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令人难以置信的十大畸形病例(上)

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Whether deformities are caused by genetics or environmental factors, they spark curiosity and awe throughout the world. Many who have them have accepted their differences and led fulfilling lives. Some have undergone risky surgeries to change their appearance. Some have joined the circus and embraced the label "freak" to make living. Others have concealed themselves to avoid people's reactions.

世界上所有人都对畸形(不论是先天还是后天环境所致)抱着一种既好奇又畏怯的心态。很多畸形患者接受了他们自身的"与众不同",努力让自己过得充实快乐。他们中的一些人冒着巨大的风险做整形手术,一些人则加入马戏团,上演一场与众不同的"畸形秀",另一些人则封闭自我,以避免人们的指指点点。

10.Cutaneous Horns

10.皮角

皮角

Cutaneous horns (cornu cutaneum) result when keratin manifests in a conical shape and protrudes outward from the skin. Lesions found at the base of these horns may be malignant or benign.

皮角是由锥形角质物异常增多而形成的突起状角化性皮损,有时表现为良性表皮增生,但偶可见恶性病变。
When cutaneous horns grow, they tend to be on people with fair skin, at an average age of 50. Sun-exposed areas of skin are most susceptible. A biopsy can help determine the cause because cutaneous horns are related to a variety of medical issues. Possibilities range from verruca to Bowen's disease. The majority of horns are benign, but about 20 percent are cancerous, and another 20 percent are pre-cancerous.Some people even choose to let their benign horns grow. If a horn does sprout on your forehead, you can at least now rest assured that you're probably not turning into a demon.
皮角常见于50岁左右的老年人,多长在皮肤曝光处。一般还要通过"活体组织检查"(biopsy)来分析其病因,因为它可能是一些疾病的并发症,比如病毒疣(verruca)或是博文氏病(Bowen's disease)。皮角多呈良性,但20%的皮角会发生癌变,另有20%属于癌前病变。一些人甚至放任良性皮角不管,任其自由生长。如果前额当真长出"角"来,那患者倒还可以松一口气,至少他不用担心自己会变成什么怪物。

9.Aniridia

9.无虹膜畸形

无虹膜畸形

Black eyes aren't necessarily a sign of pure evil. A condition called aniridia can cause absence of color in the iris, which may lead to weakened vision and sensitivity to light. This figures, as the literal translation of aniridia is "without iris." Further conditions, such as glaucoma and cataracts, are likely to occur along with aniridia. Sufferers may be legally blind, may see well enough to drive, or may even have 20/20 vision.

黑洞洞的眼睛并不一定就是邪恶的象征,一种被称为"无虹膜"的畸形病症也能造成这样的无瞳孔状态,该病患者的视力通常会有所损害,并且极其畏光。对"无虹膜畸形"字面上的解释就是"没有虹膜",此病极有可能伴发青光眼(glaucoma)和白内障(cataracts)。患者也许是"法定盲",或许开车都不成问题,甚至可能拥有正常视力。
A gene mutation causes this condition. It occurs around the end of the first trimester of pregnancy, as the eye develops. Aniridia can be inherited; a parent with this condition has a 50-percent chance of passing it on to his or her child. Parents who each have a mutated copy of the PAX-6 gene may be at risk for having a child with Gillespie syndrome (autosomal recessive aniridia) and related cognitive disabilities.
这种病症是由基因突变引起的,这种突变发生于怀孕的第三个月末,眼睛差不多成型的时候。这是一种遗传性疾病,患有此病的父母有50%的可能性将其遗传给子女。父母中任意一方的PAX-6基因副本发生突变都有可能以常染色体隐性遗传的方式使子女患上无虹膜畸形病,甚至还会造成子女的认知障碍。

8.Backward-Bending Knees

8.膝反屈畸形

膝反屈畸形

People with genu recurvatum have knees that bend backward surprisingly far, sometimes creating an animal-like appearance. The most severe cases involve a congenital dislocation of the knees. Other cases involve differences in leg length or diseases such as cerebral palsy and multiple sclerosis. Another cause is physical trauma to the knee. It could happen while playing sports or in a car accident, for instance.

膝反屈患者的膝盖向后伸展过度,这使患者看起来像是某种动物。膝反屈畸形的病发原理多样,最为严重的要数先天性膝关节脱位,另外,两腿长短不一,大脑性麻痹和多发性硬化症也会造成膝反屈畸形。甚至在运动或车祸中造成的膝关节损伤都有可能发展成为膝反屈畸形。
Surgery and physical therapy can help treat the condition. Leg braces may also be used. Depending on how well treatment works, this condition may become a permanent disability for some individuals. To date, the most well-known case of genu recurvatum is that of Ella Harper, born in Tennessee circa 1870. Ella preferred to walk on all fours. She was dubbed "Camel Girl" and found great success in the role. She even starred in W.H. Harris's Nickel Plate Circus in 1886 and used the profits to better her life.
我们可以通过手术与理疗治疗这种病症,也可以采用下肢支具矫正腿型。但其疗效却不尽如人意,一些患者可能还是摆脱不了终身残疾的命运。1870年左右出生于田纳西州的艾拉·哈珀(Ella Harper)是迄今为止最为人所知的膝反屈患者。她行走时四肢着地,被称为"骆驼女孩"。她甚至在1886年受邀来到哈里斯(W.H. Harris)的Nickel Plate马戏团演出,并得到一笔乐观收入,自此过上幸福生活。

7.Prune Belly

7.梅干腹综合征

梅干腹综合征

Known more formally as Eagle-Barrett syndrome, prune belly syndrome causes extreme weakness in the abdomen. This leads to severe wrinkling and a prune-like appearance. The bladder of an Eagle-Barrett patient becomes permanently expanded and difficult to relieve, leading to further medical challenges. The genitalia, internal organs, and skeleton may also be negatively affected.

梅干腹综合征是一种先天性腹肌缺损病症。由于腹壁肌肉缺损,致使腹壁松弛,皮肤皱褶,形似"梅脯"。患者膀胱扩张,尿路受阻,进一步加大了治疗难度。此外,此病可能还会伴发肌肉骨骼畸形,心血管畸形,和生殖器畸形。
The cause of this condition is currently undetermined. It's possible that prune belly syndrome is hereditary, as multiple cases have been noted within families. Parents usually have fair warning. When a fetus is affected, the prune-like appearance of the belly is often visible through prenatal ultrasound, allowing for early diagnosis. Undescended testicles are another symptom. Nearly all Eagle-Barrett syndrome cases involve males—95 percent, to be exact. Children with this condition are often stillborn, and those who make it past delivery may die soon from related complications, but some do survive.
目前尚未找到病因,但有人认为这可能是一种遗传性疾病,因为同一个家庭中通常会有好几起这样的病例。所以患有此病的父母通常会被要求做产前超声波检查,根据胎儿的腹部形态来判断其是否受到遗传,以便进行早期诊治。先天隐睾则另当别论。95%的梅干腹综合症患者为男性,患有此病的新生儿多为死胎,即使婴儿侥幸存活,不久也会死于并发症之下,但也有一些例外存在。

6.Lobster Claws

6.螯状趾

螯状趾

People born with ectrodactyly tend to have deformities of both their hands and their feet. Varying degrees of surgery are used to correct this condition.

螯状趾是指手足发育畸形,可以通过手术矫正治疗。
Known commonly as split hand/foot malformation (SHFM), lobster claw syndrome involves missing fingers or toes along with gaping clefts in the sufferer's hands or feet. Fingers or toes are fused with other digits or webbed. If only one limb is deformed, it likely occurred due to a non-hereditary genetic mutation. If the hands and feet are all deformed, the condition was inherited. Parents who carry the gene have a 50-percent chance of passing it down to their offspring. Some choose to have children despite the high risk. Lobster claw syndrome is not related to more complicated medical conditions or mental barriers. The only challenge is learning to function with hands and feet shaped differently than most.
螯状趾综合症(又称手足裂畸形)患者通常表现为手指或脚趾缺失、手足分裂、或是指掌相融。一肢畸形很有可能是由非遗传性基因突变造成的,但如果手足均发育畸形,则很有可能是由遗传所致。携带有这种基因的父母有50%的可能性将其遗传给下一代。尽管遗传概率如此之大,一些患者还是会选择孕育孩子。螯状趾的治疗过程并不复杂,患者也不会有什么心理障碍,唯一的挑战就是要学会灵活操纵长短不一的手指和脚趾。

翻译:李念 来源:前十网

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therapy ['θerəpi]

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n. 疗法,治疗

 
range [reindʒ]

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v. 排

 
gene [dʒi:n]

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syndrome ['sindrəum]

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extreme [ik'stri:m]

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involve [in'vɔlv]

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skeleton ['skelitn]

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n. 骨架,纲要,骨骼,骨瘦如柴的人或动物,家丑

 
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