講CUHK單嘢都講到口臭,今日想講下現代醫學急速發展,科學醫學基因學一日千里後對醫學院學生同初級醫生嘅影響
拿,頭盔,我唔係故意要同senior們作對,而係有d好重要嘅概念我覺得一路都無人address過。而醫學界仍然有股好重嘅「當年都係咁捱咁讀,點解你咁多意見」嘅風氣
的確,當年前輩們嘅非人on call生活、要去library睇文獻睇書而唔係方便地用Microsoft surface神速打筆記、開uptodate、開pubmed/medline等等。
無可否認,上個年前代嘅醫生們要增進知識要靠嘅自動波去睇論文去溫書,甚至要自己去R導師做臨床教學等等。無人否認當年環境無咁豐富,上堂無精美PowerPoint、臨床教學今時今日已經好structured,分哂history session, examination session, skills session,有像真度極高嘅假人俾你練習,呢d係上代無嘅luxuries
No one is denying this fact
但上一代都一樣無嘅係咩,大家有無諗過?
就係千千萬萬種過去20年發展出來嘅科學醫學理論同治療方法。
O&G 幾十年前都未知道preeclampsia嘅實際原因係乜,原來可以early pregnancy low dose aspirin prevent or delay onset of preeclampsia。廿年前都無HPV疫苗, 都無話原來screen HPV virology比Pap smears更有效發現子宮頸病變,廿年前無人需要知道呢d
Rheumatology幾十年都無一堆biologics, TNFa, IL inhibitor 。原來autoimmune inflammatory arthritis failed NSAID/MTX可以轉infliximab, adalimumab。psoriatic可以用secukinumab但如果有IBD/enteropathic features要小心IL-17 inhibitor,廿前年無人需要知道呢d
Immunology/ID,幾十年前HIV邊有咁多種antiretroviral?今時今日ART多到就算你de novo resistance都可以換藥換到U=U,廿年前都係得舊式治療,無人需要知種種嘅新式療法。immunology仲多咗幾十種唔同嘅complement, complement inhibitor etc etc嘅investigation
Respiratory醫ILD或pulmonary HTN幾十年前個療法來來去去都係得幾種。今時今日IPF有nintedanib,Pul HTN有成堆endothelin antagonist、PDE5 inhibitor同prostacyclin類嘅藥要知。asthma當年來來去去都係ventolin+inhaled/oral steroid,今時今日分埋IgE asthma, eosinophilic asthma,有成堆唔同嘅SABA-LABA, SAMA-LAMA, IgE monoclonal antibodies, IL-5, IL-4 and IL-13,到底eosinophil要幾多先會大機會有response,用緊steroid嘅eosinophil個cutoff係幾多。
Hematology/oncology幾十年前都未有monoclonal antibodies,無rituximab、nivolumab、targeted therapy等等,幾十年來個發現多咗好多唔同gene mutation同targeted site,EGFR, VEGFR, CTLA-4, PD-1,PD-L1、BRAF,HER-2, you name it you got it。以前癌症病人你大多只要beware of neutropenic fever/infection,今時今日你要screen埋immune checkpoint inhibitor autoimmune hepatitis, pneumonitis, thyroditis, colitis,你要知埋有個病人用緊nivolumab時突然變黃,你要screen咩autoimmune,落咩藥,high dose steroid定點,之後仲可唔可以rechallenge。乳癌病人HER-2依加唔止用herceptin,仲有埋pertuzumab,你仲要screen埋cardiomyopathy,echo drop幾多可以接受,係唔係reversible,可唔可以rechallenge
Endocrine幾十年前糖尿病來來去去都係metformin, gliclazide, insulin今時今日T2DM有GLP-1, SGLT-2, gliptin等等,有埋continuous glucose monitoring device又有bump又有唔同林林總總嘅治療。唔止T1/T2DM,今時今日仲有埋LADA,你要知埋個autoimmune panel screen咩。骨質疏鬆當年玩來玩去都係bisphosphonate,今時今日有denusumab有teriparatide,仲有更多新藥。
Gastroenterology幾十年前IBD來來去去都係steroid/steroid sparing agent 5-ASA/aza,今時今日有TNFa blocker有a4b7 inhibitor vedolizumab。當年hepC得幾種antiviral今時今日有sofosbuvir, velpatasvir, glecaprevir等等,仲變成curative。
Neurology MS幾十年前邊有natalizumab,今時今日如果MS on natalizumab with rapid neurological decline,你要諗埋會唔會可能係JC virus reactivation。GBM以前都係只靠surgical resection,今時今日可以用avastin, temozolomide仲要screen埋MGMT hypermethylation去決定有無得用chemo
呢啲改變同發展只係佔各system嘅一小部分,只係我細小嘅腦袋突然諗到嘅小部分內容。世界不斷發展,學海無涯,我們有愈來愈多嘅知識要學,呢一點無人懷疑過。
醫生擁有比一般人更多嘅權力同地位,就自然需要更大嘅責任。
但係,值得大家反思嘅係,當個knowledge base不斷擴大嘅時候,考試仍然要期望你記埋某張slide嘅角落嘅minute details時,呢個係唔係一個合理嘅期望?
當一個basic trainee去考PACES/long case嘅時候,到底係唔係同以前一樣要知得咁深入?當深度一樣,而個base不斷widen broaden時,新世代嘅醫生應該如何應對?
而考試嘅範圍似乎未有被address過,呢點好值得我地一齊諗諗
gene mutation 在 Mama's Infinity Love Facebook 的最讚貼文
Yayyy we had unlocked our DNA!! 🤩
Super excited to receive the comprehensive DNA analysis report from CircleDNA Uncovering 500+ health insights!
The 1st thing we chiong to see is the Early Detection section. Honestly quite nervous when going thro the results! Feel glad that everything is good (no cancer causing mutation is detected) 🙏 Also love how they tested 140 of our genes against various of cancers.
I also had no clue my risks in developing glaucoma, diabetes & fatty liver disease are higher than usual! There is recommendation section in the report so I know what I can do! Brilliant! I was suggested to substitute white rice with brown rice is a good start to control my blood cholesterol & glucose lev.
No wonder based on my DNA, my recommended optimal diet type is low carb!
As me & hubby move into 2021, we learn to focus more on healthy lifestyle. With all these useful results/ info, allows us to understand & improve our lifestyle & make more mindful choices. Prevention is better than cure! 💪
Others interesting fact:
🧬I'm 4% vietnamese. He is 3% Jap & Korean.
🧬We both are a super-taster! However, this is both a blessing & a curse: bitters are more bitter, sweets are also sweeter. Lol
🧬We have a lower appetite control. No wonder jiak jiak jiak 🙈
🧬I'm a morning person instead of a night owl! Omg this is really something unexpected! Should adjust my schedules & lifestyle accordingly to be able to function at optimal levels & to feel my best🥰
🧬Younger skin age. This suggests that i may look younger than my age. Really happy to know this 🤭🥰
🧬Base on the genetic test results, I am likely to have a high response to endurance-based activities: cycling, swimming/running.
I would recommend this DNA test for couple who is doing family planning too. Understand if you carry a genetic condition that you may pass on to your unborn child & take action.
Curious to discover your gene-uine self? 🧐🧬 Use [𝐌𝐀𝐌𝐀𝐒𝐈𝐍𝐅𝐈𝐍𝐈𝐓𝐘𝟑𝟑] to get your CircleDNA Kit for 33% OFF when you checkout at circledna.com Don’t miss it! 😉
#CircleDNAChangeMaker #CircleDNAYourLife #ShareTheLove
#BeTheChangeYouWantToSee
#healthy #lifestyle #dnatest
#couplegoals #marriagegoals #sgfamily #sgmummy #sgpromo #healthylife #eatlean #exercise #itsmar21
gene mutation 在 李木生醫師 Facebook 的最佳解答
上個月是世界乳癌月,因為有乳癌基因BRCA1與BRCA2的突變(統稱BRCA) 而做預防性乳房切除的議題再次被討論。女性大眾一生中約有八分之一的機率會得到乳癌,如果不幸有 BRCA 基因突變的女性則約有 80% 的機率會得乳癌 。(40% 的機率得卵巢癌)
很顯然有這個基因突變會大幅增加得到乳癌的機率。再者,有突變病人的乳癌比其他人更難治療也更容易復發。影星安潔莉娜∙裘莉就是因爲有這個基因的突變而決定做預防性的全乳房與卵巢切除。但為什麼各國的婦產科醫學會大都不推薦所有女性做BRCA 突變的檢測? 早點知道基因檢測的結果會有壞處嗎?我自己尋找資料後希望與各位分享我的想法,希望大家能更了解這個題目。
基因是人體細胞內含的遺傳資訊單位,它像是身體裡的零件製造代碼,代碼寫錯時做出來的零件就會有問題,而代碼的儲存媒介是雙股DNA,它像拉鏈一樣接合以便保存遺傳資訊,待基因需要表現時細胞會把DNA像拉鏈一樣拉開,轉錄為mRNA 最終轉譯為蛋白質,而各種不同的蛋白質表現成了各種細胞的變化,形成外在人與人之間不同的表現 如酒渦或髮線。(可惜的是我兩者都沒有)顯性的基因變化代表只要從父母任一方遺傳到這個變化便會表現出來,隱性的基因變化代表必需從父母雙方都遺傳到這個變化才會表現出來。BRCA 屬於顯性基因。
健康BRCA基因製造的蛋白質可以抑制細胞不正常的增生而突變的結果,造成所製造的蛋白質無法有效的抑制細胞增生進而產生癌症,約400個人就有一個帶有此突變,對個人來說,只要花幾千塊可以找到這個高度致癌因子是否存在有何不可?在美國婦產科學會的調查中,只有40% 的醫生認為每位女性都可以做 ,我認為原因在於檢測結果的後續行動,在目前的科技下還沒有專家們明確的共識。 雖然有些方法可以降低BRCA突變病人發生乳癌的風險(如吃藥或手術)姑且不論這些方法本身含有的風險,但陽性不代表一定會得乳癌,而陰性也不代表得乳癌的機率會大幅降低。 (約90% 的乳癌病人都沒有BRCA突變) 所以尤其是對於無其他風險的健康女性來說 ,檢測結果背後意義,其複雜度與心理負擔遠比一般的抽血(如膽固醇檢測) 來的大許多,而其必要性也可受討論。
目前國際上的共識是除了需要詳盡的檢測前基因諮詢外,也建議已經有其他危險因子,如家族史 年齡早發(50歲前)乳癌,同患乳癌與卵巢癌的病人考慮做基因檢測,才會有比較大的幫忙。希望這些想法能幫助考慮做乳癌基因檢測的各位做參考,有不詳盡的方面也請多包涵。
======================================================================
The breast cancer genes BRCA1 and 2 (BRCA) made its biggest fame with Angelina Jolie’s decision to undergo preventive breast and ovary surgical removal after learning she carries a pathogenic mutation of BRCA. There is about a 1 in 8 chance of getting breast cancer in a woman’s lifetime. With the BRCA mutations, the risk of developing breast cancer can be as high as 80%. (and about 40% chance of developing ovarian cancer).
Having a pathogenic mutation in BRCA greatly increases the risk of developing breast cancer (and ovarian cancer). Moreover, breast cancer in patients with BRCA mutation tends to be more aggressive and more likely to recur. It seems intuitive to screen for BRCA mutation in every woman. However, most professional bodies around the world do not recommend routine BRCA testing because the carrier rate is low (approximately 0.25% in the general population). Also, there is no conclusive evidence on non-surgical methods of risk reduction. (Hormone antagonists such as Tamoxifen has only been shown to reduce breast cancer in the general population but not patients with BRCA mutation)
Prophylactic mastectomy and oophorectomy is very effective at reducing the risk of breast ( 50% reduction) and ovarian cancer (80% reduction) in patients with BRCA mutation, although the risk is not completely eliminated. However, not everyone who carries the BRCA gene will develop breast/ovarian cancer, so there is potentially an unnecessary surgical risk if one chooses to undertake prophylactic surgery.
Pre-test genetic counselling should be considered in everyone who wishes to take the BRCA testing. Currently the recommendation for women is those who have a strong family history of breast cancer, breast cancer younger than 50 years of age or patients with both breast and ovarian cancer.
========================================================================
BRCA: The Breast Cancer Gene [Internet]. National Breast Cancer Foundation. [cited 2020 Nov 29]. Available from: https://www.nationalbreastcancer.org/what-is-brca/
Kim E-K, Park SY, Kim S-W. Clinicopathological characteristics of BRCA-associated breast cancer in Asian patients. J Pathol Transl Med. 2020 May 14;54(4):265–75.
Hung F-H, Wang YA, Jian J-W, Peng H-P, Hsieh L-L, Hung C-F, et al. Evaluating BRCA mutation risk predictive models in a Chinese cohort in Taiwan. Scientific Reports. 2019 Jul 15;9(1):10229.
Sung P-L, Wen K-C, Chen Y-J, Chao T-C, Tsai Y-F, Tseng L-M, et al. The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels. PLOS ONE. 2017 Sep 29;12(9):e0185615.
gene mutation 在 Mutations (Updated) - YouTube 的美食出口停車場
Join the Amoeba Sisters as they explain gene and chromosome mutations, and explore the significance of these changes. This updated video has ... ... <看更多>