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Helping children swallow medicine

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Most parents know the battle of getting a child to swallow medicine when necessary. It’s strange how children can savour the most disgusting sweets but refuse medicine that tastes far more pleasant. It’s all part of the art of being two: recognising when your parents are really worried about something and then refusing to play the game.

But it’s important for children to get the doses of medicine they’ve been prescribed and that they finish any course of antibiotics they’re given, so you need to be patient and keep trying.

Some of the following might help:

*Make sure younger children get liquid rather than tablet forms of medicine where possible.

*Ask your doctor or pharmacist if the medicine can be prescribed in a flavour your child likes. This isn’t always possible, but there are lots of different makes of antibiotics, so it’s worth a try.

*Try mixing the medicine with something very sweet, such as honey or fruit syrup. This is particularly useful if the medicine is in tablet form. These can often be crushed into the syrup (but check with your pharmacist first, as some come in a gel form that doesn’t dissolve easily) or mixed with other more solid foods.

*Use a syringe (from the pharmacy) to give medicine, especially to younger children. This is much easier to hold than a spoon and far less likely to spill, especially when you’re holding the child tight and they’re trying to push you and the medicine away. When you put the syringe in your child’s mouth, point it towards their cheek as you press the plunger to avoid squirting it straight down their throat and choking them.

*Toddlers may be more willing when they’re given medicine in an animal-shaped medicine tube and allowed to sip it at their own pace.

*Try reverse psychology – tell your child it’s special medicine and she’s not allowed to have it. It’s amazing how often this one works.

*Bribery and corruption involving large amounts of sweets is often a good bet, too (but don’t tell your dentist).

*Stay calm and never force your child to take medicine. If they persistently refuse, try again after about half an hour.

*Say you’ll take them back to the doctor to be given the medicine (this showdown is too much for most toddlers, who’ll back down at this point).

Many children find it hard to swallow pills and capsules. Most have never had to, since almost all medications for children are available in liquid form. However, pills have their advantages: parents know the child gets the entire dose, pills hide the flavor of medicines that taste bad, pills are easier to take when traveling, and pills do not have to be refrigerated like many liquids.

What is the best way to teach a child to take a pill? There are many techniques parents can try, but everyone agrees that it is a good idea for parents to teach their kids the technique of pill swallowing before they really need it. A sick or cranky child is not a cooperative student!

Here are some suggestions that might help:

*Keep a calm and positive attitude

*Be patient. Some normal children can’t accomplish pill-swallowing until their late teens!

*Show the child how to swallow pills calmly and quickly. Demonstrate by placing a tablet or capsule back in the center of their tongue. Have them quickly drink water, Kool-Aid, or their favorite drink through a straw. When the child concentrates on using the straw and swallowing the liquid, the pill usually follows quickly along.

*Train in small steps with success at every stage. For example, have your child practice with a piece of small cake decoration. When the smallest size is swallowed without a problem, a slightly larger size may be tried. Then work up to the size of an M & M. Use substances that will melt if they get stuck or coat them first with butter. It is best to work in short sessions (5-10 minutes) several times a day over a couple of days.

*Eliminate distractions during medicine taking time. Close the door, turn the TV off, etc. allowing the child can concentrate on the job at hand
If the child gags or vomits, be calm and clean up the mess in a matter-of-fact way. Let the child settle down and try again in 10 or 15 minutes.

*Some kids like to play “Beat the Clock.” Use a one or two minute time limit!

*Give plenty of praise, such as “Oh good! You swallowed it right down.” Avoid negative comments like “Only babies take liquid medicine.” These comments rarely motivate children to try harder.

*Some pills are easier to swallow if they are broken into halves. Check with the pharmacist first, however, to make sure a divided pill does not lose its potency.

*Have the child drink a little water before taking the pill. Tables and capsules are harder to swallow when the youngster’s mouth is dry (which often happens when they are sick).

*As long as the pill does not have to be taken on “an empty stomach,” have your child place a little piece of food on their tongue, next to the pill. Next have them drink some water to swallow the food and the pill usually goes down at the same time. Don’t have your child tilt their head back too far when swallowing as this can sometimes make it more difficult for the pill to go down.

*Another way to get a child to swallow a pill is to stick it in a cube of Jell-O TM. The pill will usually slide down easily with Jell-O.
One pharmacist recommended the “Tic Tac” strategy: Put a “Tic Tac” on the tip of the child’s tongue. Place a glass of water filled to the brim on the table. Have the child suck in water from the brim without picking up the class. About one half mouthful will do. Remove the lips from the glass and quickly tip head back. The “tic tac pill” will be washed to the throat and swallowed with the gulp of water without the tongue being involved. The pharmacist claims this method works with kids as young as three years old.

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose

Resources:
http://www.kidsgrowth.com/resources/articledetail.cfm?id=428
http://www.bbc.co.uk/health/physical_health/conditions/medicinechildrenswallow.shtml
http://www.ehow.com/how_6607984_child-swallow-pill.html

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News on Health & Science

7 Tips for Cleaning Fruits, Vegetables

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Nearly 48 million people are sickened by contaminated food each year in the United States. Many people don’t realize that even produce can sometimes be the culprit in outbreaks of food-borne illness.

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The U.S. Food and Drug Administration (FDA) offers the following tips for protecting yourself:

1.Wash your hands for 20 seconds with warm water and soap before and after preparing fresh produce
2.Cut away any damaged or bruised areas
3.Gently rub produce while holding it under plain running water
4.Wash produce before you peel it
5.Use a clean vegetable brush to scrub firm produce
6.Dry produce with a clean cloth or paper towel
7.Throw away the outermost leaves of a head of lettuce or cabbage

Resources:
FDA May 23, 2011

Time May 30, 2011

Posted By Dr. Mercola | June 07 2011

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Ailmemts & Remedies

Kidney dialysis

Introduction:
In order for blood to perform its essential functions of bringing nutrients and oxygen to the cells of the body, and carrying waste materials away from those cells, the chemical composition of the blood must be carefully controlled. Blood contains particles of many different sizes and types, including cells, proteins, dissolved ions, and organic waste products. Some of these particles, such as proteins like hemoglobin, are essential for the body. Others, such as urea (a waste product from protein metabolism), must be removed from the blood or they will accumulate and interfere with normal metabolic processes. Still other particles, including many of the simple ions dissolved in the blood, are required by the body in certain concentrations that must be tightly regulated, especially when the intake of these chemicals varies. The body has many different means of controlling the chemical composition of the blood. For instance, you learned in the “Iron Use and Storage in the Body: Ferritin and Molecular Representations” tutorial that the ferritin protein can help to control the amount of free iron in the blood. As you will discover in the tutorial entitled, “Blood, Sweat, and Buffers: pH Regulation During Exercise”, buffers dissolved in the blood can help regulate the blood’s pH. But the largest responsibility for maintaining the chemistry of the blood falls to the kidneys, a pair of organs located just behind the lining of the abdominal cavity. It is the job of the kidneys to remove the harmful particles from the blood and to regulate the blood’s ionic concentrations, while keeping the essential particles in the blood

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Healthy kidneys clean the blood by removing excess fluid, salt and wastes. When they fail, harmful wastes build up, blood pressure may rise, and the body may retain excess fluid. When this happens, treatment – dialysis or a kidney transplant – is needed to replace the work of the failed kidneys, which is known as end-stage renal failure (ESRF).

There are three primary and two secondary types of dialysis: hemodialysis (primary), peritoneal dialysis (primary), hemofiltration (primary), hemodiafiltration (secondary), and intestinal dialysis (secondary).

Hemodialysis:
Haemodialysis (HD) is the most common method used to treat ESRF and has been available since the 1960s. Despite some advances in dialysis machines in recent years, HD is still a complicated and inconvenient therapy requiring a coordinated effort from a large healthcare team, including:

•GP
•Nephrologist (kidney doctor)
•Dialysis nurse
•Dialysis technician
•Dietitian
•Social worker
One important step before starting HD is a small operation to prepare a site on the body. One of the arteries in your arm is re-routed to join a vein, forming a fistula. Blood is removed from the fistula, cleaned and returned to it, allowing dialysis process to take place.

Needles are inserted into a fistula (the point of access to the bloodstream) at the start of HD. You may find this one of the hardest parts, although most people report getting used to them after a few sessions. If it’s painful, an anesthetic cream or spray can be applied to the skin.

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In HD, blood is allowed to flow, a small amount at a time, through a special filter (the ‘dialyser’ or ‘artificial kidney’) that removes wastes and extra fluids. The clean blood is then returned to your body via the fistula. This helps to keep the correct amount of water in the body, control blood pressure – and keep the proper balance of chemicals such as potassium, sodium and acid.

Most people have HD three times a week for three to five hours, with a morning, afternoon or evening ‘slot’; depending on availability and capacity at a dialysis unit, usually in a large hospital. Some receive it at a smaller satellite unit nearer home, and a few have HD in their own homes.

By learning about the treatment, and working with your healthcare team, it’s possible to have a full, active life

Peritoneal dialysis:
Peritoneal dialysis (PD) became an alternative to HD in the 1980s, with many preferring the independence it brings them.

It means you don’t have to have dialysis sessions at a unit, but can give treatments at home, at work or on holiday. Like HD, by learning about the treatment, and working with the medical team, it’s possible to have a full and active life.

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In PD, a soft tube called a catheter is used to fill the abdomen with a cleansing liquid called dialysis solution. The abdominal cavity is lined with a layer called the peritoneum. Waste products and extra fluid (and salt) then pass through the peritoneum from the blood into the dialysis solution. They then leave the body when the dialysis solution is drained. This used solution is then thrown away.

The process of draining and filling is called an ‘exchange’ and takes about 30 to 40 minutes. The period the dialysis solution is in the abdomen is called the ‘dwell time’. A typical schedule is four exchanges a day, each with a dwell time of four to eight hours.

There are many forms of PD. One doesn’t even require a machine and it’s possible to walk around with the dialysis solution in your abdomen. Talk to your specialist about what’s best for your particular situation.

Whatever form is chosen, an operation is needed to have the soft catheter placed in the abdomen, which will carry the dialysis solution in and out of the abdomen. It’s usually inserted two weeks before dialysis proceeds, to allow scar tissue to build up that will hold it in place.

Hemofiltration:
Hemofiltration is a similar treatment to hemodialysis, but it makes use of a different principle. The blood is pumped through a dialyzer or “hemofilter” as in dialysis, but no dialysate is used. A pressure gradient is applied; as a result, water moves across the very permeable membrane rapidly, “dragging” along with it many dissolved substances, importantly ones with large molecular weights, which are cleared less well by hemodialysis. Salts and water lost from the blood during this process are replaced with a “substitution fluid” that is infused into the extracorporeal circuit during the treatment. Hemodiafiltration is a term used to describe several methods of combining hemodialysis and hemofiltration in one process.

Hemodiafiltration:
Hemodialfiltration is a combination of hemodialysis and hemofiltration. In theory, this technique offers the advantages of both hemodialysis and hemofiltration.

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Intestinal dialysis:
In intestinal dialysis, the diet is supplemented with soluble fibres such as acacia fibre, which is digested by bacteria in the colon. This bacterial growth increases the amount of nitrogen that is eliminated in fecal waste.  An alternative approach utilizes the ingestion of 1 to 1.5 liters of non-absorbable solutions of polyethylene glycol or mannitol every fourth hour.

Which is better?
Neither technique ‘cures’ ESRF, as they only provide about five per cent of normal kidney function. In other words, they control kidney failure to an extent. It’s hard to state which technique is ‘better’ for which patient, as both have pros and cons. Many patients will have both in their continuing treatment.

Living with dialysis
Adjusting to the effects of ESRF and the time spent on dialysis can be difficult. Aside from the ‘lost time’ (dialysis can take six to eight hours a day) most patients feel they have less energy. Many need to make changes in their work or home life, and can feel depressed when starting the process, or after several months of treatment. It’s good to talk with a social worker, nurse or doctor as this is a common problem that can often be treated effectively.

If you’re feeling well, your kidney specialist should measure the effectiveness of the dialysis with blood tests at least once a month in HD, and once every three months in PD.

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose
Resources:
http://www.bbc.co.uk/health/physical_health/conditions/in_depth/kidneys/kidneys_dialysis.shtml
http://en.wikipedia.org/wiki/Dialysis
http://www.chemistry.wustl.edu/~edudev/LabTutorials/Dialysis/Kidneys.html

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Ailmemts & Remedies

Haemochromatosis

Definition:
Haemochromatosis is a disease caused by excess iron in the body.

Iron is needed in the diet to maintain good health, particularly for making red blood cells that carry oxygen around the body. These red blood cells contain large amounts of iron.

Lack of iron can cause anaemia, but excessive iron is toxic. The body has few ways of disposing of unwanted iron, so it builds up in tissues causing damage and disease.

Haemochromatosis – or genetic haemochromatosis (GH) – is a disorder that causes the body to absorb an excessive amount of iron from the diet.

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We can only use a limited amount of iron and any excess is deposited around the body. This accumulates mainly in the liver, but can also affect the heart, pancreas and pituitary gland, damaging these vital body organs and resulting in a deterioration of their functional capacity.

Haemochromatosis is more common in Caucasian or white populations, with about 1 in 300 to 1 in 400 affected. About half that number are affected in black populations.

Men are more likely to have hereditary haemochromatosis and suffer from it at an earlier age, as women regularly lose iron in menstruation or use stores in pregnancy.

Symptoms:
Although haemochromatosis and the potential for the condition to cause problems is present from birth, symptoms don’t usually become apparent until middle age.

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Common symptoms that might be noticed then include:

•weakness, tiredness and lack of energy
•joint pain and stiffness – particularly in the hands and fingers
•a tanned or bronzed appearance of the skin
•impotence in men
•shrinking of testicles
•weight loss
•abdominal pain
.
Later, more serious symptoms may develop including:

•diabetes
•arthritis
•heart problems
•enlargement or damage to the liver

Clinical presentation:
Organs commonly affected by haemochromatosis are the liver, heart, and endocrine glands.

Haemochromatosis may present with the following clinical syndromes:

*Cirrhosis of the liver
*Diabetes due to pancreatic islet cell failure
*Cardiomyopathy
*Arthritis (iron deposition in joints)
*Testicular failure
*Tanning of the skin

Causes:
The causes can be distinguished between primary cases (hereditary or genetically determined) and less frequent secondary cases (acquired during life). People of Celtic (Irish, Scottish, Welsh) origin have a particularly high incidence of whom about 10% are carriers of the gene and 1% sufferers from the condition.

Primary haemochromatosis:
The fact that most cases of haemochromatosis were inherited was well known for most of the 20th century, though they were incorrectly assumed to depend on a single gene. The overwhelming majority actually depend on mutations of the HFE gene discovered in 1996, but since then others have been discovered and sometimes are grouped together as “non-classical hereditary haemochromatosis”, “non-HFE related hereditary haemochromatosis”, or “non-HFE haemochromatosis

It is thought to be mainly caused by a mutation of a gene called HFE, which probably allows excess iron to be absorbed from the diet. This mutation is known as C282Y and to develop haemochromatosis you usually need two genes (one from each parent) to be C282Y.

However, not everyone with the mutation may develop the disease, and it may occur if only one C282Y gene is present.

Confusingly, another mutation labelled H63D elsewhere on the HFE gene may occur alone or with C282Y and also influence iron levels.

Other rare mutations may give rise to haemochromatosis, especially in children.

Secondary haemochromatosis:
*Severe chronic haemolysis of any cause, including intravascular haemolysis and ineffective erythropoiesis (haemolysis within the bone marrow).
*Multiple frequent blood transfusions (either whole blood or just red blood cells), which are usually needed either by individuals with hereditary anaemias (such as beta-thalassaemia major, sickle cell anaemia, and Diamond–Blackfan anaemia) or by older patients with severe acquired anaemias such as in myelodysplastic syndromes.
*Excess parenteral iron supplements, such as can acutely happen in iron poisoning
*Excess dietary iron
*Some disorders do not normally cause haemochromatosis on their own, but may do so in the presence of other predisposing factors. These include cirrhosis (especially related to alcohol abuse), steatohepatitis of any cause, porphyria cutanea tarda, prolonged haemodialysis, post-portacaval shunting.

Risk Factors:
The onset of hereditary haemochromatosis usually occurs between the ages of 30 and 60 as the build up of iron takes years.

However, a rapid form of the disease does affect children. If left untreated excess iron builds up in the organs especially the liver, heart and pancreas. This may cause heart or liver failure, which can be fatal.

Diagnosis:
There are several methods available for diagnosing and monitoring iron loading including:

*Serum ferritin
*Liver biopsy
*HFE
*MRI

Serum ferritin is a low-cost, readily available, and minimally invasive method for assessing body iron stores. However, the major problem with using it as an indicator of iron overload is that it can be elevated in a range of other medical conditions unrelated to iron levels including infection, inflammation, fever, liver disease, renal disease, and cancer. Also, total iron binding capacity may be low, but can also be normal.

The standard of practice in diagnosis of hemochromatosis was recently reviewed by Pietrangelo. Positive HFE analysis confirms the clinical diagnosis of hemochromatosis in asymptomatic individuals with blood tests showing increased iron stores, or for predictive testing of individuals with a family history of hemochromatosis. The alleles evaluated by HFE gene analysis are evident in ~80% of patients with hemochromatosis; a negative report for HFE gene does not rule out hemochromatosis. In a patient with negative HFE gene testing, elevated iron status for no other obvious reason, and family history of liver disease, additional evaluation of liver iron concentration is indicated. In this case, diagnosis of hemochromatosis is based on biochemical analysis and histologic examination of a liver biopsy. Assessment of the hepatic iron index (HII) is considered the “gold standard” for diagnosis of hemochromatosis.

MRI is emerging as an alternative to liver biopsy for measuring liver iron loading. For measuring liver iron concentrations, R2-MRI (also known as FerriScan)  has been validated and is coming into use in medical centers. It is not recommended in practice guidelines at this time

Prognosis:
A third of those untreated develop hepatocellular carcinoma.

Treatment:
Routine treatment in an otherwise-healthy person consists of regularly scheduled phlebotomies (bloodletting). When first diagnosed, the phlebotomies may be fairly frequent, perhaps as often as once a week, until iron levels can be brought to within normal range. Once iron and other markers are within the normal range, phlebotomies may be scheduled every other month or every three months depending upon the patient’s rate of iron loading.

For those unable to tolerate routine blood draws, there is a chelating agent available for use. The drug Deferoxamine binds with iron in the bloodstream and enhances its elimination via urine and faeces. Typical treatment for chronic iron overload requires subcutaneous injection over a period of 8–12 hours daily. Two newer iron chelating drugs that are licensed for use in patients receiving regular blood transfusions to treat thalassemia (and, thus, who develop iron overload as a result) are deferasirox and deferiprone.

Haemochromatosis is treated by:

•Reducing the amount of iron absorbed by the body – patients are advised to avoid iron-rich foods and alcohol.
•Removing excess iron from the body by removing blood from the body (venesection therapy or phlebotomy). Initially this may involve removing a unit of blood a week (sometimes for many months) until iron levels in the blood are normal. Then most people can be kept stable by removing a unit of blood every 2-3 months.

If phlebotomy is started before liver damage occurs the outlook is good, and the affected person can expect to live an otherwise normal life.

Acquired haemochromatosis is normally treated by a drug that binds iron and allows it to be excreted from the body.

Associated problems such as heart failure and diabetes are treated as appropriate.

Good advice:-
*Limit the amount of iron in your diet.
*Eating red or organ meats (such as liver) is not recommended.
*Iron supplements should also be avoided, including iron combined with other multivitamins.
*Vitamin C increases iron absorption from the gut and intake should also be limited.
*Avoid excess alcohol as this may make liver disease worse

Future prospects:
Your prospects largely depend on the stage at which the disease was diagnosed. Symptoms of tiredness and general weakness often improve, but joint problems may not.

Abdominal pain and liver enlargement can also lessen or disappear, and heart function may also improve with treatment.

However, liver cirrhosis is irreversible and a liver transplant may be required.

Patients with liver disease are also usually monitored for liver cancer, which can be a long-term complication.

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose.

Resources:
http://www.bbc.co.uk/health/physical_health/conditions/haemochromatosis1.shtml
http://en.wikipedia.org/wiki/Iron_overload
http://www.netdoctor.co.uk/diseases/facts/haemochromatosis.htm

https://runkle-science.wikispaces.com/Haemochromatosis

http://www.ironxs.com.au/the-symptoms-of-haemochromatosis.html

http://www.goldbamboo.com/topic-t1404-a1-6Haemochromatosis.html

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Ailmemts & Remedies

Gaucher’s disease

Alternative Names:  Glucocerebrosidase deficiency; Glucosylceramidase deficiency

Definition:
Gaucher’s disease is a very rare genetic disease in which a fatty substance (lipid) accumulates in cells and certain organs. Gaucher’s disease is the most common of the lysosomal storage diseases:536 It is caused by a hereditary deficiency of the enzyme glucocerebrosidase . The enzyme acts on a fatty substance glucocerebroside (also known as glucosylceramide). When the enzyme is defective, glucocerebroside accumulates, particularly in white blood cells (mononuclear leukocytes). Glucocerebroside can collect in the spleen, liver, kidneys, lungs, brain and bone marrow…….CLICK & SEE THE PICTURES

Symptoms may include enlarged spleen and liver, liver malfunction, skeletal disorders and bone lesions that may be painful, severe neurologic complications, swelling of lymph nodes and (occasionally) adjacent joints, distended abdomen, a brownish tint to the skin, anemia, low blood platelets and yellow fatty deposits on the white of the eye (sclera). Persons affected most seriously may also be more susceptible to infection. Some forms of Gaucher’s disease may be treated with enzyme replacement therapy.
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The disease is caused by a recessive mutation in a gene located on chromosome 1 and affects both males and females. About 1 in 100 people in the United States are carriers of the most common type of Gaucher disease, while the carrier rate among Ashkenazi Jews is 8.9% while the birth incidence is 1 in 450.

The disease is named after the French doctor Philippe Gaucher, who originally described it in 1882 and lent his name to the condition.The biochemical basis for the disease would be elucidated in 1965.

Gaucher’s disease can occur at any age. It’s most common in Eastern and Central European (Ashkenazi) Jewish people.The National Gaucher Foundation states that around 1 in 100 people in the general U.S. population is a carrier for type 1 Gaucher’s disease, giving a prevalence of 1 in 40,000: among Ashkenazi Jews the rate of carriers is considerably higher, at roughly 1 in 15.

Type 2 Gaucher’s disease shows no particular preference for any ethnic group. Type 3 Gaucher’s disease is especially common in the population of the Northern Swedish region of Norrbotten where the incidence of the disease is 1 in 50,000.

Symptoms:
Signs and symptoms of Gaucher’s disease can vary widely from one person to another, particularly among different types of the disease.

The major types of Gaucher’s disease and associated symptoms are:

Type 1. This form of the disease is the most common and is generally the most mild. Type 1 accounts for about 90 percent of cases. In this form of the disease, there’s usually no damage to the brain. This type can occur at any age, although it’s most prevalent in adults, with an average age of 30 at the time of diagnosis. Possible signs and symptoms of type 1 Gaucher’s disease include:
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*Skeletal abnormalities, including thinning of your bones (osteopenia), bone pain and bone fractures
*Enlarged liver (hepatomegaly) or spleen (splenomegaly), or both
*A decrease in healthy red blood cells (anemia)
*Excessive fatigue
*A greater susceptibility to bruising, which may mean you have a low number of blood platelets (thrombocytopenia)
*Yellow spots in your eyes (pingueculae)
*Delayed puberty
*Nosebleeds

Type 2. This form of Gaucher’s disease is rare and much more severe than the other types. It begins during the first year of life, often developing by 3 months. These babies have brain damage that is extensive and progresses rapidly. In addition to the signs and symptoms listed above, other possible problems that may occur with this type of Gaucher’s include:
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*Cognitive deterioration, including mental retardation or dementia
*Rigidity
*Seizures

Type 3. This form of Gaucher’s disease, also rare, usually begins in childhood or adolescence. It tends to be chronic and progresses more slowly than does type 2.
Although the brain is affected, brain involvement tends to be milder than in type 2. Signs and symptoms, such as enlargement of the liver and spleen, tend to vary more in intensity than in type 2. Signs and symptoms that may occur more in type 3 than in type 1 include:

*Cognitive deterioration, including mental retardation or dementia
*Abnormal eye movements
*Loss of muscle coordination

Causes:
The disease is caused by a defect in the housekeeping gene lysosomal gluco-cerebrosidase (also known as beta-glucosidase, EC 3.2.1.45, PDB 1OGS) on the first chromosome (1q21). The enzyme is a 55.6 KD, 497 amino acids long protein that catalyses the breakdown of glucocerebroside, a cell membrane constituent of red and white blood cells. The macrophages that clear these cells are unable to eliminate the waste product, which accumulates in fibrils, and turn into Gaucher cells, which appear on light microscopy to resemble crumpled-up paper.

In the brain (type II and III), glucocerebroside accumulates due to the turnover of complex lipids during brain development and the formation of the myelin sheath of nerves.

Different mutations in the beta-glucosidase determine the remaining activity of the enzyme, and, to a large extent, the phenotype.

Risk Factors:
The risk of having type 1 or 3 Gaucher’s disease or being a carrier is higher if you’re of Eastern or Central European (Ashkenazi) Jewish ancestry. Type 2 is more common in people of Swedish descent.

A family history of any type of Gaucher’s disease increases the risk of being either a carrier of Gaucher’s or of developing the disease.

Heterozygotes for particular acid beta-glucosidase mutations carry about a fivefold risk of developing Parkinson’s disease, making this the most common known genetic risk-factor for Parkinson’s. A study of 1525 Gaucher patients in the United States suggested that while cancer risk is not elevated, particular malignancies (non-Hodgkin lymphoma, melanoma and pancreatic cancer) occurred at a 2-3 times higher rate

Complecations:
Complications of all types
Possible complications of all types of Gaucher’s disease include:

*Bone pain, which can become severe and incapacitating and may be associated with fractures.

*A tendency to bleed, which may result in repeated hemorrhaging in the nostrils or nasal cavities, or bruising beneath the skin (ecchymosis).

*An increased risk of certain cancers. Older people with Gaucher’s disease may have an increased likelihood of developing certain types of cancer, particularly multiple myeloma — uncontrolled multiplication of plasma cells.

Complications of type 2
Complications that are more likely to occur in people with type 2 Gaucher’s disease often include serious neurological complications, such as:

*Seizures
*Abnormal gait
*Swallowing problems

As these problems progress and become more severe, they can become debilitating and lead to death.

Complications of type 3
People with type 3 Gaucher’s disease are more likely to develop calcification of heart valves, which damages the valves and makes it increasingly difficult for them to open fully and function properly.

Diagnosis:
A definitive diagnosis is made with genetic testing. As there are numerous different mutations, sequencing of the beta-glucosidase gene is sometimes necessary to confirm the diagnosis. Prenatal diagnosis is available, and is useful when there is a known genetic risk factor.

A diagnosis can also be implied by biochemical abnormalities such as high alkaline phosphatase, angiotensin-converting enzyme (ACE) and immunoglobulin levels, or by cell analysis showing “crinkled paper” cytoplasm and glycolipid-laden macrophages.

Some lysosomal enzymes are elevated, including tartrate-resistant acid phosphatase, hexosaminidase, and a human chitinase, chitotriosidase. This latter enzyme has proved to be very useful for monitoring Gaucher’s disease activity in response to treatment, and may reflect the severity of the disease

Treatment:
For type 1 and most type 3 patients, enzyme replacement treatment with intravenous recombinant glucocerebrosidase (imiglucerase) can dramatically decrease liver and spleen size, reduce skeletal abnormalities, and reverse other manifestations. This treatment costs approximately $200,000 annually for a single patient and should be continued for life. The rarity of the disease means that dose-finding studies have been difficult to conduct, so there remains controversy over the optimal dose and dosing frequency. Due to the low incidence, this has become an orphan drug in many countries, meaning that a government recognizes and accommodates the financial constraints that limit research into drugs that address a small population.Velaglucerase alfa was approved by the Food and Drug Administration (FDA) as an alternative treatment on February 26, 2010.

Successful bone marrow transplantation cures the non-neurological manifestations of the disease, because it introduces a monocyte population with active beta-glucosidase. However, this procedure carries significant risk and is rarely performed in Gaucher patients. Surgery to remove the spleen (splenectomy) may be required on rare occasions if the patient is anemic or when the enlarged organ affects the patient’s comfort. Blood transfusion may benefit some anemic patients. Other patients may require joint replacement surgery to improve mobility and quality of life. Other treatment options include antibiotics for infections, antiepileptics for seizures, bisphosphonates for bone lesions, and liver transplants. Substrate reduction therapy may prove to be effective in stopping Type 2, as it can cross through the blood barrier into the brain. There is currently no effective treatment for the severe brain damage that may occur in patients with types 2 and 3 Gaucher disease. Gene therapy may be a future step.

The first effective treatment for the disease, the drug Ceredase, was approved by the FDA in April 1991. An improved drug, Cerezyme, was approved by the FDA in May 1994 and has replaced the use of Ceredase.

Gaucher’s disease has recently become a target for more than one effort at pharmacological chaperoning, which involves the use of orally administered drugs that operate at a molecular level. Miglustat is one of these oral drugs. It was approved for the treatment of this disease in 2003. As of June 2009[update], another oral drug, isofagomine tartrate, is under development.

prognosis:
How well a person does depends on the subtype of the disease. The infantile form of Gaucher disease may lead to early death. Most affected children die before age 5.

Adults with the type 1 form of the disease can expect normal life expectancy with enzyme replacement therapy.

Prevention:
Genetic counseling is recommended for prospective parents with a family history of Gaucher disease. Testing can determine if parents carry the gene that could pass on the Gaucher disease. A prenatal test can also tell if the fetus has Gaucher syndrome.

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose.

Resources:
http://www.bbc.co.uk/health/physical_health/conditions/gauchers1.shtml
http://en.wikipedia.org/wiki/Gaucher’s_disease
http://www.mayoclinic.com/health/gauchers-disease/DS00972
http://geneticpeople.com/?p=276
http://acherishedangel.com/
http://checkorphan.getreelhealth.com/grid/iwishes/gauchers-disease-type-2-or-type-3
http://www.nationwidechildrens.org/gaucher-disease

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