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Definition

Amyloidosis is a rare and potentially fatal disease that occurs when substances called amyloid proteins build up in your organs. Amyloid is an abnormal protein usually produced by cells in your bone marrow that can be deposited in any tissue or organ.

Amyloidosis can affect different organs in different people, and there are many types of amyloid. Amyloidosis frequently affects the heart, kidneys, liver, spleen, nervous system and gastrointestinal tract.

The exact cause of amyloidosis is unknown, and there’s no cure for amyloidosis. However, therapies are available to help you manage your symptoms and limit the production of amyloid protein.

Symptoms

Signs and symptoms of amyloidosis depend on the organs affected. The wide range of signs and symptoms often makes amyloidosis difficult to diagnose. You may even have no symptoms. Signs and symptoms may include:

• Swelling of your ankles and legs
• Weakness
• Weight loss
• Shortness of breath
• Numbness or tingling in your hands or feet
• Diarrhea
• Severe fatigue
• An enlarged tongue (macroglossia)
• Skin changes
• An irregular heartbeat
• Difficulty swallowing

Causes

Doctors classify amyloidosis into three major forms:

• Primary amyloidosis. This most common form of amyloidosis primarily affects your heart, kidneys, tongue, nerves and intestines. Primary amyloidosis isn’t associated with other diseases — except for multiple myeloma, a form of bone marrow cancer, in a minority of cases.

  The cause of primary amyloidosis is unknown, but doctors do know that the disease begins in your bone marrow. In addition to producing red and white blood cells and platelets, your bone marrow makes antibodies — proteins that protect you against infection and disease. After antibodies serve their function, your body breaks them down and recycles them. Amyloidosis occurs when cells in the bone marrow produce antibodies that can’t be broken down. These antibodies then build up in your bloodstream. Ultimately, they leave your bloodstream and can deposit in your tissues as amyloid, interfering with normal function.

• Secondary amyloidosis. This form occurs in association with chronic infectious or inflammatory diseases, such as tuberculosis, rheumatoid arthritis or osteomyelitis, a bone infection. It primarily affects your kidneys, spleen, liver and lymph nodes, though other organs may be involved. Treatment of the underlying disease may help stop this form of amyloidosis.
• Hereditary amyloidosis. As the name implies, this form of amyloidosis is inherited. This type often affects the nerves, heart and kidneys.

Risk factors

Anyone can develop primary amyloidosis, but certain factors place you at greater risk:

• Age. The majority of people who get amyloidosis are older than 40.
• Sex. Men are more likely than are women to develop the disorder.
• Other diseases. You may be at increased risk if you have a chronic infectious or inflammatory disease. Ten percent to 15 percent of people who have multiple myeloma — a form of bone marrow cancer — also develop amyloidosis.
• Family history. Some cases of amyloidosis are inherited.
• Kidney dialysis. If you have kidney disease requiring kidney dialysis, you may be at increased risk of dialysis-associated amyloidosis. This is because dialysis can’t remove large proteins from the blood, so large, abnormal proteins may build up and deposit in surrounding tissues. This condition is rare with modern dialysis techniques.

The amount of protein you eat plays no role in the development of the disease. Also, there’s no recognized link between amyloidosis and stress or occupation.

When to seek medical advice

If you persistently experience any of the signs or symptoms that may be associated with amyloidosis, see your doctor so that he or she can determine whether the underlying cause may be amyloidosis or another disease.

Tests and diagnosis

In order to rule out other conditions, your doctor may conduct a physical exam and a variety of tests, including blood and urine tests. Though blood or urine tests may detect an abnormal protein — which could indicate amyloidosis — the only definitive test for amyloidosis is a tissue biopsy.

Biopsy may involve several samples
In a tissue biopsy, your doctor uses a needle to remove a small sample of tissue. If your doctor suspects that you have systemic amyloidosis — meaning it affects several parts of your body rather than just one organ — the biopsy may be taken from your abdominal fat, bone marrow or rectum. The sample is then examined under a microscope in a laboratory to check for signs of amyloid. These biopsies are conducted in an outpatient setting with a numbing medication (local anesthetic).

Occasionally, tissue samples may be taken from other parts of your body, such as your liver or kidney, to help diagnose the specific organ affected by amyloidosis. These procedures may require hospitalization.

Complications

The severity of amyloidosis depends on which organs the amyloid deposits affect. Potentially life-threatening situations include kidney failure and congestive heart failure:

• Kidney damage. When amyloidosis affects your kidneys, their filtering system is damaged, causing protein to leak from your blood into your urine. When large amounts of protein leave your bloodstream and appear in your urine, the loss of protein from your blood permits more fluid to leak out of your capillary blood vessels. This, along with retention of sodium, can cause your feet, ankles and calves to swell (edema). Ultimately, damage to the kidneys’ filtering system inhibits your kidneys’ ability to remove waste products from your body, which may progress to kidney failure.
• Heart damage. When amyloidosis affects your heart, the most common symptom is shortness of breath, even with the slightest exertion. You may find it difficult to climb a flight of stairs or walk long distances without stopping to rest. When amyloid protein builds up in your heart, it reduces your heart’s ability to fill with blood in between heartbeats. This means less blood is pumped with each beat. Your heart will have difficulty keeping up with your body’s demand for blood during exertion. And when amyloidosis affects the electrical system of your heart, this may disturb your heart’s rhythm.
• Nervous system damage. Another potential complication of amyloidosis is disruption of your nervous system function. In about 25 percent of people with amyloidosis, this may include carpal tunnel syndrome — characterized by pain, numbness or tingling of the fingers. Disruption of another area of your nervous system might cause numbness or a lack of feeling in your toes or soles of your feet, or a burning sensation in these areas due to nerve infiltration.

  If amyloid deposits affect the nerves that control your bowel function, you may experience periods of alternating constipation and diarrhea. Sometimes the condition affects nerves that control blood pressure, and you may experience dizziness or near fainting when standing too quickly as a result of a drop in your blood pressure.

Treatments and drugs

Though there’s no cure for amyloidosis, treatment may help manage signs and symptoms and limit further production of amyloid protein.

Treating primary systemic amyloidosis
Researchers are studying several therapies to determine their place in the treatment of amyloidosis. Ask your doctor whether these treatments are appropriate for you. For primary systemic amyloidosis, some of these include:

• Peripheral blood stem cell transplantation. Peripheral blood stem cell transplantation involves using high-dose chemotherapy and transfusion of previously collected immature blood cells (stem cells) to replace diseased or damaged marrow. These cells may be your own (autologous transplant) or from a donor (allogeneic transplant). Autologous transplant is the preferred approach.
• Medicines. Therapies include melphalan (Alkeran, Alkeran IV), a chemotherapy agent also used to treat certain types of cancer, and dexamethasone, a corticosteroid used for its anti-inflammatory effects. Researchers are investigating other types of chemotherapy regimens for amyloidosis. Several medications that are used in the treatment of multiple myeloma are being tested for their ability to inhibit amyloidosis. These include bortezomib (Velcade), thalidomide (Thalomid), and a thalidomide derivative called lenalidomide (Revlimid). Your doctor may be aware of clinical trials available to you.

Well-balanced nutrition is important to provide your body with an adequate energy supply.

Treating secondary amyloidosis
If you have secondary amyloidosis, the primary goal of therapy is to treat the underlying condition — for example, taking an anti-inflammatory medication for rheumatoid arthritis.

Treating hereditary amyloidosis
For hereditary amyloidosis, one possible therapy may be liver transplantation because the protein that causes this form of amyloidosis is made in the liver.

Treating complications
Because amyloidosis can cause a number of complications, you may also need treatment — such as a special diet — for those specific conditions, based on your signs and symptoms and affected organs.

For example, if amyloidosis affects your heart or kidneys, you may be asked to follow a low-salt diet to control fluid retention. Or your doctor may prescribe diuretics and other medications. In some cases, your doctor might prescribe medication for pain control.

Lifestyle and home remedies

If you feel short of breath, take a rest. Although you’ll need to avoid strenuous activities, you may be able to continue normal daily activities, like going to work. Talk to your doctor about what’s an appropriate level of activity for you.

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Definition

Transient global amnesia is a sudden, temporary episode of memory loss that can’t be attributed to a more common neurological condition, such as epilepsy, transient ischemic attack, stroke or head injury. During an episode of transient global amnesia, your recall of recent events simply vanishes, so you can’t remember where you are or how you got there. You may also draw a blank when asked to remember things that happened a day, a month or even a year ago. You do remember who you are, and you recognize family members and others you have known for a long time, but that knowledge doesn’t make your memory loss any less disturbing.

Transient global amnesia would be even more distressing if it recurred more often or lasted longer than it does. The condition is rare to start with, and among the few who do have one episode, a second episode is uncommon. Also, episodes of transient global amnesia last only six hours, on average — although an episode of any length is frightening to witness or experience.

When an episode of transient global amnesia is over, you remember nothing that happened while your memory was impaired, and you might not recall the hours beforehand. Otherwise, though, your memory is fine.

Symptoms

Transient global amnesia is identified by its main symptom, which is the inability to recall the recent past. Once that symptom is confirmed, ruling out other possible causes of amnesia is important.

Diagnostic criteria
The criteria for a diagnosis of transient global amnesia are:

• Sudden onset of memory loss, verified by a witness
• Retention of personal identity despite memory loss
• Normal cognition (ability to recognize and name familiar objects and follow simple directions, for example)
• Absence of signs indicating damage to a particular area of the brain (limb paralysis, involuntary movement or impaired word recognition, for example)
• Duration of no more than 24 hours
• Gradual return of memory
• No evidence of seizures during the period of amnesia
• No history of active epilepsy or recent head injury

Additional signs and symptoms
These signs and symptoms sometimes accompany the chief symptom, memory loss.

• Headache
• Nausea
• Vomiting
• Dizziness
• Chills or flushing
• Fear of dying
• Pins-and-needles sensation
• Cold hands and feet
• Powerful expression of emotion
• Trembling
• Sweating
• Chest or neck pain
• Visual disturbance
• Racing heartbeat

Causes

About half of all transient global amnesia episodes start just after a physically or emotionally stressful incident. Among the triggering events commonly reported are:

• Sudden immersion in cold or hot water
• Strenuous physical activity
• Sexual intercourse
• Medical procedures, such as angiography or endoscopy
• Acute emotional distress, as might be provoked by bad news, conflict or overwork

The underlying cause of transient global amnesia is unknown. The incidence of migraine may be higher than can be explained by chance among those affected by transient global amnesia, suggesting that similar processes may be involved in both conditions. Compression of the large veins that empty oxygen-depleted blood from the brain and arms back into the heart may play a role as well. Many of the physical stresses experienced just before an episode of transient global amnesia result in compression of these veins.

Risk factors

Interestingly, high blood pressure and high cholesterol — which are closely linked to strokes — are not risk factors for transient global amnesia. Your sex doesn’t seem to affect your risk, either. Transient global amnesia affects about as many men as it does women.

The clearest risk factors are:

• Age. People between the ages of 56 and 75 have a higher risk of transient global amnesia than do younger or older adults, and the condition very rarely occurs in children.
• History of migraines. If you have migraines, your risk of transient global amnesia is significantly higher than that of someone without migraines. The link appears to be strongest before age 56.

When to seek medical advice

Transient global amnesia may be frightening, but it isn’t dangerous. Because your sense of social propriety and instinct for self-preservation aren’t impaired, you’re not likely to get into a dangerous situation.

But there’s no easy way to distinguish transient global amnesia from the life-threatening conditions that can also cause sudden memory loss. In fact, sudden amnesia is much more likely to be caused by a stroke or a seizure than by transient global amnesia. For that reason, anyone who quickly goes from normal awareness of unfolding reality to confusion about what just happened requires immediate medical attention.

Someone experiencing memory loss may be too disoriented to call an ambulance. Don’t hesitate to call one yourself if someone you know suddenly appears disoriented.

Tests and diagnosis

Diagnosis of transient global amnesia rests on excluding more serious conditions — stroke, seizure or head injury, for example — that can cause the same type of memory loss.

The process begins with a neurological exam, checking your reflexes, muscle tone, muscle strength, sensory function, gait, posture, coordination and balance. Your doctor may also ask questions to test your thinking, judgment and memory. By checking your knowledge of general information — such as the name of the current president — and assessing your ability to recall a random list of words, the doctor can determine the extent of memory loss.

Diagnostic tests
The workup for acute memory loss also includes tests to detect abnormalities in the brain’s electrical activity and circulation. The most common of these tests are painless and take less than two hours each.

• Electroencephalogram (EEG). An EEG records the electrical activity of your brain via electrodes affixed to your scalp. People with epilepsy often have changes in their brain waves, even when they’re not having a seizure.

  To prepare for an EEG, avoid elaborate hair styling, metallic hair spray or greasy hair dressing. Refrain from caffeine for six hours before the test. The procedure itself is painless and usually lasts about 30 minutes. However, it can take as long as an hour to place the electrodes on your scalp.

• Computerized tomography (CT) scan. Using special X-ray equipment, CT machines obtain images from many different angles and join them together to show cross-sectional images of your brain and skull. CT scans can reveal abnormalities in brain structure, including narrowed, overstretched or broken blood vessels and past strokes.

  To prepare for a CT scan of your head, you should remove such things as earrings, eyeglasses, dentures and hairpins. You may need to have an intravenous (IV) line inserted if your test requires the injection of a contrast material — which makes abnormalities easier to see. During the test, you will lie on a table that slides into the CT machine.

Complications

Transient global amnesia has no direct complications, but it can cause emotional distress. If you have an episode, the gap in your memory can be unsettling, and you’re likely to worry about a recurrence. Also, a symptom as dramatic as memory loss often heralds a serious underlying disease. Transient global amnesia is an exception, but it can be hard to let go of the fear that you actually had a tumor or stroke. If you need reassurance, ask your doctor to go over the results of your neurological exam and diagnostic tests with you. A counselor or psychotherapist can help you deal with persistent anxiety. Importantly, transient global amnesia is not a risk factor for stroke.

Treatments and drugs

No treatment is needed for transient global amnesia. It’s self-limited and has no confirmed after-effects.

Prevention

Since the cause of transient global amnesia is unknown and the rate of recurrence is low, the effectiveness of preventive measures has been difficult to demonstrate. Some doctors recommend daily aspirin, on the theory that reduced circulation is the cause.

If your episode of transient global amnesia followed a particular activity, such as a strenuous workout or a vigorous swim in a chilly lake, steer clear of that and similar activities.

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Definition

Compelling books, movies and plays often are enjoyable because they allow you to escape from yourself for a short while. As the story draws to a close, you can savor the characters’ experiences while slowly allowing thoughts of your own life to trickle back into consciousness. Getting “lost” in this way is pleasurable and healthy and allows you to return to reality refreshed.

People with dissociative disorders chronically escape their reality in involuntary, unhealthy ways ranging from suppressing memories to assuming alternate identities. The patterns of dissociative disorders usually develop as a reaction to trauma and function to keep difficult memories at bay. Up to 7 percent of the U.S. population may experience a dissociative disorder in their lifetime.

Treatment for dissociative disorders may include psychotherapy, hypnosis and medication. Although the course of therapy can be difficult, many people with dissociative disorders are able to learn new ways of coping and lead healthy, productive lives.

Symptoms

There are four major dissociative disorders:

• Dissociative amnesia
• Dissociative identity disorder
• Dissociative fugue
• Depersonalization disorder

Symptoms common to all types of dissociative disorders include:

• Memory loss (amnesia) of certain time periods, events and people
• Mental health problems, including depression and anxiety
• A sense of being detached from yourself (depersonalization)
• A perception of the people and things around you as distorted and unreal (derealization)
• A blurred sense of identity

Each of the four major dissociative disorders is characterized by a distinct mode of dissociation. Dissociative disorder symptoms may include:

• Dissociative amnesia. Memory loss that’s more extensive than normal forgetfulness and can’t be explained by a physical or neurological condition is the hallmark of this condition. Sudden-onset amnesia following a traumatic event, such as a car accident, happens infrequently. More commonly, conscious recall of traumatic periods, events or people in your life — especially from childhood — is simply absent from your memory.
• Dissociative identity disorder. This condition, formerly known as multiple personality disorder, is characterized by “switching” to alternate identities when you’re under stress. In dissociative identity disorder, you may feel the presence of one or more other people talking or living inside your head. Each of these identities may have their own name, personal history and characteristics, including marked differences in manner, voice, gender and even such physical qualities as the need for corrective eyewear. There often is considerable variation in each alternate personality’s familiarity with the others. People with dissociative identity disorder typically also have dissociative amnesia.
• Dissociative fugue. People with this condition dissociate by putting real distance between themselves and their identity. For example, you may abruptly leave home or work and travel away, forgetting who you are and possibly adopting a new identity in a new location. People experiencing dissociative fugue typically retain all their faculties and may be very capable of blending in wherever they end up. A fugue episode may last only a few hours or, rarely, as long as many months. Dissociative fugue typically ends as abruptly as it begins. When it lifts, you may feel intensely disoriented, depressed and angry, with no recollection of what happened during the fugue or how you arrived in such unfamiliar circumstances.
• Depersonalization disorder. This disorder is characterized by a sudden sense of being outside yourself, observing your actions from a distance as though watching a movie. It may be accompanied by a perceived distortion of the size and shape of your body or of other people and objects around you. Time may seem to slow down, and the world may seem unreal. Symptoms may last only a few moments or may wax and wane over many years.

Causes

Dissociative disorders usually develop as a mechanism for coping with trauma. The disorders most often form in children subjected to chronic physical, sexual or emotional abuse or, less frequently, a home environment that is otherwise frightening or highly unpredictable.

Personal identity is still forming during childhood, and during these malleable years a child is more able than is an adult to step outside herself or himself and observe trauma as though it’s happening to a different person. A child who learns to dissociate in order to endure an extended period of his or her youth may reflexively use this coping mechanism in response to stressful situations throughout life.

Rarely, adults may develop dissociative disorders in response to severe trauma.

Risk factors

People who experience chronic physical, sexual or emotional abuse during childhood are at greatest risk of developing dissociative disorders. Children and adults who experience other traumatic events, including war, natural disasters, kidnapping, torture and invasive medical procedures also may develop these conditions.

When to seek medical advice

If you or someone you love has significant, unexplained memory loss or experiences a dramatic change in behavior when under stress, talk to a doctor. A chronic sense that your identity or the world around you is blurry or unreal also may be caused by a dissociative disorder. Effective treatment is available for these conditions. Seek medical help.

If you or your child experiences abuse or another traumatic situation, talk to a doctor as soon as possible. Early intervention and counseling may help prevent the formation of dissociative disorders.

Tests and diagnosis

Doctors diagnose dissociative disorders based on a review of your symptoms and your personal history. As part of your evaluation, your doctor may perform tests to rule out physical conditions — including head injuries, certain brain diseases, sleep deprivation and intoxication — that can cause symptoms such as memory loss and a sense of unreality. If your doctor rules out physical causes, he or she will likely refer you to a mental health professional for an in-depth interview.

To help diagnose dissociative identity disorder, some doctors use medication or hypnosis. These aids may help your doctor identify alternate personalities or may help you describe repressed memories that played a role in the development of dissociative patterns.

Complications

People with a dissociative disorder are at increased risk of complications that include:

• Self-mutilation
• Suicide attempts
• Sexual dysfunction, including sexual addiction or avoidance
• Alcoholism and substance abuse
• Depression
• Sleep disorders, including nightmares, insomnia and sleepwalking
• Anxiety disorders
• Eating disorders
• Severe headaches

Dissociative disorders are also associated with significant difficulties in relationships and at work. People with these conditions often aren’t able to cope well with emotional or professional stress, and their dissociative reactions — from tuning out to disappearing — may distress loved ones and cause colleagues to view them as unreliable.

Treatments and drugs

Psychotherapy is the primary treatment for dissociative disorders. This form of therapy, also known as talk therapy, counseling or psychosocial therapy, involves talking about your disorder and related issues with a mental health professional. Your therapist will work to help you understand the cause of your condition and to form new ways of coping with stressful circumstances.

Psychotherapy for dissociative disorders often involves techniques, such as hypnosis, that help you remember and work through the trauma that triggered your dissociative symptoms. The course of your psychotherapy may be long and painful, but this treatment approach often is very effective in treating dissociative disorders.

Other dissociative disorder treatment may include:

• Creative art therapy. This type of therapy uses the creative process to help people who might have difficulty expressing their thoughts and feelings. Creative arts can help you increase self-awareness, cope with symptoms and traumatic experiences, and foster positive changes. Creative art therapy includes art, dance and movement, drama, music and poetry.
• Cognitive therapy. This type of talk therapy helps you identify unhealthy, negative beliefs and behaviors and replace them with healthy, positive ones. It’s based on the idea that your own thoughts — not other people or situations — determine how you behave. Even if an unwanted situation has not changed, you can change the way you think and behave in a positive way.
• Medication. Although there are no medications that specifically treat dissociative disorders, your doctor may prescribe antidepressants, anti-anxiety medications or tranquilizers to help control the mental health symptoms associated with dissociative disorders.

Prevention

Children who are physically, emotionally or sexually abused are at increased risk of developing mental health disorders, including dissociative disorders. If stress or other personal issues are affecting the way you treat your child, seek help. Talk to a trusted person such as a friend, your doctor or a leader in your faith community. Ask for his or her help locating resources such as parenting support groups and family therapists. Many churches and community education programs offer parenting classes that also may help you learn a healthier parenting style.

If your child has been abused or has experienced another traumatic event, see a doctor immediately. Your doctor can refer you to mental health professionals who can help your child recover and adopt healthy coping skills.

Alternative medicine

Your therapist may recommend using hypnosis, which is sometimes referred to as hypnotherapy or hypnotic suggestion, as part of your treatment for a dissociative disorder.

Hypnosis creates a state of deep relaxation and quiets the mind. When you’re hypnotized, you can concentrate intensely on a specific thought, memory, feeling or sensation while blocking out distractions. Because you’re more open than usual to suggestions while under hypnosis, there is some controversy that therapists may unintentionally “implant” false memories by suggestion. However, when conducted under the care of a trained therapist, hypnosis is generally safe as a complementary treatment method.

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Definition

Amnesia refers to a loss of the everyday sense of memory responsible for knowing facts, events, information and experiences. Also called amnestic syndrome, this memory loss can’t be accounted for by problems with attention, perception, language, reasoning or motivation. People with amnesia typically are lucid and maintain a sense of self, but they face severe difficulties in learning new information and forming new memories. They may not be able to recall memories of past experiences and information.

Though a common plot device in movies and television, amnesia occurs quite rarely in real life. It can result from damage to parts of the brain that are vital for memory processing and learning. A more common cause of memory impairment in older people is mild cognitive impairment (MCI), a transition stage between the cognitive (thinking) changes of normal aging and more serious problems caused by dementia or Alzheimer’s disease.

Unlike a temporary episode of memory loss (transient global amnesia), amnestic syndrome can be permanent. Medications or other medical treatment can’t restore memory loss in amnesia. But techniques for enhancing day-to-day memory and social and psychological support can help people with amnesia and their families cope.

Symptoms

The two main features of amnesia are:

• Impaired ability to learn new information following the onset of amnesia (anterograde amnesia)
• Impaired ability to recall past events and previously familiar information (retrograde amnesia)

Most people with amnestic syndrome have problems with short-term memory — they can’t retain new information. Many also have some degree of impaired memory recall. Recent memories are most likely to be lost, while more remote or deeply ingrained memories may be spared. Someone may recall experiences from childhood or know the names of past presidents, but not be able to name the current president or remember what month it is or what was for breakfast.

The memory loss doesn’t affect a person’s intelligence, general knowledge, awareness, attention span, judgment, personality or identity. People with amnestic syndrome usually can understand written and spoken words and can learn skills such as bike riding or piano playing. They do well on tests of attention and reasoning. They often understand that they have a memory disorder.

Amnesia isn’t the same as dementia. Dementia includes memory loss, but it also involves other significant cognitive problems that lead to a decline in the ability to carry out daily activities. A pattern of forgetfulness is also a symptom of mild cognitive impairment, but the memory problems in MCI aren’t as severe as those experienced in amnesia.

Additional signs and symptoms
Depending on the cause of the amnesia, other signs and symptoms may include:

• False recollections (confabulation), either completely invented or made up of genuine memories misplaced in time
• Neurological problems such as uncoordinated movements or tremors
• Confusion or disorientation

Causes

Normal memory function involves many parts of the brain, and any disease or injury that affects the brain can interfere with the intricacies of memory. Amnesia can result from damage to brain structures that form the limbic system, which controls your emotions and memories. These structures, including the hippocampus and thalamus, lie deep within your brain on the underside of the temporal lobe.

An amnestic syndrome caused by brain injury or damage is known as neurological or organic amnesia. Possible causes of neurological amnesia include:

• Stroke
• Brain inflammation (encephalitis) resulting from infection with a virus such as herpes simplex virus (HSV) or as an autoimmune reaction to cancer somewhere else in the body (paraneoplastic limbic encephalitis, or PLE)
• Lack of adequate oxygen in the brain (for example, from heart attack, respiratory distress or carbon monoxide poisoning)
• Bleeding between the brain and skull (subarachnoid hemorrhage)
• Long-term alcohol abuse leading to thiamin (vitamin B-1) deficiency (Wernicke-Korsakoff syndrome)
• Tumors in areas of the brain that control memory
• Certain seizure disorders
• Electroconvulsive therapy (ECT)

Head injuries, such as those sustained in car accidents, can lead to confusion and problems remembering new information, especially in the early stages of recovery — but usually don’t cause severe amnesia.

Another rare type of amnesia, called psychogenic or dissociative amnesia, stems from emotional shock or trauma, such as being the victim of a violent crime. In this disorder, a person may lose personal memories and autobiographical information for a few hours to days or longer.

Risk factors

The chance of developing amnesia might increase if you’ve experienced:

• Brain surgery, head injury or trauma
• Stroke
• Alcohol abuse

When to seek medical advice

Anyone who experiences unexplained memory loss, a head injury, confusion or disorientation requires immediate medical attention. A person with amnesia may not be able to identify his or her location or have the presence of mind to seek medical care. If someone you know has symptoms of amnesia, don’t hesitate to help the person get medical attention.

Tests and diagnosis

To diagnose amnesia, a doctor will do a comprehensive evaluation to rule out other possible causes of memory loss, such as Alzheimer’s disease, dementia, depression or brain tumor. The evaluation starts with a detailed medical history. Because the person with memory loss may not be able to provide thorough information, family or other caregivers may be asked to take part in the interview.

The doctor will ask many questions to understand the memory loss. Issues that might be addressed include:

• Type of memory loss (Can the person remember recent events and remote events?)
• When the memory problems started and how they progressed
• Triggering factors, such as head injury, stroke or surgery
• Family history, especially of neurological disease
• Drug and alcohol use
• Other symptoms, such as confusion, language problems, personality changes or impaired ability to care for self
• History of seizures, headaches, depression or cancer

The physical examination may include a neurological exam to check reflexes, sensory function, balance and other physiological aspects of the brain and nervous system.

The doctor will test the person’s thinking, judgment, and recent and long-term memory. He or she will check the person’s knowledge of general information — such as the name of the current president — as well as personal information and past events. The memory evaluation can help determine the extent of memory loss and provide insights about what kind of help the person may need.

Diagnostic imaging tests — including magnetic resonance imaging (MRI), computerized tomography (CT) and electroencephalogram (EEG) — may be ordered to look for damage or abnormalities in the brain. Blood tests can check for infection, nutritional deficiencies or other issues.

Complications

Amnestic syndrome varies in severity and scope, but even mild amnesia takes a toll on daily activities and quality of life. The syndrome can cause problems at work, at school and in social settings. It may not be possible to recover lost memories. Some people with severe memory problems need to live in a supervised situation or extended care facility.

Treatments and drugs

Treatment for amnesia focuses on techniques and strategies to help make up for the memory problem. A person with amnesia may work with an occupational therapist to learn new information to replace what was lost, or to use intact memories as a basis for taking in new information. Memory training may also include a variety of strategies for organizing information so that it’s easier to remember and for improving understanding of extended conversation.

Many people with amnesia find it helpful to use a personal digital assistant (PDA), such as a Palm Treo, BlackBerry or iPhone. With some training and practice, even people with severe amnesia can use these electronic organizers to help with day-to-day tasks. For example, they can program the PDA to remind them about important events or to take medications. Low-tech memory aids include notebooks, wall calendars, pill minders and photographs of people and places.

No medications are currently available for treating most types of amnestic syndrome. Because Wernicke-Korsakoff syndrome involves a lack of thiamin, treatment includes replacing this vitamin and providing proper nutrition. Researchers are investigating several neurotransmitters involved in memory formation, which may one day lead to new treatments for memory disorders. But the complexity of the brain processes involved makes it unlikely that a single medication will be able to resolve memory problems.

Prevention

The root cause of most cases of amnesia is brain injury. To minimize your chance of a brain injury:

• Avoid excessive alcohol use
• Wear a helmet when bicycling and a seat belt when driving
• Treat brain infections quickly and aggressively
• Seek immediate medical treatment for a stroke or brain aneurysm

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Definition

Chagas disease is an inflammatory, infectious condition caused by a parasite and which is transmitted to humans through the feces of the infected reduvid bug.

Chagas disease is common in South America, Central America and Mexico, the primary home of the reduvid bug. Chagas disease has also spread to the southern United States in recent years.

Chagas disease, also called American trypanosomiasis, has two phases. During the acute phase, signs and symptoms are often mild. Left untreated, Chagas disease may become chronic, possibly resulting in serious heart and digestive problems.

Treatment focuses on killing the parasite and managing signs and symptoms. You can take steps to prevent the infection.

Symptoms

Chagas disease occurs in two phases: the acute phase and the chronic phase. Symptoms in either phase can range from mild to severe. Many people don’t experience symptoms until the chronic stage.

Acute phase
The acute phase of Chagas disease may be symptom-free. When signs and symptoms do occur, they are usually mild and may include:

• Redness and swelling at the site of infection, especially around your eye and eyelid
• Fever
• Fatigue
• Body aches
• Headache
• Loss of appetite
• Nausea, diarrhea or vomiting
• Swollen glands
• Enlargement of your liver or spleen

Chronic phase
The chronic phase of Chagas disease may occur 10 to 30 years after initial infection. In severe cases, Chagas disease symptoms may include:

• Irregular heartbeat
• Inflamed, enlarged heart (cardiomyopathy)
• Congestive heart failure
• Difficulty swallowing due to enlarged esophagus
• Abdominal pain or constipation due to enlarged colon

Causes

The cause of Chagas disease is the parasite Trypanosoma cruzi.

T. cruzi is transmitted to humans by various species of bloodsucking insects called “kissing bugs,” such as the reduvid bug. These insects become infected by T. cruzi when they ingest blood from an animal already infected with the parasite.

Reduvid bugs live primarily in mud, thatch or adobe huts in South America and Central America. They hide in cracks or crevices in the walls or roof during the day, then come out at night — often feeding on sleeping humans.

When infected reduvid bugs bite humans, they defecate — passing the T. cruzi parasites in their feces. The parasites can then enter your body through your eyes, mouth, a cut or scratch, or the wound from the reduvid bug’s bite. The parasites can be helped into these openings if you scratch or rub at the bite site.

You may also become infected from:

• Eating uncooked food contaminated with feces from infected reduvid bugs
• Being born to a woman infected with T. cruzi
• A blood transfusion containing infected blood
• An organ transplant containing infected blood
• Accidental transmission in a laboratory

Risk factors

The following factors may increase your risk of getting Chagas disease:

• Living in impoverished rural areas of Central America, South America and Mexico — rarely, cases of Chagas disease are acquired in the southern United States
• Living in a residence that contains reduvid bugs
• Receiving a blood transfusion or organ transplant from a person who carries the infection

It’s rare that travelers to the areas at risk in South America, Central America and Mexico contract Chagas disease. However, if you’re traveling to these areas for a significant period of time, take precautions to avoid infection with T. cruzi.

When to seek medical advice

See your doctor if you live in or have traveled to an area at risk of Chagas disease and you’re exhibiting the signs and symptoms of the condition, such as swelling at the infection site, fever, fatigue, body aches, rash and nausea.

Tests and diagnosis

Your doctor will conduct a physical exam, asking about your symptoms and any factors that put you at risk of Chagas disease.

If you have the signs and symptoms of Chagas disease, blood tests can confirm the presence of the T. cruzi parasite or the proteins that your immune system creates (antibodies) to fight the parasite in your blood.

If you’re diagnosed with Chagas disease, you’ll likely undergo additional tests to determine whether the disease has entered the chronic phase and caused heart or digestive complications. These tests may include:

• Electrocardiogram, a procedure that records the electrical activity of your heart
• Abdominal X-ray, a procedure that uses radiation to capture images of your stomach, intestines and colon
• Upper endoscopy, a procedure in which you swallow a thin, lighted tube (endoscope) that transmits images of your esophagus onto a screen

Complications

If Chagas disease progresses to the chronic phase, serious heart or digestive complications may occur. These may include:

• Heart failure. Heart failure occurs when your heart becomes so weak or stiff it can’t pump enough blood to meet your body’s needs.
• Enlargement of the esophagus (megaesophagus). This rare condition is caused by the abnormal widening (dilation) of your esophagus, which can result in difficulty with swallowing and digestion.
• Enlargement of the colon (megacolon). Megacolon occurs when your colon becomes abnormally dilated, causing abdominal pain, distension and severe constipation.

Treatments and drugs

Treatment for Chagas disease focuses on killing the parasite and managing signs and symptoms.

During the acute phase of Chagas disease, the prescription medications benznidazole and nifurtimox may be of benefit. Both drugs are available in the regions most affected by Chagas disease. In the United States, however, benznidazole is not available and nifurtimox is currently undergoing clinical trials. Nifurtimox is available from the Centers for Disease Control and Prevention when necessary.

Once Chagas disease is in the chronic phase, medications aren’t effective for curing the disease. Instead, treatment depends on the specific signs and symptoms:

• Heart-related complications. Treatment may include medications, a pacemaker or other devices to regulate your heart rhythm, surgery, or even heart transplant.
• Digestive-related complications. Treatment may include diet modification, medications, corticosteroids or, in severe cases, surgery.

Prevention

If you live in an area that increases your risk of Chagas disease, these steps can help you prevent infection:

• Avoid sleeping in a mud, thatch or adobe house, if possible. These types of residences are more likely to harbor reduvid bugs.
• Use netting over your bed when sleeping in thatch, mud or adobe houses.
• Use insecticides to remove insects from your residence.

Blood transfusions
If you need a blood transfusion, make sure the blood you get is tested for Chagas disease. In Central America and South America, blood donors are routinely screened for exposure to T. cruzi. In the United States, this is less common. However, due to the recent introduction of Chagas disease to the United States, the Food and Drug Administration has approved a test to screen blood donors for T. cruzi.

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Definition

Amenorrhea — the absence of menstruation — can happen during puberty or later in life. Primary amenorrhea describes a condition in which you haven’t had any menstrual periods by age 16. Secondary amenorrhea occurs when you were previously menstruating, but then stopped having periods. Pregnancy may be your first thought if you miss a period, but there are many possible explanations for absence of menstruation.

A sign, not a disease, amenorrhea seldom results from a serious condition. However, not knowing why menstruation has stopped can be stressful, and waiting for it to recur may feel like a lifetime.

But don’t hit the panic button. With a little investigation into your medical history and an accurate description of what you’re experiencing, you and your doctor can usually get to the root of the problem. Treating the underlying problem can resolve amenorrhea.

Symptoms

The main indication that you might have amenorrhea is that you don’t have menstrual periods. Here’s what to look for in primary and secondary amenorrhea:

• Primary amenorrhea. You have no menstrual period by age 16.
• Secondary amenorrhea. You have no periods for three to six months or longer.

Depending on the cause of amenorrhea, you might experience other signs or symptoms along with the absence of periods, such as milky nipple discharge, headache, vision changes, or excessive hair growth on your face and torso (hirsutism).

Causes

Primary amenorrhea
Primary amenorrhea affects less than 1 percent of adolescent girls in the United States. The most common causes of primary amenorrhea include:

• Chromosomal abnormalities. Certain chromosomal abnormalities can cause a premature depletion of the eggs and follicles involved in ovulation and menstruation.
• Problems with the hypothalamus. Functional hypothalamic amenorrhea is a disorder of the hypothalamus — an area at the base of your brain that acts as a control center for your body and regulates your menstrual cycle. Excessive exercise, eating disorders, such as anorexia, and physical or psychological stress can all contribute to a disruption in the normal function of the hypothalamus. Less commonly, a tumor may prevent your hypothalamus from functioning normally.
• Pituitary disease. The pituitary is another gland in the brain that’s involved in regulating the menstrual cycle. A tumor or other invasive growth may disrupt the pituitary gland’s ability to perform this function.
• Lack of reproductive organs. Sometimes problems arise during fetal development that lead to a baby girl being born without some major part of her reproductive system, such as her uterus, cervix or vagina. Because her reproductive system didn’t develop normally, she won’t have menstrual cycles.
• Structural abnormality of the vagina. An obstruction of the vagina may prevent visible menstrual bleeding. A membrane or wall may be present in the vagina that blocks the outflow of blood from the uterus and cervix.

Secondary amenorrhea
Secondary amenorrhea is much more common than primary amenorrhea. Many possible causes of secondary amenorrhea exist:

• Pregnancy. In women of reproductive age, pregnancy is the most common cause of amenorrhea. When a fertilized egg is implanted in the lining of your uterus, the lining remains to nourish the fetus and isn’t shed as menstruation.
• Contraceptives. Some women who take birth control pills may not have periods. When oral contraceptives are stopped, it may take three to six months to resume regular ovulation and menstruation. Contraceptives that are injected or implanted, such as Depo-Provera, also may cause amenorrhea as can progesterone-containing intrauterine devices, such as Mirena.
• Breast-feeding. Mothers who breast-feed often experience amenorrhea. Although ovulation may occur, menstruation may not. Pregnancy can result despite the lack of menstruation.
• Stress. Mental stress can temporarily alter the functioning of your hypothalamus — an area of your brain that controls the hormones that regulate your menstrual cycle. Ovulation and menstruation may stop as a result. Regular menstrual periods usually resume after your stress decreases.
• Medication. Certain medications can cause menstrual periods to stop. For example, antidepressants, antipsychotics, some chemotherapy drugs and oral corticosteroids can cause amenorrhea.
• Illness. Chronic illness may postpone menstrual periods. As you recover, menstruation typically resumes.
• Hormonal imbalance. A common cause of amenorrhea or irregular periods is polycystic ovary syndrome (PCOS). This condition causes relatively high and sustained levels of estrogen and androgen, a male hormone, rather than the fluctuating levels seen in the normal menstrual cycle. This results in a decrease in the pituitary hormones that lead to ovulation and menstruation. PCOS is associated with obesity; amenorrhea or abnormal, often heavy uterine bleeding; acne and sometimes excess facial hair.
• Low body weight. Excessively low body weight interrupts many hormonal functions in your body, potentially halting ovulation. Women who have an eating disorder, such as anorexia or bulimia, often stop having periods because of these abnormal hormonal changes.
• Excessive exercise. Women who participate in sports that require rigorous training, such as ballet, long-distance running or gymnastics, may find their menstrual cycle interrupted. Several factors combine to contribute to the loss of periods in athletes, including low body fat, stress and high energy expenditure.
• Thyroid malfunction. An underactive thyroid gland (hypothyroidism) commonly causes menstrual irregularities, including amenorrhea. Thyroid disorders can also cause an increase or decrease in the production of prolactin — a reproductive hormone generated by your pituitary gland. An altered prolactin level can affect your hypothalamus and disrupt your menstrual cycle.
• Pituitary tumor. A noncancerous (benign) tumor in your pituitary gland (adenoma or prolactinoma) can cause an overproduction of prolactin. Excess prolactin can interfere with the regulation of menstruation. This type of tumor is treatable with medication, but it sometimes requires surgery.
• Uterine scarring. Asherman’s syndrome, a condition in which scar tissue builds up in the lining of the uterus, can sometimes occur after uterine procedures, such as a dilation and curettage (D and C), Caesarean section or treatment for uterine fibroids. Uterine scarring prevents the normal buildup and shedding of the uterine lining, which can result in very light menstrual bleeding or no periods at all.
• Premature menopause. Menopause usually occurs between ages 45 and 55. If you experience menopause before age 40, it’s considered premature. The lack of ovarian function associated with menopause decreases the amount of circulating estrogen in your body, which in turn thins your uterine lining (endometrium) and brings an end to your menstrual periods. Premature menopause may result from genetic factors or autoimmune disease, but often no cause can be found.

When to seek medical advice

For primary or secondary amenorrhea, consult your doctor if:

• You’ve never had a menstrual period, and you’re age 16 or older
• You’ve previously menstruated, but have missed three or more periods in a row

Tests and diagnosis

Although amenorrhea rarely results from a life-threatening condition, it can encompass a complex set of hormonal problems. Finding the underlying cause can take time and may require more than one kind of testing.

First, your doctor may have you take a pregnancy test. Your doctor may also perform a pelvic exam to check for pregnancy or any problems with your reproductive organs. If you’re not pregnant, your doctor will perform a physical examination and ask about your medical history. In young women, this exam will include checking for signs and symptoms of changes that are normal to puberty.

The next step may include blood tests to check your hormone levels, for instance a thyroid function test or evaluation of your prolactin level. A progestin challenge test — in which you take a hormonal medication (progestogen) for seven to 10 days to trigger bleeding — may be another kind of test your doctor administers. Results from this test can tell your doctor whether your periods have stopped due to a lack of estrogen.

Depending on your signs and symptoms — and the result of any blood tests you’ve had — further testing may be needed. Imaging tests, such as computerized tomography, magnetic resonance imaging or ultrasound, can reveal pituitary tumors or structural abnormalities in your reproductive organs. Finally, laparoscopy or hysteroscopy — minimally invasive surgical techniques to view your internal organs — may sometimes be recommended.

Treatments and drugs

What type of treatment you need — if any — depends on what’s causing the amenorrhea. Your doctor may suggest that you make changes to your lifestyle depending on your weight, physical activity or stress level. If you have PCOS or athletic amenorrhea, your doctor may prescribe oral contraceptives to treat the problem. Amenorrhea caused by thyroid or pituitary disorders may be treated with medications.

Lifestyle and home remedies

The best way to avoid an interruption in your menstrual cycle is to maintain a healthy lifestyle:

• Make changes in your diet and exercise activity to achieve a healthy weight.
• Strive for a healthy balance in work, recreation and rest.
• Assess areas of stress and conflict in your life. If you can’t decrease stress on your own, ask for help from family, friends or your doctor.

Be aware of changes in your menstrual cycle and check with your doctor if you have concerns. Keep a record of when your periods occur. Note the date your period starts, how long it lasts and any troublesome symptoms you might experience.

Talk to your mother, sister or other close female relatives. Has anyone else in your family had a similar problem? Gathering this information can help your doctor determine what’s causing your amenorrhea.

Amenorrhea may cause anxiety, but by working with your doctor, you can determine the cause and find ways to regulate your cycle.

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Definition

The brain and eyes work together to produce vision. If the brain favors one eye — usually due to poor vision in the other eye — the weaker eye tends to wander inward or outward. Eventually, the brain may ignore the signals received from the weaker eye. This condition is known as lazy eye (amblyopia).

Lazy eye is the leading cause of decreased vision among children. And lazy eye is fairly common. Lazy eye affects about two to three of every 100 children, according to the National Eye Institute.

Lazy eye is typically detected during childhood. Often, conservative treatments such as corrective eyewear or eye patches can correct lazy eye. In some cases, lazy eye requires surgical treatment. Left untreated, lazy eye may lead to permanent vision impairment.

Symptoms

Lazy eye is characterized by an eye that wanders inward or outward. The eyes may not appear to work together. When the eyes aren’t aligned, poor depth perception is likely as well.

Although lazy eye is most common in just one eye, it’s possible for both eyes to be affected.

Causes

Anything that blurs a child’s vision or causes the eyes to cross may cause lazy eye.

The most common culprit is strabismus — an imbalance in the muscles responsible for positioning of the eyes, which can cause the eyes to cross in or turn out. The muscle imbalance prevents the eyes from tracking with each other.

Sometimes lazy eye is the result of an anatomic or structural abnormality, such as an abnormal central retina or a cloudy area in the lens of the eye (cataract). In other cases, an abnormal eye shape or a size difference between the eyes contributes to lazy eye.

Occasionally, a wandering eye is the first sign of an eye tumor.

Risk factors

Lazy eye tends to run in families. Lazy eye may be more likely among children who were born prematurely or those who have developmental delays.

When to seek medical advice

Vision checks are often a routine part of well-child checkups — especially if there’s a family history of crossed eyes, childhood cataracts or other eye conditions. For all children, a complete eye exam is usually recommended between ages 3 and 5. If you notice your child’s eye wandering at any time beyond the first few weeks of life, consult your child’s doctor for an evaluation. Depending on the circumstances, he or she may refer your child to a doctor who specializes in eye conditions (ophthalmologist).

Tests and diagnosis

Lazy eye is diagnosed with a thorough eye exam. The doctor will look for a wandering eye, as well as a difference in vision between the eyes or poor vision in both eyes. Special diagnostic tests aren’t usually needed.

Complications

Left untreated, lazy eye can cause permanent vision loss. In fact, lazy eye is the most common cause of single-eye vision impairment in young and middle-aged adults, according to the National Eye Institute.

Treatments and drugs

Ideally, lazy eye treatment begins in early childhood — when the complicated connections between the eye and the brain are forming. Depending on the cause and the degree to which your child’s vision is affected, treatment options may include:

• Corrective eyewear. If a condition such as nearsightedness, farsightedness or astigmatism is contributing to lazy eye, corrective glasses or contact lenses will likely be prescribed. Sometimes corrective eyewear is all that’s needed.
• Eye patches. To stimulate the weaker eye, your child may wear an eye patch over the stronger eye — often for two or more hours a day. This helps the part of the brain that manages vision develop more completely.
• Eyedrops. A daily or twice weekly drop of a drug called atropine can temporarily blur vision in the stronger eye. This will encourage use of the weaker eye.
• Surgery. If your child has crossed or outwardly deviating eyes, the eye muscles may need surgical repair. Droopy eyelids or cataracts may also need surgical intervention.

For most children with lazy eye, proper treatment improves vision within weeks to several months — and the earlier treatment begins, the better. Although research suggests that the treatment window extends through at least age 17, results are better when treatment begins in early childhood.

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Definition

Boy or girl? It’s one of the most common questions for new parents besides the baby’s weight and length. But what if the answer isn’t so obvious? Such is the case for newborns with ambiguous genitalia — a rare condition in which a newborn’s external genitals don’t appear to be clearly either male or female.

In ambiguous genitalia, the baby’s genitalia may not be well formed, or the baby may have general characteristics of both sexes.

Ambiguous genitalia can be upsetting to parents and other family, with the uncertainty involved and the social stigma attached to not knowing a child’s sex right away. While ambiguous genitalia can present a difficult situation, medical advances can help with the process of assigning a sex to your child, and surgery can help. Sometimes, despite the pressure to announce “girl” or “boy,” it’s best in the case of ambiguous genitalia to wait to make this important decision.

Symptoms

A newborn’s genitalia are quite small, and the idea of looking “normal” spans a wide range. Your medical team will likely be the first to recognize the signs of ambiguous genitalia soon after your baby is born. These signs vary from the more obviously apparent to the outwardly invisible.

Characteristics in genetic females
For genetic females, the baby’s genitals may take on the following characteristics:

• An enlargement of the clitoris, or what appears to be a small penis
• A concealment of the vagina because the midline groove has closed over

Characteristics in genetic males
For genetic males, the following characteristics may be present:

• Hypospadias — a condition in which the narrow tube that carries urine and semen (urethra) doesn’t fully extend to the tip of the penis
• An abnormally small penis with the urethral opening nearer to the scrotum, indicating that the penis stopped growing early in its development
• No recognizable male genitalia in the most severe cases
• The absence of both testicles in what appears to be the scrotum

Causes

The role of chromosomes
The genetic sex of a child is established at conception based on the 23rd pair of chromosomes it inherits. The mother’s egg contains an X chromosome, and the father’s sperm contains either an X or Y chromosome. A baby who inherits the X chromosome from the father is a genetic female (a pair of X chromosomes). A baby who inherits the Y chromosome from the father is a genetic male (one X and one Y chromosome).

Fetal sexual development
In early fetal development, males and females are indistinguishable. Male and female sex organs develop from the same tissue in the fetus. For example, the same fetal tissue that forms a penis in a male also forms a clitoris in a female. The presence or absence of male hormones controls the development of the sex organs. Normally, male genitalia develop because of male hormones from the fetal testicles. In the female fetus — without the effects of male hormones — the genitalia develop as female.

A deficiency of male hormone in a genetic male fetus results in ambiguous genitalia. In a female fetus, the presence of male hormone during development results in ambiguous genitalia. Although the deficiency or presence of male hormones is the main factor controlling genital development, the exact cause of ambiguous genitalia is often unknown. Many of the disorders seem to happen by chance.

Possible causes in genetic females
Causes of ambiguous genitalia in a genetic female may include:

• Congenital adrenal hyperplasia (CAH). Certain forms of this genetic condition cause the adrenal glands to make excess male hormones (androgens). Congenital adrenal hyperplasia is the most common cause of ambiguous genitalia in newborns.
• Ingestion by the mother of substances with male hormone activity, such as progesterone (taken in the early stages of pregnancy to stop bleeding).
• Tumors in the fetus or the mother that produce male hormones.

Possible causes in genetic males
Causes of ambiguous genitalia in a genetic male may include:

• Impaired testicle development due to genetic abnormalities or unknown causes.
• Leydig cell aplasia, a condition that impairs testosterone production.
• Congenital adrenal hyperplasia. Certain forms of this genetic condition can impair production of male hormones.
• Androgen insensitivity syndrome, a condition in which developing genital tissues are unable to respond to normal male hormone levels.
• 5alpha-reductase deficiency, an enzyme defect that impairs normal male hormone production.
• Ingestion by the mother of substances with female hormone activity, such as estrogens, or anti-androgens. This is unusual, but could occur if a woman taking birth control pills gets pregnant despite taking the pills — then, not knowing she’s pregnant, continues taking the pills into pregnancy for several weeks. Also some “nutritional supplements” contain plant estrogens.

Risk factors

As is the case with many abnormalities, family history may play a role in the development of ambiguous genitalia. Possible risk factors associated with ambiguous genitalia include a family history of:

• Unexplained deaths in early infancy
• Infertility in close relatives
• Genital abnormalities
• Abnormal development during puberty

Because most causes of ambiguous genitalia are due to genetic abnormalities, the presence of similar abnormalities in family members is important. Having a family member with known congenital adrenal hyperplasia, infertility or abnormal pubertal development may indicate a genetic abnormality in the family. Also, a personal or family history of prior babies being born with genital abnormalities, or dying shortly after birth, may indicate an inherited abnormality that could result in future children being born with ambiguous genitalia.

When to seek medical advice

If both parents are carriers of congenital adrenal hyperplasia, there’s the chance that their baby could develop ambiguous genitalia if he or she inherits the abnormal gene from both parents. Parents may not know they have congenital adrenal hyperplasia because as carriers they show no signs or symptoms of this condition.

If your family has a history of risk factors associated with ambiguous genitalia, seek medical advice before conceiving.

Tests and diagnosis

If your baby is born with ambiguous genitalia, you and your doctor will want to determine the underlying abnormality and extent of deformity. The first indication of ambiguous genitalia will be by a physical examination. Your doctor will likely recommend the following tests and procedures:

• Blood and urine tests to measure hormone levels
• Chromosome analysis to determine the genetic sex (XX or XY)
• Ultrasound to check for the presence of internal female sex organs
• A biopsy of your newborn’s reproductive organs to determine if the organs will produce appropriate sex hormones for the sex assigned to the child
• A genitogram, a special X-ray to see if a vagina is present and its size

Using the information gathered from these tests, your doctor may suggest an appropriate sex for the baby.

Despite the social stigma attached to not knowing if your baby is a boy or a girl right away, some research shows that delaying gender assignment until the child is older may be of benefit. If the gender assignment is made too early, and the correct decision isn’t made, your child may be confronted with difficult psychological and social issues later in life.

Complications

The outlook is good for many babies born with ambiguous genitalia in terms of their ability to conceive and be fertile later in life. However, for others born with ambiguous genitalia, the severity of the condition, complicated hormone levels and trouble adjusting to their assigned sex may make it difficult or impossible to conceive a child later in life.

Treatments and drugs

Management of ambiguous genitalia requires a team of doctors that may involve a number of specialties — pediatric endocrinology, neonatology, urology, plastic surgery, medical genetics and psychology. Your medical team can explain to you the options available for your child and likely suggest a course of action. The timing of treatment depends on a child’s specific situation.

Treatment options may include:

• Reconstructive surgery. The goal of surgery is usually cosmetic, to make the boy’s or girl’s genitalia look natural. In some cases, the surgery can be more involved in hopes of restoring sexual function. Results are often satisfying. However, your child may need repeat surgeries later in life. And there is a risk of a disappointing cosmetic result or sexual dysfunction, such as an inability to achieve orgasm.

  Certain types of surgery for ambiguous genitalia are most successful when carried out soon after birth, while others are best delayed until later in your child’s development — in some cases, until your child reaches sexual maturity. In severe cases of ambiguous genitalia, both the medical and psychological results may be better if surgery is delayed until your child can play a role in participating in the sex-assignment decision.

  For girls, sexual function of the organs is often not compromised despite any ambiguous appearance. Depending on the severity of the condition, surgery options range from uncovering a vagina hidden under the skin to removing excess masculine tissue around the clitoris. Surgeries are carried out carefully to avoid damaging nerve endings and blood flow in hopes of ensuring normal sexual function in the future.

  For boys, the surgery may be more complicated, but often successful. Surgery gives genetic males born with a shorter, incomplete penis the opportunity to have a more normal penis. In many cases, no further surgery is required for this reconstructed organ, and it will have a normal look and erectile functionality. Female organs that remain under the skin — such as a uterus or vagina — rarely cause a physical problem, but are often surgically removed because a boy’s knowledge of these structures later in life may be emotionally difficult.

• Hormone therapy. Depending on the severity of the condition, hormone therapy alone may be enough to correct the initial hormonal imbalance. For example, in a genetic female with a slightly enlarged clitoris caused by a minor to moderate case of congenital adrenal hyperplasia, proper levels of hormones may shrink the tissue close to a normal size.

Coping and support

Not knowing the sex of your baby immediately is a difficult issue to face. As parents, it’s best to discipline your thoughts not to think of your baby as a girl or a boy until a medical evaluation is complete.

Meanwhile you might consider giving the child a neutral name suitable for either a boy or a girl. You might also defer announcing the birth until the evaluations are complete in that the first question everyone asks regarding a new baby is whether it’s a girl or a boy.

Because of the additional stress this may place on a family, ongoing counseling for the child as well as the family may become an important part of the process. Mental health providers and support groups may all help you to deal with this difficult and unexpected set of circumstances.

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Definition

Like with root canal, the thought of dry socket probably sends chills down your spine. Even if you’ve never had this condition, you may wince in sympathetic pain as a relative or co-worker recounts his or her tale of dry socket. Although dry socket can indeed be painful, the condition has taken on frightening proportions that may not match reality.

Dry socket (alveolar osteitis) is a dental condition that occurs when the blood clot at the site of a tooth extraction is dislodged, exposing underlying bone and nerves and causing increasing pain. It’s the most common complication following tooth extractions, such as the removal of impacted wisdom teeth. But with proper postoperative dental care and avoidance of risk factors, dry socket often can be prevented. When it does occur, treatment usually provides immediate relief.

Symptoms

Dry socket is a condition that sometimes occurs after a tooth extraction. It has several tell-tale signs and symptoms, including:

• Partial or total loss of the blood clot at the extraction site, which you may notice as an empty-looking (dry) socket
• Visible bone in the socket
• Pain that increases between one and three days after tooth extraction and that typically becomes severe and unrelenting
• Pain that radiates from the socket to your ear or eye on the same side of your face
• Bad breath or a foul odor coming from your mouth
• Unpleasant taste in your mouth
• Swollen lymph nodes around your jaw or neck

Causes

Normally, a blood clot forms at the site of a tooth extraction. This blood clot serves as a protective layer over the underlying bone and nerve endings in the empty tooth socket. The clot provides the foundation for the growth of new tissue and bone.

In some cases, though, the clot doesn’t form properly or is physically dislodged before complete healing. With the clot gone, bone and nerves in the socket are exposed to air, fluids and food. This can cause intense pain, not only in the socket but also along the nerves radiating to the ear and eye on the same side of your face.

But the precise cause of dry socket remains the subject of study. Some researchers believe that several issues may be at play, including:

• Bacterial contamination of the socket
• Difficult