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Ailmemts & Remedies

Achondroplasia

Definition:
Achondroplasia is a genetic (inherited) bone disorder that occurs in one in 25,000 live births. Achondroplasia is the most common type of dwarfism, in which the child’s arms and legs are short in proportion to body length. Further, the head is often large and the trunk is normal size. The average height of adult males with achondroplasia is 52 inches (or 4 feet, 4 inches). The average height of adult females with achondroplasia is 49 inches (or 4 feet, 1 inch).

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When a baby is developing in the womb, the skeleton first forms out of cartilage, which then this develops into bone (except in certain areas such as the nose or ears where cartilage remains).

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In achondroplasia, this process doesn’t happen as it should, especially in the long bones of the arms and legs. Instead, the cartilage cells in the growth plates turn only very slowly into bone.


Symptoms:

The following are the most common symptoms of achondroplasia. However, each child may experience symptoms differently. Symptoms may include:

*shortened arms and legs, with the upper arms and thighs more shortened than the forearms and lower legs

*large head size with prominent forehead and a flattened nasal bridge

*crowded or misaligned teeth

*curved lower spine – a condition also called lordosis (or “sway-back”) which may lead to kyphosis, or the development of a small hump near the shoulders that usually goes away after the child begins walking.

*small vertebral canals (back bones) – may lead to spinal cord compression in adolescence. Occasionally children with achondroplasia may die suddenly in infancy or early childhood in their sleep due to compression of the upper end of the spinal cord, which interferes with breathing.

*bowed lower legs

*flat feet that are short and broad

*extra space between the middle and ring fingers (Also called a trident hand.)

*poor muscle tone and loose joints

*frequent middle ear infections which may lead to hearing loss

*normal intelligence

*delayed developmental milestones such as walking (which may occur between 18 to 24 months instead of around one year of age)

These bone abnormalities can lead to a range of health problems, as well as psychological trauma caused by the stigma of looking different from the crowd. Most children with achondroplasia have normal intelligence.

Babies with achondroplasia may have poor muscle tone and be slow to stand and walk. Spinal problems can develop, and the lower part of the legs may become bowed. There may be dental problems because teeth are often crowded and poorly aligned. Middle ear infections occur frequently and can cause mild to moderate hearing loss.

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Causes:
Achondroplasia is inherited by an autosomal dominant gene that causes abnormal cartilage formation. Autosomal dominant inheritance means that the gene is located on one of the autosomes (chromosome pairs 1 through 22). This means that males and females are equally affected. Dominant means that only one gene is necessary to have the trait. When a parent has a dominant trait, there is a 50 percent chance that any child they have will also inherit the trait. So, in some cases, the child inherits the achondroplasia from a parent with achondroplasia. The majority of achondroplasia cases (80 percent), however, are the result of a new mutation in the family – the parents are of average height and do not have the abnormal gene.

As mentioned, persons with achondroplasia have a 50 percent chance to pass the gene to a child, resulting in the condition. If both parents have achondroplasia, with each pregnancy, there is a 50 percent chance to have a child with achondroplasia, a 25 percent chance that the child will not inherit the gene and be of average height, and a 25 percent chance that the child will inherit one abnormal gene from each parent, which can lead to severe skeletal problems that often result in early death.

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Geneticists have found that fathers who are older than 45 have a higher chance of having children with certain autosomal dominant conditions such as achondroplasia, but no cause for the new mutations in sperm has been discovered at this time.

The gene responsible for achondroplasia was discovered in 1994 making accurate prenatal diagnosis available, in most cases.

There are two other syndromes with a genetic basis similar to achondroplasia: hypochondroplasia and thanatophoric dysplasia.

In approximately 75 per cent of cases the problem results from a new mutation of a gene (that is, neither parent carries the faulty gene), but in some cases a child inherits achondroplasia from a parent who also has the condition. There is also a link with older fathers, over the age of 40.

Diagnosis:

Achondroplasia can be diagnosed before birth by fetal ultrasound or after birth by complete medical history and physical examination. DNA testing is now available before birth to confirm fetal ultrasound findings for parents who are at increased risk for having a child with achondroplasia.A DNA test can be performed before birth to detect homozygosity, wherein two copies of the mutant gene are inherited, a lethal condition leading to stillbirths.
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Radiologic findings:
A skeletal survey is useful to confirm the diagnosis of achondroplasia. The skull is large, with a narrow foramen magnum, and relatively small skull base. The vertebral bodies are short and flattened with relatively large intervertebral disk height, and there is congenitally narrowed spinal canal. The iliac wings are small and squared,[4] with a narrow sciatic notch and horizontal acetabular roof. The tubular bones are short and thick with metaphyseal cupping and flaring and irregular growth plates. Fibular overgrowth is present. The hand is broad with short metacarpals and phalanges, and a trident configuration. The ribs are short with cupped anterior ends. If the radiographic features are not classic, a search for a different diagnosis should be entertained. Because of the extremely deformed bone structure, people with achondroplasia are often double jointed.

The diagnosis can be made by fetal ultrasound by progressive discordance between the femur length and biparietal diameter by age. The trident hand configuration can be seen if the fingers are fully extended.

Another distinct characteristic of the syndrome is thoracolumbar gibbus in infancy.


Treatment :

Currently, there is no way to prevent or treat achondroplasia, since the majority of cases result from unexpected new mutations. Treatment with growth hormone does not substantially affect the height of an individual with achondroplasia. Leg-lengthening surgeries may be considered in some very specialized cases.

Detection of bone abnormalities, particularly in the back, are important to prevent breathing difficulties and leg pain or loss of function. Kyphosis (or hunch-back) may need to be surgically corrected if it does not disappear when the child begins walking. Surgery may also help bowing of the legs. Ear infections need to be treated immediately to avoid the risk of hearing loss. Dental problems may need to be addressed by an orthodontist (dentist with special training in the alignment of teeth).

There is research into the family of genes called fibroblast growth factors, in which the gene that causes achondroplasia is included. The goal is to understand how the faulty gene causes the features seen in achondroplasia, in order to lead to improved treatment. These genes have been linked to many heritable skeletal disorders.

However, if desired, the controversial surgery of limb-lengthening will lengthen the legs and arms of someone with achondroplasia.

Usually, the best results appear within the first and second year of therapy.  After the second year of GH therapy, beneficial bone growth decreases. Therefore, GH therapy is not a satisfactory long term treatment.

Prognosis:
People with achondroplasia seldom reach 5 feet in height. Intelligence is in the normal range. Infants who receives the abnormal gene from both parents do not often live beyond a few months.

Complications:
* Clubbed feet
* Fluid build up in the brain (hydrocephalus)

Epidemiology:

Achondroplasia and is one of several congenital conditions with similar presentations, such as osteogenesis imperfecta, multiple epiphyseal dysplasia tarda, achondrogenesis, osteopetrosis, and thanatophoric dysplasia. This makes estimates of prevalence difficult, with changing and subjective diagnostic criteria over time. One detailed and long-running study in the Netherlands found that the prevalence determined at birth was only 1.3 per 100,000 live births.  However, another study at the same time found a rate of 1 per 10,000.


Prevention:

Genetic counseling may be helpful for prospective parents when one or both have achondroplasia. However, because achondroplasia most often develops spontaneously, prevention is not always possible.

* Reviewed last on: 11/2/2009
* Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

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.yalemedicalgroup.org/stw/Page.asp?PageID=STW026342
http://en.wikipedia.org/wiki/Achondroplasia
http://www.bbc.co.uk/health/physical_health/conditions/achondroplasia1.shtml
http://www.umm.edu/ency/article/001577all.htm

http://wikis.lib.ncsu.edu/index.php/Group_6_HYALOS_(hyaline_cartilage)

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Healthy Tips

Ways To Keep Healthy Heart

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A chat with Dr.Devi Shetty, Narayana Hrudayalaya
(Heart Specialist) Bangalore was arranged by WIPRO for its employees.
The transcript of the chat is given below. May be useful for most of us

Qn: What are the thumb rules for a layman to take care of his heart?

Ans:
1. Diet – Less of carbohydrate, more of protein, less oil
2. Exercise – Half an hour’s walk, at least five days a week; avoid lifts and avoid sitting for a longtime
3. Quit smoking
4. Control weight
5. Control blood pressure and sugar

Qn: Is eating non-veg food good for the heart?

Ans: No

Qn: It’s still a grave shock to hear that some apparently healthy person
gets a cardiac arrest. How do we understand it in perspective?

Ans: This is called silent attack; that is why we recommend everyone past the age of 30 to undergo routine health checkups.

Qn: Are heart diseases hereditary?

Ans: Yes

Qn: What are the ways in which the heart is stressed? What practices do you suggest to de-stress?

Ans: Change your attitude towards life. Do not look for perfection in everything in life.

Qn: Is walking better than jogging or is more intensive exercise required to keep a healthy heart?

Ans: Walking is better than jogging since jogging leads to early fatigue and injury to joints.

Qn: You have done so much for the poor and needy. What has inspired you to do so?

Ans: Mother Theresa, who was my patient.

Qn
: Can people with low blood pressure suffer heart diseases?

Ans: Extremely rare

Qn: Does cholesterol accumulates right from an early age
(I’m currently only 22) or do you have to worry about it only after you are above 30 years of age?

Ans: Cholesterol accumulates from childhood.

Qn: How do irregular eating habits affect the heart?

Ans: You tend to eat junk food when the habits are irregular and your body’s enzyme release for digestion gets confused.

Qn: How can I control cholesterol content without using medicines?

Ans: Control diet, walk and eat walnut.

Qn: Can yoga prevent heart ailments?

Ans: Yoga helps.

Qn: Which is the best and worst food for the heart?

Ans: Fruits and vegetables are the best and the worst is oil.

Qn: Which oil is better – groundnut, sunflower, olive?

Ans: All oils are bad .

Qn: What is the routine checkup one should go through? Is there any specific test?

Ans
: Routine blood test to ensure sugar, cholesterol is ok. Check BP, Treadmill test after an echo.

Qn: What are the first aid steps to be taken on a heart attack?

Ans: Help the person into a sleeping position , place an aspirin tablet under the tongue with a sorbitrate tablet if available, and rush him to a coronary care unit since the maximum casualty takes place within the first hour.

Qn: How do you differentiate between pain caused by a heart attack and that caused due to gastric trouble?

Ans: Extremely difficult without ECG.

Qn: What is the main cause of a steep increase in heart problems amongst youngsters? I see people of about 30-40 yrs of age having heart attacks and serious heart problems.

Ans: Increased awareness has increased incidents. Also, sedentary lifestyles, smoking, junk food, lack of exercise in a country where people are genetically three times more vulnerable for heart attacks than Europeans and Americans.

Qn: Is it possible for a person to have BP outside the normal range of 120/80 and yet be perfectly healthy?

Ans: Yes.

Qn: Marriages within close relatives can lead to heart problems for the child. Is it true?

Ans: Yes, co-sanguinity leads to congenital abnormalities and you may not have a software engineer as a child

Qn: Many of us have an irregular daily routine and many a times we have to stay late nights in office. Does this affect our heart? What precautions would you recommend?

Ans: When you are young, nature protects you against all these irregularities. However, as you grow older, respect the biological clock.

Qn: Will taking anti-hypertensive drugs cause some other complications (short / long term)?

Ans: Yes, most drugs have some side effects. However, modern anti-hypertensive drugs are extremely safe.

Qn: Will consuming more coffee/tea lead to heart attacks?

Ans: No.

Qn: Are asthma patients more prone to heart disease?

Ans: No.

Qn: How would you define junk food?

Ans: Fried food like Kentucky, McDonalds, samosas, and even masala dosas.

Qn:
You mentioned that Indians are three times more vulnerable. What is the reason for this, as Europeans and Americans also eat a lot of junk food?

Ans: Every race is vulnerable to some disease and unfortunately, Indians are vulnerable for the most expensive disease.

Qn: Does consuming bananas help reduce hypertension?

Ans: No.

Qn: Can a person help himself during a heart attack (Because we see a lot of forwarded emails on this)?

Ans: Yes. Lie down comfortably and put an aspirin tablet of any description under the tongue and ask someone to take you to the nearest coronary care unit without any delay and do not wait for the ambulance since most of the time, the ambulance does not turn up.

Qn: Do, in any way, low white blood cells and low hemoglobin count lead to heart problems?

Ans:
No. But it is ideal to have normal hemoglobin level to increase your exercise capacity.

Qn: Sometimes, due to the hectic schedule we are not able to exercise. So, does walking while doing daily chores at home or climbing the stairs in the house, work as a substitute for exercise?

Ans: Certainly. Avoid sitting continuously for more than half an hour and even the act of getting out of the chair and going to another chair and sitting helps a lot.

Qn: Is there a relation between heart problems and blood sugar?

Ans: Yes , a strong relationship , since diabetics are more vulnerable to heart attacks than non-diabetics.

Qn: What are the things one needs to take care of after a heart operation?

Ans: Diet, exercise, drugs on time , Control cholesterol, BP, weight.

Qn: Are people working on night shifts more vulnerable to heart disease when compared to day shift workers?

Ans: No.

Qn:
What are the modern anti-hypertensive drugs?

Ans: There are hundreds of drugs and your doctor will chose the right combination for your problem, but my suggestion is to avoid the drugs and go for natural ways of controlling blood pressure by walk, diet to reduce weight and changing attitudes towards lifestyles.

Qn: Does dispirin or similar headache pills increase the risk of heart attacks?

Ans: No.

Qn: Why is the rate of heart attacks more in men than in women?

Ans: Nature protects women till the age of 45.

Qn: How can one keep the heart in a good condition?

Ans: Eat a healthy diet, avoid junk food, exercise everyday, do not smoke and, go for health checkup s if you are past the age of 30 (once in six months recommended) …

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Featured

Cholesterol Levels in Women

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What are HDL and LDL?
HDL and LDL are two different kinds of cholesterol that are measured as an index of a patient’s risk for cardiovascular disease. HDL stands for high-density lipoprotein and LDL stands for low-density lipoprotein. Total cholesterol measures the combination of HDL and LDL, along with several other factors. The levels of “fats” in the blood-total cholesterol, HDL (a subset called “good cholesterol”) and LDL (“bad cholesterol”) and triglycerides have been used for years to predict the risk of heart disease in men. Higher cholesterol, LDL, triglycerides, and/or low HDL all are associated with increased risk of heart diseases in men.

What do the numbers mean?
Many studies found that women with higher total cholesterol levels also had higher rates of a form of heart disease called coronary artery disease. That is where the arteries to the heart become clogged. This leads to heart attacks. For cholesterol, levels of about 200 or less are generally not associated with much increased heart disease. Women with total cholesterol levels of 265 or more have been found to have this disease two or three times as often as women with levels of about 200. Even mildly elevated levels, of about 235, had about 70% higher rates, than normal.

Men in the same situation are put on a diet and drugs to lower their cholesterol. The goal was to increase HDL, and lower LDL and total cholesterol. Little was done to lower elevated triglyceride levels. The men’s rates of disease dropped. A closer look at the problem in women found something different. Low HDL (“good cholesterol”) levels were the strongest predictor of heart disease in women. These are generally levels less than 50 (mg/dL). Low HDL and high cholesterol go hand in hand for many, which led to the confusion about what was important. Women with total cholesterol levels as low as 200 who also had low HDL levels still had high risks of heart disease. In fact, the best predictor for women, according to one study, was the ratio of cholesterol to HDL. If a woman’s total cholesterol is about 4 times or so of her HDL level, her risk of heart disease skyrockets to up to five times that of her normal counterpart. If her triglycerides are high, her risk goes up, too. Again, that happens even if she has a low total cholesterol level.

Unlike men, a high LDL (“bad cholesterol”) level is not as strong a predictor of future trouble, although there is still considerable debate on this. Some experts believe LDL is not to be worried about for most women, except for particular sub-groups of women who are affected. As one might expect, until we clarify the importance of LDL for women and factor in the additional significance HDL has for women, the HDL/LDL ratio’s significance is muddied.

The Bottom Line

Total cholesterol in and of itself does not matter so much. Look at the other factors and ratios: especially HDL, triglycerides, and the cholesterol to HDL ratio. The significance of LDL and ratios with it are uncertain. Most of all, keep checking for new research. This area is rapidly changing for women.

Source:www.estronaut.com

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Featured

How to grow taller and increase height

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The first and essential formula to grow tall is to have good and appropriate SLEEP and correct sleeping habit.As because growth hormons can only work effectively to thicken the length of your bones when you are sleeping.In general after you pass puberty,your pitutary gland naturally secerts a little growth hormon when you are in a long and deep sleep.Growth hormone can only work effectively to stimulate your bones’ growth when you fall into a long and deep sleep. Short or shallow sleep could interrupt growth hormone’s work and thus stunt growth. Both inappropriate sleeping time and incorrect sleeping habits can cause short or shallow sleep. So appropriate sleeping time (NOT the longer, the better) and correct sleeping habits are all too important for you to grow taller and stronger.

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It is important that DO NOT EAT HEAVILY before you sleep. as growth hormon can only work effectively to thicken and lengthen your bones when you are totally in sleep.It is important that it does not interrupt your body‘s out put of growth hormon during this time.

Each person has his/ her own specific daily sleep requirement. It is not true that the more you sleep, the better it is for your growth. Too much sleep will cause your
body to develop laziness and slow down your metabolism, thus increasing the danger to gain weight. On average, a young adult who is growing needs at least 8 hours of sleep every day. Teens need 9 hours or more. However, this is just an average and may not apply to you precisely. The best way to figure out the exact amount of sleeping time you need is not to calculate it at all. Just sleep early every night, without using an alarm clock, and let yourself wake up naturally. Your body has its own biological clock which can determine the exact amount of sleep it needs. As long as you have a good sleeping habit and do not break it (by forcing yourself to stay up too late or get up too early), your body will take good care of itself. Also, it is easy for you to detect if you get enough sleep each day. If you are energetic and do not feel sleepy or very tired the whole day, then you had enough sleep the previous night. Otherwise, you should readjust your schedule and try to sleep longer

Some special activities are required that can help you to grow taller.Because aside from those regular activities, there are some special activities which are more effective and these activities are very easy to perform by almost anyone. REGULAR SKIPPING OR SYSTEMATIC JUMPING, STRETCHING EXERCISE are some of them.

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