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泰国代孕发表在"生活"邮报

我有兴趣读了文章的部分“生活”的曼谷邮报

of Monday, May 27, 2013. It made me travel some 20 0r more years
星期一,2013年5月27日。它使我旅行了20年或更长的时间

back in time and recollect my time as a young Endocrinologist
回到过去,回忆我的时间作为一个年轻的内分泌学家

at the University of Lund in Sweden. At that time, genetic testing
在瑞典兰德大学。当时,基因检测

was a vision of the future.
是一个对未来的憧憬。

We knew of genes and of heredity, from family clustering of endocrine
我们知道基因和遗传,从家庭聚集性内分泌

diseases and the so-called Multiple Endocrine Neoplasia (MEN) syndromes.
疾病和所谓的多发性内分泌肿瘤(男性)综合征。

These conditions of hyperactivity (as well as under functioning in
这些条件的多动(以及在功能

the Polyglandular Autoimmune Syndromes) of the endocrine glands
该多腺体自身免疫综合征)的内分泌腺

fascinated me to the extend of obtaining a PhD in the area. We knew at
让我着迷的区域,获得博士学位的延伸。我们知道

that time that if there were someone in the family with medullary thyroid
那时候,如果有甲状腺髓样在家的人

cancer or MEN syndrome, we would need to test the whole family and
癌症或人综合征,我们需要测试整个家庭

relatives with a stimulation test (giving a person an injection of intravenous
一个刺激试验的亲戚(给人静脉注射

calcium or pentagastrin to stimulate calcitonin production), Several more blood
钙或五肽胃泌素刺激降钙素的生产),更多的血

samples were then collected over the next few minutes to measure the effect
然后将样品收集在接下来的几分钟来衡量的影响

of the stimulation. In people with very significant increases in their
刺激的。人们在极显著增加

levels of calcitonin during this test and we would discuss prophylactic
在这个试验中降钙素水平,我们将讨论预防

(preventive) thryroidectomy (remove the thyroid gland and receive
(预防)thryroidectomy(切除甲状腺和接收

substitution therapy for the rest of their lives). A difficult decision was
为他们的生活休息的替代治疗)。一个艰难的决定

made based on a clinical test that sometimes was equivocal or difficult
基于临床试验,有时是不明确的或困难的了

to interpret. Fortunately, a few years later, the gene for the syndrome
解释。幸运的是,几年后,该综合征的基因

(RED was identified and the process simplified with a simple blood test.
(红色被确定和简化工艺的一个简单的血液测试。

The decision is still a difficult one and involves a paradox. The words of one
决策仍然是一个困难的人是一个悖论。一个字

of my young patients, a member of alarge family where a l;ew members died
我的年轻患者,大量的家庭在我的一个成员;新成员死亡

in medullary thyroid cancer and of a BRGAl carrier that I recently read in
甲状腺髓样癌的brgal载体,最近我读

the New York Times, still echo in my ears: you can never know whether you
纽约时报,仍在我耳边回响:你永远不知道你是否

want to know until you already know. Indeed, the only ones that really can
要等到你已经知道知道。事实上,唯一可以的

answer the question "Do I want to know? are only the ones that already know,"
回答这个问题:“我想知道?只有那些已经知道,”

We as doctors can and should ONLY
我们作为医生应该只

offer objecti've advice. We should never imply
提供目标已经建议。我们永远不应意味着

that the decision is easy of difficult, emotional, or
这个决定是很容易的困难,情绪,或

physically demanding for that person.
体能要求很高的人。

It must be their decision based on facts
它必须是他们的决定基于事实

and not ours to make.
并不是我们做。

What Are the Facts?
事实是什么?

一个基因或基因组测试涉及人类染色体分析,

DNA, RNA, and/or gene products. (e.g. enzymes, metabolites, and other
DNA,RNA,和/或基因产物。(如酶,代谢产物,和其他

types of protein) all of which are predominately used to detect heritable
类型的蛋白质)是主要用于检测遗传

or somatic mutations, genotypes, or phenotypes related to disease,
或体细胞突变,基因型,或相关的疾病表型,

health, or identity, The purpose of genetic tests: predicting risk of disease,
健康,或身份,基因测试的目的:预测疾病风险,

screening newborns, directing clinical management, identifying carriers,
新生儿筛查,指导临床管理,识别载体,

and establishing prenatal is prognoses in individuals, families, as well as
建立产前是预后的个人,家庭,以及

for forensic and identity purposes. Simply explained, genes are inherited from
法医和身份的目的。简单的说,基因遗传自

our parents and always come in pairs, One copy is maternal and the other
我们的父母总是对的,一份是母亲和其他

one paternal. lf one gene copy is '-faulty" and the other intact, then you are
一个父亲。如果一个基因拷贝“故障”和其他的完整,然后你

a¨carrier". If both are "faulty" then in the so-called -'single gene disorders"
一个¨航母”。如果两者都是“错误的”,然后在所谓的'single基因疾病”

where a singe gene is responsible for the condition, yau w川 develop
在一个单一的基因是负责的条件下,油W川发展

that condition with 100% likelihood. Examples inctude but not Iimited
100%,条件似然。实例inctude但不限制

to thalassemia, sickle cell anemia, hemophilia, cystic fibrosis, muscular
地中海贫血,镰状细胞性贫血,血友病,囊性纤维化,肌肉

dystrophies, etc. What it means for the nonprofessional is that if you are
营养不良,等它意味着什么,非专业的,如果你是

a carrier, you should make sure that your life partner with whom you
一种载体,你应该确保你的生活与你的伴侣

plan having children should be tested to avoid an offspring with the
计划生育应进行测试,以避免与后代

condition you both carry.
条件你都携带。

In more than 80% of the children born with a hereditary condition,
在以上的孩子出世与遗传性条件80%,

it was not known in advance by the parents that they were carriers!
它是在事先不知道的父母,他们是运营商!

In the case of Thalassemia (and many other similar conditions), the previous
在地中海贫血病例(和许多其他类似条件),以前的

practice was performing an amniocentesis to decide if the fetus in
实践进行羊膜穿刺术决定如果胎儿

the womb was affected and an abortion was advised. Gruel, Emotionally
子宫的影响和堕胎的建议。粥,情绪

recovering from such a process is not easy. Nowadays, couples can
从这样一个过程的恢复是不容易的。如今,夫妻可以

through Preimplantation Genetic Diagnosis (PGD) select a disease free
通过胚胎植入前遗传学诊断(PGD)选择无病

embryo before implantation in the womb to ensure a healthy offspring.
胚胎在子宫内着床前确保一个健康的后代。

Moreover, cord blood stem cells can be collected from a PGD and HLA
此外,脐带血干细胞可以从一个PGD和HLA收集

(tissue antigen) matched sibling to treat the disease in en elder sibling
(组织抗原)匹配的同胞对待疾病在恩哥哥

through bone marrow stem cell transplantation, Knowing your risk enables
通过骨髓干细胞移植,了解你的风险使

you to avoid going through an abortion to terminate a pregnancy that
你要避免通过人工流产终止妊娠

would result in having a child that will be tormented by and succumb in
会有一个孩子将被折磨和屈服于

a condition that could have been avoided. Approxlmately 5-10% of all
一个条件,都是可以避免的。应该是5-10%的所有

cancers are hereditary, which means that changes (or mutations) in specific
癌症是遗传的,这意味着的变化(或突变)在特定的

genes are passed from one blood relative to another, Individuals who inherit
基因是通过从一个血相对于另一个继承人,个人

one of these gene changes will have a higher likelihood of developing
其中一个基因的变化,将有一个更高的发展的可能性

cancer within their lifetime, Gurrently, there is great understanding about
癌在他们的一生中,gurrently,有很大的了解

mutations in several genes that increase the risk for developing several
几个基因的风险增加发展的几个突变

types of cancer; however, not all genetic causes for all types of cancer
癌症;然而,并不是所有的遗传原因的所有类型的癌症

are yet identified, Hereditary Breast & Ovarian Cancer ~tndrome (BRCAl and 2:
还发现,遗传性乳腺癌和卵巢癌~ tndrome(BRCA1和2:

breast, ovary, prostate, pancreas, melanoma), Cowden (PTEN: intestines,
乳腺,卵巢,前列腺癌,胰腺,黑色素瘤),Cowden(PTEN:肠,

brain, breast, uterus, thyroid), Lynch, Muir-Torre, Turcot (MLHl MSH2,
脑,乳腺,子宫,甲状腺),美林,缪尔Torre,Turcot(MLH1 MSH2,

MSH6 0r PMS2: colorectal, endomettiaD, Li-Fraumeni (TP53: Soft tissue sarcomas,
MSH6和PMS2:结直肠癌,endomettiad,Li-Fraumeni(TP53:软组织肉瘤,

In more than 80% of the children born with a hereditary condition,
在以上的孩子出世与遗传性条件80%,

it was not known in advance by the parents that they were carriers!
它是在事先不知道的父母,他们是运营商!

In the case of Thalassemia (and many other similar conditions), the previous
在地中海贫血病例(和许多其他类似条件),以前的

practice was performing an amniocentesis to decide if the fetus in
实践进行羊膜穿刺术决定如果胎儿

the womb was affected and an abortion was advised. Gruel, Emotionally
子宫的影响和堕胎的建议。粥,情绪

recovering from such a process is not easy. Nowadays, couples can
从这样一个过程的恢复是不容易的。如今,夫妻可以

through Preimplantation Genetic Diagnosis (PGD) select a disease free
通过胚胎植入前遗传学诊断(PGD)选择无病

embryo before implantation in the womb to ensure a healthy offspring.
胚胎在子宫内着床前确保一个健康的后代。

Moreover, cord blood stem cells can be collected from a PGD and HLA
此外,脐带血干细胞可以从一个PGD和HLA收集

(tissue antigen) matched sibling to treat the disease in en elder sibling
(组织抗原)匹配的同胞对待疾病在恩哥哥

through bone marrow stem cell transplantation, Knowing your risk enables
通过骨髓干细胞移植,了解你的风险使

you to avoid going through an abortion to terminate a pregnancy that
你要避免通过人工流产终止妊娠

would result in having a child that will be tormented by and succumb in
会有一个孩子将被折磨和屈服于

a condition that could have been avoided. Approxlmately 5-10% of all
一个条件,都是可以避免的。应该是5-10%的所有

cancers are hereditary, which means that changes (or mutations) in specific
癌症是遗传的,这意味着的变化(或突变)在特定的

genes are passed from one blood relative to another, Individuals who inherit
基因是通过从一个血相对于另一个继承人,个人

one of these gene changes will have a higher likelihood of developing
其中一个基因的变化,将有一个更高的发展的可能性

cancer within their lifetime, Gurrently, there is great understanding about
癌在他们的一生中,gurrently,有很大的了解

mutations in several genes that increase the risk for developing several
几个基因的风险增加发展的几个突变

types of cancer; however, not all genetic causes for all types of cancer
癌症;然而,并不是所有的遗传原因的所有类型的癌症

are yet identified, Hereditary Breast & Ovarian Cancer ~tndrome (BRCAl and 2:
还发现,遗传性乳腺癌和卵巢癌~ tndrome(BRCA1和2:

breast, ovary, prostate, pancreas, melanoma), Cowden (PTEN: intestines,
乳腺,卵巢,前列腺癌,胰腺,黑色素瘤),Cowden(PTEN:肠,

brain, breast, uterus, thyroid), Lynch, Muir-Torre, Turcot (MLHl MSH2,
脑,乳腺,子宫,甲状腺),美林,缪尔Torre,Turcot(MLH1 MSH2,

MSH6和PMS2:结直肠癌,endomettiad,Li-Fraumeni(TP53:软组织肉瘤,

In more than 80% of the children born with a hereditary condition,
在以上的孩子出世与遗传性条件80%,

it was not known in advance by the parents that they were carriers!
它是在事先不知道的父母,他们是运营商!

In the case of Thalassemia (and many other similar conditions), the previous
在地中海贫血病例(和许多其他类似条件),以前的

practice was performing an amniocentesis to decide if the fetus in
实践进行羊膜穿刺术决定如果胎儿

the womb was affected and an abortion was advised. Gruel, Emotionally
子宫的影响和堕胎的建议。粥,情绪

recovering from such a process is not easy. Nowadays, couples can
从这样一个过程的恢复是不容易的。如今,夫妻可以

through Preimplantation Genetic Diagnosis (PGD) select a disease free
通过胚胎植入前遗传学诊断(PGD)选择无病

embryo before implantation in the womb to ensure a healthy offspring.
胚胎在子宫内着床前确保一个健康的后代。

Moreover, cord blood stem cells can be collected from a PGD and HLA
此外,脐带血干细胞可以从一个PGD和HLA收集

(tissue antigen) matched sibling to treat the disease in en elder sibling
(组织抗原)匹配的同胞对待疾病在恩哥哥

through bone marrow stem cell transplantation, Knowing your risk enables
通过骨髓干细胞移植,了解你的风险使

you to avoid going through an abortion to terminate a pregnancy that
你要避免通过人工流产终止妊娠

would result in having a child that will be tormented by and succumb in
会有一个孩子将被折磨和屈服于

a condition that could have been avoided. Approxlmately 5-10% of all
一个条件,都是可以避免的。应该是5-10%的所有

cancers are hereditary, which means that changes (or mutations) in specific
癌症是遗传的,这意味着的变化(或突变)在特定的

genes are passed from one blood relative to another, Individuals who inherit
基因是通过从一个血相对于另一个继承人,个人

one of these gene changes will have a higher likelihood of developing
其中一个基因的变化,将有一个更高的发展的可能性

cancer within their lifetime, Gurrently, there is great understanding about
癌在他们的一生中,gurrently,有很大的了解

mutations in several genes that increase the risk for developing several
几个基因的风险增加发展的几个突变

types of cancer; however, not all genetic causes for all types of cancer
癌症;然而,并不是所有的遗传原因的所有类型的癌症

are yet identified, Hereditary Breast & Ovarian Cancer ~tndrome (BRCAl and 2:
还发现,遗传性乳腺癌和卵巢癌~ tndrome(BRCA1和2:

breast, ovary, prostate, pancreas, melanoma), Cowden (PTEN: intestines,
乳腺,卵巢,前列腺癌,胰腺,黑色素瘤),Cowden(PTEN:肠,

brain, breast, uterus, thyroid), Lynch, Muir-Torre, Turcot (MLHl MSH2,
脑,乳腺,子宫,甲状腺),美林,缪尔Torre,Turcot(MLH1 MSH2,

MSH6 0r PMS2: colorectal, endomettiaD, Li-Fraumeni (TP53: Soft tissue sarcomas,
MSH6和PMS2:结直肠癌,endomettiad,Li-Fraumeni(TP53:软组织肉瘤,

Medicine will never be the same again. It will be Precise, Predictive,
医学将不再相同。这将是准确的,预测,

Preventive, Personalized, and Participatory. Gain of information and its
预防,个性化,参与性。信息增益

rational and balanced use never hurts. Knowledge empowers people,
合理和平衡的使用不会伤害。知识使人,

and enables them to make ratiOnal decisions. Everyone is capable to
使他们做出合理的决定。每个人都有能力

dec ide their (medical) destiny when properly informed and statis;tics and
决定他们的(医疗)的命运时,通知和统计;抽搐

probabilities are made simple and understandable, The latter is the duty
概率是简单易懂,后者是责任

of the medical professionals and it is usually where it falters. Genetics has
的医疗专业人士,这是通常在动摇。遗传学

come of age and testing results are actionable. As mentioned earlier,
来的年龄和测试结果是可行的。正如前面所提到的,

PGD can be used to prevent single gene disorders at conception and
PGD可以用来防止怀孕的单基因疾病和

before birth and similar approaches are available for cancer syndromes
出生前和类似的方法可用于癌综合征

already. Tormented lives and bereaved families can be avoided, hereditary
已经。痛苦的生命和失去亲人的家庭是可以避免的,遗传性

conditions can be prevented, and established diseases can be cured
条件是可以预防的,并建立了疾病可以治愈

through genetic engineering, including HIV,
通过基因工程,包括HIV,

Personal Genetic Testing is no longer recreational nor economically
个人基因测试不再是休闲经济也不

beyond reach while its results are highly actionable with huge emotional,
而其结果是无法达到的高度可操作的巨大的情感,

psychological, and financial benefits and impact to the individual and
心理,和财务效益和影响个人和

society alike. Genomics will need time to achieve its full potentfal and
社会一样。基因组学将需要时间来实现其全部potentfal和

promise. Regulation will be necessary and inevitable, but the future is
承诺。调节是必要的和不可避免的,但未来

visible in the horizon. We can no longer advise against it just because
在地平线上可见。我们可以不再反对这样做只是因为

of our own knowledge inadequacies. We own it, to the millions of lives
我们自己的知识不足。是我们自己的生命,数以百万计

wasted and lost worldwide because in the past we could not knowl
浪费和失去的世界因为过去我们不认识

Not knowing today is not a valid excuse anymore,
不知道今天是不是一个有效的借口

 

| 发布时间:2014.01.09    来源:    查看次数:
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