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Cushing’s Syndrome

April 16, 2012

W. Hedges

The endocrine system consists of glands that produce hormones that regulate processes throughout the body. In order for body processes to coincide seamlessly, the endocrine system has to release hormones in the correct dosages. Too much or too little of a hormone may cause serious complications. Cushing’s syndrome results from excess levels of the hormone cortisol in the body. The excess level of cortisol is caused from an adrenal cortex hyperfunction.

Many people develop Cushing’s syndrome because their bodies produce too much cortisol. Typically, production of cortisol occurs in a specific chain of events beginning in the hypothalamus. The hypothalamus sends corticotropin-releasing hormone (CRH) to the pituitary gland. CRH then causes the pituitary gland to secrete adrenocorticotropin hormone (ACTH), which stimulates the adrenal glands located just above the kidneys. When the adrenals receive the ACTH they respond by releasing cortisol into the bloodstream. Cushing’s disease is a form of Cushing’s syndrome which is also called pituitary Cushing’s.

There are four origins of Cushing’s syndrome:

  • ACTH-producing tumor of the pituitary gland over-stimulates the adrenal cortex (Cushing’s Disease)
  • Corticosteroid-hormone producing tumor of the adrenal cortex (Cushing’s Syndrome)
  • Administration of excess corticosteroids (Cushing’s Syndrome)
  • Malignant tumor in another organ that produces ACTH or similar acting hormone (Cushing’s Syndrome)

Pituitary adenomas cause 70 percent of Cushing’s syndrome cases when excluding those caused by glucocorticoid use. These are benign tumors of the pituitary gland that secrete a surplus of ACTH. This type of Cushing’s syndrome happens to affect women five times more than men. This form of the syndrome is known as Cushing’s disease.

Adrenal tumors or abnormalities of the adrenal glands can also cause Cushing’s syndrome. This is the least common cause of Cushing’s syndrome and happens to occur in women four to five times more often than men. The cancer cells secrete excess levels of several adrenocortical hormones, including cortisol and adrenal androgens. These carcinomas usually cause very high hormone levels and rapid development of symptoms.

Many people develop Cushing’s syndrome because they take glucocorticoids-steroid hormones (chemically similar to naturally produced cortisol).  This may be prednisone for asthma, rheumatoid arthritis, lupus, or another inflammatory disease. Glucocorticoids are also used to suppress the immune system after transplantation to keep the body from rejecting a new organ or tissue.

Cancerous tumors (some benign) that arise outside the pituitary gland can produce ACTH. This is known as ectopic ACTH syndrome and affects men three times more than women. The most common forms of ACTH-producing tumors are small cell lung cancer and carcinoid tumors which are small, slow-growing, tumors that come from hormone-producing cells in various parts of the body.

The correct amount of cortisol in the body is vital. Cortisol plays a key role in blood pressure and cardiovascular function, reducing the immune system’s inflammatory response, balancing the effects of insulin, and regulating the metabolism of proteins, carbohydrates, and fats. This is why an imbalance in cortisol causes many signs and symptoms.

Most people with this disorder have upper body obesity, a rounded face (moon face), increased fat around the neck, and children tend to be obese with slowed growth rates. Other signs are more apparent in the skin, which tends to become fragile and thin. The skin bruises easily and heals poorly. Some individuals with Cushing’s syndrome tend to have stretch marks appear on the abdomen, thighs, buttocks, arms, and breasts. Women with this syndrome usually have excess hair growth on their face, neck, chest, abdomen, and thighs. Menstrual periods also may become irregular or completely stop. Men may have decreased fertility with diminished libido, and sometimes, erectile dysfunction.

Other common signs and symptoms consist of:

  • Severe fatigue
  • Weak muscles
  • High blood pressure (due to excessive secretion of mineralcorticoids)
  • High blood glucose (due to excessive secretion of glucorticoids)
  • Increased thirst and urination
  • Irritability, anxiety, or depression
  • A fatty hump between the shoulders

There are simple tests that can be performed to concur the suspicion of Cushing’s syndrome. Tests are done to confirm there is too much cortisol in the body, then to determine the cause.

The tests to determine too much cortisol include:

  • 24-hour urine cortisol
  • Dexamethasone suppression test (low dose)

The tests to determine the cause include:

  • Blood ACTH level
  • Brain MRI
  • Corticotropin-releasing hormone test (acts on pituitary gland to cause release of ACTH)
  • Dexamethasone suppression test (high dose)
  • Petrosal sinus sampling (measures ACTH levels in the veins that drain pituitary gland)

In the 24-hour urine cortisol test a person’s urine is collected several times over a 24-hour period and tested for cortisol. If levels exceed 50 to 100 micrograms a day (for an adult) it is thought to be Cushing’s syndrome. Normal limits may vary with the laboratories depending on measurement technique used.

In the low-dose dexamethasone suppression test, a person is given a low dose of dexamethasone, which is a synthetic glucocorticoid, by mouth every six hours for two days. Urine is collected before the test, as well as several times on each day of the test. Cortisol and other glucocorticoids signal the pituitary to release less ACTH, so a normal response after taking the dexamethasone is a drop in blood and urine cortisol levels. If a drop in cortisol levels is not seen, Cushing’s syndrome is suspected.

Once Cushing’s syndrome is suspected because cortisol levels have proven to be high in the body, tests to find the cause of Cushing’s syndrome are done. To perform the blood ACTH level test, a blood sample is needed. The main function of ACTH is to regulate the steroid hormone cortisol, which is released by the adrenal cortex. Higher than normal levels of ACTH may be present with Cushing’s disease when the pituitary makes too much ACTH. This could be because of excess growth of the pituitary, or tumors of the pituitary or elsewhere in the body.

A brain MRI produces images that reveal the size and shape of the pituitary and adrenal glands. These images help determine if a tumor is present. Imaging procedures are used to find a tumor after a diagnosis has been made; this is because benign tumors are commonly found in pituitary and adrenal glands. These tumors do not usually produce hormones in quantities that are harmful, and are not removed unless they are unusually large or blood tests show they are a cause of symptoms. Pituitary tumors may not be detectable by imaging in almost half of the people who ultimately need pituitary surgery for Cushing’s syndrome.

The corticotropin-releasing hormone (CRH) test helps separate people with pituitary adenomas from those with ectopic ACTH syndrome or adrenal tumors. Individuals receive a CRH injection and people with pituitary adenomas usually experience a rise in blood levels of ACTH and cortisol because CRH acts directly on the pituitary gland. This response is rarely seen in individuals with ectopic ACTH syndrome and almost never in those with adrenal tumors.

The high-dose dexamethasone suppression test is the same as the low-dose dexamethasone suppression test, except it uses higher doses of dexamethasone. This helps separate people with excess production of ACTH due to pituitary adenomas from those with ectopic ACTH-producing tumors. High doses of dexamethasone usually suppress cortisol levels in people with pituitary adenomas, but not in those with ectopic ACTH-producing tumors.

Petrosal sinus sampling is a test that is not always required, but in many cases, is the best way to distinguish pituitary from ectopic causes of Cushing’s syndrome. Samples of blood are drawn from the petrosal sinus veins that drain the pituitary. Tubes are inserted through a vein in the upper thigh region. Patients are given a local anesthetic and mild sedation, and x-rays are taken to confirm correct positioning of the tubes. Usually CRH is given to improve diagnostic accuracy. The ACTH level in the petrosal sinuses are measured and compared with ACTH levels in a forearm vein. Higher levels of ACTH in the sinuses than in the forearm vein indicate a pituitary adenoma. Similar levels in the sinuses and the forearm suggest ectopic ACTH syndrome.

Once it is certain that an individual has Cushing’s disease, treatment can begin. Treatment depends on the specific reason for excess cortisol and may include surgery, radiation, chemotherapy, or the use of cortisol-inhibiting drugs. If the cause of the excess cortisol is because of long-term use of glucocorticoid hormones to treat another disorder, the doctor will gradually reduce the dosage to the lowest dose adequate for control of that disorder.

Several therapies are available to treat the ACTH-secreting pituitary adenomas of Cushing’s disease. Surgical removal of the tumor is the most widely used treatment. Surgeons use a special microscope and fine instruments to get to the pituitary gland through a nostril or an opening made below the upper lip. The success rate of this procedure is more than 80 percent. Sometimes surgery fails or is only a temporary cure, in that case, surgery can be repeated and often has good results. After surgery, ACTH production drops to levels below normal. This is a natural and temporary drop and patients are given a synthetic form of cortisol. Most people only have to take the synthetic form of cortisol for less than two years, but some need it for life.

If the surgery fails, or the patient is not a candidate, radiation therapy is another possibility. Pituitary radiation is given over a six week period, with improvement occurring in 40-50 percent of adults and up to 85 percent of children. It may take several months or years before people feel better from radiation treatment alone, so combining radiation with cortisol-inhibiting drugs can help speed recovery.

Drugs can be used alone or in combination to control the excess production of cortisol. Some medications are ketoconazole (effective for long term control of hypercortisolism of either pituitary or adrenal origin), mitotane (used to treat cancer of the adrenal gland that can not be treated with surgery), aminoglutethimide (used to stop the adrenal gland from making too much cortisol), and metyrapone (used to stabilize Cushing’s syndrome patients prior to surgery). Each of the medications has a set of side effects that the doctor will consider when prescribing medical therapy for individual patients.

With ectopic ACTH syndrome, all of the cancerous tissue that is secreting ACTH must be eliminated. Individuals may undergo cancer treatment surgery, radiation, chemotherapy, immunotherapy, or a combination of these treatments. The type of treatment depends on the type of cancer and how far it has spread. The tumors may be small or widespread, making them difficult to locate and treat directly, this in turn makes cortisol-inhibiting drugs an important part of treatment. If other treatments fail, surgical removal of the adrenal glands may replace drug therapy in some cases.

If the cause is a tumor of the adrenal gland, surgery is the common treatment weather the tumor is benign or cancerous.

If Cushing’s syndrome is left untreated, severe illness and even death can occur. The treatments can lead to full recovery, but tumors may grow back.

Cushing’s syndrome has been estimated at 13 cases per million individuals. Of these cases, about 70 percent are due to a pituitary ACTH producing tumor, 15 percent to ectopic ACTH, and 15 percent to a primary adrenal tumor. Mortality rates associated with Cushing’s syndrome are related primarily to the effects of the excess glucocorticoids. Rare adrenocortical carcinomas are associated with a five year survival rate of 30 percent or less.

Several components of the National Institutes of Health (NIH) conduct and support research on Cushing’s syndrome. NIH supported scientists are conducting intensive research into the normal and abnormal function of the major endocrine glands and the many hormones of the endocrine system. Researchers continue to study the effects of excess cortisol, including its effects on brain structure and function. Studies are underway to assess the accuracy of existing screening tests and the effectiveness of new imaging techniques to evaluate patients with ectopic ACTH syndrome. Researchers are investigating less invasive alternates to the petrosal sinus sampling. New drugs are also being studied to treat the symptoms of Cushing’s syndrome.

Studies are underway to understand the causes of benign endocrine tumor formation, those that cause most cases of Cushing’s syndrome. In some pituitary tumors, specific gene defects have been identified and may provide important clues to understand tumor formation. Understanding the basis of Cushing’s syndrome will yield new approaches to therapy.

The NIH supports research related to Cushing’s syndrome at medical centers throughout the United States. Scientists are also treating patients with Cushing’s syndrome at the NIH Clinical Center in Bethesda, MD.

Individuals can contact the Bethesda, MD National Endocrine and Metabolic Diseases Information Service by phone at 1-888-828-0904 or email endoandmeta@info.niddk.nih.gov .

 

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001388/

http://www.mayoclinic.com/health/cushings-syndrome/DS00470

http://www.nlm.nih.gov/medlineplus/ency/article/000410.htm

http://endocrine.niddk.nih.gov/pubs/cushings/cushings.aspx

http://www.medicinenet.com/cushings_syndrome/article.htm

Parkinson’s Disease

April 15, 2012

Parkinson’s disease

SWoitaszewski

From pill-rolling tremors to difficulty walking Parkinson’s disease affects every person differently. Parkinson’s disease is a neurological system that is often noticed first by friends and family. Parkinson’s is classified as a neurodegenerative disease due to its mechanism of action. The disease was first described by an English physician, James Parkinson in 1817 and later described the French neurologist Charcot in the late 1800s. Many people know who Michael J Fox is and it has become public knowledge that the famous actor suffered from the disease. Also Muhammad Ali also suffered from Parkinson’s disease and had to retire from a legendary boxing career.

Signs & symptoms

The symptoms of Parkinson’s disease can vary from person to person. The early signs associated with the disease can be very subtle and possibly could go unnoticed. The symptoms tend to begin on one side of the body and typically remain worse on that side even after the symptoms begin to affect both sides.

  • Tremor
    • Often the shaking characteristic associated with Parkinson’s begins in the hand. Pill-rolling (the back-and-forth movement of the thumb and forefinger) is common. Not everyone experiences tremors.
    • Bradykinesia (slowed motion)
      • The reduced ability to initiate involuntary movements may make the simplest tasks difficult and time-consuming.
      • Rigid muscles
        • Muscles stiffness can result in any part of the body. The stiffness can be so severe that it limits the patient’s range of movements and can cause pain. The first sign of rigid muscles is the noticing of a longer arm swing when walking.
        • Impaired balance or postural instability
          • Posture may become stooped and balance problems may occur; however, they are usually present in the later stages of the disease.
          • Loss of automatic movements
            • In Parkinson’s the normal unconscious acts such as smiling, blinking, and swinging of the arms when walking tends to be diminished or even lost. Some patient’s develop a fixed staring expression and don’t blink their eyes; while other may no longer show animation or gesture when speaking.
            • Speech changes
              • Many patients suffering from Parkinson’s have problems with speech. Slurring or repeating words, hesitating before speaking, or speaking more softly, monotone, or rapidly is common.
              • Dementia
                • In later stages some people develop problems with memory and mental clarity. The use of Alzheimer’s drugs appears to alleviate some of these symptoms.
                • Parkinson’s disease is often accompanied by additional problems. Some of the common complications include:
                  • Depression
                  • Sleep problems
                  • Difficulty chewing and swallowing
                  • Urinary problems
                  • Constipation
                  • Sexual dysfunction
                  • Digestion problems
                  • Low blood pressure
                  • Temperature sensitivity

Parkinson’s symptoms vary from person to person as well as in their severity. Besides, varying between patients the disease can increase in severity over the person’s life time. The Hoehn and Yahr scale is used to rate the severity of the disease: 1-2 represents early-stage, 2-3 mild-stage, and 4-5 advanced stage Parkinson’s.

Mild Parkinson’s is classified as

  • Movement symptoms may be inconvenient and usually don’t affect daily activities, and a tremor usually occurring on one side of the body.
  • A change in posture, walking ability, or facial expression
  • Parkinson’s medications suppress movement symptoms effectively
  • Exercising regularly improves and maintains mobility, flexibility, range of motion, and balance; it may also reduce constipation and depressions

Moderate Parkinson’s

  • Body moves more slowly
  • Movement symptoms now occur on both sides of the body
  • Trouble with balance and coordination
  • “freezing” episodes where feet feel stuck on the ground
  • The Parkinson’s medications start to wear off and may cause side effects
  • Regular exercise is still important; including physical and occupational therapy

Advanced Parkinson’s

  • Great difficulty walking
  • Unable to live alone
  • Assistance needed with all daily activities
  • Balancing the side effects and benefits of medications becomes more difficult

Etiology

Brain scans showing areas affected by Parkinsons

Parkinson’s disease still remains a mystery as to the cause (etiology). However, several factors appear to play a role: environmental triggers, genetics, and changes in the brain. Besides having factors that could cause the disease other risk factors are known to play a role in the development of Parkinson’s.

  • Genetics
    • Through ongoing research a specific gene mutation that is likely to play a role in Parkinson’s has been identified. Scientists also suspect that more changes in genes either inherited or from an environmental exposure may also be responsible for the disease
  • Environmental triggers
    • Certain viruses and exposure to toxins may play a role the of a trigger in causing Parkinson’s
  • Lack of Dopamine
    • Many of the symptoms of Parkinson’s disease result from the low levels of dopamine in the brain. When specific brain cells that produce dopamine die or become impaired the low levels of dopamine are seen. The exact cause of why and how this occurs is still unknown.
  • Presence of Lewy bodies
    • Lewy bodies are unusual protein clumps that are often found in the brains of Parkinson’s patients. As to how they got there and the damage they cause, if any, is also unknown at this time.
  • Low levels of norepinephrine
    • The damage to nerve endings in people with Parkinson’s results in loss of norepinephrine product. Norepinephrine plays a role in regulating the autonomic nervous system, which serves as blood pressure regulator.
  • Age
    • Parkinson’s ordinarily begins in middle to late life, and the risk continues to increase with age.
  • Sex
    • Men are more likely to develop Parkinson’s than women
  • Heredity
    • Having close relatives who’ve been diagnosed with Parkinson’s disease increases your risk for also developing it. However, the risk is no more than 4-6%.
  • Exposure to toxins
    • Pesticide and herbicide exposure for prolonged periods of time puts you at a slightly higher risk.
  • Declining estrogen levels
    • Post menopausal women who do not use hormonal replacement are at an increased risk as well as those who’ve had a hysterectomy
  • Low levels of B vitamin folate
  • Head trauma
    • Recent research has provided a link between damage to the head, neck, or upper spine and the development of Parkinson’s

Substantia nigra and Parkinson's disease

Diagnosis

Although there is no definitive test for diagnosing Parkinson’s disease, increasing the difficulty of diagnosing the disease in the early stages, the diagnosis is based off neurological and medical history. The common symptoms of Parkinson’s can also be associated with other problems including head trauma. Also, the diagnosis of Parkinson’s is most likely if the patient has: onset of symptoms on one side of the body, significant improvement with levodopa (a Parkinson’s drug), at least one of the three cardinal signs and symptoms – tremor, muscle rigidity or slowing of motion, and a tremor more pronounced at rest. Animation of facial expressions will also be evaluated when your doctor is trying to determine if you have Parkinson’s.

  • Neurological exams
    • Includes an evaluation of your walking and coordination. Some simple hand tasks may also be evaluated
  • Medical history
    • Your doctor will want to know about any medications you are currently taking and whether or not you have a family history of Parkinson’s
  • Autonomic system testing
    • The autonomic system regulates the cardiovascular, respiratory, and digestive functions; these functions are impaired in those who suffer from Parkinson’s.

Parkinsons patient getting examined

If you or a loved one is thinking they have Parkinson’s finding a specialist will be beneficial. The Parkinson’s Disease Foundation has a helpline (800)457-6676 that will help you locate a specialist in your area.

Treatment

Many different treatment options are out there to try and help control the symptoms of Parkinson’s disease because there is no cure. Medications, physical therapy, surgery, lifestyle and home remedies, as well as alternative medicine options exist for the treatment of patient’s dealing with this disease.

  • Medications can help manage problems with tremor, movement, and walking by increasing the brain’s supply of dopamine. The initial response to Parkinson’s treatment can be very dramatic. However, over time the benefit of drugs frequently diminishes or becomes less consistent.
    • Levodopa
      • Is the most effective Parkinson’s drug and is usually taken in combination with another medication. When taking the drug as a pill, it passes through the brain and is converted into dopamine. However, as the disease progresses the benefits have a tendency to wear off requiring medication adjustments.
    • Dopamine agonists
      • These drugs mimic the effects of dopamine in the brain and cause the neurons to react as though dopamine is present. Although they are not as effective they last longer and are often used to smooth the off-and-on again effects of levodopa.
    • MAO B inhibitors
      • These drugs help to prevent the breakdown of both naturally occurring dopamine and dopamine formed from levodopa. By inhibiting the activity of enzymes MAO B which metabolizes dopamine in the brain.
    • Anticholinergics
      • Used to help control the tremor associated with Parkinson’s disease.
    • Glutamate (NMDA) blocking drugs
      • Used in the early stages of Parkinson’s to provide short-term memory relief. Also these drugs may be added to carpidopa-levodopa therapy for those in the later stages of Parkinson’s.
    • Catechol O-methyltransferase (COMT) inhibitors
      • These drugs prolong the effects of carbidopa-levodopa therapy by blocking an enzyme that breaks down levodopa.
  • Physical Therapy is beneficial in keeping the range of motion and muscle tone. However, no specific exercises can stop the progression of Parkinson’s, maintain muscle strength and agility can help counter some of the progressive tendencies of the disease. A speech pathologist can help improve problems with speaking and swallowing, while the physical therapist can work on improving gait and balance.
  • Surgery is used for deep brain stimulation. This procedure involves implanting an electrode deep within the part of the brain that controls movement. The amount of stimulation that occurs is controlled through a pacemaker-like device that is placed just under the skin of the upper chest. The deep brain stimulation is often used for patients with advanced stage Parkinson’s who are having unstable medication responses. The tremor is very responsive to this therapy. Serious risks including brain hemorrhage or stroke are uncommon. Infection is a risk and could require parts of the device to be replaced.
  • Lifestyle and home remedies may help by making living with Parkinson’s easier.
    • Healthy eating
      • Eating a well balanced diet that contains plenty of fruits, vegetables, and whole grains. The high fiber content prevents constipation that is associated with Parkinson’s disease.
    • Walking with care
      • Since Parkinson’s can disturb your balance, walking with a normal gait may be difficult. Avoiding walking to quickly, aiming for the heel to strike the floor first when walking and stopping to check posture if shuffling is noticed will be beneficial.
    • Avoiding falls
      • In the later stages the chances of falling is increase; a small bump or push could easily throw you off balance. Suggestions that could help with avoiding falls include: avoid walking backwards, not carrying things when walking, not leaning or reaching, and not pivoting the body over the feet when turning.
    • Dressing
      • This can be the most frustrating activities. The loss of fine motor control makes it hard to button or zip clothing, and even to step into a pair of pants. By seeing an occupational therapist they can help point out techniques that will make daily activities easier. Also allowing plenty of time to avoid filling rushed, laying clothes nearby, choosing clothes than can easily be slipped on, and the use of fabric fasteners can make life easier.
  • Alternative Medicine
    • Coenzyme Q10
      • Parkinson’s patients tend to have low levels of coenzyme Q10 and some research shows suggests it may be beneficial.
    • Massage
      • Massage therapy may reduce muscle tension promoting relaxation, which can be especially for those experiencing muscle rigidity.
    • Tai Chi
      • Employs slow, flowing motions that help improve flexibility and balance.
    • Yoga
      • Increases flexibility and balance
    • Acupuncture

Incidence and mortality

 Parkinson’s disease can be hard to properly diagnose so some cases of Parkinson’s may go undetected. 1 million people in the United States and 7 to 10 million people worldwide have Parkinson’s disease. There are also 50,000 to 60,000 new cases reported every year.  The prevalence is 1 to 2% of the general population of 65.  Parkinson’s is not considered to be fatal; however those who suffer from Parkinson’s have a shorter life expectancy. One study showed that the average of death for Parkinson’s patients is 81 and from the onset of symptoms to death is on average 16 years.

Research, charities & Support groups

                Parkinson’s disease presents special problems because it can cause chemical changes in the brain that make you feel anxious or depressed. Friends and family can the best allies for patients with Parkinson’s, the understanding of people who know what you’re going through can be especially helpful. Support groups aren’t for everyone but, many people find it beneficial.

The Michael J Fox foundation has been very public in its goal to develop a cure for Parkinson’s. There is currently a broad range of research being done on Parkinson’s disease. Some current studies are being conducted to identify and locate the genes that lead to Parkinson’s. Stem cell research is also being studied to try and transform cells in the body.

http://www.parkinson.org/

http://www.pdf.org/

http://www.michaeljfox.org/

Sources

http://www.mayoclinic.com/health/parkinsons-disease/DS00295

http://www.webmd.com/parkinsons-disease/news/20101004/parkinsons-later-diagnosis-earlier-death

http://www.parkinson.org/

http://www.pdf.org/

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001762/

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001762/

Meningitis

April 10, 2012

Meningitis

Sandie L.

Meningitis is a bacterial infection of the membranes covering the brain and spinal cord (meninges). Meninges are the soft tissue membranes which cover the brain and spinal cord underneath the skull and spinal column. Meningitis is capable of being a life-threatening disease or can resolve on its own after a few weeks depending on what it is caused from. Children, teens, and young adults are the most common people to get meningitis. Meningitis that affects babies up to 2 or 3 months old is called neonatal meningitis. There are five different types of this disease including: bacterial, viral, parasitic, fungal, and non-infectious meningitis. The most important thing is to go to the doctors immediately if you suspect you have any of the signs or symptoms.  Going sooner rather than later could save your life depending on what you have.

Bacterial meningitis is nothing to take lightly.  This requires immediate medical attention and will take antibiotics to treat. Not getting treatment quick enough can lead to brain damage and death. This can progress rapidly and the disease can claim lives in a matter of a few days. There are many different pathogens that cause bacterial meningitis, some of those most common are Haemophilus influenza, Streptococcus pheumoniae, group B Streptococcus, Listeria monocytogenes, and Neisseria meningitidis.  College students living in dorms are required to immunize against meningitis because this is an infectious disease that spreads quickly where there are large groups of people. Some of the pathogens can be considered contagious, but luckily for us most of the pathogens are not contagious.  They could be spread though if you have a compromised immune system or you have been in close quarters with someone who does have bacterial meningitis. A healthy person can carry the bacteria in their nose and throat without getting sick.  It is opportunistic and waits till the immune system is down. Signs and symptoms include fever, headache, stiff neck, nausea, vomiting, light sensitivity, and confusion.  Most signs and symptoms develop within 3-7 days of being exposed to the bacteria.  Diagnosing meningitis is done by taking samples of blood or cerebrospinal fluid.  These will be sent to a lab to be tested.  The certain type of bacteria that is the cause is necessary so doctors will know how to correctly treat, how bad the symptoms can get, and how to prevent further signs and symptoms. Cultures sometimes will be grown as well to detect the presence of bacteria.  Bacterial meningitis can be treated with antibiotics, but it is a must that treatment is started as soon as possible.  Antibiotic therapy can reduce your chance of dying from bacterial meningitis to less than 15%.  The most common prevention for this disease is to receive your immunization against it.

Age Group Causes
Newborns Group B Streptococcus, Escherichia coli, Listeria   monocytogenes
Infants and Children Streptococcus pneumoniae, Neisseria meningitidis, Haemophilus   influenzae type b
Adolescents and Young Adults Neisseria meningitidis, Streptococcus pneumoniae
Older Adults Streptococcus pneumoniae, Neisseria meningitidis, Listeria   monocytogenes

Most meningitis cases are caused by a viral infection. Viral meningitis may improve without treatment in a matter of 2 weeks. This is usually less severe than bacterial meningitis.  A group of viruses caused Enteroviruses have been reported to cause thirty percent of viral cases in the United States.  Many of the viral meningitis cases never have a specific virus named.  These viruses tend to circulate late summer and early fall. Viral meningitis can affect anyone and everyone, but infants younger than 1 month and people with compromised immune symptoms are at higher risk.  Enteroviruses are most commonly spread from person to person through fecal contamination.  This can happen when changing a diaper or using the bathroom and not washing your hands. Respiratory secretions like saliva and mucus can also spread the enterovirus. Signs and symptoms of viral meningitis are fever, headache, stiff neck, nausea, vomiting, light sensitivity, and confusion.  Diagnosing viral meningitis can be done by blood samples and cerebrospinal fluid samples.  Unfortunately there is no specific treatment for viral meningitis, but most patients recover on their own with no treatment.  There is no vaccine to guard against viral meningitis, but there are other things you can do to help prevent yourself from getting this disease.  Washing your hands, disinfect things before you touch them like shopping carts, avoid kissing or sharing drinks with strangers; you don’t know what they have, and just try to be a healthy person so your immune system doesn’t get weak.

Parasitic meningitis is called primary amebic meningoencephalitis (PAM) and is a very rare form of meningitis that causes a fatal brain infection. The Naegleria fowleri parasite enters the body through the nose and this occurs in people who go swimming and diving in warm freshwater places.  You can’t get this by drinking contaminated water. This leads in destruction of brain tissues. Initial symptoms start 1 to 7 days after infection occurred. These symptoms include headache, fever, nausea, and stiff neck. Later symptoms that can happen are hallucinations, loss of balance, seizures, confusion, and not paying attention.  This disease can cause death within 12 days.  The PAM disease is rare so diagnosis usually doesn’t happen because the symptoms are more likely caused by other more common meningitis diseases. Treatment can be effective with certain drugs, but none have been tested on patients only in labs because the disease takes lives so fast.

Fungal infections are not that common in the disease, but can happen.  The fungal infection can lead to chronic meningitis.  Cryptococcal meningitis is a common form that happens to people with immune system problems, like AIDS. This fungal infection needs to be treated with an antifungal medicine and can become life threatening if it is not. Histoplasma can cause meningitis and can happen to anyone, but people with immunodeficiences are, of course, at higher risk.  Coccidioides is found in the soil of southwestern United States and northern Mexico, this can cause fungal meningitis.  People at higher risk of this kind of coccidioidal meningitis are 3rd trimester pregnant women, African American, Filipinos, immunocompromised person. Fungal meningitis is not contagious.  People get this from inhaling fungal spores from the environment.  So where you live can increase or decrease your chances of contracting this rare form of the disease. Cryptococcus is contracted from inhaling soil contaminated with bird droppings that were carrying this.  Histoplasma can be got from inhaling soil with lots of bird or bat droppings.  Signs and symptoms often occur more gradually in fungal meningitis but they include headache, stiff neck, nausea, vomiting, light sensitivity, confusion, and personality changes.  To confirm a patient having fungal meningitis blood and cerebrospinal fluid samples will be taken and specific lab tests must be done to determine specific type of fungal infection. Treatment of this disease is with high doses of antifungal medicine that is usually given intravenously. Treatment length depends on the fungus, patients’ health, and how the treatment is progressing.  Prevention to fungal meningitis can be done by avoiding those areas above stated so you reduce your chances.

Noninfectious meningitis has some different causes like cancers, lupus, head injuries, brain surgeries, and some drugs.  This isn’t spread person to person; this is something you just develop. This has some of the same symptoms as the other meningitis’ like fever, headache, and stiff neck.  Other symptoms that can occur are nausea, vomiting, and light sensitivity.

Meningitis signs and symptoms can develop very rapidly over a couple hours or in a few days.  These are signs and symptoms that can be seen in all the different meningitis’ so we know what we are looking for so we can diagnose and treat early. Some signs and symptoms that can happen in individuals over the age of 2 years old include:

*         High fever

*         Severe headache that is unlike any other headache you’ve experienced

*         Stiff neck

*         Vomiting or nausea with headache

*         Confusion or difficulty concentrating

*         Seizures

*         Sleepiness or difficulty waking up

*         Sensitivity to light

*         Lack of interest in drinking and eating

*         Skin rash in some cases, such as in viral or meningococcal meningitis

Incidence and Mortality

Overall during 2003-2007, approximately 4100 cases of bacterial meningitis occurred annually in the United States, with approximately 500 deaths (Emedicine). Fifteen percent of the cases seen are young adults and adolescents.  The rate of S pneumoniae meningitis was 6.5 cases per 100,000 children that were from 1 month to almost 2 years old (Emedicine). The U.S. Centers for Disease Control and Prevention estimates that 1,400 to 2,800 adults and children in the United States come down with bacterial meningitis each year. Of these, 30 percent are teenagers and young adults, and 16 percent are babies under age 1.Of all those who are infected with meningitis almost twenty percent of the cases will result in some sort of long term consequence like brain damage.  Incidence rates are higher in black and Native American populations.

Meningitis Research Foundation is an amazing foundation founded in 1989 that is working towards eliminating meningitis by doing innovative research.  They are currently funding 19 research projects. Not only are they working towards a cure they also offer support for those affected by the disease.  You can help the cause by donating money that goes to help fund research. http://www.meningitis.org

Meningitis takes many babies lives because they are not strong enough to fight it off.  The March of Dimes works to improve the health of babies who are under a year.  They fund research to help prevent premature births and make babies stronger.  All this research helps so fewer babies are affected by the disease.  Check them out at http://www.marchofdimes.com/

The Ronald McDonald House Charities helps programs that support different programs that work to improve the health and well-being of children.  This is another great charity that would greatly benefit meningitis research in children.  They do great things like provide a home like atmosphere when a families little one is sick, so even if you are far from home you are never far from home.  www.rmhc.org

http://www.cdc.gov/meningitis/parasitic.html

http://www.cdc.gov/meningitis/fungal.html

http://www.cdc.gov/meningitis/bacterial.html

http://www.cdc.gov/meningitis/non-infectious.html

http://www.cdc.gov/meningitis/viral.html

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001700/

http://www.mayoclinic.com/health/meningitis/DS00118

http://www.mayoclinic.com/health/meningitis/DS00118/DSECTION=treatments-and-drugs

http://children.webmd.com/vaccines/tc/meningitis-topic-overview

http://www.nmaus.org/meningitis/

http://www.meningitis.com.au/about_meningitis/viral_meningitis.phtml

http://emedicine.medscape.com/article/961497-overview#a0199

http://www.babycenter.com/0_meningitis_1768.bc

Spina Bifida

April 9, 2012

T. Rossi 

Introduction

Spina bifida is part of a group of neural tube birth defects in which the backbone and spinal canal do not close before birth.  The embryonic structure that eventually develops into the brain and spinal cord is called the neural tube.  In babies with spina bifida, a portion of the neural tube fails to develop or close properly.  This congenital disease results in spinal cord and backbone defects.  There are many degrees of spina bifida depending on the severity.  Risk factors are characterized by many health concerns.  Treatment is a necessity to help babies with this defect, but not all surgeries are completely successful.

Pathogenesis

Spina bifida has three noted forms depending on severity.  The three forms include, spina bifida occulta, meningocele, and myelomeningocele.

Spina bifida occulta is the mildest, most common form of spina bifida.  This defect results in a small separation in one or more of the vertebrae of the spine.  Spinal nerves normally are not involved; therefore most children with this mild form show no signs or symptoms and do not experience neurological problems.  Visible indications may or may not be seen on the baby’s skin about the spinal defect.  These indications include:

  • Abnormal tuft of hair
  • Collection of fat
  • Small dimple or birthmark
  • Slight to pronounced skin discoloration

Many individuals do not know that they have spina bifida occulta due to the fact that it does not have any neural complications.  Determining this form of spina bifida needs imaging tests to view this condition.

The rare form of spina bifida is meningocele, which has physical manifestations and if not treated, will have obvious symptoms.  This is determined when the protective membranes, meninges, around the spinal cord pushes out through the opening in the vertebrae.  This is a very treatable form due to the spinal cord developing normally.  Surgery removes the membranes with little or no damage to the spinal nerves.  Physical protrusions on the spine may be seen during ultrasounds or at birth.  Signs and symptoms are similar to spina bifida occulta, only differing in expressing physical manifestations due to spinal nerve involvement.

Myelomeningocele is the most severe form of spina bifida.  This is the form that most people are familiar with and expresses physical manifestations.  Myelomeningocele is when the baby’s spinal canal remains open along several of the vertebrae in the middle and lower back.  Due to this opening in the vertebrae, the membrane and spinal cord protrude at birth.  This forms an exposed sac on the back filled with tissues and nerves.  This sac may or may not be covered with skin.  Once the sac is exposed, the baby is prone to life-threatening infections if treatment is not sought one or two days after birth.  Urgent surgery is needed when the sac is not covered by skin.  Due to nerve involvement, neurological impairment is very common and include:

  • Muscle weakness or paralysis
  • Bowel and bladder problems
  • Seizures
  • Orthopedic problems, such as, deformed feet, uneven hips and scoliosis
  • Hydrocephalus

Follow-ups and constant monitoring is needed in this case to be sure no other problems or complications are developing.

All forms of spina bifida occur before birth.  If surgery is required, they may be done either prenatally or postnatally, depending on the severity and possible risks for the baby.

Etiology

There is not a certain cause for spina bifida, but rather it results from a combination of genetic and environmental risk factors.  Risk factors range from family history to proper prenatal care.

  • Race is a risk factor for whites and Hispanics to develop spina bifida more commonly.
  •  Family history is a very important risk factor, as it is seen to follow genetic lines.  In families that have had a child with a neural tube defect, their successional children have an increased risk to be born with neural tube defects.  However, a great number of babies born with spina bifida have no known family history of such condition.
  • Folate, vitamin B-9, deficiency increases the risk of neural tube defects.  Many foods are fortified with folic acid, as well are prenatal vitamins.
  • Anti-seizure medications taken during pregnancy have been linked to neural tube defects to the interference with folic acid utilization.
  • Diabetes and obesity are associated risk factors.
  • Some evidence to cause spina bifida has suggested increase body temperature in the early weeks of pregnancy.  Fever, saunas, and hot tubs may be associated risks.

Diagnosis

            Once pregnant, doctors will offer a prenatal screening tests with tests for spina bifida and other birth defects.  Although these tests are not perfect, they can prepare a family to consider the best options for their unborn child.  Some tests may come back positive and the baby is born with no defects, whereas, just the opposite can occur.  Talking with your family and doctor is the best way to avoid risks and help handle the results.  Some simple tests can be done by blood tests, ultrasounds, and amniocentesis.

Blood tests, such as the maternal serum alpha-fetoprotein test, are done during the second trimester of pregnancy.  This is a common test to check for myelomenigngocele.  The blood is drawn, sent to a lab, and is tested for alpha-fetoprotein, a protein that is produced by the baby.  It is normal for a small amount to cross into the mother’s bloodstream, but abnormally high levels suggest that a neural tube defect, spina bifida or anencephaly.  Some cases, spina bifida does not produce a high number of alpha-fetoprotein levels so more blood tests may be necessary to further determine the baby’s condition.

Ultrasounds are a main source for detection of spina bifida.  In addition to blood tests, an ultrasound is used to determine the severity of neural tube defect if indicated by a blood test.  Advanced ultrasounds help detect an open spine or particular features in the baby’s brain that may indicate spina bifida.  Ultrasounds are safe for both the mother and baby.

Amniocentesis is another test following positive results from the blood tests and negative results from the ultrasound.  This detects alpha-fetoproteins in the amniotic fluid surrounding the baby.  If the skin around the baby’s spine is gone, the protein leaks into the fluid.  This test is done by inserting a needle into the mother’s stomach, into the amniotic sac, and taking a sample of fluid.  Analysis indicates the level of alpha-fetoproteins that are present.  A small amount of the proteins should be found in the amniotic fluid, but neural tube defects elevate this level.

Treatment

Treatment for spina bifida is determined by the severity of the condition.  Some conditions do not require any treatment at all.  Postnatal surgery is the treatment for meningocele and myelomeningocele, usually performed 24 to 48 hours after delivery of the baby.  Surgery so early can help reduce the risk of infection that could occur when the spinal nerves are exposed.  Also, this helps minimize additional damage to the spinal cord. During this postnatal procedure, a neurosurgeon places the spinal cord back into the baby’s body and covers them with muscle and skin.  During a prenatal surgery, which is done before the 26th week of pregnancy, surgeons expose the mother’s uterus, open the uterus, and repair the neural defect.  Prenatal surgery may repair spina bifida defects while still pregnant, reducing further complications after birth.  Although the after birth defects are reduced, the risk opposed to the mother are greatly increased, such as premature delivery.

Spina bifida treatment does not end with the initial surgery performed.  Shunts may also be placed later to reduce complications from babies born with hydrocephalus.  The forms of spina bifida with physical manifestations have irreparable nerve damage that has already occurred.  Ongoing care from a team of specialists are usually needed.  Paralysis, bladder, and bowel problems normally remain, so treatment of these conditions begins as soon as birth.  Babies with myelomeningocele start physical therapy to prepare their bodies for appliances to help them eventually walk.  As the child grows, additional surgeries may be needed to help properly close and grow the spinal column.

Incidence & Mortality

Spina bifida incidence has been estimated at 1-2 cases per 1000.  Certain factors alter this statistic, such as genetic predisposition.  Since 1998, folate fortification of grain products has increased; therefore, decrease the incidence by about 70%.  In the United States, neural tube defects are the second most common type of birth defect after congenital heart defects.  Myelomeningocele is the most common form.  Approximately 1500 babies are born with this most common form each year.  The postnatal morbidity and mortality rate is estimated at 25%.

Research, Charities, and Support Groups

There are many support groups for families and individuals coping with spina bifida.  Some websites for information are:

http://www.fetalhope.org/patients-families

http://www.dailystrength.org/c/Spina-Bifida/support-group

http://www.spinabifidasupport.com/

http://www.spinabifidaassociation.org/site/c.liKWL7PLLrF/b.2708697/k.AA75/Helpful_Resources.htm

https://www.birthdefects.org/

All of these sites are organizations that provide wonderful information from doctors, scientists, and individuals living with spina bifida.  For more information, research, and support, visit the above links.

Resources

http://www.mayoclinic.com/health/spina-bifida/DS00417

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002525/

http://spinabifidainfo.com/meningocele-vs-myelomeningocele/

http://www.ninds.nih.gov/disorders/spina_bifida/detail_spina_bifida.htm

http://emedicine.medscape.com/article/311113-overview#showall

http://www.sonoworld.com/fetus/page.aspx?id=135

Alzheimer’s Disease

March 31, 2012

Alzheimer’s Disease

LHoward

Introduction:

Alzheimer’s disease is a degenerative disease that affects the nervous system.  It is named after a German doctor, Dr. Alois Alzheimer. When a woman died in 1906 of an unusual mental illness, Alzheimer noticed changes in her brain tissue.  There were abnormal bumps (which are now known as amyloid plaques) and tangled fiber bundles (which are now known as neurofibrillary tangles).  Today, when these plaques and tangles in the brain are seen, they are anticipated as signs of Alzheimer’s disease. To this day, no other brain changes have been found in people with Alzheimer’s disease.

Pathogenesis:

This disorder is seen in elderly persons because it develops over a period of years and is non-reversible.  In normal aging, memory changes occur but Alzheimer’s disease is different because it gradually leads to behavior and personality changes.  Some examples include the inability to make decisions, language skills decline, and the inability to recognize family or friends. AD (Alzheimer’s disease) is the most common cause of dementia among people 65 and older. However it is rare, but some people in their 30’s and 40’s may have Alzheimer’s disease.

Scientists have not yet discovered how the Alzheimer’s disease process begins, but they have learned that damage to the brain begins a decade or even longer before problems have manifested. It is likely that the causes include some mix of genetic, environmental, and lifestyle factors. Because people differ in their genetic make-up and lifestyle, the importance of any one of these factors in increasing or decreasing the risk of developing Alzheimer’s may differ from person to person. During the first stages, people experience no symptoms but toxic changes are occurring in the brain. Abnormal deposits of proteins form amyloid plaques and neurofibrillary tangles and progress into Alzheimer’s disease.  When more of the plaques and tangles form, the healthy nerve cells do not work as well and therefore, are unable to communicate with one another and eventually die.  When the nerve cells die, brain tissue shrinks. In a matter of time, the damage extends to the memory-forming structure of the brain called the hippocampus.  Damage is prevalent and brain tissue has significantly shrunk by the final stage of Alzheimer’s disease.

Signs:

One of the first signs of cognitive loss is memory problems, possibly due to the development of Alzheimer’s disease. A decline in other aspects of cognition, such as word-finding, vision/spatial issues, and impaired reasoning or judgement, may also signal the very early stages of Alzheimer’s disease.

Symptoms:

  • Loss of Abstract Thinking

–           Someone with Alzheimer’s disease may lose the ability to draw conclusions and solve problems. It may become difficult to balance a checkbook, for example, because the patient has forgotten what to do with the numbers.

  • Disorientation

–          People with Alzheimer’s disease can become lost on the street where they live, forget where they are and how they got there, and not know how to get back home.

  • Lack of Initiative

–          A person with the disease may become passive or unmotivated, sitting in front of the television for hours, sleeping more than usual and not pursuing his or her usual activities.

  • Language Problems

–          People with Alzheimer’s disease often forget simple words or substitute words with inappropriate ones. An Alzheimer’s patient who can’t find his or her toothbrush may ask for “that thing for my mouth.”

  • Misplacing Items

–          It is common to misplace things such as a wallet or keys occasionally, but people with Alzheimer’s disease may place things in uncommon places. For example, they may put the telephone in the freezer.

  • Mood Swings

–          For no apparent reason, people with Alzheimer’s disease go from being calm and collected to tears to enraged anger.

  • Personality Changes

–          Personalities tend to change with age, but a person with Alzheimer’s disease may have a severe personality change, becoming extremely confused, suspicious, fearful or dependent on a family member.

  • ·         Poor Judgment

–          A loss of judgment is a common symptom. A patient may dress without regard to the weather, wearing several shirts or blouses on a warm day or very little clothing in cold weather. Others may give away large amounts of money to telemarketers or pay for home repairs or products they don’t need.

Etiology:

Scientists do not fully understand what causes Alzheimer’s disease, but it has become increasingly clear that it develops because of a complex series of events that take place in the brain over a long period of time.  Research suggests that genetic, environmental, and lifestyle factors are likely the cause of Alzheimer’s disease. Cognitive decline and vascular and metabolic conditions such as heart disease, stroke, high blood pressure, diabetes, and obesity understanding and testing may help scientist understand whether reducing risk factors for these conditions will help with Alzheimer’s disease too. Due to the fact that people have different lifestyles and genetic make-up, the importance of these factors in increasing or decreasing the risk of developing Alzheimer’s disease differs from person to person.

Diagnosis:

The diagnosis of Alzheimer’s disease can only be done after death because the examination of brain tissue and pathology must be measure in an autopsy. Today, doctors have developed several methods and tools to aid them in a fairly accurate determination of whether a person experiencing memory problems has probable or possible Alzheimer’s dementia.

In order to diagnose Alzheimer’s disease doctors may ask questions about overall health, past medical problems, the patient’s ability to carry out daily activities and if the patient has experienced changes in behavior and personality.  The doctor may ask conduct tests of memory, problem solving, attention, counting, and language.  Other tests that the doctor may perform are standard medical tests like blood and urine tests to help identify other possible causes of the problem. Brain scan like computed tomography (CT) or magnetic resonance imaging (MRI) may be done to distinguish Alzheimer’s disease from other possible causes like stroke or tumor.  These tests may be repeated so doctors can interpret how the patient’s memory is changing over time.

Early, accurate diagnosis is advantageous for many reasons. Early diagnosis can tell people whether their symptoms are from Alzheimer’s disease or from another cause like a stroke, tumor, sleep disturbances, Parkinson’s disease, or side effects of medications, which may be treatable or reversible.

Although the progression of Alzheimer’s disease cannot be change, having an early diagnosis can help the family plan for the future. Families can make living arrangements, attend to financial and legal matters, and develop support groups.

Treatment:

There are not medications to prevent or slow the progression of Alzheimer’s disease. But doctors prescribe four FDA-approved medications to treat AD symptoms. These drugs help the patient perform daily tasks by maintain thinking, memory, and communication skills. The drugs can also aid in personality and behavioral changes associated with Alzheimer’s disease. Although these drugs will help for a few months to a few years, they will not stop or reverse Alzheimer’s disease. The doctor will prescribe the best medication for the patient based on factors such as age, overall health, and medical history.  The extent of the disease, the patient’s tolerance for specific medicines and therapies, expectations for the course of the disease, and the patient and his or her caregiver’s opinions or preferences are also considered while finding an appropriate medication to treat Alzheimer’s disease symptoms.

Some drugs prescribed to treat mild to moderate Alzheimer’s disease symptoms include: Donepezil (Aricept), rivastigmine (Exelon), and galantamine (Razadyne).  Donepezil was also approved by the FDA to treat severe Alzheimer’s disease symptoms. Exelon is available as a skin patch, capsules, and liquid form.  Razadyne is available in an extended-release capsule, immediate-release tablet, and liquid forms. The newest medication to treat moderate to severe AD symptoms is memantine (Namenda).  Namenda is different from other Alzheimer’s disease treatments because it is thought to play a protective role in the brain by regulating the activity of a different brain chemical called glutamate. Glutamate is also associated with learning and memory. This is essential because people with Alzheimer’s disease secrete too much glutamate. It may have an increased benefit with used with other medications as well.

Incidence and Mortality:

The prevalence of this disease varies, but experts suggest that as many as 5.4 million Americans have Alzheimer’s disease in 2011. This figure includes 5.2 million people aged 65 and older and 200,000 individuals under age 65 who have younger-onset Alzheimer’s disease. One in eight people aged 65 and older (13%) has Alzheimer’s disease. Nearly half of people aged 85 and older (43%) have Alzheimer’s disease. Of those with Alzheimer’s disease, an estimated 4% are under age 64, 6% are 65 to 74, 45% are 75 to 84, and 45% are 85 or older.  The estimated numbers for people over 65 come from the Chicago Health and Aging Project (CHAP). 

Alzheimer’s disease is the sixth-leading cause of death across all ages in the United States. It is the fifth-leading cause of death for those aged 65 and older. Alzheimer’s disease was reported as the underlying cause of death for 82,476 people. Although people younger than 65 can develop and die from Alzheimer’s disease, the highest risk of death is in people aged 65 and older. The death rates for Alzheimer’s disease increases dramatically with age.

Research:

Scientists are conducting studies to learn more about plaques, tangles, and other features of Alzheimer’s disease. They can now visualize beta-amyloid associated with plaques by imaging the brains of living individuals. They are also exploring the earliest steps in the disease process, in hope to further understand the cause of Alzheimer’s disease.

 Another study being performed is on the mystery of why Alzheimer’s disease strikes older adults. The answer may be found in the research on how the brain changes normally with age. Scientists are learning how age-related changes in the brain may harm neurons and contribute to damage of the brain. They are studying the shrinking of certain parts of the brain, inflammation, the production of free radicals, and mitochondrial dysfunction.

New research suggests the possibility that a nutritious diet, physical activity, social engagement, mentally stimulating pursuits and other factors that help people stay healthy as they age may help reduce the risk of cognitive decline and Alzheimer’s diseae.

Charities and Support Groups:

Alzheimer’s Disease Education and Referral Center (ADEAR)
National Institute on Aging
P.O. Box 8250
Silver Spring, MD 20907-8250
adear@nia.nih.gov
http://www.nia.nih.gov/alzheimers
Tel: 301-495-3311 800-438-4380
Fax: 301-495-3334

 

Alzheimer’s Association
225 North Michigan Avenue
Floor 17
Chicago, IL 60601-7633
info@alz.org
http://www.alz.org
Tel: 312-335-8700 begin_of_the_skype_highlighting 312-335-8700 end_of_the_skype_highlighting 1-800-272-3900 begin_of_the_skype_highlighting 1-800-272-3900 end_of_the_skype_highlighting (24-hour helpline) TDD: 312-335-5886 begin_of_the_skype_highlighting 312-335-5886 end_of_the_skype_highlighting
Fax: 866.699.1246

 

Alzheimer’s Foundation of America
322 Eighth Avenue
7th Floor
New York, NY 10001
info@alzfdn.org
http://www.alzfdn.org
Tel: 866-AFA-8484 begin_of_the_skype_highlighting 866-AFA-8484 end_of_the_skype_highlighting (232-8484)
Fax: 646-638-1546

 

Alzheimer’s Drug Discovery Foundation (formerly, Institute for the Study of Aging)
57 West 57th Street
Suite 904
New York, NY 10019
info@alzdiscovery.org
http://www.alzdiscovery.org
Tel: 212-901-8000 begin_of_the_skype_highlighting 212-901-8000 end_of_the_skype_highlighting
Fax: 212-901-8010

 

National Institute of Mental Health (NIMH)
National Institutes of Health, DHHS
6001 Executive Blvd. Rm. 8184, MSC 9663
Bethesda, MD 20892-9663
nimhinfo@nih.gov
http://www.nimh.nih.gov
Tel: 301-443-4513/866-415-8051 301-443-8431 (TTY)
Fax: 301-443-4279

 

Sources and Resources:

www.ninds.nih.gov/disorders/alzheimersdisease

www.ncbi.nlm.nih.gov

www.nihseniorhealth.gov/alzheimersdisease

www.nia.nih.gov/alzeimersdisease

www.ucsfhealth.org

 

Acromegaly

March 30, 2012

Acromegaly
Abby Horkey

Introduction:
Acromegaly is a rare endocrine disorder that develops when the pituitary gland produces too much growth hormone. The pituitary gland is sometimes referred to as the master gland because it helps the other glands operate due to its ability to store and secrete hormones. The hormones that are manufactured by the pituitary gland include: thyroid stimulating hormone (TSH), luteinizing hormone (LH), follicle stimulating hormone (FSH), prolactin, growth hormone, adrenocorticotropic hormone (ACTH), antidiuretic hormone (ADH) and oxytocin. Growth hormone is important in its role for growth and regeneration of bones and other tissues by stimulating the liver to produce insulin-like growth factor.

Image

Pathogenesis:
Acromegaly is caused by two types of tumors: pituitary tumors and nonpituitary tumors. Generally, most cases are caused by a noncancerous tumor of the pituitary gland. As these tumors grow, pressure increases on the nearby tissues. However, few people develop acromegaly due to a benign or cancerous tumor located in another part of the body. Tumors have been reported on the lungs, pancreas or adrenal glands. These tumors, like the benign pituitary adenoma, secrete growth hormone and can also produce growth hormone-releasing hormone (GH-RH) which in turn stimulates the pituitary gland to produce more growth hormone. Acromegaly is most commonly reported in middle aged adults but can be present in children whose epiphyseal plate has not yet closed; acromegaly occurs in adulthood after the long bones in the arms and legs have fully stopped growing. Children who have an excessive amount of growth hormone are diagnosed with “gigantism” rather than acromegaly. Children affected by this can reach a height of 6’11’’ to 8’11’’ by adulthood if untreated. One of the most well known cases of gigantism is ‘Andre the Giant’ who, by age 12, was 6’3’’ tall. It has also been suspected that Abraham Lincoln had slight acromegaly. [“Andre the Giant” in picture below]

Image

As acromegaly progresses, it can cause a series of complications and health problems. Due to the excessive bone growth, arthritis can develop which can lead to more problems by placing pressure on nerves of the spine or spinal cord. Other conditions that may develop include: carpal tunnel syndrome, colonic polyps, hypopituitarism, sleep apnea, uterine fibroids and vision problems.

Signs and Symptoms [according to http://www.mayoclinic.com]:

  • Body odor
  • Carpal tunnel syndrome
  • Decreased muscle strength
  • Easy fatigue
  • Excessive sweating
  • Joint pain
  • Large facial bones
  • Large feet
  • Large hands
  • Large jaw
  • Widely spaced teeth
  • Excess hair growth in females
  • Unintentional weight gain
Image

Etiology:
The main cause of acromegaly is due to a usually benign (noncancerous) tumor of the pituitary gland called a pituitary adenoma. As the tumor enlarges it creates pressure on the adjacent structures. Since the pituitary gland is located in the brain it can lead to headaches and affect vision. As the pituitary adenoma continues to grow it brings about changes in hormone production, which in the case of acromegaly, the hormone produced in excess is growth hormone. With an increase in growth hormone, bones begin to grow larger than normal. The most distinct feature of acromegaly is enlarged hands and feet.

There is also a condition known as pseudoacromegaly in which the person has relatable features of one who has acromegaly. In contrast, a person diagnosed with pseudoacromegaly will not have an increase in growth hormone and IGF-1. This condition is generally associated with insulin resistance and has been reported to correlate with taking high doses of minoxidil.

Children who experience pituitary gigantism have elevated growth hormone levels occurring in conjunction with the epiphyses closing. If the child has elevated levels of growth hormone before the closure of the skull plates, the adenoma continues to grow and release excessive amounts of hormone.

Image

Diagnosis:
Acromegaly is common in both males and females; however, it becomes more difficult to identify in middle aged people until extreme conditions. Some signs and tests can be taken to confirm Acromegaly and they include [according to http://www.pubmedhealth.gov]:

  • Checking growth hormone levels through blood draw
  • Checking insulin-like growth factor 1 (IGF-1) levels. This is the most useful lab test for diagnosis.
  • Spine x-ray to detect abnormal bone growth
  • Pituitary MRI to detect a pituitary tumor. The patient is given gadolinium (allows for the pituitary and hypothalamus to be seen clearly) prior to the MRI in which the doctor checks the sella turcica.
  • Echocardiogram that may show an enlarged heart, leaking mitral valve or leaky aortic valve
  • Fasting plasma glucose and glucose intolerance test. After a glucose test is conducted, growth hormone levels should be checked 2 hours after which will also aid is diagnosis.
Image

Image

Treatment:
The goal for the treatment of acromegaly is to reduce the production of growth hormone and to alleviate pressure on surrounding tissues. There is not only single effective treatment that helps with all patients. The most common treatment for managing acromegaly is transsphenoidal surgery to remove the pituitary adenoma. During this procedure, the surgeon will extract the tumor through a small incision in the back wall of the nasal cavity. However, the tumor is sometimes too progressed and large that it cannot be completely removed. If the patient does not respond to surgery, radiation of the pituitary gland is also an option.

There are two different types of radiation therapies that are used: conventional and stereotactic radiosurgery. Conventional radiation therapy is given every weekday for four to six weeks. However, with this radiation therapy, results may not appear for up to ten years. Stereotactic radiosurgery uses an intense beam which is aimed at the tumor from multiple directions. There is a higher dose of radiation to the tumor cells and helps eliminate radiation to healthy surround tissues. With radiation the reduction in tumor and overproduction of growth hormone is slow. Radiation therapy can also used in conjunction with surgery and post operatory medications; this type of treatment is commonly used on patients whose tumor is still present after surgery.

Medications may also be prescribed to help treat acromegaly. Medications in the category of Somatostatin analogues (SSAs) are prescribed due to their ability to mimic the brain hormone somatostatin which is a growth hormone releasing inhibiting hormone. By being able to block this hormone, it can decrease growth hormone levels. Octreotide or Parlodel are initially injected subcutaneously every eight hours to check tolerance to the drug. If these medications are not rejected, they can be injected once a month into the gluteal muscles.

Another group of medications that can be prescribed are from the group of growth hormone receptor antagonists (GHRAs). Pegvisomant (Somavert) blocks the growth hormone effect on body tissues and is injected daily subcutaneously. This medication does not lower the levels of growth hormone or reduce the size of the tumor, but it is able to stabilize IGF-I levels and relieve symptoms.

If the disorder is not treated, it can lead to an early death due to complications with lung function, enlarged heart, brain damage and has also been reported to cause cancer in the large intestine which can essentially lead to death as well.
Image

Statistics: Incidence/Mortality/Prevalence:
According to the Office of Rare Diseases (ORD) which is part of the National Institute of Health (NIH), acromegaly is listed as a rare disease. In order for a disorder to be categorized under this title, it affects less than 200,000 people in the US population.

Currently, acromegaly affects about 40-60 individuals out of every one million people in the United States at any time. This prevalence rate calculates to about 6 people out of every 100,000 adults.  Annually, there are 3 out a million cases which is about a rate of 1 in every 333,333 people or 816 people in the USA.

Mortality rates are hard to come by because of only a small number of people are reported with this disease. The mortality rate for individuals with acromegaly is 2-3 times that of the general population. If the patient is treated properly and normal IGF-I levels are restored, normal life expectancy is expected to return. In many cases, individuals are more likely to die due to cardiovascular and respiratory complications caused by the effects of the tumor. [Pictured below is Bao Xishun]

Image

Research:
One of the current focuses of acromegaly research is the study of pituitary tumors. Researchers are trying to learn if the tumors arise spontaneously or if they are linked genetically. Pituitary tumors which arise from genetic change/mutations are not present at birth but are acquired throughout the individual’s life. Genetic changes are due to an alteration in a single pituitary cell leading to an increase in pituitary cell division which results in the formation of a tumor. The mutation of the gene controls and manages the rate of chemical signals within the pituitary cells which signals a permanent secretion of growth hormone. With this knowledge, researchers are taking it one step further and intensively studying the disordered cell growth.

Published on August 9th of 2011, the American Association of Clinical Endocrinologists (AACE) has made updates to medical guidelines for the treatment of acromegaly. New therapy guidelines have been researched and concluded that somatostatin analog and growth hormone receptor agonists should be used in combination with each other. The combinations have been shown to efficiently balance and bring back to normal the chemical hormone levels; potentially this has become a more cost effective way of managing acromegaly considering only taking medications and not having surgery or radiation therapy.

Recent research on the Gamma Knife radiosurgery proved to be successful after the world’s tallest man stopped growing after receiving the surgery. In May 2010, Sultan Kosen of Turkey was treated for acromegaly at the University of Virginia Medical Center. The Gamma Knife radiosurgery is a non-invasive procedure that targets a specific spot on the patient’s body and delivers a very concentrated beam of radiation which is guided by MRI. It took about three months after receiving this treatment that Kosen stopped growing. Due to the research done at the UVA, they were able to help Sultan Kosen and potentially save his life.

Charities/Support Groups:

  • [http://www.AcromegalyInfo.com]  : This website provides a clear explanation of the causes, symptoms and diagnosis of acromegaly. Through this website, one with acromegaly can learn how to manage and live with this disorder. The website provides tips on building strong relationships with your healthcare team and what questions to ask your provider. There is also a form to fill out to receive more updates through personal e-mail and has some material that can be downloaded with some commonly asked questions. There is a portion of the website dedicated to healthcare professionals to help detect, treat and collaborate disease management.

[DIRECT LINK: http://www.acromegalyinfo.com/patient/understanding/index.jsp?site=PC000008&irmasrc=SDSWB0033&source=01030]

  • [http://www.stayclassy.org] : This is a unique website that is dedicated to helping individuals set up their own non-profit online fundraisers. Through this website, there is an ‘Acromegaly Community’ where you can support people who are affected by acromegaly. There is a tab to learn about events, campaigns and different projects. Currently, there are 82 supporters in which $4,097 has been raised. There are also links to learn how to start your own fundraiser.

[DIRECT LINK: http://www.stayclassy.org/charity/acromegaly-community/c6869]

  • [http://www.dailystrength.org] : Daily Strength is a website which is more focused on forums and support groups rather than charities or information pertaining acromegaly. People who subscribe to this website are able to post and comment on the forum. Questions range from muscle spasms, diagnostic tests to acute pituitary issues.

[DIRECT LINK: http://www.dailystrength.org/c/Acromegaly/support-group]

  • If you prefer to talk with someone directly, here are some phone numbers for support group agencies
    • Pituitary Network Association: (805) 499/9973
    • The Hormone Foundation: (800) 467/6663

Sources:

  1. http://health.howstuffworks.com/human-body/parts/what-does-pituitary-gland-do.htm
  2. http://www.helpfulhealthtips.com/acromegaly/
  3. http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001364/
  4. http://www.mayoclinic.com/health/acromegaly/DS00478/DSECTION=causes
  5. http://www.emedicinehealth.com/acromegaly/article_em.htm
  6. http://www.rightdiagnosis.com/a/acromegaly/prevalence.htm
  7. http://endocrine-system.emedtv.com/acromegaly/acromegaly-research.html
  8. http://emedicine.medscape.com/article/925446-overview#showall
  9. http://www.news-medical.net/news/20110809/New-Acromegaly-clinical-practice-guidelines.aspx
  10. http://www.news-medical.net/news/20120313/Worlds-tallest-man-appears-to-have-stopped-growing-after-treatment-at-UVA.aspx

Glomerulonephritis

March 16, 2012

Caleb Schneider

Every day your kidneys filter 200 liters of blood, removing 2 liters of toxins, wastes, and water.  The structures that do all the work are called nephrons.  In each kidney there are millions of nephrons.  Each nephron contains a group of blood vessels called a glomerulus.  Inflammation of the glomeruli is known as glomerulonephritis (GN), which causes blood and proteins to be allowed to pass into the urine.  There are several conditions that can cause glomerulonephritis, but many time the cause is unknown.

There are many forms of glomerulonephritis and they are generally categorized as non-proliferative and proliferative.  All of them are characterized by inflammation and damage of glomeruli.  Types of non-proliferative GN include Minimal change GN, Focal Segmental Glomerulosclerosis, and Membranous GN.  Proliferative forms of GN are IgA nephropathy, Membranoproliferative GN, Post-infectious GN, and Rapidly Progressive GN which is further divided into two categories which are Goodpasture’s Syndrome and Vasculitic disorders which also branch into Wegeners Granulomatosis and Microscopic Polyangiitis.

Non-proliferative GN

Minimal change GN

  • Cause is currently unknown but can be related to allergic reactions, NSAID use, tumors, vaccinations and viral infections.
  • Symptoms include swelling, weight gain, poor appetite, and foamy urine.
  • Treatments include corticosteroids which can cure the disease, especially in children, cytotoxic therapy is also useful when steroids do not work, and swelling can be treated with ACE inhibitors, blood pressure control, and diuretics.
  • Prognosis is usually very good, especially for children, but relapses can occur.

Focal Segmental Glomerulosclerosis

  • “Focal Segemental” means that some of the glomeruli are damaged but only a part of them are damaged, as seen in the image below.
  • Cause is usually unknown but can be caused by genetic mutations, HIV, or Reflux nephropathy, heroin use, obesity, or sickle cell disease.
  • Symptoms include swelling, weight gain, poor appetite, and foamy urine.
  • Treatment generally includes antibiotics, anti-inflammatory drugs, dialysis, restricted diet to reduce salt, protein, and lipid levels, vitamin D supplements, medicine to treat high blood pressure, high blood cholesterol, and high triglyceride levels, and kidney transplant.
  • Focal Segmental Glomerulosclerosis will develop into chronic kidney failure in more than half of people with the disease.

Membranous GN also known as Membranous nephropathy

  • Caused by the thickening of the glomerular basement membrane, which causes it to function improperly
  • Idiopathic in nature but can be linked to Hepatitis B, malaria, syphilis, endocarditis, toxins including gold and mercury Penicillinamine, trimethadioneSystemic lupus erythematosus, and other autoimmune disorders.
  • Symptoms include edema, fatigue, foamy urine, poor appetite, weight gain, and excessive urination.
  • The focus of treatment is to minimize symptoms and slow the progression of the disease.  That is done by controlling blood pressure by limiting salt, protein, and cholesterol intake and can be in conjunction medications.  If the disease is chronic, Vitamin D supplements may need to be given.
  • Depending on protein loss, prognosis will vary, but according to PubMed Health, 20% of patients that develop kidney damage will progress to end-stage renal failure.

Proliferative GN

IgA Nephropathy also known as Berger’s Disease

  • Occurs when too much IgA accumulates in the kidneys and causes inflammation and damage of the glomeruli.
  • People of Caucasian and Asian ethnicity are at highest risk to develop this diseas as well as those with a family history of IgA nephropathy or Henoch Schonlein purpura. Occasionally appears 24-48 hours after upper respiratory tract infection and can affect people of any age.
  • Symptoms include bloody urine that starts during or shortly after repiratory infection, swelling of hands and feet, and symptoms of chronic kidney disease such as appetite loss, fatigue, nausea, weight loss, excessive thirst, shortness of breath, and swelling.
  • Test to confirm diagnosis include blood urea nitrogen (BUN), creatinine blood test, kidney biopsy, urinalysis, and urine immunoelectrophoresis
  • Treatment, as with other GN disease, is to relieve symptoms and delay end-stage renal failure.  That is achieved by controlling blood pressure with or without medication and restricted diet, corticosteroids or other immunosuppressents and fish oil.  Many patients will need to be treated for chronic kidney disease and require dialysis
  • Almost a quarter of patients with Berger’s disease will develop end-stage renal failure within 25 years.  Prognosis is variable, with many cases progress very slow, if at all.

Post-infectious GN or post-streptococcal GN

  • Occurs after an infection of certain streptococcal bacteria strains.  Infections do not occur in the kidney but none the less cause the glomeruli to become inflammed.
  • Symptoms include decreased urine output, rust-colored urine, edema, blood in the urine, and joint pain and stiffness.
  • Tests that can be done to help diagnose include, anti-DNase B, Serum ASO, Serum complement levels, urinalysis, and kidney biopsy.
  • Treatments for post-infective GN are not specific to the disease and include antibiotics to get rid of any remaining streptococcal bacteria, blood pressure medicine and diuretics.
  • Prognosis is generally good except a small percentage can develop chronic kidney failure and may require dialysis or a transplant.
Membranoproliferative GN
  • There are 2 forms of membranoproliferative GN, type I and II.  Type II is less common and gets worse faster than type I.
  • The cause can be from autoimmune diseases, certain cancers such as leukemia and lymphoma, and infections such as hepatitis B and C, endocarditis, and malaria.
  • Symptoms include blood in urine, cloudy urine, dark, urine, decreased urine volume, edema, and mental status changes like decreased alertness.
  • Tests to confirm diagnosis include BUN, creatinine, serum complement C3 nephritic factor, serum complement levels, urinalysis, and urine protein levels.  A kidney biopsy can also be used to diagnose membranoproliferative GN.
  • Treatments include the typical diet change with GN and medications.
  • Membranoproliferative GN gradually worsens, which results in chronic kidney failure.
Rapidly Progressive GN also known as Cresentic GN
  • Any type of GN can become Rapidly Progressive GN.
  • Certain types of GN only present as Rapidly Progressive GN which are Goodpasture’s syndrome and the vasculitic disorders Wegener’s granulomatosis and microscopic polyangiitis.
  • They are classified as Rapidly Progressive GN because kidney failure rapidly progressive over the course of a few weeks.
Goodpasture’s Syndrome
  • Goodpasture’s Syndrome is an autoimmune disorder chacterized by the body building anti-glomerular basement membrane antibodies.  These antibodies attack collagen in the persons alveoli in the lungs and the glomeruli in the kidneys.  The attacks cause bleeding in the lungs and inflammation of the glomeruli, which impairs kidney function.
  • Early symptoms include fatigue, appatite loss, and weakness.  Symptoms specific to the lungs are coughing up blood, dry cough, and shortness of breath.  Symptoms seen in the kidneys are bloody urine, pain when urinating, nausea, vomiting, pale skin and edema.
  • Tests can be done to check for anti-glomerular basement membrane antibodies to confirm the diagnosis.  Other tests that can be done arterial blood gas, BUN, chest x-rays, creatinine, and lung and kidney biopsies.
  • The best treatment is plasmapheresis, which removes the antibodies from the blood.  Corticosteroids can also be given to suppress the immune system.  As with other forms of GN, blood pressure medication, such as ACE inhibitors and angiotensin receptor blockers, can be given to controll high blood pressure.
  • Early diagnosis is important for a better prognosis but many patients will need a kidney transplant or dialysis.
Vasculitic disorders
  • Vasculitic disorders that lead to glomerulonephritis are Wegener’s granulomatosis and microscopic polyangitis.  These disorders affect not just the kidneys but many other organs.
Wegener’s granulomatosis
  • Wegener’s causes inflammation of blood vessels impeding blood flow in the nose, ears, lungs, kidneys and other parts of the body.
  • The cause of Wegener’s granulomatosis is unknown but it is thought to be an autoimmune disorder caused by the antineutrophil cytoplasmic antibodies .
  • Classic kidney disease symptoms are present with Wegener’s granulomatosis such as loss of appetite and weight loss, as well as frequent sinusitis, chronic ear infection, chest pain, and weakness.
  • Doctors can check for antineutrophil cytoplasmic antibodies but the test can be negative for some patients.  Other tests include biopsies of afflicted areas and x-rays and CT scans.
  • Treatment calls for glucocorticoids, which slow down the immune system response.  Those medications can cause serious problems and other medication may be given to alleviate them.
  • Prognosis is good if treated but if left untreated death is certain.
Microscopic polyangitis (MPA)
  • MPA causes inflammation of small blood vessels in almost any organ system.
  • MPA is thought to be an autoimmune disease not unlike Wegener’s granulomatosis but caused by a different strand form of antineutrophil cytoplasmic antibodies.
  • According to the John Hopkin’s Vasculitis Center, the five most common symptoms of microscopic polyangiitis are kidney inflammation, weight loss, skin lesions, nerve damage, and fevers.
  • Blood test check for  antineutrophil cytoplasmic antibodies, among other proteins.  A CT scan may also be taken, along with nerve conduction tests.
  • Treatment is a steroid taken with a cytotoxic agent.
  • Prognosis depends on severity of condition and is better with early detection.  With treatment approximately 75% of individuals go into remission but relapses can occur.
INCIDENCE AND MORTALITY RATE

According to the United States Department of Health and Human services, in 2008, only 7,482 cases out of 112,476 new cases of End-Stage Renal Disease were a result of glomerulonephritis. There were 151.7 deaths per 1,000 patients with End-Stage Renal Disease in 2008.
 
RESEARCH, CHARITIES, AND SUPPORT GROUPS
 
 John Hopkins Medicine is currently compiling a data base of patient biopsy samples to help them determine the best treatment through analysis of said samples.  They are also working with other hospitals to study the effects of an immunosuppresant, Mycophenolate mofetil, for patients with IgA nephropathy. A simple internet search for glomerulonephritis support groups brings up a plethora of websites and organizations to help people cope their disease and share their stories of struggles and triumphs. Support groups, such as The IgA Nephropathy Support Group and the National Kidney Foundation, are also non-profit charities. 
 
RESOURCES
Pictures were from a Google search.