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本頁翻譯進度

燈號說明

審定:無
翻譯:李碩(簡介並寄信)
編輯:張欣茹(簡介並寄信)


Kohane教授的問題集
Problem Set from Prof. Kohane

這個問題集的目的是使你懂得當今遺傳測試對診斷和治療過程是如何重要。在這個問題集的結尾部分你也將知道:在基因層面上,對人類疾病和變更因數的認識如何在加大我們對病人治療的廣度和深度上起杠杆作用。你用來解決這個問題集的工具很簡單:一個網路瀏覽器、一個搜尋引擎(比如Google)和一個醫學文獻資料庫(比如PubMed)。
The purpose of this problem set is to familiarize you with just how central a genetic test is today to the diagnostic and therapeutic process. Toward the end of this problem set you will also become familiar with how the knowledge of the genomic extent of human disease and its modifiers can be leveraged to improve the breadth and depth of our care for our patients. The tools that you will use for this problem set are simple: a Web browser, a search engine (e.g., Google), and a medical literature database (e.g., PubMed).

一個24歲的男子,GM,出現在你的診室,他的脖子上有一個腫塊。觸診和影像學檢查證實他有甲狀腺結節腫。但是,經過精細的針穿刺活檢,你告知他沒有發現惡性腫瘤成分,但是這種活檢常會有漏診情況發生。在這時,你已經詢問過他的家族病史,他記得他的叔叔患有甲狀腺髓質癌(MTC),而且嘴唇和口腔中都出現了腫塊。他叔叔提到曾被告知帶有叫做"MEN IIB"的東西,是密碼子790突變的結果(不過他不記得這個基因的名字了)。你的病人在網上得知甲狀腺髓質癌有家族性,而且與其他一些惡性病相關。他想知道這種情況是否會發生在他身上,還有你會怎麼對他進行檢查。然後,他提到他有一個半血緣關係(同父異母或同母異父)的弟弟,PM,3歲,他不知道PM是否有潛在危險。他在雅虎網站找到了如下內容:
A 24 year old male, GM, presents in your clinic with a bump in his neck. Palpation and imaging confirms that he does have a thyroid nodule. However, after a fine needle biopsy you inform him that no malignancy was found but that such biopsies can often miss a thyroid malignancy. At that point, although you had previously asked about his family history, he remembers that his paternal uncle had Medullary Thyroid Cancer (MTC) and "bumps" on his lips and in his mouth. His uncle had mentioned something about being told he had something called "MEN IIB" and that "the mutation is on codon 790" (but he cannot remember the name of the gene). Your patient has surfed the web and has read that MTC can occur in families and is also associated with other malignancies. He wants to know if this applies to him and how you propose to work him up. He then mentions that he has a 3-year-old half-brother, PM, and wonders if PM is at risk. He had looked it up on Yahoo and found the following:

「甲狀腺髓質癌」雅虎健康頻道
"Medullary Carcinoma of Thyroid." Yahoo Health Web site.

你讀了上面連結的內容,但決定自己去做調查。
You read the contents of that link, but decide to do your own search.

你查閱了《內分泌摘要》,找到了如下內容:
You then do a search in Endocrine Abstracts and you find the following:

Shine ,B.:〈甲狀腺結節治療過程中的常規降鈣素測定:一種決定分析方法〉,《內分泌摘要》3:149
Shine, B. "Routine Calcitonin Measurement in Management of Thyroid Nodules: A Decision Analysis Approach." Endocrine Abstracts 3: 149.

診斷的另一種方法推薦位址如下:
Another approach to the diagnosis is suggested in
Baloch,Zubair.〈細胞學專刊:賓西法尼亞(Penn)網上案例Cyto01-1〉,賓西法尼亞大學 (University of Pennsylvania)健康系統網站,2002
Baloch, Zubair. " Cytology Special: Penn Web Case Cyto01-1."
University of Pennsylvania Health System Web site, 2002.

但是,因為你的病人提到他在網上查閱過資料,所以你也查閱了基因測試網站,並找到了一些可能有助於診斷的有趣的遺傳檢測方法。
But, because your patient had mentioned that he did a Web search you look up the GeneTests site and find some interesting genetic tests that might be useful for the diagnosis.

1.那個基因最有可能解釋GM的臨床表現?
1. What gene is most likely to explain GM's clinical findings?

2.GM會有什麼其他可能的臨床相關表現呢?你將如何對他進行檢查或者怎樣篩查他其他可能相關的臨床表現呢?畫一個可以替換圖一的決策樹狀圖.
2. What are the possible clinical associations for GM? How would you work him up or screen him for these other associations? Draw an alternative decision tree to the one shown in Figure 1.

Assignment: Figure 1, MTS

圖1,甲狀腺髓質癌(MTC)的病人(圖由Isaac Kohane教授提供)
Fig. 1. Patient With MTC (Image courtesy of Prof. Isaac Kohane.)

3.你將如何對他半血緣關係的弟弟PM進行檢查(評估)?如果他有和GM一樣的突變,他的治療將包括哪些方面?
3. How would you work up (evaluate) his half-brother, PM? And, if he has the same mutation as GM, what would his treatment consist of?

4.在對PM的檢查期間,你發現他便秘和水樣便的情況加重。這種現象能用前面提到的基因突變解釋嗎?詳細解答。
4. During the work-up of PM, you find that he has worsening constipation and watery stools. Is this explained by the aforementioned mutation? Elaborate.


 
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