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Kamis, 27 Desember 2012

Vitamin deficiency anemia

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Vitamin deficiency anemia
Vitamin deficiency anemia

Definition:
Vitamin deficiency anemia is a lack of healthy red blood cells caused by lower-than-normal amounts of certain vitamins. The vitamins linked to vitamin deficiency anemia include folate, vitamin B-12 and vitamin C.

Vitamin deficiency anemia can occur if you don't eat enough folate, vitamin B-12 or vitamin C. Or vitamin deficiency anemia can occur if your body has trouble absorbing or processing these vitamins.
The lack of red blood cells caused by vitamin deficiency anemia can cause weakness and shortness of breath. Vitamin deficiency anemia can usually be corrected with vitamin supplements and changes to your diet.

Symptoms:
Signs and symptoms of vitamin deficiency anemia include:
  • Fatigue
  • Shortness of breath
  • Dizziness
  • Pale or yellowish skin
  • Swollen tongue that may appear dark red
  • Weight loss
  • Diarrhea
  • Numbness or tingling in your hands and feet
  • Muscle weakness
  • Irritability
  • Unsteady movements
  • Mental confusion or forgetfulness
Vitamin deficiencies usually develop slowly over several months to years. Vitamin deficiency symptoms may be subtle at first, but they increase as the deficiency worsens.

Causes:
Vitamin deficiency anemia occurs when your body doesn't have enough of the vitamins needed to produce adequate numbers of healthy red blood cells. Red blood cells carry oxygen from your lungs throughout your body. If your diet is lacking in certain vitamins, vitamin deficiency anemia can develop. Or vitamin deficiency anemia may develop because your body can't properly absorb the nutrients from the foods you eat.

Causes of vitamin deficiency anemias, also known as megaloblastic anemias, include:
  • Folate deficiency anemia. Folate, also known as vitamin B-9, is a nutrient found mainly in fruits and leafy green vegetables. A diet consistently lacking in these foods can lead to a deficiency.
    An inability to absorb folate from food can also lead to a deficiency. Most nutrients from food are absorbed in your small intestine. People with diseases of the small intestine, such as Crohn's disease or celiac disease, or those who have had a large part of the small intestine surgically removed or bypassed, may have difficulty absorbing folate or its synthetic form, folic acid. Alcohol decreases absorption of folate, so drinking alcohol to excess may lead to a deficiency. Certain prescription drugs, such as some anti-seizure medications, can interfere with absorption of this nutrient.
    Pregnant women and women who are breast-feeding have an increased demand for folate, as do people undergoing hemodialysis for kidney disease. Failure to meet this increased demand can result in a deficiency.
  • Vitamin B-12 deficiency anemia (pernicious anemia). Vitamin B-12 deficiency can result from a diet lacking in vitamin B-12, which is found mainly in meat, eggs and milk. Vitamin B-12 deficiency anemia can also occur if your small intestine can't absorb vitamin B-12. This may be due to surgery to your stomach or small intestine (such as gastric bypass surgery), abnormal bacterial growth in your small intestine, or an intestinal disease, such as Crohn's disease or celiac disease, that interferes with absorption of the vitamin. Vitamin B-12 deficiency can also be caused by a tapeworm ingested from contaminated fish, because the tapeworm saps nutrients from your body. However, a vitamin B-12 deficiency is most often due to a lack of a substance called intrinsic factor.
    Intrinsic factor is a protein secreted by the stomach that joins vitamin B-12 in the stomach and escorts it through the small intestine to be absorbed by your bloodstream. Without intrinsic factor, vitamin B-12 can't be absorbed and leaves your body as waste. Lack of intrinsic factor may be due to an autoimmune reaction, in which your immune system mistakenly attacks the stomach cells that produce it. Vitamin B-12 deficiency anemia caused by a lack of intrinsic factor is called pernicious anemia.
  • Vitamin C deficiency anemia. Though rare, vitamin C deficiency can develop if you don't get enough vitamin C from the foods you eat. Vitamin C deficiency is also possible if something impairs your ability to absorb vitamin C from food. For instance, smoking impairs your body's ability to absorb vitamin C.
Complications:
Being deficient in vitamins increases your risk of many health problems:
  • Pregnancy complications. Pregnant women with folate deficiency may be more likely to experience miscarriage and deliver babies that are premature or are smaller than average. A developing fetus that doesn't get enough folate from its mother can develop birth defects of the brain and spinal cord. If you're thinking of becoming pregnant, ask your doctor whether you should consider taking folic acid supplements, so your body's stores of folate will be enough to support your baby.
  • Nervous system disorders. While vitamin B-12 is important for the production of red blood cells, it's also important for a healthy nervous system. Untreated, vitamin B-12 deficiency can lead to neurological problems, such as persistent tingling in your hands and feet. It can lead to mental confusion and forgetfulness, because vitamin B-12 is necessary for healthy brain function. Without treatment for vitamin B-12 deficiency, neurological complications can become permanent. Vitamin B-12 deficiency can cause these and other health problems before it leads to anemia.
  • Scurvy. Vitamin C deficiency can lead to scurvy. Signs and symptoms of this rare disease include bleeding under the skin and around the gums.
Treatments and drugs:
Treatment for vitamin deficiency anemia includes supplements and changes in diet.
  • Folate deficiency anemia. Treatment involves eating a healthy diet and taking folic acid supplements as prescribed by your doctor. In most cases, folic acid supplements are taken orally. Once your body's level of folate increases to normal, you may be able to stop taking the supplements. But if the cause of your folate deficiency can't be corrected, you may need to take folic acid supplements for life.
  • Vitamin B-12 deficiency anemia (pernicious anemia). For milder cases of vitamin B-12 deficiency, treatment may involve changes to your diet and vitamin B-12 supplements in pill form or as a nasal spray. In more severe cases, you may receive vitamin B-12 injections. At first you may receive the shots as often as every other day. Eventually you'll need injections just once a month, which may continue for life, depending on your situation.
  • Vitamin C deficiency anemia. Treatment for anemia related to vitamin C deficiency is with vitamin C tablets. Additionally, you increase your intake of foods and beverages that contain vitamin C.
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Dry eyes

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Dry eyes
Dry eyes

Definition:
Dry eyes occur when your tears aren't able to provide adequate moisture for your eyes. Tears can be inadequate for many reasons. For example, dry eyes may occur if you don't produce enough tears or if you produce poor-quality tears.

Dry eyes feel uncomfortable. If you have dry eyes, your eyes may sting or burn. You may experience dry eyes in certain situations, such as on an airplane, in an air-conditioned room, while riding a bike, or after looking at a computer screen for a few hours.

Treatments for dry eyes may make you more comfortable. These treatments can include lifestyle changes and eyedrops. For more-serious cases of dry eyes, surgery may be an option.

Symptoms:
 Signs and symptoms, which usually affect both eyes, may include:
  • A stinging, burning or scratchy sensation in your eyes
  • Stringy mucus in or around your eyes
  • Increased eye irritation from smoke or wind
  • Eye fatigue
  • Sensitivity to light
  • Eye redness
  • A sensation of having something in your eyes
  • Difficulty wearing contact lenses
  • Periods of excessive tearing
  • Blurred vision, often worsening at the end of the day or after focusing for a prolonged period
When to see a doctor
See your doctor if you've had prolonged signs and symptoms of dry eyes, including red, irritated, tired or painful eyes. Your doctor can take steps to determine what's bothering your eyes or refer you to a specialist.

Causes:
Dry eyes are caused by a lack of adequate tears. Your tears are a complex mixture of water, fatty oils, and mucus. This mixture helps make the surface of your eyes smooth and clear, and it helps protect your eyes from infection.

For some people, the cause of dry eyes is an imbalance in the composition of their tears. Other people don't produce enough tears to keep their eyes comfortably lubricated. Eyelid problems, medications and other causes, such as environmental factors, also can lead to dry eyes.

Poor tear quality
The tear film has three basic layers: oil, water and mucus. Problems with any of these layers can cause dry eyes symptoms.
  • Oil. The outer layer of the tear film, produced by small glands on the edge of your eyelids (meibomian glands), contains fatty oils called lipids. These smooth the tear surface and slow evaporation of the middle watery layer. If your oil glands don't produce enough oil, the watery layer evaporates too quickly, causing dry eyes. Dry eyes are common in people whose meibomian glands are clogged. Meibomian dysfunction is more common in people with inflammation along the edge of their eyelids (blepharitis), rosacea and other skin disorders.
  • Water. The middle layer is mostly water with a little bit of salt. This layer, produced by the tear glands (lacrimal glands), cleanses your eyes and washes away foreign particles or irritants. If your eye produces inadequate amounts of water, the oil and mucous layers can touch and cause a stringy discharge.
  • Mucus. The inner layer of mucus helps spread tears evenly over the surface of your eyes. If you don't have enough mucus to cover your eyes, dry spots can form on the front surface of the eye (cornea).
Decreased tear production
Dry eyes can occur when you're unable to produce enough tears. The medical term for this condition is keratoconjunctivitis sicca (ker-uh-toe-kun-junk-tih-VIE-tis SIK-uh).
You may not produce enough tears if you:
  • Are older than 50. Tear production tends to diminish as you get older. Dry eyes are common in people older than 50.
  • Are a postmenopausal woman. A lack of tears is more common among women, especially after menopause. This may be due in part to hormonal changes.
  • Have a medical condition that reduces your tear production. Dry eyes are also associated with some medical conditions such as diabetes, rheumatoid arthritis, lupus, scleroderma, Sjogren's syndrome, thyroid disorders and vitamin A deficiency.
  • Have had laser eye surgery. Refractive eye surgeries such as laser-assisted in-situ keratomileusis (LASIK) may cause decreased tear production and dry eyes. Symptoms of dry eyes related to these procedures are usually temporary.
  • Have tear gland damage. Damage to the tear glands from inflammation or radiation can hamper tear production.
Eyelid problems
Blinking spreads a continuous thin film of tears across the surface of your eyes. If you have an eyelid problem that makes it difficult to blink, tears may not be spread across your eye adequately or your tears may evaporate too quickly, causing dry eyes. Eyelid problems can include an out-turning of the lids (ectropion) or an in-turning of the lids (entropion).

Medications that cause dry eyes
Medications that can cause dry eyes include:
  • Some drugs used to treat high blood pressure
  • Antihistamines and decongestants
  • Hormone replacement therapy
  • Certain antidepressants
  • Isotretinoin-type drugs for treatment of acne
Additional causes
Other causes of dry eyes include:
  • Wind
  • Dry air
  • Tasks that require enough concentration that you blink less often, such as working at a computer, driving or reading
Complications:
Generally, dry eyes don't cause serious problems. However, possible complications include:
  • More-frequent eye infections. Your tears protect the surface of your eyes from infection. Without adequate tears, you may have an increased risk of eye infection.
  • Scarring on the surface of your eyes. If left untreated, severe dry eyes may lead to eye inflammation, scarring on the surface of your corneas and vision problems.
  • Decreased quality of life. Dry eyes can make it difficult to perform everyday activities.
Treatments and drugs:

For most people with occasional or mild dry eyes symptoms, treatment involves over-the-counter eyedrops, such as artificial tears, and other home remedies. It's best to avoid eyedrops that reduce redness, however. If your dry eyes symptoms are persistent and more serious, your treatment options will depend on what's causing your dry eyes. Some conditions that cause dry eyes can be reversed or managed. Other treatments can improve your tear quality or stop your tears from quickly draining away from your eyes.

Treating the underlying cause of dry eyes
In some cases, treating an underlying health issue can help reverse dry eyes. For instance, if a medication is causing your dry eyes, your doctor may recommend a different medication that doesn't cause that side effect.

If you have an eyelid condition, such as an anatomic abnormality or a condition that makes it difficult to close your eye completely when you blink, your doctor may refer you to an eye surgeon who specializes in plastic surgery of the eyelids (oculoplastic surgeon).
If your signs and symptoms suggest an autoimmune condition, such as rheumatoid arthritis or Sjogren's syndrome, your doctor may refer you to a rheumatologist for evaluation.

Medications
Prescriptions used to treat dry eyes include:
  • Antibiotics to reduce eyelid inflammation. If inflammation along the edge of your eyelids keeps the oil glands from secreting oil into your tears, your doctor may recommend antibiotics to reduce inflammation. Antibiotics can be administered as eyedrops or ointment, or they can be taken in pill form.
  • Prescription eyedrops to control cornea inflammation. Inflammation on the surface of your eyes may be controlled with prescription eyedrops that contain the immune-suppressing medication cyclosporine (Restasis) or that contain corticosteroids to control inflammation.
  • Prescription eye inserts that work like artificial tears. For people with moderate to severe dry eyes symptoms who can't use artificial tears, one option may be a tiny eye insert that looks like a clear grain of rice. Once a day, you place the hydroxypropyl cellulose (Lacrisert) insert between your lower eyelid and your eyeball. The insert dissolves slowly, releasing a substance that's used in eyedrops to lubricate your eye.
Treatments
Treatments that may be used include:
  • Closing your tear ducts to reduce tear loss. Your doctor may suggest treatment to keep your tears from leaving your eye too quickly. This can be done by partially or completely closing your tear ducts, which normally serve to drain tears away. Tear ducts can be plugged with tiny silicone plugs (punctal plugs) that conserve both your own tears and artificial tears you may add. Silicone plugs can be removed or left in. Or, tear ducts can be plugged with a procedure that uses heat. In a more permanent procedure called thermal cautery, your doctor numbs the area with an anesthetic and then applies a hot wire that shrinks the tissues of the drainage area and causes scarring, which closes the tear duct.
  • Covering your eyes with a special contact lens. People with severe dry eyes may opt for special contact lenses. These contact lenses help protect or shield the surface of your eyes, trapping moisture close to your eyes in order to relieve your dry eyes symptoms. Ask your eye doctor whether these special lenses, called bandage lenses or corneal shields, are an option for you.
  • Unblocking blocked oil glands. A new treatment called LipiFlo thermal pulsation helps clear blocked oil glands. During the treatment, a device that looks like an eyecup is placed over your eye. The device then delivers a gentle, warm massage to the lower eyelid. The procedure takes less than 15 minutes, and you can go home right afterward. Results usually begin within a few days. Because this is a new treatment, it may not yet be available everywhere.
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Double uterus

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Double uterus

Definition:
In a female fetus, the uterus starts out as two small tubes. As the fetus develops, the tubes normally join to create one larger, hollow organ — the uterus. Sometimes, however, the tubes don't join completely. Instead, each one develops into a separate structure. This condition is called double uterus (uterus didelphys).

Double uterus is rare — and sometimes not even diagnosed. The percentage of women with a double uterus is likely higher in women with a history of miscarriage or premature birth.
Treatment is needed only if a double uterus causes symptoms or complications, such as pelvic pain or repeated miscarriages.


Symptoms:
Some women have a double uterus and never realize it — even during pregnancy and childbirth. Each cavity in a double uterus often leads to its own cervix. Some women with a double uterus also have a duplicate or divided vagina.
Possible signs and symptoms may include:
  • Unusual pain before or during a menstrual period
  • Abnormal bleeding during a period, such as blood flow despite the use of a tampon
When to see a doctor
If you have signs and symptoms common to a double uterus, make an appointment with your doctor. Receiving an early diagnosis is especially important if you plan to become pregnant, or if you've had repeated miscarriages. Your doctor can recommend treatment options to improve your chances of getting pregnant, staying pregnant and having a safe delivery.
If you've been diagnosed with a double uterus and are considering pregnancy, talk with your doctor first. Together you can make a plan for optimal care during pregnancy and delivery.

Causes:
Researchers don't know what causes double uterus. This condition may be associated with kidney abnormalities, which suggests that something may influence the development of these related structures before birth.

Complications:
Many women with a double uterus have normal sex lives, pregnancies and deliveries. But sometimes a double uterus and other abnormalities of uterine development lead to infertility or miscarriage. A double uterus may also cause premature birth or unusual positions of the baby in the uterus, such as bottom down (breech presentation).
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Sabtu, 22 Desember 2012

DiGeorge syndrome

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DiGeorge syndrome

Definition  :
DiGeorge syndrome

DiGeorge syndrome (22q11.2 deletion syndrome), a disorder caused by a defect in chromosome 22, results in the poor development of several body systems.
Medical problems commonly associated with DiGeorge syndrome include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood and behavioral disorders.

The number and severity of problems associated with DiGeorge syndrome vary greatly. Almost everyone with DiGeorge syndrome needs treatment from specialists in a variety of fields.
Before the discovery of the chromosome 22 defect, the disorder was known by several names — DiGeorge syndrome, velocardiofacial syndrome and others. Although the term "22q11.2 deletion syndrome" is frequently used today — and is generally a more accurate description — previous names for the disorder are still used.

Symptoms:

Signs and symptoms of DiGeorge syndrome can vary significantly in type and severity. This variation depends on what body systems are affected and how severe the defects are. Some signs and symptoms may be apparent at birth, but others may not appear until later in infancy or early childhood.
Signs and symptoms may include some combination of the following:
  • Bluish skin due to poor circulation of oxygen-rich blood (cyanosis)
  • Weakness or tiring easily
  • Failure to thrive
  • Failure to gain weight
  • Poor muscle tone
  • Shortness of breath
  • Twitching or spasms around the mouth, hands, arms or throat (tetany)
  • Frequent infections
  • Difficulty feeding
  • Delayed development, such as delays in rolling over, sitting up or other infant milestones
  • Delayed speech development
  • Learning delays or difficulties
  • A gap in the roof of the mouth (cleft palate) or other problems with the palate
  • Certain facial features, such as low-set ears, wide-set eyes or a narrow groove in the upper lip
When to see a doctor
Other conditions may cause the signs and symptoms of DiGeorge syndrome. So it's important to get an accurate and prompt diagnosis if your child exhibits any signs or symptoms of the disorder.
If your child has any of the following signs and symptoms, seek immediate medical care:
  • Bluish skin
  • Twitching or spasms around the mouth, hands, arms or throat
  • Seizures
Causes:

DiGeorge syndrome is caused by the deletion of a portion of chromosome 22. Each person has two copies of chromosome 22, one inherited from each parent. This chromosome contains an estimated 500 to 800 genes.

If a person has DiGeorge syndrome, one copy of chromosome 22 is missing a segment that includes an estimated 30 to 40 genes. Many of these genes haven't been clearly identified and aren't well understood. The region of chromosome 22 that's deleted in DiGeorge syndrome is known as 22q11.2. A small number of people with DiGeorge syndrome have a shorter deletion in the same region of chromosome 22.

The deletion of genes from chromosome 22 usually occurs randomly in the father's sperm or in the mother's egg, or it may occur very early during fetal development. Therefore, the deletion is repeated in all or nearly all of the cells in the body as the fetus develops.

Complications:

The portions of chromosome 22 deleted in DiGeorge syndrome play a role in the development of a number of body systems. As a result, the disorder can cause several errors during fetal development. Common problems that occur with DiGeorge syndrome include:
  • Heart defects. DiGeorge syndrome often causes heart defects that result in an insufficient supply of oxygen-rich blood for the body. These defects may include a hole between the lower chambers of the heart (ventricular septal defect); only one large vessel, rather than two vessels, leading out of the heart (truncus arteriosus); and a combination of four abnormal heart structures (tetralogy of Fallot).
  • Hypoparathyroidism. The four parathyroid glands are oval, grain-of-rice-sized glands located in your neck. These glands maintain proper levels of calcium and phosphorus in your body by turning off or on the secretion of parathyroid hormone (PTH). DiGeorge syndrome can result in smaller than normal parathyroid glands that secrete too little PTH (hypoparathyroidism). Hypoparathyroidism results in low levels of calcium and high levels of phosphorus in the blood
    .
  • Thymus gland dysfunction. The thymus gland in children, located beneath the breastbone, is where T cells — a type of white blood cell — mature. Mature T cells are needed to help fight infections. As you grow older, the thymus decreases in size, and other parts of your body take over the role of the thymus in the immune system. In children with DiGeorge syndrome, the thymus gland may be small or missing, resulting in poor immune function and frequent, severe infections.
  • Cleft palate. A common condition of DiGeorge syndrome is a cleft palate — an opening (cleft) in the roof of the mouth (palate). Other, less visible abnormalities of the palate that may also be present can make it difficult to swallow or produce certain sounds in speech.
  • Facial features. A number of particular facial features may be present in some people with DiGeorge syndrome. These may include small, low-set ears, wide-set eyes, hooded eyes, a relatively long face or a short or flattened groove in the upper lip.
  • Learning, behavioral and mental health problems. The 22q11.2 deletion may cause problems with the development and function of the brain, resulting in learning, social, developmental or behavioral problems. Delays in toddler speech development and learning difficulties are common. A number of children with DiGeorge syndrome develop disorders, such as attention-deficit/hyperactivity disorder (ADHD), autism or autism-related disorders. Later in life people with DiGeorge syndrome are at increased risk of mental health problems, including depression, anxiety disorders, schizophrenia and other psychiatric disorders.
  • Autoimmune disorders. People who had poor immune function as children, due to a small or missing thymus, may have an increased risk of autoimmune disorders, such as rheumatoid arthritis and Graves' disease.
  • Other problems. A large number of medical conditions may be associated with DiGeorge syndrome. These include hearing impairment, poor vision, poor kidney function and relatively short stature for one's family.
Treatments and drugs :
There is no cure for DiGeorge syndrome. Treatments can usually correct critical problems, such as a heart defect or low calcium levels. Care for developmental, mental health or behavioral problems are more challenging, and the outcomes are less predictable.
Treatments and therapy for a person with DiGeorge syndrome may include interventions for the following conditions:
  • Hypoparathyroidism. Hypoparathyroidism can usually be managed with calcium supplements, vitamin D supplements and a low phosphorus diet. If enough of the parathyroid tissue is intact, it's possible your child's parathyroid glands will eventually regulate calcium and phosphorus levels without a specialized diet.
  • Limited thymus gland function. If your child has some thymic function, infections may be frequent, but not necessarily severe. These infections — usually frequent colds and ear infections — are generally treated as they would be in any child. Most children with limited thymic function follow the normal schedule of vaccines. For most children with moderate thymus impairment, immune system function will improve as they grow older.
  • Severe thymus dysfunction. If the impairment of the thymus is severe or there's no thymus, your child is vulnerable to a number of severe infections. Treatment requires a transplant of thymus tissue, specialized cells from bone marrow or specialized disease-fighting blood cells.
  • Cleft palate. A cleft palate or other abnormalities of the palate can usually be surgically repaired.
  • Heart defects. Most heart defects associated with DiGeorge syndrome require surgery to repair the heart and correct blood circulation.
  • Overall development. Your child will likely benefit from a range of therapies, including speech therapy to improve verbal skills and articulation, occupational therapy to learn everyday skills and developmental therapy to learn age-appropriate behaviors, social skills and interpersonal skills. In the United States, early intervention programs providing these types of therapy are usually available through a state's health department.
  • Mental health care. Psychotherapy and psychiatric medications may be recommended if your child is later diagnosed with attention-deficit/hyperactivity disorder (ADHD), depression, schizophrenia, or other mental health or behavioral disorders.


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