QUOTE FOR MONDAY:

“Gout is a condition caused by accumulation of excess of uric acid in the bloodstream which deposits unwanted http://www.striveforgoodhealth.com/wp-admin/post-new.php#edit_timestampsalts (urates) in the joints of the body. Gout can damage the hearing capacity of the ears and in severe cases can affect the kidney functions.”

skeletalbonedisorders.com

Part I What is Gout. Understanding the disease, its symptoms, and how uric acid is removed normally by the body.

Gout is characterized by sudden, severe attacks of pain, redness and tenderness in joints, often the joint at the base of the big toe.

Gout — a complex form of arthritis — can affect anyone. Men are more likely to get gout, but women become increasingly susceptible to gout after menopause.

An attack of gout can occur suddenly, often waking you up in the middle of the night with the sensation that your big toe is on fire. The affected joint is hot, swollen and so tender that even the weight of the sheet on it may seem intolerable.

Fortunately, gout is treatable, and there are ways to reduce the risk that gout will recur.

The signs and symptoms of gout almost always occur suddenly — often at night — and without warning. They include:

  • Intense joint pain. Gout usually affects the large joint of your big toe, but it can occur in your feet, ankles, knees, hands and wrists. The pain is likely to be most severe within the first four to 12 hours after it begins.
  • Lingering discomfort. After the most severe pain subsides, some joint discomfort may last from a few days to a few weeks. Later attacks are likely to last longer and affect more joints.
  • Inflammation and redness. The affected joint or joints become swollen, tender, warm and red.
  • Limited range of motion. Decreased joint mobility may occur as gout progresses.

Gout occurs when urate crystals accumulate in your joint, causing the inflammation and intense pain of a gout attack. Urate crystals can form when you have high levels of uric acid in your blood.

Your body produces uric acid when it breaks down purines — substances that are found naturally in your body, as well as in certain foods, such as steak, organ meats and seafood. Other foods also promote higher levels of uric acid, such as alcoholic beverages, especially beer, and drinks sweetened with fruit sugar (fructose).

 Normally, uric acid dissolves in your blood and passes through your kidneys into your urine. But sometimes your body either produces too much uric acid or your kidneys excrete too little uric acid. When this happens, uric acid can build up, forming sharp, needle-like urate crystals in a joint or surrounding tissue that cause pain, inflammation and swelling.
Stay tune for Part II tomorrow!

QUOTE FOR THE WEEKEND:

“Encephalocele a rare type of birth defect of the neural tube that affects the brain. The neural tube is a narrow channel that folds and closes during the third and fourth weeks of pregnancy to form the brain and spinal cord. Encephalocele is a sac-like protrusion or projection of the brain and the membranes that cover it through an opening in the skull. Encephalocele happens when the neural tube does not close completely during pregnancy. The result is an opening anywhere along the center of the skull from the nose to the back of the neck, but most often at the back of the head (pictured), at the top of the head, or between the forehead and the nose.  Allowing it to sac out of the skull.”

Centers for Disease Control and Prevention CDC

 

Encephalocele

Image result for encephalocele

What is Encephalocele?

openings in the brain that will allow sac like protrusions causing:

  

Facts on Encephalocele:

Encephalocele is a rare type of birth defect of the neural tube that affects the brain. The neural tube is a narrow channel that folds and closes during the third and fourth weeks of pregnancy to form the brain and spinal cord. Encephalocele is a sac-like protrusion or projection of the brain and the membranes that cover it through an opening in the skull. Encephalocele happens when the neural tube does not close completely during pregnancy. The result is an opening anywhere along the center of the skull from the nose to the back of the neck, but most often at the back of the head (pictured), at the top of the head, or between the forehead and the nose.

Occurrence

CDC estimates that approximately 1 in 12,200 babies born in the United States each year will have encephalocele. This means that about 340 U.S. babies are born with this condition each year.1

Causes

Although the exact cause of encephalocele is unknown, scientists believe that many factors are involved.

There is a genetic (inherited) component to the condition, meaning it often occurs in families that have family members with other defects of the neural tube: spina bifida and anencephaly. Some researchers also believe that certain environmental exposures before or during pregnancy might be causes, but more research is needed. CDC works with many other researchers to study factors that can

  • Increase the risk of having a baby with encephalocele, or
  • Impact the health outcomes of babies with encephalocele.

The following is an example of what CDC researchers have found:

  • Several factors appear to lead to lower survival rates for infants with encephalocele, including preterm (early) birth, low birthweight, having multiple birth defects, or being black or African American.2,3

CDC continues to study birth defects, such as encephalocele, and how to prevent them. For example, taking 400 micrograms of the B vitamin, folic acid, every day before and during early pregnancy can help prevent some major birth defects of the baby’s brain and spine, such as encephalocele. If you are pregnant or thinking about becoming pregnant, talk with your doctor about ways to increase your chances of having a healthy baby.

Diagnosis

Usually encephaloceles are found right after birth, but sometimes a small encephalocele in the nose and forehead region can go undetected. An encephalocele at the back of the skull is more likely to cause nervous system problems, as well as other brain and face defects. Signs of encephalocele can include

  • Buildup of too much fluid in the brain,
  • Complete loss of strength in the arms and legs,
  • An unusually small head,
  • Uncoordinated use of muscles needed for movement, such as those involved in walking and reaching,
  • Developmental delay,
  • Intellectual disability,
  • Vision problems,
  • Delayed growth, and
  • Seizures.

Treatment

Encephalocele is treated with surgery to place the protruding part of the brain and the membranes covering it back into the skull and close the opening in the skull. However, neurologic problems caused by the encephalocele will still be present. Long-term treatment depends on the child’s condition. Multiple surgeries may be needed, depending on the location of the encephalocele and the parts of the head and face that were affected by the encephalocele.

Resources for Families and Individuals Affected by Encephalocele

National Institute of Neurological Disorders and Stroke

National Organization for Rare Disorders

References

  1. Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Anderson P, Mason CA, Collins JS, Kirby RS, Correa A. Updated national birth prevalence estimates for selected birth defects in the United States, 2004–2006. Birth Defects Res A Clin Mol Teratol. 2010 Dec 1;88(12):1008-16.
  2. Wang Y, Liu G, Canfield MA, Mai CT, Gilboa SM, Meyer RE, Anderka M, Copeland
    GE, Kucik JE, Nembhard WN, Kirby RS; National Birth Defects Prevention Network. Racial/ethnic differences in survival of United States children with birth defects: a population-based study. J Pediatr. 2015 Apr;166(4):819-26.e1-2.
  3. Siffel C, Wong LC, Olney RS, Correa A. Survival of infants diagnosed with encephalocele in Atlanta, 1978-98. Paediatr Perinat Epidemiol. 2003;17:40-8.

QUOTE FOR FRIDAY:

“Spina bifida is a birth defect that occurs when the spine and spinal cord don’t form properly. It falls under the broader category of neural tube defects. The neural tube is the embryonic structure that eventually develops into the baby’s brain and spinal cord and the tissues that enclose them.”

Mayo Clinic

Spina Bifida

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                      spina4

Spina Bifida is the most common permanently disabling birth defect in the United States.

Spina Bifida literally means “split spine.”

Spina Bifida happens when a baby is in the womb and the spinal column does not close all of the way. Every day, about 8 babies born in the United States have Spina Bifida or a similar birth defect of the brain and spine.

No one knows for sure the exact cause of spina bifida but have their ideas. Scientists believe that genetic and environmental factors act together to cause the condition.

Although doctors and researchers don’t know for sure why spina bifida occurs, they have identified a few risk factors:

  • Race. Spina bifida is more common among whites and Hispanics.
  • Sex. Girls are affected more often.
  • Family history of neural tube defects. Couples who’ve had one child with a neural tube defect have a slightly higher chance of having another baby with the same defect. That risk increases if two previous children have been affected by the condition.
  • In addition, a woman who was born with a neural tube defect, or who has a close relative with one, has a greater chance of giving birth to a child with spina bifida. However, most babies with spina bifida are born to parents with no known family history of the condition.
  • Folate deficiency. Folate (vitamin B-9) is important to the healthy development of a baby. Folate is the natural form of vitamin B-9. The synthetic form, found in supplements and fortified foods, is called folic acid. A folate deficiency increases the risk of spina bifida and other neural tube defects.
  • Some medications. Anti-seizure medications, such as valproic acid (Depakene), seem to cause neural tube defects when taken during pregnancy, perhaps because they interfere with the body’s ability to use folate and folic acid.
  • Diabetes. Women with diabetes who don’t control their blood sugar well have a higher risk of having a baby with spina bifida.
  • Obesity. Pre-pregnancy obesity is associated with an increased risk of neural tube birth defects, including spina bifida.
  • Increased body temperature. Some evidence suggests that increased body temperature (hyperthermia) in the early weeks of pregnancy may increase the risk of spina bifida. Elevating your core body temperature, due to fever or the use of saunas or hot tubs, has been associated with increased risk of spina bifida.
  • If you have known risk factors for spina bifida, talk with your doctor to determine if you need a larger dose or prescription dose of folic acid, even before a pregnancy begins.

There are different types of Spina Bifida:

Occult Spinal Dysraphism (OSD) Infants with this have a dimple in their lower back. Because most babies with dimples do not have OSD, a doctor has to check using special tools and tests to be sure. Other signs are red marks, hyperpigmented patches on the back, tufts of hair or small lumps. In OSD, the spinal cord may not grow the right way and can cause serious problems as a child grows up. Infants who might have OSD should be seen by a doctor, who will recommend tests.

Spina Bifida Occulta It is often called “hidden Spina Bifida” because about 15 % of healthy people have it and do not know it. Spina Bifida Occulta usually does not cause harm, and has no visible signs. The spinal cord and nerves are usually fine.                                                                                                Visible indications of spina bifida occulta can sometimes be seen on the newborn’s skin above the spinal defect, including:

  • An abnormal tuft of hair
  • A collection of fat
  • A small dimple or birthmarkMeningocele A meningocele causes part of the spinal cord to come through the spine like a sac that is pushed out. Nerve fluid is in the sac, and there is usually no nerve damage. Individuals with this condition may have minor disabilities.
  • Many people who have spina bifida occulta don’t even know it, unless the condition is discovered during an X-ray or other imaging test done for unrelated reasons. People find out they have it after having an X-ray of their back. It is considered an incidental finding because the X-Ray is normally done for other reasons. However, in a small group of people with SBO, pain and neurological symptoms may occur. Tethered cord can be an insidious complication that requires investigation by a neurosurgeon.

Myelomeningocele (Meningomyelocele), also called Spina Bifida Cystica This is the most severe form of Spina Bifida. It happens when parts of the spinal cord and nerves        come through the open part of the spine. It causes nerve damage and other disabilities.    70 to 90% of children with this condition also have too much fluid on their brains. This happens because fluid that protects the brain and spinal cord is unable to drain like it should. The fluid builds up, causing pressure and swelling. Without treatment, a person’s head grows too big, and may have brain damage. Children who do not have Spina Bifida can also have this problem, so parents need to check with a doctor. Usually, however, tissues and nerves are exposed, making the baby prone to life-threatening infections.

Neurological impairment is common, including:

  • Muscle weakness of the legs, sometimes involving paralysis
  • Bowel and bladder problems
  • Seizures, especially if the child requires a shunt
  • Orthopedic problems — such as deformed feet, uneven hips and a curved spine (scoliosis)Treatment for spina bifida depends on the severity of the condition.
  • Spina Bifida Treatment
  1. Most people with spina bifida occulta require no treatment at all.
  2. Children with meningocele typically require surgical removal of the cyst and survive with little, if any, disability.
  3. Children with myelomeningocele, however, require complex and often lifelong treatment and assistance. Almost all of them survive with appropriate treatment starting soon after birth. Their quality of life depends at least partially on the speed, efficiency, and comprehensiveness with which that treatment is provided.
  4. A child born with myelomeningocele requires specialty care.
  1. The child should be transferred immediately to a center where newborn surgery can be performed.
  2. Treatment with antibiotics is started as soon as the myelomeningocele is recognized; this prevents infection of the spinal cord, which can be fatal.

The operation involves closing the opening in the spinal cord and covering the cord with muscles and skin taken from either side of the back. The most common complications are tethered spinal cord and hydrocephalus, which can have very severe consequences.

QUOTE FOR THURSDAY:

“If you don’t have symptoms, you might not need treatment. However, if the disease is active — indicated by an elevated alkaline phosphatase level — and is affecting high-risk sites in your body, such as your skull or spine, your doctor might recommend treatment to prevent complications, even if you don’t have symptoms.”

Mayo Clinic

 

Part II Skeletal Diseases – Paget’s Disease

Paget’s disease may lead to other medical conditions, including:

  • Arthritis. Long bones in the leg may bow, distorting alignment and increasing pressure on nearby joints. In addition, pagetic bone may enlarge, causing joint surfaces to undergo excessive wear and tear. In these cases, pain may be caused by a combination of Paget’s disease and osteoarthritis.
  • Hearing loss. Loss of hearing in one or both ears may occur when Paget’s disease affects the skull and the bone that surrounds the inner ear. Treating Paget’s disease may slow or stop hearing loss. Hearing aids also may help.
  • Heart disease. In severe Paget’s disease, the heart works harder to pump blood to affected bones. This usually does not result in heart failure except in some people who also have hardening of the arteries.
  • Kidney stones. Kidney stones are more common in patients with Paget’s disease.
  • Nervous system problems. Pagetic bone can cause pressure on the brain, spinal cord, or nerves and reduced blood flow to the brain and spinal cord.
  • Sarcoma. Rarely, Paget’s disease is associated with the development of a malignant tumor of the bone. When there is a sudden onset or worsening of pain, sarcoma should be considered.
  • Loose teeth. When Paget’s disease affects the facial bones, the teeth may loosen. This may make chewing more difficult.
  • Vision loss. Rarely, when the skull is involved, the nerves to the eye may be affected, causing some loss of vision.

Paget’s disease is not associated with osteoporosis. Although Paget’s disease and osteoporosis can occur in the same patient, they are completely different disorders. Despite their marked differences, several medications for Paget’s disease also are used to treat osteoporosis.

Who is the best in treating this condition?

The following types of medical specialists are generally knowledgeable about treating Paget’s disease:

  • Endocrinologists. Doctors who specialize in hormonal and metabolic disorders
  • Rheumatologists. Doctors who specialize in joint and muscle disorders
  • Others. Orthopaedic surgeons, neurologists, and otolaryngologists (doctors who specialize in ear, nose, and throat disorders) may be called on to evaluate specialized symptoms.

How Paget’s is treated:

Drug therapy: The Food and Drug Administration has approved several medications to treat Paget’s disease. The medications work by controlling the excessive breakdown and formation of bone that occurs in the disease. The goal of treatment is to relieve bone pain and prevent progression of the disease. People with Paget’s disease should talk to their doctors about which medication is right for them. It is also important to get adequate calcium and vitamin D through diet and supplements as prescribed by your doctor, except for patients who have had kidney stones.

Bisphosphonates are a class of drugs used to treat a variety of bone diseases. Several bisphosphonates are currently available to treat Paget’s disease. Calcitonin is a naturally occurring hormone made by the thyroid gland. The medication may be appropriate for some patients.

Surgery: Medical therapy before surgery helps decrease bleeding and other complications. Patients who are having surgery should discuss pretreatment with their doctor. Surgery may be advised for three major complications of Paget’s disease:

  • Fractures. Surgery may allow fractures to heal in better position.
  • Severe degenerative arthritis. Hip or knee replacement may be considered if disability is severe and medication and physical therapy are no longer helpful.
  • Bone deformity. Cutting and realigning pagetic bone (a procedure called an osteotomy) may reduce the pain in weight-bearing joints, especially the knees.

Complications resulting from enlargement of the skull or spine may injure the nervous system. However, most neurological symptoms, even those that are moderately severe, can be treated with medication and do not require neurosurgery.

Diet and exercise: There is no special diet to prevent or help treat Paget’s disease. However, according to the Institute of Medicine of the National Academy of Sciences, women age 50 and older and men age 70 and older should get 1,200 mg of calcium and at least 600 IU (International Units) of vitamin D every day to maintain a healthy skeleton. People age 70 and older need to increase their vitamin D intake to 800 IU. People with a history of kidney stones should discuss calcium and vitamin D intake with their doctor.

Exercise is important because it helps preserve skeletal health, prevent weight gain, and maintain joint mobility. Patients should discuss any new exercise program with their doctor before beginning, to avoid any undue stress on affected bones.

 

QUOTE FOR WEDNESDAY:

Fast Facts:

1-Paget’s disease typically occurs in an older population.  2-Signs of Paget’s disease of bone include: pain associated with bones and joints, headaches, hearing loss, enlargement or bowing of bones, tingling or numbness. 3- A physician needs to evaluate the condition to make sure there are no related problems. 4-Effective and safe treatment methods can help most people with Paget’s disease.

AMERICAN COLLEGE OF RHEUMATOLOGY

Skeletal Disorders: Paget’s Disease

Paget’s disease is a chronic disorder that can result in enlarged and misshapen bones. The excessive breakdown and formation of bone tissue causes affected bone to weaken—resulting in bone pain, misshapen bones, fractures, and arthritis in the joints near the affected bones. Paget’s disease typically is localized, affecting just one or a few bones, as opposed to osteoporosis, for example, which affects all the bones in the body.

Scientists do not know for sure what causes Paget’s disease. In some cases, the disease runs in families, and so far two genes have been identified that predispose affected people to develop Paget’s disease. In most cases, however, scientists suspect that environmental factors play a role. For example, scientists are studying the possibility that a slow-acting virus may cause Paget’s disease.

The disease is more common in older people and those of northern European heritage. Research suggests that a close relative of someone with Paget’s disease is seven times more likely to develop the disease than someone without an affected relative.

Many patients do not know they have Paget’s disease because they have no symptoms. Sometimes the symptoms may be confused with those of arthritis or other disorders. In other cases, the diagnosis is made only after the patient has developed complications.

Symptoms could include since for many its painless:

  • pain, which can occur in any bone affected by the disease or result from arthritis, a complication that develops in some patients
  • headaches and hearing loss, which may occur when Paget’s disease affects the skull
  • pressure on nerves, which may occur when Paget’s disease affects the skull or spine
  • increased head size, bowing of a limb, or curvature of the spine, which may occur in advanced cases
  • hip pain, which may occur when Paget’s disease affects the pelvis or thighbone.
  • damage to cartilage of joints, which may lead to arthritis.

How you know you have it:

Paget’s disease is almost always diagnosed using x rays but may be discovered initially by either of the following tests:

  • Alkaline phosphatase blood test. An elevated level of alkaline phosphatase in the blood can be suggestive of Paget’s disease.
  • Bone scans. Bone scans are useful in determining the extent and activity of the condition.

If a blood test or bone scan suggests Paget’s disease, the affected bone(s) should be x rayed to confirm the diagnosis.

Early diagnosis and treatment are important to minimize complications. Siblings and children of people with Paget’s disease may wish to have an alkaline phosphatase blood test every 2 or 3 years starting around the age of 40. If the alkaline phosphatase level is higher than normal, a bone scan may be used to identify which bone or bones are affected and an x ray of these bones is used to verify the diagnosis of Paget’s disease.

The outlook for people diagnosed with Paget’s disease is generally good, particularly if treatment is given before major changes have occurred in the affected bones. Treatment can reduce symptoms but is not a cure. Osteogenic sarcoma, a form of bone cancer, is an extremely rare complication that occurs in less than 1 percent of all patients with Paget’s disease.

Stayed tune for Part II tomorrow!