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Hunter syndrome

Hunter's syndrome is a mucopolysaccharide disease caused by an enzyme deficiency of iduronate-2-sulfatase (I2S). This is also called as mucopolysaccharoidosis Type II. It was first described by Scottish physician Charles A. Hunter (1873-1955) in 1917. more...

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Definition

Hunter syndrome is a hereditary disease in which the breakdown of a mucopolysaccharide (a chemical that is widely distributed in the body outside of cells) is defective. This chemical builds up and causes a characteristic facial appearance, abnormal function of multiple organs, and in severe cases, early death.

Causes, incidence, and risk factors

Hunter syndrome is inherited as an X-linked recessive disease. This means that women carry the disease and can pass it on to their sons, but are not themselves affected.

Because girls have two X chromosomes, their normal X can provide a functioning gene even if their other X is defective. But because boys have an X and a Y, there is no normal X gene to fix the problem if the X is defective.

The metabolic abnormality that causes Hunter syndrome is a lack of the enzyme iduronate-2-sulfatase. In its absence, mucopolysaccharides collect in various body tissues, causing damage.

Affected children may develop an early-onset type (severe form) shortly after age 2 that causes a large skull, coarse facial features, profound mental retardation, spasticity, aggressive behavior, joint stiffness and death before age 20. A late-onset type (mild form) causes later and less severe symptoms.

Symptoms

Juvenile form (early-onset, severe form):

  • mental deterioration
  • severe to profound mental retardation
  • aggressive behavior
  • hyperactivity
  • short stature


Late (mild form):

  • mild to no mental retardation

Both forms:

  • coarse facial features
  • large head (macrocephaly)
  • stiffening of joints
  • increased hair (hypertrichosis)
  • deafness (progressive)
  • enlargement of internal organs such as liver and spleen
  • cardiovascular problems, especially valvular dysfunction
  • abnormal retina (back of the eye)
  • carpal tunnel syndrome

Signs and tests

Signs of the disorder that the doctor might look for include:

  • hepatomegaly (enlargement of liver)
  • splenomegaly (enlargement of spleen)
  • inguinal hernia
  • spasticity
  • heart murmur and heart valve dysfunction
  • joint contractures
  • excretion of heparan sulfate and dermatan sulfate in urine
  • decreased iduronate sulfatase enzyme activity in serum or cells

Tests that may indicate this disorder is present include:

  • urine for heparan sulfate and dermatan sulfate
  • enzyme study, decreased iduronosulfate sulfatase (may be studied in serum, white blood cells and fibroblasts)
  • genetic testing may show mutation in the iduronate sulfatase gene

Read more at Wikipedia.org


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grasshopper syndrome, The
From Sports Afield, 8/1/03 by McIntyre, Thomas

Backcountry

Some hunters work their way through a list ff "expected" species. The rest of us bunt what we want to.

I will never kill a tiger, and I can live with that. I will never hunt a black rhino, either, even though there was a time and place I might have-in Kenya, a large portion of a lifetime ago. Actually, it is feasible that the black rhinoceros could once again become huntable game in some well-regulated areas of Africa, which would, in turn, permit American hunters to return with the trophy. I'm not planning on that hunt for myself, though, just as I no longer seriously contemplate some of the more arduous forms of mountain hunting, or a tented, forty-five-day safari. Time, opportunity, and fortune are coconspirators: Only one of these factors has to exercise its veto to scotch even our most foolproof hunting plans.

Today there are some kinds of hunting for which I will probably never receive a mandate. In an earlier stage of life that would have bothered me. Once I wanted to hunt everything, and I sometimes dreamed I might. Coming of hunting age in the 1960s, I based my expectations on the fact that the hunters of the time still regularly packed off to India's Madhya Pradesh or Brazil's Mato Grosso. There seemed to be an official list of exotic big game that a hunter had to bag in order to have truly hunted. (In fact, for many years, a renowned big-game hunting award assumed a candidate's hunting curriculum vitae would include animals that had, in some cases, been listed as endangered for decades, simply because they had always been hunted. This policy has, fortunately, been corrected.)

I saw many people approaching their hunting with the cheerless efficiency of ants stockpiling grain for the winter. They'd work their way diligently through all the subspecies of red deer or wild sheep in the world. That left one to wonder, from an amateur's envious perspective, how it was possible to be attuned to the subtle nuances between the Dagestan tur and Kuban tur-or what, exactly, a tur was, anyway. In time, I had to concede that I would, because of circumstance and temperament, always be a grasshopper when it came to my own hunting, jumping from species to species as interest and opportunity dictated.

The advantage of this orthopterous approach to hunting is that it has allowed me to cultivate catholic passions-I am able to get as excited about chasing squirrels with feist dogs in eastern Texas as I am about trailing giant eland in the northern Central African Republic-well, almost as excited. It also means that I am free of the remotest sense of obligation to hunt mountain nyala, Marco Polo sheep, or even another lion, merely because they fulfill part of the course requirements. Yet, as a student of whimsy, I am nonetheless tantalized by even the vaguest glimmer of hope that I might someday hunt polar bear, mountain caribou, or takin-a bullock-sized relative of the muskox that is found in the dense forests of China's heartland.

Those would be nice, but they are hardly mandatory. As I grow older, there seem to be fewer quarries I can't live without. It would be a significant loss not to hunt pronghorn, mule deer, or the occasional black bear. And living without hunting for Cape buffalo every few years would be like stealing a car without the high-speed freeway chase. I am confident, though, that opportunities remain for me to pursue all those animals well into my dotage. A bigger question for me is this: What game animals remain vital to me, but might, in reality, remain an impossible dream? There are only two.

The first, if you live anywhere in Europe or in a sweep of land across the middle of Asia, is no more rare than the whitetail in North America. In fact, in parts of its range it is as detested by farmers as whitetails are in Mississippi fields of ripe soybeans. This is the roe deer, which might weigh one hundred pounds in Siberia and would be doing well to break fifty in the British Isles. It seldom develops anything more than a relatively short three-point antler. I have hunted roebuck in the Czech Republic and Scotland, in habitat that was in sight of autobahns and flown over by NATO jets, and I can say that there is nothing exotic, or even very exceptional, about roe deer.

Yet the roe deer is that shy, mysterious, maybe a little-bit-plain girl whose face you recall twenty years after high school, long after all the cheerleaders and homecoming queens have been forgotten. (Antihunting psychologists are free to make what they will of that statement.) It is the roe deer's elusiveness that makes it alluring, and its ability not just to survive but to flourish in the most heavily civilized regions of the world. It is a heart of wildness beating in a postmodern landscape. If you were to tell me I could depart tomorrow for the Continent with the option of hunting wild boar, gold-medal stag, or roe deer, my choice, a strange one to some, would be easy.

The other animal I dream of hunting, without solid evidence that I may one day do so, lives in some of the wildest stretches of the planet, from Ethiopia down through Tanzania in East Africa. Everybody knows the kudu, but they know the greater, rather than the lesser. A third the size of the greater, it is the lesser that lives large in my imagination.

I once followed lesser kudu through the African bush, but passed up a shot at an immature bull. Later, I spotted a triple-spiraled behemoth along the side of a paved highway as we drove between hunting blocks. It didn't occur to me that I had grown passionate about lesser kudu until a decade later. That's when I saw the mounted head of one on the wall of the late Finn Aagard's house in the Texas hill country-one of the few trophies Finn brought with him when he left Africa. Looking up at it, I understood why he had brought it while leaving others behind, and that this was truly one of the world's most elegantly beautiful wild animals. Today, I would happily exchange a hunt for leopard and elephant for a genuine chance at a mature lesser kudu bull.

Of course, to implant a lasting desire for certain animals, you may actually have to hunt them, which is what happened to me with roe deer and lesser kudu. If that is the case, I may not even realize what species I really want to hunt. I'm never going to know where all my passions lie, because as a grasshopper, there are places and animals that I have to hop over. I can live with that, though, especially when the alternative is to reach a point where you have, like an industrious little ant, checked off everything on your list, and still have one question left: Is that all there is?

Happily, that's something I will never have to ask.

Copyright Sports Afield, Inc. Aug 2003
Provided by ProQuest Information and Learning Company. All rights Reserved

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