عامل ژنتیکی ابتلا به لکنت زبان کشف شد

عامل ژنتیکی لکنت زبان کشف شد.

محققان می گویند: سه ژن مرتبط با نوعی اختلال سوخت وسازی کمیاب می تواند عامل بروز برخی موارد لکنت زبان باشد. این کشف می تواند به ارايه درمانهای جدیدی برای بیماری های گفتاری منجر شود.

به گزارش خبرنگار سایت پزشکان بدون مرز به نقل از رویترز، دو مورد از این ژنها در سلول های مغزی بعنوان بخشی از فرایند بازیافت زباله مورد استفاده قرار می گیرد. ژن سوم نقش شناخته شده دیگری ندارد.

دوکتور جیمز باتی مدیر موسسه ملی ناشنوایی و اختلالات ارتباطی می گوید: این نخستین مطالعه و بررسی انجام شده ای است که نشان می دهد جهش های ژنی خاصی عامل بالقوه لکنت زبان است.

از حدود سه میلیون امریکایی مبتلا به لکنت زبان حدود پنج درصد پیش دبستانی و یک درصد بزرگسال هستند.

پژوهشگران با بررسی دی ان آ مبتلایان به لکنت زبان و افراد سالم دریافتند افرادی که لکنت زبان ندارند این جهش های ژنتیکی نیز در آنها مشاهده نمی شود.

پزشکان از سال ها پیش می دانستند ژنتیک نقش مهمی در ابتلا به لکنت زبان دارد.

سیمون فیشر از دانشگاه آکسفورد می گوید: سووالات بسیاری در مورد اینکه چگونه ژن دفع زباله به لکنت زبان منجر می شود، مطرح است.

دو مورد از این ژنها در اختلالاتی موسوم به mucolipidosis II و mucolipidosis III نقش دارد که در آنها زائدات در سلول ها تجمع می یابد و موجب بروز مشکلات قلبی، کبدی، مفصلی و گفتاری می شود.

به گفته پژوهشگران در صورتی که دو نسخه از یک ژن معیوب وجود داشته باشد فرد به این اختلالات دچار می شود. این در حالی است که تقریبا همه افراد مورد بررسی در این تحقیق فقط یک نسخه از این ژن جهش یافته را داشتند.

نتایج این تحقیقات در نشریه پزشکی نیوانگلند منتشر شده است.

__________________

آیا شما حاضرید همان صخره ای باشید که مسیر رودخانه را عوض می کند؟؟؟

http://www.daneshju.ir/forum/f487/t87095.html

Genetic risk factor for stuttering was discovered

.Genetic cause of stuttering was discovered

Investigators say the three genes linked to a rare metabolic disorder could be the cause of some .cases of stuttering. The discovery could lead to new treatment for the speech condition

Doctors Without Borders site report quoted by Reuters, two of these genes in brain cells may be used as part of the recycling process. Third, no other known genes involved.

Dr. James Baty Director of the National Institute on Deafness and Other Communication Disorders says: This is the first study to show that a specific gene mutations as the potential cause of stuttering.

About three million Americans suffering from stuttering preschool nearly five percent and one percent are adults.

Researchers studying the DNA of patients and healthy subjects found that people who stutter do not stutter These mutations are not observed.

.Doctors have known for years that genetics play a role in the development of stuttering

Simon Fisher of Oxford University says the question of how many genes waste is to stutter, is introduced.

Two of these genes are involved in disorders called mucolipidosis II and mucolipidosis III where the waste accumulates in cells and cause heart problems, liver, and it is spoken.

According to researchers, if there are two copies of a defective gene will develop one of these disorders. However, almost all of the subjects in this study had only one copy of the mutated .gene

.The research is published in the New England Journal of Medicine

__________________

?Are you ready to be the rock that will change the course of rivers

http://www.daneshju.ir/forum/f487/t87095.html

Bruce Willis

While the world knows Bruce Willis as an A-list actor, few know that he struggled with stuttering throughout his first 20 years.

 Walter Bruce Willis was born in 1955 in West Germany to his German mother, Marlene, and his American GI father, David Willis. The family settled in David’s hometown of Penns Grove, New Jersey in 1957, and the couple has three other children.

 

After Willis came onto the radar screen in 1985 with his role as David Addison in the hot TV show Moonlighting, the actor would occasionally discuss his past struggles with stuttering in both print and television interviews.

In the 1997 book, Bruce Willis: The Unauthorized Biography, by British author John Parker, Willis is quoted as saying, “I could hardly talk. It took me three minutes to complete a sentence. It was crushing for anyone who wanted to express themselves, who wanted to be heard and couldn’t. It was frightening. Yet, when I became another character, in a play, I lost the stutter. It was phenomenal.”

 Parker also writes that Willis had a definite formula to conquer his stuttering by implementing a series of confidence building exercises encouraged by a school speech therapist.

 According to a 2001 biography, Bruce Willis: Overcoming Adversity, by Sandy Asirvatham, Willis admitted that at times he was reluctant to discuss his childhood in probing interviews because it was too painful and a large part of the pain was due to his stuttering.

 In high school, Willis became the class cut-up, which eventually lead to getting involved in drama. Becoming the class joker was his way of trying to fit in. In fact, Anthony Rastelli, a high school teacher vividly remembers Willis’ struggles and first attempts to speak before an audience. Rastelli is quoted in Parker’s book as saying, “At an age when most boys were finding their feet, Willis had a hard time. The stammer was a problem and in the end he began to compensate for it by his antics.

 He had to establish himself among the pack, and, unable to do so with fluent speech, he did it another way – making himself stand out in the crowd by becoming the joker, the mini-tearaway. What he was doing was saying ‘Yes, I stutter – but doesn’t mean I’m not good as the rest of you, better even.’ I nearly died for him when he went on stage to make a speech. The kids were all laughing but somehow, he stuck it out and finished his piece, which was fairly typical of his spirit. And eventually, of course, he discovered that in front of an audience, he could overcome his disability.”

 Willis achieved the image that he strived for by first cutting-up in class and then becoming one of his high school’s drama stars. Willis later told an interviewer, “A big part of my sense of humor came out of my stuttering, in trying to overcome that and have some dignity. I said, Yes, I stutter, but I can make you laugh.”

 However, Willis left high school with no definite decision to become an actor. As a stuttering youth with poor grades and a family that could not fund a college education, Willis hung around town and saved his money. After a couple of years, Willis enrolled at Montclair State College in New Jersey which had a noted drama program. It was there that drama professor, Jerry Rockwood, was impressed by Willis and encouraged him to see a speech therapist - making the combination of acting and speech therapy the undergrad’s ticket to both fluency and future success.

Willis’ spectacular acting career exploded from Moonlighting to Hollywood’s A-list, and to box office smashes - The Sixth Sense, Armageddon, Bonfire of the Vanities and the Die Hard franchise of movies. Willis ranks as the 7th highest-grossing actor in terms of leading roles.

 Willis’ struggle with stuttering is inspirational. Unfortunately, it is rarely mentioned in interviews. However, by identifying himself as a person who stutters, Willis has an opportunity to put a human face on the daily struggle stuttering often presents.  

http://www.stutteringhelp.org/famous-people/bruce-willis

بروس ويليس

جهان، بروس ويليس را به عنوان يك بازيگر در ليست بازيگرهاي درجه يك مي شناسد. او كسي است كه 20 سال اول زندگي اش را لكنت داشته است. 

در دوره ليسه (دبيرستان) بود كه ويليس با رفتن به سوي درام و بازي كردن نقش، به بذله گوي كلاس تبديل شد. آنتوني راستلي كه يك معلم در اين ليسه بود در كتاب پاركر عنوان كرده است كه مبارزات ويليس براي صبحت در سن كه اكثرا پسر بودند در واقع جاي پاي خود را محكم كرد.

او در واقع دو راه بيشتر نداشت. يا در همان دايره بسته لكنت مي ماند و يا با ايستادگي در برابر لكنت و با تبديل شدن به يك بزله گو، بر آن غالب مي شد. او مي گويد: بله من يك لكنتي هستم اما اين به اين معني نيست كه از شماها پايين تر باشم. وقتي براي صحبت روي صحنه رفتم احساس كردم مرده ام زماني كه بچه ها به من خنديدند. اما به نحوي گير كردم و قطعه خود را با لكنت گفتم و آن را به پايان بردم و با خود گفتم اين مي تواند نسبتا يك چيز معمولي باشد. و در نهايت، كشف كردم كه در مقابل يك مخاطب مي توانم بر ناتواني خود غلبه نمايم.......