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For First Time, Doctors Treat Deadly Disease Before Birth

时间:2022-11-17 03:19:42

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(单词翻译)

Ayla Bashir, a 16-month-old girl from Ottowa, Canada, is healthy after doctors used a new method to treat her before she was born. She has a rare genetic2 disease that killed two of her sisters.

The disease, called Pompe, causes the body to fail to make some or all of an important enzyme3. But a new case study describes the new treatment method that seems to be working for Ayla.

The young girl's parents recently told The Associated Press their daughter is now an active, happy girl who is growing normally.

The couple previously4 lost two daughters, Zara, 2.5, and Sara, 8 months, to the condition. A third pregnancy5 was ended because of the disease, or disorder6.

The future for Ayla is hopeful but uncertain.

Dr. Karen Fung-Kee-Fung is a medicine specialist who works with fetuses8 at The Ottawa Hospital. She gave Ayla her treatments. The new method was developed by Dr. Tippi MacKenzie, co-director of the Center for Maternal-Fetal Precision Medicine at the University of California, San Francisco.

MacKenzie shared her research with Fung-Kee-Fung. "We were all motivated to make this happen for this family," MacKenzie said.

In this case, doctors delivered important enzymes9 to the mother through her stomach. The enzymes were then guided into the umbilical cord. Ayla received six treatments every two weeks, starting at about 24 weeks of fetal development.

Dr. Pranesh Chakraborty has cared for Ayla's family for years. He told the AP that what made the treatment highly effective was completing it early, while the fetus7 was still developing.

Pompe affects fewer than 1 in 100,000 newborns. It is caused by changes in a gene1 that makes an enzyme that breaks down glycogen, or stored sugar, in cells. When that enzyme is reduced or removed, glycogen builds up dangerously throughout the body.

In addition, the most severely10 affected11 babies, including Ayla, have an immune condition in which their bodies block the treatment enzymes. This eventually stops the treatment from working. The hope is that Ayla's early treatment will reduce that immune response.

Babies with Pompe disease have trouble feeding and experience muscle weakness. They often have very enlarged hearts. When left untreated, most babies die from heart or breathing problems during the first year of life. In addition to the girls who died, Ayla's parents have a 13-year-old son and a five-year-old daughter. Neither of those children were affected by the disorder.

For now, doctors are waiting to see whether the treatment can become a generally accepted form of treatment. Dr. Christina Lam is a biochemical genetics specialist at the University of Washington and Seattle Children's Hospital in Seattle. She said it will take some time to clearly demonstrate whether the results of the new treatment are better for patients.

Ayla receives drugs for her immune system and weekly enzyme treatments that take five to six hours. Unless a new method is found, Ayla is likely to continue the treatments throughout her life.

Her parents say that every step of progress, such as when she started to crawl, has been very special.

"It amazes us every time," said her mother, Sobia Qureshi. "We're so blessed. We've been very, very blessed."

Words in This Story

enzyme – n. a protein that changes or effects chemical reactions in the body

fetus – n. unborn offspring or animals or humans still in the uterus

motivate – v. to make someone or oneself encouraged or determined12 to do something

umbilical cord – n. the tube connecting the unborn baby to its mother, delivering food and oxygen

immune – adj. protected against something harmful such as disease by the formation of antibodies

crawl – v. to move forward on hands and knees


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1 gene WgKxx     
n.遗传因子,基因
参考例句:
  • A single gene may have many effects.单一基因可能具有很多种效应。
  • The targeting of gene therapy has been paid close attention.其中基因治疗的靶向性是值得密切关注的问题之一。
2 genetic PgIxp     
adj.遗传的,遗传学的
参考例句:
  • It's very difficult to treat genetic diseases.遗传性疾病治疗起来很困难。
  • Each daughter cell can receive a full complement of the genetic information.每个子细胞可以收到遗传信息的一个完全补偿物。
3 enzyme cPozF     
n.酵素,酶
参考例句:
  • Above a certain temperature,the enzyme molecule will become unfolded.超过一定温度,酶分子将会展开。
  • An enzyme that dissolves the fibrin of blood clots.能溶解血凝块中的纤维的酶。
4 previously bkzzzC     
adv.以前,先前(地)
参考例句:
  • The bicycle tyre blew out at a previously damaged point.自行车胎在以前损坏过的地方又爆开了。
  • Let me digress for a moment and explain what had happened previously.让我岔开一会儿,解释原先发生了什么。
5 pregnancy lPwxP     
n.怀孕,怀孕期
参考例句:
  • Early pregnancy is often accompanied by nausea.怀孕早期常有恶心的现象。
  • Smoking during pregnancy increases the risk of miscarriage.怀孕期吸烟会增加流产的危险。
6 disorder Et1x4     
n.紊乱,混乱;骚动,骚乱;疾病,失调
参考例句:
  • When returning back,he discovered the room to be in disorder.回家后,他发现屋子里乱七八糟。
  • It contained a vast number of letters in great disorder.里面七零八落地装着许多信件。
7 fetus ekHx3     
n.胎,胎儿
参考例句:
  • In the fetus,blood cells are formed in different sites at different ages.胎儿的血细胞在不同时期生成在不同的部位。
  • No one knows why a fetus is not automatically rejected by the mother's immune system. 没有人知道为什么母亲的免疫系统不会自动排斥胎儿。
8 fetuses eae25b106f4ed68558631a5bf44c9293     
n.胎,胎儿( fetus的名词复数 )
参考例句:
  • DNA was extracted from fetuses at mid-gestation, about 10 days past conception. DNA从受孕大约10天后的中期妊娠胚胎中提取。 来自互联网
  • Brucellosis is a disease that causes fetuses to abort in cattle. 普鲁士菌病是一种可以导致牲畜胎儿夭折的疾病。 来自互联网
9 enzymes 7881ad8ce9c83424f7874e70266ed2d8     
n. 酶,酵素
参考例句:
  • It was said that washing powders containing enzymes remove stains more efficiently. 据说加酶洗衣粉除污更有效。
  • Among the enzymes which are particularly effective are pepsin, papain. 在酶当中特别有效的是胃朊酶、木瓜酶。
10 severely SiCzmk     
adv.严格地;严厉地;非常恶劣地
参考例句:
  • He was severely criticized and removed from his post.他受到了严厉的批评并且被撤了职。
  • He is severely put down for his careless work.他因工作上的粗心大意而受到了严厉的批评。
11 affected TzUzg0     
adj.不自然的,假装的
参考例句:
  • She showed an affected interest in our subject.她假装对我们的课题感到兴趣。
  • His manners are affected.他的态度不自然。
12 determined duszmP     
adj.坚定的;有决心的
参考例句:
  • I have determined on going to Tibet after graduation.我已决定毕业后去西藏。
  • He determined to view the rooms behind the office.他决定查看一下办公室后面的房间。

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