating masses; this energy is released to meet the load requirement when the load increases. The electrical torque of turbines rises to meet the demand, whereas the...
Types of Global Positioning System Surveys
GPS surveying methods vary in application, accuracy, and data collection techniques, catering to diverse surveying and mapping needs. Static GPS, kinematic GPS, and real-time kinematic (RTK) surveying are widely used. Each technique offers distinct advantages.Static GPS involves placing one receiver at a known reference point and another at the target point. It collects exact positional data by observing multiple satellite ranges over an extended period, achieving centimeter-level accuracy for...


