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VOA慢速英语:医学界首次实现对庞贝氏症的产前治疗

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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 genetic disease that killed two of her sisters.

艾拉·巴希尔是一名来自加拿大渥太华的16个月大的女孩,在她出生前,医生使用了一种新方法对她进行治疗,现在她很健康。她患有一种罕见的遗传病,这种遗传病导致她的两个姐姐死亡。

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

这种疾病被称为庞贝氏症,它会导致人体无法产生一种重要的酶或只产生一部分这种酶。但一项新病例研究描述了一种似乎对艾拉有效的新治疗方法。

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

小女孩的父母最近告诉美联社,他们的女儿现在是一个正在正常成长的活泼、快乐的女孩。

The couple previously lost two daughters, Zara, 2陆, and Sara, 8 months, to the condition. A third pregnancy was ended because of the disease, or disorder.

这对夫妇之前失去了两个女儿,2.5岁的扎拉和8个月大的萨拉。第三次妊娠因为这种疾病而终止。

The future for Ayla is hopeful but uncertain.

艾拉的未来充满希望,但也充满不确定性。

Dr. Karen Fung-Kee-Fung is a medicine specialist who works with fetuses 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.

凯伦·冯基峰医生是渥太华医院胎儿医学专家。她给艾拉治疗。这种新方法是由加利福尼亚大学旧金山分校母胎精准医学中心联合主任蒂皮·麦肯齐博士开发的。

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

麦肯齐与冯基峰分享了她的研究成果。麦肯齐说:“我们都被激励着为这个家庭实现这一切。”

In this case, doctors delivered important enzymes 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.

在这种情况下,医生通过母亲的胃将重要的酶输送给她。然后,这些酶被输送到脐带。艾拉每两周接受六次治疗,从胎儿发育约24周开始。

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 fetus was still developing.

普拉内什·查克拉博蒂医生多年来一直在照顾艾拉的家人。他告诉美联社,这种治疗方法非常有效的原因是在胎儿仍在发育的情况下及早完成治疗。

Pompe affects fewer than 1 in 100,000 newborns. It is caused by changes in a gene 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.

患庞贝氏症的新生儿比例不到十万分之一。它是由一种基因的变化引起的,这种基因产生一种酶,这种酶可以分解细胞中的糖原或储存的糖。当这种酶减少或被去除时,糖原就会以危险的方式在全身积聚。

In addition, the most severely affected 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.

此外,受影响最严重的婴儿,包括艾拉,都有免疫系统疾病,他们的身体会阻止治疗酶。这最终会阻止治疗起作用。医生希望艾拉的早期治疗将会减少这种免疫反应。

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.

患有庞贝氏症的婴儿进食困难,肌肉无力。他们的心脏通常非常宽大。如果不及时治疗,大多数婴儿在出生一年内就会死于心脏或呼吸问题。除了去世的两个女儿,艾拉的父母还有一个13岁的儿子和一个5岁的女儿。这两个孩子都没有受到这种疾病的影响。

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.

目前,医生们正在等待,看这种疗法能否能成为一种普遍接受的治疗方式。克里斯蒂娜·林博士是华盛顿大学和西雅图儿童医院的生化遗传学专家。她说,还需要一些时间才能清楚地证明这种新疗法的结果是否对患者更好。

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.

艾拉接受免疫系统药物治疗和每周五到六个小时的酵治疗。除非找到新的方法,否则艾拉很可能会终生继续接受这种治疗。

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

她的父母说,她的每一次进步,比如她开始爬的时候,都是非常特别的。

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

她的母亲索比亚·库雷希说:“每一次都让我们惊讶。我们太幸运了。我们一直非常非常幸运。”

I'm Andrew Smith.

安德鲁·史密斯报道。

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 genetic disease that killed two of her sisters.

The disease, called Pompe, causes the body to fail to make some or all of an important enzyme. 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 previously lost two daughters, Zara, 2½, and Sara, 8 months, to the condition. A third pregnancy was ended because of the disease, or disorder.

The future for Ayla is hopeful but uncertain.

Dr. Karen Fung-Kee-Fung is a medicine specialist who works with fetuses 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 enzymes 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 fetus was still developing.

Pompe affects fewer than 1 in 100,000 newborns. It is caused by changes in a gene 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 severely affected 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."

I'm Andrew Smith.

________________________________________________________________

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 determined 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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