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Down’s syndrome is caused by the presence of an extra chromosome number 21 in the cells of the developing baby. About one in every 700 babies are born with Down’s syndrome. Usually it is not inherited and so a baby can be affected even if there is no history of Down’s syndrome in the family.

Down’s syndrome is the most common cause of severe mental handicap and is often associated with physical problems such as heart defects or difficulties with sight and hearing. It is not possible to access the degree of handicap before the baby is born. Nine out of ten babies with Down’s syndrome will survive their first year and nearly half of these will reach 60 years age.

What are open neural tube defects?

The two main kinds of neural tube defects (NTDs) are spina bifida and anencephaly. Babies with spina bifida have an opening in the bones of the spine which can result in damage to the nerves controlling the lower part of the body. This causes weakness and paralysis of the legs and sometimes bowel and bladder problems. Babies with spina bifida are also more likely to have a collection of fluid in the brain, called hydrocephalus, which can be treated surgically but can lead to mental handicap.

Babies with anencephaly have a large part of the skull missing and the brain is not properly formed. They always die before or very soon after they are born.

In about one in every five babies with spina bifida the spinal opening is covered with skin or thick tissue. This is called close spina bifida and will not be detected by blood test. This condition is usually less severe than open spina bifida.

What does the serum screening test involve?

A sample of the blood is taken between 15 and 20 weeks of pregnancy (16 – 18 weeks is the best time to the screen for open neural tube defects). The stage of pregnancy is the best estimated by an ultrasound dating scan. The levels of three substances in the blood will be measured and compared with the average levels for the same stage of pregnancy. The substances are:
1. AFP
2. uE3
3. β-hCG
The concentrations of these three substances are used with the maternal age to estimate the risk of Down’s syndrome in the pregnancy. The level of AFP is also used to determine if there is an increased risk of spina bifida or anencephaly.

What is the risk?

A risk is the chance of an event occurring. For example: a risk of Down’s syndrome of 1 in 100 means if 100 women have this test result, we would expect that one of these women would have a baby with Down’s syndrome and that 99 would not.  This is the same as a 1% chance that the baby has Down’s syndrome and 99% chance that the baby does not.

What does a screen negative result mean?

If the risk of Down’s syndrome, based on the maternal age and the levels of the three blood markers, is lower than 1 in 270 and AFP level is not high, then the result is called Screen-Negative and a diagnostic test would not be offered.

What does a screen positive result mean?

A screen positive result means that you are in a higher risk group for having a baby with Down’s syndrome or a neural tube defect. If your result is in this group, you will be offered a diagnostic test.
The result is called screen-positive if

1. The risk of Down’s syndrome in your pregnancy is 1 in 270 or greater. About 1 in every 20 women screened will be in this group. Or
2. The AFP level is more than two and a half times higher than the normal level.
About 1 in every 40 women screened will be in this risk group.
Most women with screen-positive results do not have a pregnancy with Down’s syndrome or a neural tube defect. For example : Of 50 women with screen positive results for Down’s syndrome, only one would actually have a pregnancy with Down’s syndrome.

Can any other abnormality be identified?

The risk of Trisomy 18 (a rare and a usually fatal abnormality) can be estimated using AFP, uE3 and β-hCG. In cases where risk is high this is reported.

Why do you take age into account?

Any women could have a baby with Down’s syndrome, whatever her age, but likelihood of this happening does increase as a woman gets older and so we use age as one of the factors when working your risk of pregnancy with Down’s syndrome. It also means that an older woman is more likely to have a result in the higher risk group (screen-positive) and so be offered a diagnostic test.

Most people know someone who’ve had a dermoid cyst. These are very odd type of cysts. They come from tissue that’s developed from early stages of development, when the woman was with a fetus, so these cells have the potential - something like stem cells that you read about; they have the potential to become other types of cells. In dermoid cysts, these cells can develop into all types of tissue. I’ve seen them, most commonly they form hair. I’ve seen one that had a row of teeth, if you can believe that. They can have bone - basically anything that looks like - that appear in the human body, they can form. And more importantly is they also accumulate fluid most of the time. So they tend to by cystic and solid, and they’re called dermoid cysts. These are almost always benign. Ninety-nine percent of them in all age groups are benign. There’s a small percentage that are cancerous, but again, that’s rare.

So, we’ve got endometriomas, dermoid cysts, and I think the next type that’s probably gonna be most familiar to women are polycystic ovaries. In fact, a lot of women will say, well the doctor told me I’ve got cystic ovaries or polycystic ovaries. This is kind of a bad term, but it’s stuck around since probably in the 1930’s. There was a syndrome by Stein that’s called Stein, S-t-e-i-n, Leventhal, L-e-v-e-n-t-h-a-l, Syndrome that was described in the ’30s. And it was - it’s an array of symptoms that actually accompany these polycystic ovaries. And sometimes the odd thing is the cystic ovaries aren’t there. But originally it was reported, and they have certain things such as the women typically do not have - they’re not fertile. Many times they don’t have regular periods, called anovulatory cycles, no periods. Or they could have very irregular periods.

Typically - probably one of the most typical symptoms is hirsutism, where the women develop a male pattern of hair distribution, and can be over a - usually it’s a fairly longer period of time, where you get central hair distribution, facial hair. And certainly every woman that hears this, and she sees that she’s got a hair on her skin and chin shouldn’t think that she’s got Stein-Leventhal syndrome. But the hirsutism is probably one of the number one symptoms that cause a lot of women to go to a doctor or a gynecologist.

She’s probably been using various creams. She might even have tried electrolysis, and the hairiness, if you will, gets substantially worse, and she ultimately goes in. So we’ve got the hirsutism, we’ve got the irregular cycles associated with infertility. The other major point about this polycystic ovary which Manhatten OB/GYN Christopher Freville refers to along with infertility, is obesity. Many, a large percentage of women are obese, body mass index is, I think it’s greater than 30, meaning basically they’re overweight, and oftentimes substantially so.

And then you’ve also got some other symptoms that are not as readily available, but one of the associate symptoms or complexes associated with this that’s been more recently looked at is diabetes. That women with this so-called polycystic ovary disease have a difficulty with their insulin not reacting properly, or high insulin levels. And these are treatable, but until they understand the insulin problem by having it diagnosed, they probably don’t know they have it.

So you’ve got this polycystic ovary disease, if you will, which isn’t contagious. It again has the - the thing that we’re including it in this discussion is because the cysts are there, oftentimes they can’t really be felt on exam. They are very small, maybe one or two centimeters.
About the author: Hillary Templeton gives advice to women of all types of ovarian cysts on her website. Click here for more information on dermoid cysts.
Source: http://www.articlesbase.com

Diabetes was noticed by primordial civilizations and even treated in the Middle Ages; however the specific cause of this disease remains a mystery to modern day science. Also for unknown reasons, rates of diagnosis steadily increased over the last 20 years and the American Diabetes Association now declares diabetes an epidemic.

Adequate care and funding for years was substandard despite the spike in diagnosis - and only recently has the bar been raised to where it is today. Through grassroots efforts, both international and national, the standard of care has been raised. This has been vital in the life expectancy, quality of life and equal opportunity employment for those affected by the disease.

The disease is not to be taken lightly as resulting complications can include but are not limited to heart disease, blindness, nerve damage, kidney damage, and blood vessel damage. A dedication to rigid management and control is the fundamental armor needed for the daily battle against the disease.

Diabetes is a physiological syndrome in which the body does not produce or adequately use insulin; the vital hormone needed to convert sugar, starches and other food into energy. Climbing rates and jumping statistics now lead researchers to believe that genetics is not the only role in a diabetes diagnosis. Obesity, specifically a “Western-diet,” may be key players in this potentially debilitating disease.

Whether newly diagnosed or a life long diabetic, it is never too late to begin a diabetic care regimen. As an active participant in their own health care, the patient should work out a detailed health plan stating diet and exercise requirements, as well as consistent intake of pills and insulin. Specifically, managing the body’s blood glucose level and keeping it as close to normal as possible helps patients feel better in their day to day life and reduces the risk these long term complications.

Every patient should have a blood glucose meter, using their doctor’s guidance in choosing such a tool. This meter gives a blood glucose level at any one time and the number on the monitor should be documented. Keeping a log of these levels is an essential addition to the process; the pattern can potentially shed light on the body’s response (or lack of) to treatments. Changes can then be made accordingly and systematically.

Medical management of diabetes, for many, is not as frustrating as the emotional management. Meters and tools spit out numbers, levels and percentages – tangible, comprehensible data that can be adjusted. These numbers however, if not up to par, can trigger feelings of anger, depression, and frustration within the patient.

Patients should always keep in mind that numbers and levels should not be used as the mode for judgment. They are simply a way to track patient care plans and do not reflect the person behind the disease.

However, this is always easier said than done. The American Diabetes Association maintains a thorough website loaded with information and should be used as an available tool for gaining knowledge and support (www.diabetes.org ). For many diabetics, as well as their loved ones, volunteering in the fight against diabetes is a rewarding way to gain control and find community support. Gaining power over diabetes is not only physically beneficial, but mentally and emotionally stabilizing.

By: Maryann Loprete
Edited By: Bruce A. Tucker
Source: http://www.articlesbase.com