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Showing posts with label fractures. Show all posts
Showing posts with label fractures. Show all posts

Wednesday, October 22, 2008

A Simple Guide to Osteogenesis Imperfecta

A Simple Guide to Osteogenesis Imperfecta
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What is Osteogenesis Imperfecta(also known as Brittle Bones)?
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Osteogenesis imperfecta (OI) is an inherited disorder of the connective tissue resulting in imperfect bone formation and hence causing fractures in childhood.
It also causes fractures in adults.

Who is at risk of Osteogenesis Imperfecta?
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Osteogenesis Imperfecta is a congenital condition affecting 2 forms of genetic disorder:
1.autosomal dominant - usually milder with frequent fractures

2.autosomal recessive - usually more severe and can lead to early death

Therefore there is always a family history of fractures of children in the family.

usually resulting from abnormalities of the genes that control the production of a protein called ; it has nothing to do with the calcium part of bone, which is what shows up on X-rays


What causes Osteogenesis Imperfecta?
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Osteogenesis Imperfecta is a condition resulting from impaired maturation of the collagen fibres or synthesis of abnormal collagen.

Collagen is the main protein in bone and is necessary for the bone to form strong bone matrix.
The abnormal collagen results in soft fragile bones, ligamentous laxity and thin sclera.

In the autosomal dominant form of Osteogenesis Imperfecta, the condition can be passed from one generation to the next.

Sometime the cause is a new genetic mutation which results in the Osteogenesis Imperfecta.
There is no previous history of Osteogenesis Imperfecta.
This has been seen in IVF of frozen egg from mothers trying for a pregnancy.


What are the symptoms of Osteogenesis Imperfecta?
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Symptoms:
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1.fractures is the most common symptom especially in newborns.
Multiple fractures may occur easily in the newborns and pose a danger to life.
As the child grow older the risk of fractures decreases especially after puberty.

2.lax joints

3.eyes conjunctiva(white)may be blue or grey.

4.teeth may be discoloured and fragile.

5.increased liability to bruising due to the abnormal collagen in the lining of small blood vessels.

6.Deafness is due to problems in the small bones in the middle ear which may be fractured or deformed so that sound waves cannot be transmitted easily to the inner ear

7.Hernias are due to poor formation of collagen fibres or abnormal collagen in the muscles.

8.Excessive sweating or intolerance of heat - the cause of this is unknown.

9.Dwarfism and structural abnormalities may occur due to basic defect and frequent fractures

10.Mental development is not affected

How do you made the diagnosis of Osteogenesis Imperfecta?
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Diagnosis of Osteogenesis Imperfecta is often based on
1. history and pattern of fractures

2. blue or gray whites of the eyes.

3.X-rays in severe cases -shows previous fractures and deformities
The bones may appear demineralised .

4.wormian bones are additional small bones seen in the sutures between the scalp bones.
They occur in 50% cases of Osteogenesis Imperfecta.

5.Specialised test for diagnosis of Osteogenesis Imperfecta involve taking a small piece of skin, culturing the cells and chemically examining the collagen produced.

6.Another specialized test uses a blood sample to search for mutations of the genes coding for the collagen of bone.


What are the complications of Osteogenesis Imperfecta?
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The complications of Osteogenesis Imperfecta are:

1. multiple frequent fractures of the bone,

2. deformities of the bone and body

3. death in newborns from multiple fractures


What is the treatment of Osteogenesis Imperfecta?
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1.Good treatment of fractures to make sure that the bones healed without deformities.
Immobilization of fractures can lead to the loss of bone so early mobilization of the patient is important.

2.Surgical use of fixed or telescopic metal rods inserted into the shafts of bones can prevent appreciable deformity.

3.occupational therapy is important in preventing falls especially with handrails and other adaptation to the home.

4.no drug treatment including growth hormone have been effective.
Various bisphosphonate drugs trials are in progress.
There has encouraging evidence of their effectiveness in some patients.

5.Women with Osteogenesis Imperfecta may try Hormone Replacement Therapy(HRT) at menopause since HRT has been know to improve the bone structure and also prevent heart attacks.
However there is a very small risk of breast cancer.

In the case of Osteogenesis Imperfecta ,the advantages of HRT may be greater than the disadvantages as the chances of fractures is higher after the menopause.

6.Stopping smoking is important because smoking diminishes the bone by up to 5 per cent, thus increasing the risk of fractures.


What is the prognosis of Osteogenesis Imperfecta?
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Prognosis depends on the severity of Osteogenesis Imperfecta.

In very severe cases, death within several years

In less severe cases, multiple and frequent fractures may occur followed by deformities.




Tuesday, September 4, 2007

A Simple Guide to Osteoporosis


A Simple Guide to Osteoporosis
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What is Osteoporosis?
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Osteoporosis, which literally means porous bones, is a condition in which the bones become weak and brittle, resulting in a greater likelihood of breaking after minor trauma.
Bone is constantly being removed and replaced in our body.
Osteoporosis occurs when bone is lost faster than it can be replaced.

What are the symptoms of Osteoporosis?
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Osteoporosis is a silent disease. People with osteoporosis often do not know that they have the condition. Fractures from osteoporosis commonly occur in the wrist, spine and hip.
Persons with hip fractures suffers considerable loss of function and becomes dependent on others.

What are the risk factors of developing Osteoporosis?
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Factors that will increase the risk of developing osteoporosis are:
Female gender;
Caucasian or Asian race;
Thin and small body frames;
Family history of osteoporosis ;
Personal history of fracture as an adult;
Cigarette smoking ;
Excessive alcohol consumption;
Lack of exercise;
Diet low in calcium;
Poor nutrition and poor general health;
Malabsorption syndromes(nutrients poorly absorbed from the gastrointestinal system)
Low estrogen levels (such as occur in menopause or early surgical removal of both ovaries); Chemotherapy can cause early menopause due to its toxic effects on the ovaries;
Amenorrhea (loss of menstrual period) in young women causes low estrogen and osteoporosis;
Chronic inflammation, due to diseases (such as rheumatoid arthritis,chronic liver diseases);
Immobility, such as after a stroke, or from any condition that interferes with walking;
Hyperthyroidism, a condition with too much thyroid hormone ;
Hyperparathyroidism, a disease with excessive parathyroid hormone. In untreated hyperparathyroidism, excessive parathyroid hormone causes too much calcium to be removed from the bone, which can lead to osteoporosis;
Vitamin D deficiency. When vitamin D is lacking, the body cannot absorb adequate amounts of calcium to prevent osteoporosis.
Certain medications can cause osteoporosis. These include long-term use of heparin (a blood thinner), anti-seizure medications phenytoin (Dilantin) and phenobarbital, and long term use of oral corticosteroids (such as Prednisone).

How do you Screen for Osteoporosis?
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Bone Mineral Density:
Routine X-rays cannot detect osteoporosis until it is quite advanced and there is a lot of bone loss.
The best way to detect osteoporosis is to carry out a Bone Mineral Density (BMD) test to measure density (solidness) at various sites (e.g. hip, spine).
It will help to assess your risk of having a fracture.
BMD is frequently measured by dual energy X-ray absorptiometry (DXA).
It is a painless procedure.

How is osteoporosis diagnosed?
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A routine x-ray can reveal osteoporosis of the bone, which appears much thinner and lighter than normal bones. Unfortunately, by the time x-rays can detect osteoporosis, at least 30% of the bone has already been lost.
DXA measures bone density in the hip and the spine. The test takes only 5 to 15 minutes to perform, uses very little radiation and is quite precise.

Who should have bone density testing?
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All postmenopausal women below age 65 who have risk factors for osteoporosis;
All women aged 65 and older;

What are the consequences of Osteoporosis?
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Osteoporosis bone fractures are responsible for considerable pain, decreased quality of life, lost workdays, and disability.
Elderly patients can further develop pneumonia and blood clots in the leg veins that can travel to the lungs (pulmonary embolism) due to prolonged bed rest after a hip fracture.
Some 20% of women with a hip fracture will die in the subsequent year as an indirect result of the fracture.

How is osteoporosis treated and prevented?
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The purpose of osteoporosis treatment is the prevention of bone fractures by stopping bone loss and by increasing bone density and strength.
Early detection and timely treatment of osteoporosis can substantially decrease the risk of future fracture.
There is no complete cure for osteoporosis .
There is no way to completely rebuild bone that has been weakened by osteoporosis.
Therefore, prevention of osteoporosis is as important as treatment.

Osteoporosis treatment and prevention measures are:
Lifestyle Changes:
1.Exercise has a wide variety of beneficial health effects especially weight-bearing exercise, such as walking.
However, exercise does not bring about substantial increases in bone density.
The benefit of exercise for osteoporosis has mostly to do with decreasing the risk of falls, probably because balance is improved and/or muscle strength is increased.
It is important to avoid exercises that can injure already weakened bones.
In patients over 40 and those with heart disease, obesity, diabetes mellitus, and high blood pressure , exercise should be monitored.
Cessation of Smoking :Smoking cigarettes decreases estrogen levels and can lead to bone loss in women before menopause.
Decrease regular consumption of alcohol and caffeine on osteoporosis is not as clear as with exercise and cigarette.

Medications:
1.Medications that stop bone loss and increase bone strength, such as
alendronate (Fosamax),
risedronate (Actonel),
raloxifene (Evista),
ibandronate (Boniva),
calcitonin (Calcimar);
2.Medications that increase bone formation such as teriparatide (Forteo).
3..Calcium Supplements
Building strong and healthy bones requires an adequate dietary intake of calcium and exercise beginning in childhood and adolescence for both sexes.
800 mg/day for children ages 1 to 10
1000 mg/day for men, premenopausal women, and postmenopausal women also taking estrogen
1200 mg/day for teenagers and young adults ages 11 to 24
1500 mg/day for post menopausal women not taking estrogen 1200mg to 1500 mg/day for pregnant and nursing mothers
The total daily intake of calcium should not exceed 2000 mg
Daily calcium intake can be calculated by the following method:
Excluding dairy products, the average diet contains approximately 250 mg of calcium;
There is approximately 300 mg of calcium in an 8-ounce glass of milk;
There is approximately 450 mg of calcium in 8 ounces of plain yogurt;
There is approximately 1300 mg of calcium in 1 cup of cottage cheese;
There is approximately 200 mg of calcium in 1 ounce of cheddar cheese;
There is approximately 90 mg of calcium in ½ cup of vanilla ice cream;
There is approximately 300 mg of calcium in 8 ounces of calcium-fortified orange juice.
Additional calcium can be obtained by drinking more milk and eating more yogurt or cottage cheese, or by taking calcium supplement tablets as well from calcium-fortified foods.
Calcium supplements are safe and generally well tolerated.
Side effects are indigestion and constipation.
4.Vitamin D:
Vitamin D is important in several respects:
Vitamin D helps the absorption of calcium from the intestines.
A lack of vitamin D causes calcium-depleted bone (osteomalacia), which further weakens the bones and increases the risk of fractures.
Vitamin D, along with adequate calcium (1200 mg of elemental calcium), has been shown in some studies to increase bone density and decrease fractures in older postmenopausal, but not in premenopausal or perimenopausal women.
Vitamin D comes from the diet and the skin. Vitamin D production by the skin is dependent on exposure to sunlight. Daily Vitamin D intake are:
200 IU daily for men and women 19 to 50 years old,
400 IU daily for men and women 51 to 70 years old, and
600 IU daily for men and women 71 years and older.
But if a person already has osteoporosis, it is advisable to ensure 400 IU twice per day as usual daily intake, most commonly as a supplement alongside prescription osteoporosis medication.
5.Hormone therapy (menopausal hormone therapy)
Menopausal hormone therapy (previously referred to as hormone replacement therapy or HRT) has been shown to prevent bone loss, increase bone density, and prevent bone fractures. It is useful in preventing osteoporosis in postmenopausal women.
Medications that prevent bone loss and breakdown

How do you monitor Osteoporosis?
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Repeat bone density testing (DXA scans) is NOT indicated in monitoring osteoporosis treatment or prevention on a routine basis.
Bone density changes so slowly with treatment that the changes are smaller than the measurement error of the machine.
The real purpose of osteoporosis treatment is to decrease future bone fractures.
There is no good correlation between increases in bone density with decreases in fracture risks with treatment.
In the future, however, if ongoing research brings new technology or new therapies, testing decisions will clearly change.


Added 4th October 2008
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Osteoporosis
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One way of determining the risk of Osteoporosis:
substract the weight in kg from the age in years.

If the number is less than 0 the risk is low

If the number is between 0-20 the risk is moderate

If the number is above 20 the risk is high and you should see the doctor.

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