Rare but Deadly(在线收听

Rare but Deadly

 

By Susan Brink /©2005,

U.S. News & World Report.

All rights reserved with permission.

Distributed by Tribune Media Services International.

 

 

Simple, cheap blood tests could save thousands of kids’ lives every year

 

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Two cousins, two babies, two outcomes. The six years between the births of Toni Cline’s daughter and her cousin Sharon Allen’s son made all the difference between tragedy and joy. Kasie Cline died in 1991 of a rare disorder known as MCAD. “She was very sweet, very easygoing,” says Toni. Perhaps too easygoing. She slept through the night almost immediately. Her parents had to wake her to feed her in the morning. “How many people wake up their infants?” she says. Now she knows that Kasie’s glucose level dropped abnormally during the night, making her lethargic. It would rise with her morning feeding, setting her right for the day. One morning, when Kasie was 9 months old, her parents tried to wake her and found her limp, her breathing shallow. The Clines called 911, but Kasie died of cardiac arrest in the hospital. Doctors later discovered Kasie had had MCAD.

 

Joshua Allen, born in 1997 with the same disorder, is today a healthy, energetic 7-yearold. What happened after Kasie’s death and before Joshua’s birth was the development of technology called tandem mass spectrometry, capable of screening newborn infants for MCAD as well as a variety of other rare disorders. With screening, physicians and metabolic nutritionists can develop treatment plans to save lives.

 

Too late

 

Without screening, the disorders are discovered only when the infant becomes deathly ill. Consequences of delayed treatment of these hidden disorders can include seizures, retardation and death.

 

The American College of Medical Genetics’ newborn screening panel recommends that screening for 29 rare disorders become routine in the examination of newborns. All are treatable if discovered early, and none is obvious to pediatricians in the hospital nursery.

Vocabulary Focus

easygoing (adj) [5i:zi^EuiN] relaxed and not easily upset or worried

lethargic (adj) [le5WB:dVik] lacking energy; feeling unwilling and

unable to do anything

screen (v) [skri:n] to test or examine people or things to discover

if there is anything wrong with them

 

Specialized Terms

glucose (n) 葡萄糖 the main sugar that circulates in the blood and the primary supply of energy for the body; a type of sugar found in plants, especially fruit

cardiac arrest (n) 心脏衰竭;心跳停止 a condition in which the heart suddenly stops beating; a heart attack

tandem mass spectrometry (n) 串联质谱技术 a process used in medical laboratories to sort and weigh samples that are then broken down into smaller pieces, sorted and weighed again; the procedure is used in newborn screening to detect molecules such as the building blocks of proteins and fatty acids

metabolic nutritionist (n) 新陈代谢营养师 a registered dietician specializing in nutritional assessment and treatment of the chemical processes in the body that cause food to be used for energy and growth

seizure (n) (病的)发作;痉挛 a very sudden attack of a condition involving violent movement, unconsciousness or both

retardation (n) 智能障碍 the condition of having a limited ability to learn or understand; slow development

pediatrician (n) 儿科医师 a doctor with special training in medical care for children

罕见却致命的疾病

 

简单、价格低廉的验血,每年可拯救数以千计的儿童生命

 

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一对表姐妹,两个婴儿,两种结果。托妮·克莱的女儿与托妮表妹莎朗艾伦的儿子出生相隔6年,这6年的差距带来悲剧与喜悦的天壤之别。克莱于1 9 9 1年因患有罕见的中链脂肪酸脱氢酶缺乏症(MCAD)死亡。托妮说:“凯丝很贴心,脾气非常温和。”但或许是过于温和了。丝夜晚几乎可以立即入睡直到天明,而父母早上则必须唤醒她才能喂奶。托妮说:“有多少父母需要叫醒新生儿?”如今托妮知道丝的血糖值于夜晚异常下降,令她昏昏欲睡,白天喂奶后则上升,让她恢复体力。9个月大时的某一天早上,父母设法叫醒她时发现她软弱无力,呼吸微弱。克莱夫妇赶紧拨打911求救,但丝仍在医院死于心力衰竭。医师们后发现丝患有MCAD

乔舒亚·艾伦于1997年出生,也患有同样疾病,但今天却是一个健康、精力充沛的7岁男孩。在凯丝死亡后至乔舒亚出生这段时间,串联质谱技术问世,可为新生儿检出MCAD及其它各种罕见疾病。医师及新陈代谢营养师利用筛检,可拟定拯救幼小生命的计划。

 

为时已晚

若无筛检,这些疾病只有当婴儿病危时才会被发现。这些隐性疾病因延误就医而导致的后果包含痉挛、智能障碍及死亡。

美国医学遗传学院新生儿筛检委员会建议,新生儿身体检查时应例行筛检29种罕见疾病。虽然所有罕见疾病若及早发现都可治疗,但其症状对医院育儿室的儿科医师而言,并不明显。

  原文地址:http://www.tingroom.com/lesson/pengmenghui/26454.html