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Usher syndrome

Usher syndrome is a genetic disease causing deaf-blindness. It is essentially progressive retinitis pigmentosa combined with congenital hearing impairment. It is almost always inherited in an autosomal recessive pattern and is estimated to occur in 1 in 10,000 people. Whilst this is a rare genetic condition, it represents the major cause of syndromic deafness with blindness. The condition gets its name from British ophthalmologist, C.H. Usher, who in 1914 wrote a paper describing several cases in which the link between congenital deafness and retinitis pigmentosa was stressed. more...

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Usher syndrome is divided into three types, I, II and III. Children with type I syndrome are born profoundly deaf, and eyesight usually begins degrading after the first decade of life, beginning with night-blindness. If identified at a young age, children usually receive a cochlear implant, and generally learn spoken language. Sign language is also sometimes used, though when vision loss becomes severe one must revert to tactile signing. Problems with balance are usually present, due to the failure of the hair cells of the inner ear. Type II children are hard-of-hearing, and changes in sight usually begin later, first becoming noticeable after the second decade of life. In the type III syndrome, hearing loss as well as retinitis pigmentosa can occur later in life.

Usher syndrome I

Worldwide, the estimated prevalence of Usher syndrome type I is 3 to 6 per 100,000 people in the general population.

Mutations in the CDH23, MYO7A, PCDH15, Usher 1C (also known as Harmonin), and USH1G (now identified as SANS) genes cause Usher syndrome type I. Usher syndrome type I can be caused by mutations in one of several different genes. These genes function in the development and maintenance of inner ear structures such as hair cells (stereocilia), which transmit sound and motion signals to the brain. Alterations in these genes can cause an inability to maintain balance (vestibular dysfunction) and hearing loss. The genes also play a role in the development and stability of the retina by influencing the structure and function of both the rod photoreceptor cells and supporting cells called the retinal pigmented epithelium. Mutations that affect the normal function of these genes can result in retinitis pigmentosa and vision loss.

Usher syndrome II

Usher syndrome type II occurs at least as frequently as type I, because type II may be underdiagnosed or more difficult to detect, it could be up to three times as common as type I.

Mutations in the MASS1 (also called VLGR1) and USH2A genes cause Usher syndrome type II. Usher syndrome type II may be caused by mutations in any of three different genes, two of which have been identified to date. These genes are called USH2A and MASS1. Usherin, the protein made by the USH2A gene, is located in supportive tissue in the inner ear and retina. Usherin is critical for the proper development and maintenance of these structures, which may help explain its role in hearing and vision loss. The precise function of the protein made by the MASS1 gene is not yet known.

Usher syndrome III

The frequency of Usher syndrome type III is highest in the Finnish population, but it has been noted rarely in a few other ethnic groups.

Read more at Wikipedia.org


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Mad Dads' syndrome
From Evening Standard (London), 12/23/04 by CHRIS JONES

AS Maria Sharapova prepares to usher out a year that cat apulted the 17-year-old to global stardom, her colourful father is in danger of joining the tennis world's most bizarre and reviled collectives: the Mad Dads' Club.

Yuri Sharapova has been a regular presence on the tournament circuit ever since he was pictured hugging his daughter in a very public embrace after her stunning victory over Serena Williams in this year's Wimbledon final.

At the time it was seen as a delightfully spontaneous show of emotion by a father who helped mould her into the sport's most exciting champion in years.

But six months on, the verdict is not so charitable, particularly in Russia where other leading players and officials are openly critical of his antics and the effect they are having on Maria's career.

Sharapova senior has been accused of bad mouthing other Russian players and coaches and was twice warned about his behaviour by the umpire at the recent WTA Tour Championships. No doubt he will be closely monitored next month when his daughter attempts to win the year's first grand slam event - the Australian Open in Melbourne.

Not surprisingly the Sharapovas put much of the criticism down to jealousy.

By winning Wimbledon, Maria eclipsed the achievement of her compatriot Anastasia Myskina, who had collected the French Open title a month previously. Not even Svetlana Kuznetsova's US Open triumph could keep Sharapova out of the spotlight.

Although she ended the year ranked below Myskina, the most photographed 'tennis babe' is the big winner in terms of off-court contracts.

While American corporations have not taken kindly to the way Russians have dominated the sport, they have nevertheless embraced a teenager who spent much of her childhood at Nick Bollitieri's academy in Florida.

So while Sharapova's compatriots have gone largely penniless, the teenager currently boasts a $ 6.3million deal with Motorola and is also a model with the IMG agency.

But as the dollars have rolled in, so have the complaints from her compatriots who complain that she is aloof and unwilling to mix with them at tournaments.

Now the stakes have been raised with former Wimbledon doubles champion Larisa Neiland, the Russian Fed Cup coach, claiming it would be difficult for the 17-year-old to break into her team next year because of Yuri.

"Maria's main problem is her father and I just don't see how he would coexist with other girls' parents and team officials," said Neiland "Every time Maria was playing a Russian girl in the WTA Tour Championships in Los Angeles, her father's behaviour was simply outrageous, nasty and out of control. He basically tells everyone to get lost. I just don't see how he could work with the rest of us.

"You can't just go by rankings alone in selecting the team. You need great team spirit, togetherness in order to make a really strong squad."

Myskina, who lost to Sharapova in the semi-finals, also complained about Yuri's behaviour during their match. "He was just yelling and screaming instructions to her and I thought he just might jump right on the court at one point in the match," she was quoted as saying in the Russia media.

Neiland has ensured the debate about the issue will continue in 2005 by comparing the situation with Jennifer Capriati's troubles. "I remember a couple of years ago, Capriati and her father had similar problems with the US Fed Cup team," she said - a reference to the way Capriati was dropped from the US team in 2002 for ignoring team rules and practising with her father.

But whatever pressure comes to bear on the Sharapovas, it is unlikely to mirror the desperate situation that saw Jelena Dokic drop out of the top 100 last year as her controversial father Damir - surely the maddest of the lot - indulged in a bitter war over a boyfriend of whom he disapproved.

Dokic had burst on to the tennis scene in 1999 when her father had to be escorted from Wimbledon after a series of outbursts.

But as Jelena matured, tensions mounted in their relationship and the pair were estranged for much of the last two years. Matters eventually became so bad that Jelena asked for both her parents to be refused accreditation to watch her matches.

Last year Damir even suggested that his daughter should be drug tested.

Amazingly they now appear to have patched up their differences and the pair are back working together.

The women's game needs the kind of blond ambition Sharapova and Dokic bring to the sport and 2005 should be a defining period for both players. It should also fill WTA Tour officials with considerable dread.

DAMIR DOKIC, FATHER OF JELENA Damir took control of his daughter until she rebelled in 2002 and got her parents banned from tournaments. He was ejected at Birmingham and lay in the road. He smashed a journalist's mobile phone at Wimbledon and was thrown out of the US Open after rowing with staff. Claimed his daughter needed to be drug tested this year when her ranking fell.

JIM PIERCE, FATHER OF MARY Jim Pierce was banned from attending tournaments because of his unacceptable courtside behaviour: he once shouted from the stands, 'Mary, kill the bitch'. Pierce, a convicted armed robber who also spent time in a mental institution, is known to have beaten his daughter on days when her tennis was not up to scratch.

STEFANO CAPRIATI, FATHER OF JENNIFER Father and daughter have buried their differences and are working well together these days. Stefano saw the light after pushing Jennifer too hard for too long - causing a very public burnout.

When she lost a match her father would chastise her.

There were rumours of physical bullying; rackets would be hurled and furious words exchanged.

(c)2004. Associated Newspapers Ltd.. Provided by ProQuest Information and Learning Company. All rights Reserved.

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