The Symptoms of Gauche Disease

Pain, fatigue and bulkier bodies

CELL. Gaucher disease is a disease called "lysosomal storage". In the cell, contains the lysosome enzymes to degrade numerous organic molecules. Or an enzyme missing in patients with Gaucher: glucocerebrosidase. And this is not without consequences for these patients, since the most common conditions are pain, including bone crises, fatigue, the presence of enlarged spleen (splenomegaly) or an enlarged liver (hepatomegaly).

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Note that there are more than 50 lysosomal storage disease and Gaucher disease is the most common.

Comparison to a lysosome in a cell (macrophage) in a healthy and Gaucher said cell. © GaucherFrance

TRANSMISSION. Gaucher disease is a disease of genetic , autosomal recessive. This means that for a child is sick, both the father and mother must disclose the mutated allele. If only one of them passes him the mutated allele, then the child will not get sick.

Gaucher disease: what is it?

Gaucher disease: what is it?
Lise Loume By Lise Loume
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Posted on 26-07-2014 11:00
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This July 26 is the first World Day of Gaucher disease. The opportunity to present this rare and little-known genetic condition.
Gaucher disease is characterized by the presence of a large time (hepatomegaly).  © GaucherFrance Gaucher disease is characterized by the presence of a large time (hepatomegaly). © GaucherFrance

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You probably have never heard of, and for good reason: Gaucher disease is rare. It affects 1 in 60,000 in the world.

On the occasion of World Day of Gaucher disease, the combination Overcoming the Lysosomal Diseases (VML) wants to raise awareness of this disease in France: how do they affect people in France? How is it spread? Is there a treatment? Elements of answer.

young salmon located Chanteuge (Haute-Loire)

PLAN. attempt to save the species, the France has set up a preservation plan  including a business continuity via erasures ecological thresholds, creating fish passage and rarely by the destruction of dams. That of Poutès in the Haute-Loire and should be dismantled in 2018.

The association manages wild salmon in turn a unit of reproduction of young salmon located Chanteuge (Haute-Loire), which is considered the largest salmon stocking in Europe. The marathon is an opportunity to remember the importance of a fish once so abundant that brought substantial income to residents of the Loire and the Allier .

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DECLINE. At the same time, the fish catch increased from 12,500 tonnes to 1,300 tonnes. Retail worrying decline disproportionately affects older who spent several winters at sea salmon Yet it is these individuals that return to spawn in the rivers where they were born.. In France, the Atlantic salmon is still present in fifty rivers, mainly on the Rhine and across the South Atlantic coast of Brittany in small coastal rivers Adour in the Basque country.

organization for the conservation of salmon

Meeting in Saint-Malo on June 6, the organization for the conservation of salmon in the North Atlantic  had painted a very alarming report on the status of stocks of this species. Over the past 30 years, stocks fell 75% in the North Atlantic. Within this ocean, there were 10 million salmon in the early 70s, there are more than 3.6 million today.

DECLINE. At the same time, the fish catch increased from 12,500 tonnes to 1,300 tonnes. Retail worrying decline disproportionately affects older who spent several winters at sea salmon Yet it is these individuals that return to spawn in the rivers where they were born..

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In France, the Atlantic salmon is still present in fifty rivers, mainly on the Rhine and across the South Atlantic coast of Brittany in small coastal rivers Adour in the Basque country.

Loire and Allier rivers are iconic for the migration of these fish that can no longer feed after returning freshwater than 1000 miles of streams. On the Loire, there were approximately 100,000 spawning salmon per year in the 19th century. They are less than 1,000 today.

They walked to save salmon

They walked to save salmon
Loïc Chauveau By Loïc Chauveau
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Posted on 26-07-2014 17:00
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Party Langeac (Allier), the marathon salmon ends. Its purpose? Educate residents about the dangers of loss of the last wild salmon Loire.
On the Loire, there were approximately 100,000 spawning salmon per year in the 19th century.  They are less than 1,000 today.  © National Conservation of wild salmon On the Loire, there were approximately 100,000 spawning salmon per year in the 19th century. They are less than 1,000 today. © National Conservation of wild salmon

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Smolts. For 15 days, walkers, runners and kayakers down the Loire to the mouth, as do the smolts, young salmon hurtling toward the ocean to spend their adult lives (see map below) .

Backed by ecologists Conservatories natural areas and permanent Centers for Environmental Initiatives (EIPC), the wild salmon Association wanted and remember the risks an iconic species of the rivers of Europe and the North America. The water pollution and barriers (dams, thresholds) impeding their migration, the species are in jeopardy at extremely low levels.

The program tonight? Dancing with the stats

The program tonight? Dancing with the stats
Olivier Lascar By Olivier Lascar
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Posted on 26-07-2014 19:00
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Here Statistics explained by modern dance: four short films to see on the blog "Statistically yours."
Explain statistics through dance.  Possible?  Judge for yourself ... © British Psychological Society Explain statistics through dance. Possible? Judge for yourself ... © British Psychological Society

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FAME. Demystifying statistics. This is the objective of the British Psychological Society   has produced four short films illustrating various statistical concepts through modern dance. Films that deal with the relationship, frequency distributions, sampling and standard error, and finally the variance.

The result? It is to see on the blog "Statistically yours" led by Avner Bar-Hen mathematician from the University Paris Descartes

Treatment and certain medications can also cause hair loss

"Even just to pull your hair too tight at the time want menguncir hair can also cause hair loss," said Dr. Scwhartz. https://audioboo.fm/Kirvich The American Academy of Dermatology recommends to use a regular conditioner and limit the use of dryers and curling irons.

Treatment and certain medications can also cause hair loss. "We know that people who undergo chemotherapy and radiation-related cancer will experience hair loss, but not many people are talking about how antibiotics can cause hair loss," says Dr. Schwartz.

Other drugs that baldness is associated with blood thinners, https://dribbble.com/Kirgichstein beta-blockers, and blood pressure medication calcium channel blocker (calcium Channer-blockers), antidepressants, and non-steroidal anti-inflammatory for pain, including ibuprofen.

Stress can also cause hair loss. "Taking care of yourself will help your hair grow back," said Dr. Scwartz. Healthy diet, adequate sleep, and regular exercise is highly recommended.

Thyroid disorders also cause hair loss. http://hadanovich.deviantart.com/ "Most people who have thyroid problems hair lose," said Dr. Schwartz. Thinning hair, being rude, and rapid fatigue is a common sign of thyroid damage.