FAQ - Amyloid Neuropathies, Familial
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Is macular amyloid completely curable by glycolic acid peels?


No. Did someone tell you so? A glycolic acid peel is fairly superficial; amyloid is deposited much deeper in the dermis than a glycolic acid peel can reach.  (+ info)

How Could A Genetic Disease Be Present In A Baby With No Familial History?


For example, how could a baby inherited Milroy disease, if the parents, grandparents and great-grandparents did not have it?

Can people carry genes for a disease, which lies dormant in them?
How do certain diseases "skip a generation" Why do they?
Are all disease carrying genes the same?
How long does a gene pool live?
(poorly phrased, I know.)
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The 1st source below says that Milroy disease is autosomal dominant with variable expressivity. So that means that there are two possibilities. One is that there was a new mutation that only affected the baby (a mutation in the sperm, the egg, or early in the embryo's development). The other is that other blood relatives did have the genetic defect, but for some unknown reason they only had a very mild version of the disease (that is what "variable expressivity" means -- see 2nd source for more on genetics, including your other questions). Of course, there can be errors in people's family histories, too. ;)

Genetic studies may be able to clarify what the situation is in this particular family. Hope this helps.  (+ info)

Strategies to help someone with familial hypercholesterolemia?


besides just lowering the cholesterol intake in one's diet.
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I would never take statins. EVER. But maybe nicotinic acid . A form of Vitimin B 3 . And EXERCISE> Nordic walkin' is great.

Description
Nordic walking can be done year round in any climate and anywhere a person of any age or ability might otherwise walk without poles. It combines simplicity and accessibility of walking with simultaneous core and upper body conditioning similar to Nordic skiing. The result is a full-body walking workout that can burn significantly more calories without a change in perceived exertion or having to walk faster, due to the incorporation of many large core, and other upper-body muscles which comprise more than 90% of the body's total muscle mass and do work against resistance with each stride. 'Normal walking' utilizes less than 70% of muscle mass with full impact on the joints of the legs and feet.

Nordic Ski Walking produces up to a 46% increase in energy consumption compared to walking without poles.[1]


Benefits
Compared to regular walking, Nordic walking involves applying force to the poles with each stride. Nordic walkers use more of their entire body (with greater intensity) and receive fitness building stimulation not as present in normal walking for the chest, lats, triceps, biceps, shoulder, abdominals, spinal and other core muscles. This extra muscle involvement leads to enhancements over ordinary walking at equal paces such as:

increased overall strength and endurance in the core muscles and the entire upper body
significant increases in heart rate at a given pace
greater ease in climbing hills
burning more calories than in plain walking
improved balance and stability with use of the poles
significant un-weighting of hip, knee and ankle joints
effective weight bearing exercise - creates positive total body bone density-preserving stress
I use plain old wooden sticks, works well>
Kewl!
Kitty  (+ info)

If I have no cancer in my familial history going back 3-4 generations?


Does that mean my own chances of getting cancer are relatively remote? My predicesors were not healthy-lifestyle types either, they smoked, drank, the whole works.
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Oncologists (doctors specializing in cancer) and researchers will tell you that a low incidence of cancer in your family background is preferable in decreasing your chances of developing the illness.

But your chances of developing the illness should by no means be considered remote. Like all people, you have a 25-33% chance of developing it some time within your life. Cancer has been shown to have many contributing factors, only one of which is family history. In considering your family history, you must also take into account the ever-increasing prevalence of carcinogenic materials in the environment that your ancestors didn't have to deal with.

There remains much research to be done about why some individuals and families seem to be more well-insulated against the illness. But until many more concrete answers are known--something which will undoubtedly take many more years--the best measures to reduce your chances of developing cancer are preventative ones, as discussed in the link below.

PS: Several relatives of mine lived long, cancer-free (so far as we know) lives, even though they were life-long smokers and drinkers who exercised little and ate unhealthy diets. However, the quality of their lives were compromised dramatically with other illnesses or serious limitations on activity eventually. Few people can abuse themselves chronically and avoid consequences of some kind, cancer or otherwise. In my book, quality beats quantity by a long shot.

______________________  (+ info)

Does anyone have an effective treatment to help with familial (essential) tremor?


What meds help? What makes it worse?
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Primodone, propanolol have both helped my and my daughter;s tremors.  (+ info)

Has anyone heard of FAP (Familial Adenomatous Polyposis) and has the disease..?


I have it, found out about 7 years ago, and had an ileo-rectal anastomosis, and need to go back in for another op or two and just wondering if there is anyone else who has this, or knows anyone, as the only people that I know that have this are my family. My hubby and I are planning another baby, but I has to much trouble with the first one (painwise) and wondering if hormones can speed up the growth of polyps? (hope this isn't to confusing... it's confusing me lol) Thanks = )
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I know of FAP, it is a painful disorder because of risks but birth control, pregnancy hormones etc should not interfere with FAP, feel free to ask your doctor or your OB, good luck  (+ info)

What it is: Progressive Familial Intrahepatic Cholestasis?


... and what is the best treatment for it?
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From the Cincinnati Children's Hospital website:

"Progressive familial intrahepatic cholestasis (PFIC) is a rare inherited condition in which children are unable to drain bile from the liver even though the large bile ducts are open (called cholestasis).

This usually begins in infants less than six months of age and may get worse very quickly. However, some children initially show signs later, even as late as the teen years, and the condition progresses more slowly. Nearly all children with progressive familial intrahepatic cholestasis will require treatment before age 30.

In many cases, progressive familial intrahepatic cholestasis leads to cirrhosis (irreversible scarring of the liver) and liver failure within the first 10 years of life. A liver transplant may be necessary for survival.

Treatment:

Some patients may respond to medical therapy, although surgical treatment is usually necessary for survival.

Surgical treatment used in children with progressive familial intrahepatic cholestasis includes liver transplantation for cirrhosis and partial external biliary diversion (PEBD).

Liver Transplantation

Liver transplantation may be used if partial external biliary diversion is ineffective or if the patient has liver cirrhosis. It is the only effective treatment of high-GGT PFIC.

Most progressive familial intrahepatic cholestasis disorders progress to end-stage liver disease and require liver transplantation. Treatment focuses on minimizing growth failure and decreasing discomfort as the child awaits liver transplantation. Survival rates for liver transplantation to treat progressive familial intrahepatic cholestasis are excellent.

Partial External Biliary Diversion (PEBD)

Partial external biliary diversion may be used as the first choice of treatment for patients who have not yet developed cirrhosis. This treatment helps reduce the circulation of bile acids in the liver in order to reduce complications and prevent the need for early transplantation in many patients.

This surgical technique involves isolating a segment of intestine 10 cm long for use as a biliary conduit (a channel for the passage of bile) from the rest of the intestine. One end of the conduit is attached to the gallbladder and the other end is brought out to the skin to form a stoma (a surgically constructed opening to permit the passage of waste).

Partial external biliary diversion is used for patients who are unresponsive to all medical therapy, especially older, larger patients. This procedure may not be of help to young patients such as infants. Partial external biliary diversion may decrease the intensity of the itching and abnormally low levels of cholesterol in the blood."  (+ info)

autism prevention is there is key factor involved in non-familial cases?


Autism is not a new disorder, what are the risk factors?
The male biological clock is no joke for the affected children.

Beverly Sills, she married Peter Greenough when he was at least 39 and had three normal children from a prior marriage. Their two children are extremely affected by his older paternal age it seems.
She met Greenough in Cleveland while on a 1955 tour with City Opera. "He winked, which I thought was pretty corny," Ms. Sills told The Christian Science Monitor in 1985, "but it worked." Greenough died last year.

Ms. Sills had three stepchildren from Greenough's previous marriage and two children with her husband: a son, Peter Jr., who is autistic and mentally retarded, and a daughter, Meredith, who suffers from multiple sclerosis and who is deaf.
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Recent studies suggest a link between the age of the father at conception and an increased risk for the child having autism. The older the man, the higher risk. Much like the risk of women of advanced maternal age having a child with Down Syndrome.

It is still being studied.  (+ info)

Plz help giving details of beta amyloid protein and tau protein in celebral artery-how formed-how to stop it-?


Plz help giving details of beta amyloid protein and tau protein in celebral artery-how formed-how to stop it-role of cholestrole-how plaques and tangels are busted out or dissolved?
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Unfortunately, little is known in this area. There are ongoing trials for medications to treat amyloid plaques, but unfortunately they aren't looking that good now. A lot more research and trials are needed.  (+ info)

Has anyone been diagnosed with Familial Mediterreanean Fever? If so, how do you cope?


Familial Mediterranean Fever is a rare genetic disorder that mimics the symptoms of severe flu, chronic fatigue syndrome, and fibromyalgia.
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I certainly would prefer not to have it but...

I'm on Colchicine 1 mg a day. I once was on 1.5 mg a day (for 15 years) and I'm allowed to go up to 2 mg. That's the main thing. The crises are by far less frequent and less severe.

I purposedly losed weight because fat releases certain hormones linked to inflamation. It didn't help much for FMF, but did some wonders with girls.

I do not know why but certain food seems to help, others to be bad :

Bad : whole cheese especially when taken with beer. Dont' ask me why I was doing that.

Good : european, heavy, coffee, good, heavy, red wine. White wine does nothing. Alcools does not help - except for my mood.

I try to live a healthy life, and to do sport when I can.

A good thing to do is to learn when the crisis is coming and immediately take a second pill or half a pill (1mg, or 0.5 mg) on that very day. It wipes off some of the crises.

NB - I use the french brand of Cochicine. Seems to work better (Im french but I do not live in France). Colchimax, the one with some antidiarhetic in it does not work (on me, and some others).  (+ info)

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