National Taiwan University (NTU) Hospital’s Newborn Screening Center has worked with hospitals and clinics across Taiwan, conducting screening for around 120,000 newborns between 2014 and 2016 and finding eight babies with spinal muscular atrophy (SMA). Two of the babies have been transferred to a different hospital to receive treatment.
SMA is a recessive genetic disease. According to Chien Yin-hsiu, a doctor at NTU Hospital’s Department of Medical Genetics and Department of Pediatrics, SMA patients may appear no different from healthy children in the first one or two months after their birth, but they will gradually lose the ability to move their limbs, to breath and to swallow, which eventually leads to death, usually around the age of one. However, in some cases, the onset of SMA does not occur until the patient is 10 or 20 years old, or even older.
Through extensive newborn screening, NTU Hospital has proven that SMA can be diagnosed in newborns through such screenings. The research was published in the July issue of the Journal of Pediatrics. Now hospitals in the US and Japan have followed NTU Hospital’s footsteps and started conducting SMA screening for newborns.
Photo: CNA
照片:中央社
According to statistics, if untreated or unaided by ventilators, only 10 percent of children with SMA reach their first birthday. However, children who begin receiving treatment before the onset of the disease may have reduced symptoms and higher survival rates.
(CNA, Translated by Tu Yu-an)
從二○一四年到去年,台大醫院新生兒篩檢中心整合全台醫療院所,為十二萬嬰兒進行篩檢,找到八名患有脊髓型肌肉萎縮症的嬰兒,並轉介其中兩人進行治療。
脊髓型肌肉萎縮症是隱性遺傳疾病。台大醫院基因學部暨小兒部主治醫師簡穎秀說,患童剛出生一、兩個月內可能很正常,但四肢會漸漸不能動,呼吸跟吞嚥也會有困難,之後約在一歲時死亡,但有些病患也可能在十歲或二十歲以後才會發病。
台大團隊透過大規模篩檢證實脊髓型肌肉萎縮症患嬰可經由篩檢確認,成果已發表於今年七月的《小兒科期刊》。現在美國、日本團隊也都追隨台大腳步,為新生兒進行該病症的篩檢。
根據統計,罹病的孩子如果沒有治療或使用呼吸器,九成活不過一歲,但若在發病前開始藥物治療,可延緩症狀並提升孩子的活存率。
(中央社)
Historians are rethinking the way the Holocaust is being presented in museums as the world marks the 80th anniversary of the liberation of the last Nazi concentration camps this month. Shocking images of the mass killings of Jews were “used massively at the end of World War II to show the violence of the Nazis,” historian Tal Bruttmann, a specialist on the Holocaust, told AFP. But in doing so “we kind of lost sight of the fact that is not normal to show” such graphic scenes of mass murder, of people being humiliated and dehumanized, he said. Up to this
When people listen to music today, they typically use streaming services like YouTube or Spotify. However, traditional formats like vinyl records have regained popularity in recent times. Vinyl records are circular discs that store music in grooves on their surfaces and are played on a turntable. As the turntable’s needle runs along these grooves, it picks up vibrations and translates them into sound. The history of vinyl records dates back to the late 1800s, but material and technological challenges delayed mass production until the 1950s. Despite early versions having short playtimes and poor sound quality, vinyl records introduced a new era
A: Brazilian jiu-jitsu, known as “BJJ,” has become more and more popular. Even Hollywood stars like Halle Berry and Tom Hardy are obsessed with it. B: Some Asian stars, such as Taiwanese actor Eddie Peng and South Korean actor Lee Joon-gi, have also practiced this martial art. A: BJJ is not just a martial art, but also a combat sport. B: I’ve always wanted to try it, but I’m worried about getting injured. A: Diana Wang, a US doctor of physical therapy, is holding a BJJ seminar at PMA Brazilian Jiu-jitsu in Taipei Friday night. Let’s go check out how we
Dos & Don’ts — 想想看,這句話英語該怎麼說? 1. 能做的事都做了。 ˇ All that could be done has been done. χ All that could be done have been done. 註︰all 指事情或抽象概念時當作單數。例如: All is well that ends well. (結果好就是好。) All is over with him. (他已經沒希望了。) That’s all for today. (今天到此為止。) all 指人時應當作複數。例如: All of us are interested in his proposal. All of us are doing our best. 2. 我們這麼做有益於我們的健康。 ˇ What we are doing is good for our health. χ What we are doing are good for our health. 註︰以關係代名詞 what 引導的作為主詞的子句,動詞用單數。如: What he said is true. 3. 大家都沿著步道跑。 ˇ Everybody runs along the trail. χ Everybody run along the trail. 註︰everyone 是指一大群人,但在文法上一般用單數。 4. 桌上有一本筆記本和兩支筆。 ˇ There were two