Prostatitis. Symptoms of a prostatitis. Treatment of a chronic prostatitis

The prostatitis - disease so complex and artful, that its treatment represents a greater problem for doctors of all world. However it at all does not mean, that the doctor anything helps sick of a prostatitis cannot, and to go to it it be no point. Not always there is a possibility completely to cure the patient of a prostatitis, but to eliminate symptoms of disease and to cause resistant long-term remission modern medicine in forces. And there duration of this period will already depend on the patient.

The prostatitis can suddenly develop, as sharp inflammatory disease with all corresponding semiology. In this case at the patient heat, a fever, a body temperature 38-39 With, sharp pains in perineum, a groin, for pubis, areas of back pass, painful urination and defecation will be marked.

Unfortunately, the medicine in general and urology in particular cannot boast of achievements in treatment of a syndrome which we name "prostatitis". The cancer of a prostata gland and innocent hyperplasia of prostate gland was intercepted with attention of the scientific, research centers and the pharmaceutical companies. And a prostatitis as " the poor relative " these diseases, remained long time outside of sphere of interests of the advanced medicine. Though all knew, that the echo the "dark horse" amazing prostate gland, and accordingly the attitude to a prostatitis as to "dark horse" was superficial, and sometimes - deformed.

The reasons for it was a little. Was considered, that the prostatitis does not bear direct threat for a life of the patient and, means, with this disease it is possible to adapt to live. Now the situation has cardinally changed, when to one of priorities of modern medicine became quality of a life. Last researches have shown, that the chronic prostatitis is one of frequent clinically and socially significant diseases. And mental health at a chronic prostatitis suffers not less, than at other heavy somatic diseases, that sharply reduces quality of a life of men. And it has served as serious stimulus for studying this problem.

Another very the cardinal error consist that many doctors have been convinced, and the some people till now consider, that the reason of all cases of a prostatitis is the chronic infection which is necessary for treating antibacterial preparations. Already absolutely the fact in evidence considers, that the chronic bacterial prostatitis is rather rare disease and makes only 10 % among all cases of a prostatitis.

One more serious problem are complexities in diagnostics of some forms of a prostatitis, and it is the reason of inadequate and ineffective treatment of such patients, that finally leads frustration both the patient, and the attending physician.

For example, men with urological masks of depression (urethral hypochondriacs) quite often became patients of urologists and many years were treated for a nonexistent prostatitis. It only aggravated opinion on complexity and hopelessness of treatment of a prostatitis. Other typical mistake was the far-fetched interrelation of a chronic prostatitis and erectile dysfunctions. Until recently, the mechanism fo erection has not been studied yet and methods of diagnostics and treatment of infringements erection are not standardized, the majority of the patients addressing to the urologist with AD, there passed inspection and treatment of a chronic prostatitis. In occasion of nonexistent disease of the patient accepted set of antibiotics, to it on a regular basis massed prostate gland and appointed various physiotherapeutic procedures. Thus the erection was not restored, and to the patient the label of "prostatics" that caused serious damage to mental health was attached.

Read More......

Infertility in Men

Description An in-depth report on the causes, diagnosis, treatment, and prevention of male infertility.

Causes In a 2001 study, the causes of infertility in men seeking to conceive were the following: Vasectomy. In the study 56% of men were seeking a reversal of this procedure. Thirty years ago, this was a factor in only 5% of men seeking help for fertility. Varicocele (14%). A network of veins carries blood away from the testicles and back up into the body. If these veins become enlarged, twisted, and swollen (similar to varicose veins in the leg), this condition is termed a varicocele. Varicoceles can impair testicular function and fertility. Unknown infertility (8%). Absence of sperm (6%). There are many biologic and environmental factors that can lead to low sperm count. For instance, abnormalities in production or obstruction of the tubes that carry sperm can reduce sperm levels. A condition called Sertoli cell-only syndrome is one in which the cells that produce sperm (the Sertoli cells) are absent. This can be a congenital problem that a man is born with or caused by infection, injury, medication, radiation, or genetics. In addition, other conditions may cause infertility in men.

Age

The effect of aging on male fertility is not clear. Some growing evidence suggests that it may be a factor (although not to the extent that it is in women). One earlier study suggested that sperm number and quality do not decline until beyond age 64, but a subsequent 2000 trial reported reductions in sperm count and quality between the second and fifth decade of life. Another study reported that fertilization rates during fertility treatments were over 60% for men under 39 but fell to slightly over half after age 40. Genetic defects in sperm have also been observed to increase with advancing age, although the implications for fertility are unclear. A 2002 study indicated that when men with genital infections were not considered, there was no difference in fertility rates between older and younger men.

Temporary and Lifestyle Causes of Low Sperm Count

Nearly any major physical or mental stress can temporarily reduce sperm count. Some common conditions that lower sperm count, temporarily in nearly all cases, include the following:

Emotional Stress. Stress may interfere with the hormone GnRH and reduce sperm counts.

Sexual Issues. In less than 1% of cases, impotence, premature ejaculation, or psychological or relationship problems contribute to male infertility, although these conditions are usually very treatable. Lubricants used with condoms, including spermicides, oils, and Vaseline, can affect fertility. Astroglide, Replens, or mineral oil may not be as harmful to sperm. However, oil-based lubricants can damage latex condoms and should be avoided.

Testicular Overheating. Overheating, such as from high fevers, saunas, and hot tubs, may temporarily lower sperm count. Persistent exposure to high temperatures during work may even impair fertility. One French study suggested that driving for only two hours a day can increase temperature in the scrotum and reduce sperm count. This study was small, however, and more research is needed. A number of trials have found no negative effects on fertility from wearing tight trousers, briefs, or athletic supports, even every day.

Substance Abuse. Cocaine or heavy marijuana use appears to temporarily reduce the number and quality of sperm by as much as 50%. Sperm actually have receptors for certain compounds in marijuana that may impair the sperms ability to swim and also inhibit their ability to penetrate the egg. Alcohol does not appear to affect fertility, unless it is so abused that it causes liver damage.

Smoking. Smoking impairs sperm motility, reduces sperm lifespan, and may cause genetic changes that affect the offspring. One 2002 trial found that men or women who smoke have lower success rates with assisted reproductive technologies. An earlier study reported that men who smoke also have lower sex drives and less frequent sex.

Malnutrition and Nutrient Deficiencies. Deficiencies in certain nutrients, such as vitamin E, vitamin C, selenium, zinc, and folate, may be particular risk factors for infertility

Obesity. Some studies, but not all, have found an association between obesity in men and infertility.

Bicycling. Bicycling has been linked to impotence in men and also may affect fertility. Pressure from the bike seat may damage blood vessels and nerves that are responsible for erections. Mountain biking, which involves riding on off-road terrain, exposes the perineum (the region between the scrotum and the anus) to more extreme shocks and vibrations and increases the risk for injuries to the scrotum. A study in Austria found that men who mountain bike are far more likely to have scrotal abnormalities, including calcium deposits, cysts, and twisted veins. Men who cycle can reduce such risks by the following:

• Taking frequent rests while biking.
• Wearing padded bike shorts.
• Using a padded or specially contoured bike seat that is raised high enough and sits at the proper angle.

Genetic Factors

Problems in the genes that regulate male fertility and in the genetic material of sperm itself are important contributors to infertility problems in men. In fact, even in men with no known fertility problems, 19% of the sperm are genetically defective. Certain inherited medical conditions also contribute to male infertility. Defective genes themselves can be inherited, produced by environmental assaults (such radiation exposure), or both. Of some concern is the possibility that these mutations will be pass to offspring in men who undergo fertilization techniques that retrieve sperm and directly fertilize to the egg. (Under natural conditions, genetically abnormal sperm would be very unlikely to reach and fertilize the egg.)

Defective Genetic Material. Sperm carry half the genetic material necessary to make a human being. Infertile men have been reported to have a relatively high percentage of sperm with broken or damaged DNA (the molecular chain that makes up a gene).

Genetic Factors Specifically Affecting Sperm Production or Quality. Abnormalities in genes that specifically regulate sperm production and quality are major factors in male infertility. Some research suggests that about 10% of cases of male infertility may be due to problems, most likely genetic, in the acrosome. The acrosome is the enzyme-filled membrane cap on the sperm--its warhead--that is critical for piercing the egg. In one study, pregnancy was impaired if 7% or more of sperm had abnormalities in the acrosome.

Inherited Disorders that Affect Fertility. Certain inherited disorders can impair fertility. Examples include the following:

• Cystic fibrosis patients often have missing or obstructed vas deferens (the tubes that carry sperm). In fact, in men whose infertility is caused by an inborn missing vas deferens have a 60% chance that they carry the gene for cystic fibrosis (even if they don't have the disease itself).
• Klinefelter syndrome patients carry two X and one Y chromosomes (the norm is one X and one Y), which leads to the destruction of the lining of the seminiferous tubules in the testicles during puberty, although most other male physical attributes are unimpaired.
• Kartagener syndrome, a rare disorder that is associated with a reversed position of the major organs, also includes immotile cilia (hair-like cells in lungs and sinuses that have a structure similar to the tails of sperm). Sperm motility may then also be impaired by this condition.
• Polycystic kidney disease, a relatively common genetic disorder that causes large cysts to form on the kidneys and other organs during adulthood, may cause infertility as the first symptom if cysts develop in the reproductive tract.

Environmental Assaults

Exposure to toxins, chemicals, or infections may reduce sperm count either by direct effects on testicular function or by altering hormone systems, although the extent of the impact and specific environmental assaults involved are often controversial. Some experts believe it is contributing to a general worldwide decline in male fertility.

Free Radicals (Oxidants). The primary suspects in the link between environmental assaults and infertility are free radicals, also called oxidants. These are unstable molecules, usually containing oxygen, that are released as a by-product of many natural chemical processes in the body. Infections, chemicals, and other environmental assaults can produce high levels of these particles. And, high levels can do harm, even affect the genetic material in cells. Sperm are particularly vulnerable to the damaging effects of this oxidation process. There have been reports that significant levels of oxidants occur in the semen of about 25% of infertile men. Additional investigation is under way.

Exposure to Estrogen-Like and Hormone-Disrupting Chemicals. European studies have increasingly reported a worsening in male reproductive health and an increase in testicular and prostate cancers. Many investigators strongly suspect environmental causes, particularly excessive chemicals that disrupt hormones, as a major cause for both these events. Estrogen-like chemicals found in pesticides and other chemicals are of particular concern. Overexposure to estrogen in male animals reduces the number of Sertoli cells (the cells necessary for the initial development of sperm). Some hormone-disrupting chemicals under investigation include the following:

Treatment of prostate cancer varies depending on the stage of the cancer (i.e., spread) and may include surgical removal, radiation, chemotherapy, hormonal manipulation or a combination of these treatments.

• Bisphenol A is a widely used chemical found in plastic food containers and bottles that has provoked concern. It has potent estrogen-like effects in low dose. Use of the chemical in female rats has produced prostate abnormalities in their male offspring.
• Phthalates, chemicals used to soften plastics, are under particular scrutiny for their ability to disrupt hormones. Specific phylates of special concern include dibutyl phthalate (DBP), which is found in many products, including cosmetics and clay products sold to children (Fimo, Sculpey). Animals exposed to phylates have significantly impaired sperm count and abnormalities in their reproductive structures, such as the testes. In addition, there is some concern that exposure in pregnant women may affect the offspring,
• Organochlorines are compounds that combine chlorine and organic substances--usually petrochemicals. Many have estrogen-like effects, including those previously used to make plastics (PCBs) and pesticides (e.g., DDT and p,p-DDE). Some, such as dioxins and furans, are byproducts of many chemical processes. Fortunately, most of these chemicals have been banned, but they were heavily used in manufacturing before 1970 and are still widespread within the population. Studies have reported that when men had a history of moderate or high on-the-job exposure to pesticides containing organochlorines their fertility rates were lower than men without such exposures. Studies in 2002 found a strong correlation between high levels of polychlorinated biphenyls (PCBs) or p,p-DDE with reduced sperm quality and quantity. In one of the studies, even men with healthy sperm with high organochlorine levels had a lower sperm count than those with lower levels of these compounds.
• Because of the connection between estrogen and infertility, there has been some concern that plant-based estrogens (phytoestrogens), such as the isoflavones found in soy and other foods, may impair sperm. One study of men who took isoflavone supplements for two months found no negative effects on their reproductive health.

Most evidence on the hormone of chemical estrogens has occurred in animals and birds. Tests of single chemicals containing estrogen have reported little danger for people. Some studies suggest, however, that exposure to more than one of these chemicals may be very harmful. At this time, there is no strong evidence supporting a serious harmful effect in people who have normal exposure to these chemicals. Major efforts are underway to determine the extent of any possible harm from these chemicals.

Hydrocarbons and Other Industrial Chemicals. In one 2000 study, workers in a rubber factory who were chronically exposed to hydrocarbons (ethylbenzene, benzene, toluene, and xylene) had lower than average sperm counts and sperm qualities. (In one 2001 study, men who smoked and worked in petrochemical plants had particularly poor sperm quality.) Still, not all major studies have confirmed the effects of these chemicals and evidence showing any significant effect on fertility is weak.

Exposure to Heavy Metals. Chronic exposure to heavy metals such as lead, cadmium, or arsenic may affect sperm quality. Trace amounts of these metals in semen seem to inhibit the function of enzymes contained in the acrosome, the membrane that covers the head of the sperm.

Radiation Treatments. X-rays and other forms of radiation affect any rapidly dividing cell, so cells that produce sperm are quite sensitive to radiation damage. Cells exposed to significant levels of radiation may take up to two years to resume normal sperm production and, in severe circumstances, may never recover.

Low Semen Levels

Men with fertility problems because of low semen levels when they ejaculate may have a structural abnormality in the tubes transporting the sperm. (A normal amount of semen is 2.5 to 5 mL, or about 1/2 to 1 teaspoon.)

Varicocele

A varicocele is an abnormally enlarged and twisted (varicose) vein in the spermatic cord that connects to the testicle. Varicoceles are found in 15% to 20% of all men and in 25% to 40% of infertile men, although it is not clear how or even if they affect fertility. They tend to occur more commonly (85 percent) on the left side. Some theories supporting their possible effect on infertility include the following:

Click the icon to see an image of a varicocele.

• Varicoceles may partially obstruct the passages through which sperm pass.
• Varicoceles may elevate temperature in the testes.
• Varicoceles may produce higher levels of nitric oxide, a substance that has beneficial effects on blood flow and other functions but which might, in excess, injure sperm.
• Varicoceles may block oxygen supply to the sperm.
• Varicoceles have been associated with abnormalities in cellular material in the sperm. One study suggested that some men may have genetic defects that cause both varicoceles and impaired sperm, rather than the varicocele itself causing infertility.

Some reports indicate that only varicoceles that are large enough to be felt (termed palpable) may impact fertility. On the other hand, an eight-year study of men with and without varicoceles, however, found no differences in sperm quality or in the ability to conceive. Furthermore, the few well-conducted studies on repair of varicoceles suggest that the procedure does not improve pregnancy rates. Their effect on fertility remains unclear.

Testosterone Deficiencies and Hypogonadism.

Hypogonadism is the general name for a severe deficiency in gonadotropin-releasing hormone (GnRH), the primary hormone that signals the process leading to the release of testosterone and other important reproductive hormones. Low levels of testosterone from any cause may result in defective sperm production.

Hypogonadism is uncommon and is most often present at the time of birth, usually the result of rare genetic diseases affecting the pituitary gland that may include selective deficiencies of the hormones FSH and LH, Kallman syndrome, or panhypopituitarism, in which the pituitary gland fails to make almost all hormones. It can also develop later in life from brain or pituitary gland tumors or as a result of radiation treatments. Defects in the gene on the X chromosome that regulates receptors that bind to androgens--male hormones--may also prove to be very important causes of male infertility.

Click the icon to see an image of the pituitary gland.

Autoantibodies

Autoimmunity is a condition in which microbe-fighting agents of the immune system called antibodies attack specific cells in the body, mistaking them for foreign microinvaders. In the case of male infertility, these so-called autoantibodies (self antibodies) target the sperm. Antibodies bind to specific parts of the sperm, such as the head or tail and, depending on the site of attachment, cause various problems:

• Sperm may stick together (agglutinate).
• They may fail to interact with cervical mucous.
• They may be unable to penetrate the egg.

Some experts believe that in most cases the presence of these antibodies will not prevent conception unless a large percentage of sperm are affected.

Vasectomy and Anti-Sperm Antibodies. Vasectomy, the primary sterility procedure in men, is the most common cause of sperm autoantibodies (also called anti-sperm antibodies). Experts believe their typical development is as follows:

• Vasectomy works by severing the vas deferens, the tube that carries sperm from the testicles to the urethra (which leads out of the penis).
• After vasectomy, sperm continue to be produced but, instead of being confined to the reproductive passages, they leak out into the body.
• Here, the immune system may perceive them as foreign invaders and develop antibodies to attack them.

Such antibodies often persist, even if a man restores sperm flow by a successful reversal procedure (vasovasostomy). The persistence of anti-sperm antibodies may result in infertility.

Click the icon to see an illustrated series detailing vasectomy.

Other Causes of Autoantibodies. Antibodies to sperm can also appear in men without previous vasectomies and have been reported to be present in 10% of all men with fertility problems. They may be linked to genital infections or injury, although the cause is usually not known.

Retrograde Ejaculation

Retrograde ejaculation occurs when the muscles of the urethra do not pump properly during orgasm and sperm are forced backward into the bladder instead of forward out of the urethra. Sperm quality is often impaired.

Retrograde ejaculation can be the consequence of a number of conditions:

• Surgery to the bladder neck (the lower part of the bladder) or prostate is the most common cause of retrograde ejaculation.
• Diabetes.
• Multiple sclerosis.
• Back surgery
• Spinal cord injury.
• A temporary side effect of certain drugs, such as tranquilizers, certain antipsychotics, or hypertension medications.

Testicular Dysgenesis Syndrome and Other Physical or Structural Abnormalities

Any structural abnormalities that affect the testes, tubes, or other reproductive structures can have a profound effect on fertility.

Testicular Dysgenesis Syndrome. Testicular dysgenesis syndrome is a recently observed occurrence of three conditions--impaired sperm production and quality, testicular cancer, and genital tract abnormalities. All three of these conditions are increasing--not necessarily all three in one individual--but in the male population generally. Environmental factors that increase damage from oxidants are believed to be responsible.

The genital abnormalities identified with this syndrome are undescended testes and hypospadias, each of which is associated with infertility:

• Undescended Testes (Cryptorchidism). In some cases, there is a failure of the testes to descend from the abdomen into the scrotum during fetal life. Cryptorchidism is associated with mild to severe impairment of sperm production. In one survey, 38% of men who as youngsters had two undescended testicles and 10% of men with one undescended testicle were infertile, compared with 5% of men who had normal testes. Even one undescended testicle may impair fertility. In cryptorchidism, the testes are exposed to the higher internal body heat, but this may not totally explain the damage in sperm production that can occur. (Note: Men who suffer from this condition should be aware that even if the testicle is surgically moved to the scrotum, their risk of testicular cancer is significantly increased, warranting careful self-exams and regular follow-up with a physician.)
• Hypospadias. This is a birth defect in which the urinary opening is on the underside of the penis, can prevent sperm from reaching the cervix if not surgically corrected.

Click the icon to see an image of an undescended testicle.

Click the icon to see an image of hypospadius.

Blockage in the Tubes that Transport Sperm. Some men are born with a blockage in the epididymis or ejaculatory ducts or other problems that later affect fertility. One center reported that 2% of men seeking treatment had no vas deferens.

Anorchia. In the very rare condition known as anorchia, a man is born without any testes.

Syringomyelia. This is a disease of the spinal cord, results in no ejaculate at all (aspermia).

Cancer and Its Treatments

Birth rates among cancer survivors are only 40% to 85% of the expected rates. Certain cancers, particularly testicular cancer, impair sperm production, often severely. The major cancer treatments such as chemotherapy and radiation may impair sperm quality and quantity. The closer radiation treatments are to reproductive organs, the higher the risk for infertility. Fortunately, while men may fail to produce sperm for as long as five years after radiation therapy, sperm production may eventually recover in many. Chemotherapy with alkylating agents or other drugs that can harm reproductive function tends to affect fertility more severely in men than in women. New regimens are helping to improve fertility rates.

On an encouraging note, in spite of concerns that cancer treatments may affect sperm DNA, a 2002 study found no higher rate of genetic abnormalities in the sperm of cancer survivors compared to men without a cancer history. Adolescents and older men undergoing cancer treatments who may want to father children should consider banking and freezing their sperm for later use in assisted reproductive therapies.

Infections

There is some controversy over the effect of infections on infertility. Simply detecting the presence of an infection in infertile men does not necessarily mean that it has any relationship to the infertility itself. Some experts believe that the immune response to some infections may release inflammatory factors and oxidants, chemically unstable particles that can damage sperm. The exact impact of this process on sperm is unclear, however. Infections may alter the liquidity of semen and sperm motility, although these are likely to be temporary effects. Among the infections most implicated in infertility are the following:

Sexually Transmitted Diseases. Repeated Chlamydia trachomatis or gonorrhea infections are most often associated with male infertility. Such infections can cause scarring and block sperm passage. Human papillomaviruses, the cause of genital warts, may also impair sperm function.

Mycoplasma. Mycoplasma is an infectious organism that appears to fasten itself to sperm cells and render them less motile.

Mumps. When mumps develops after puberty, it damages the testicles in 25% of men afflicted with the disease. (Interferon, an anti-viral drug, may help prevent infertility in adult males with active mumps, but the drug is highly toxic and caution is essential.)

Glandular Infections in the Urinary Tract or Genitals. Glandular infections that may affect fertility include prostatitis (in the prostate gland), orchitis (in the testicle), semino-vesculitis (in the glands that produce semen), or urethritis (in the urethra), perhaps by altering sperm motility. Even after successful antibiotic treatment, infections in the testes may leave scar tissue that blocks the epididymis.

Read More......

Focal neurological deficits

Definition

A focal neurologic deficit is a problem in nerve function that affects:

• A specific location -- such as the left face, right face, left arm, right arm, left leg, right leg, even just a small area such as just the tongue
• A specific function -- for example, speech may be affected, but not the ability to write

The problem occurs in the brain or nervous system. It may result in a loss of movement or sensation. The type, location, and severity of the change can indicate the area of the brain or nervous system that is affected.

In contrast, a non-focal problem is NOT specific -- such as a general loss of consciousness.

Alternative Names

Neurological deficits - focal

Considerations

Focal neurologic changes can include any function. Sensation changes include paresthesia (abnormal sensations), numbness, or decreases in sensation. Movement changes include paralysis, weakness, loss of muscle control, increased muscle tone, and loss of muscle tone.

Other types of focal loss of function include:

• Speech or language difficulties such as aphasia or dysarthria (impaired speech and language skills), poor enunciation, poor understanding of speech, impaired writing, impaired ability to read or to understand writing, inability to name objects (anomia)
• Vision changes such as reduced vision, decreased visual field, sudden vision loss, double vision (diplopia)
• Neglect or inattention to the surroundings on one side of the body
• Loss of coordination, or loss of fine motor control (ability to perform complex movements)
• Horner's syndrome: one-sided eyelid drooping, lack of sweating on one side of the face, and sinking of one eye into the socket
• Poor gag reflex, swallowing difficulty, and frequent choking

Causes

• Stroke
• Brain tumor
• Cerebral palsy
• Disorders of a single nerve or nerve group (for example, see carpal tunnel syndrome)
• Infection
• Trauma
• Neurodegenerative illness
• Vascular malformation

Home Care

Home care depends on the type and the cause of neurologic loss. (See the specific causative disorder.)

When to Contact a Medical Professional

If any loss of movement, sensation, or function occurs, call your health care provider.

What to Expect at Your Office Visit

The medical history will be obtained and a physical examination performed.

Medical history questions documenting neurological deficits in detail may include:

• Where is the loss of function?
  • Right arm?
  • Right leg?
  • Left arm?
  • Left leg?
  • Another location (be specific)?
• What deficits are present?
  • Loss of vision?
  • Numbness?
  • Loss of movement?
  • Loss of strength?
  • Loss of hearing?
  • Speech problem or language problem?
  • Other (be specific)?
• What other symptoms are also present?

The physical examination will include a detailed examination of nervous system function.

Diagnostic tests vary depending on other symptoms and the suspected cause of the nerve function loss.

Read More......

Picks disease

Definition

Pick's disease is a rare and permanent form of dementia that is similar to Alzheimer's disease, except that it tends to affect only certain areas of the brain.

Alternative Names

Semantic dementia; Dementia - semantic; Frontotemporal dementia; Arnold Pick's disease

Causes

People with Pick's disease have abnormal substances (called Pick bodies and Pick cells) inside nerve cells in the damaged areas of the brain.

Pick bodies and Pick cells contain an abnormal form of a protein called tau. This protein is found in all nerve cells. But some people with Pick's disease have an abnormal amount or type of this protein.

The exact cause of the abnormal form of the protein is unknown. A gene for the disease has not yet been found. Most cases of Pick's disease are not passed down through families.

Pick's disease is rare. It is more common in women than men. It can occur in people as young as 20, but usually begins between ages 40 and 60. The average age at which it begins is 54.

Symptoms

The disease can get worse slowly. Tissues in the temporal and frontal lobes of the brain start to shrink over time. Symptoms such as behavior changes, speech difficulty, and impaired thinking occur slowly, but continue to get worse.

The early personality changes can help doctors tell Pick's disease apart from Alzheimers. Memory loss is often the main, and earliest, symptom of Alzheimer's.

People with Pick's disease tend to behave the wrong way in different social settings. The changes in behavior continue to get worse and are often one of the most disturbing symptoms of the disease. Some patients will have difficulty with language (trouble finding or understanding words or writing).

General symptoms are listed below.

Behavioral changes:

• Can't keep a job
• Compulsive behaviors
• Inappropriate behavior
• Inability to function or interact in social or personal situations
• Problems with personal hygiene
• Repetitive behavior
• Withdrawal from social interaction

Emotional changes:

• Abrupt mood changes
• Decreased interest in daily living activities
• Failure to recognize changes in behavior
• Failure to show emotional warmth, concern, empathy, sympathy
• Inappropriate mood
• Not caring about events or environment

Language changes:

• Can't speak (mutism)
• Decreased ability to read or write
• Difficulty finding a word
• Difficulty speaking or understanding speech (aphasia)
• Repeat anything spoken to them (echolalia)
• Shrinking vocabulary
• Weak, uncoordinated speech sounds

Neurological problems:

• Increased muscle tone (rigidity)
• Memory loss that gets worse
• Movement/coordination difficulties (apraxia)
• Weakness

Other problems:

• Urinary incontinence

Exams and Tests

The doctor will ask you about your medical history and symptoms.

Your health care provider might order tests to help rule out other causes of dementia, including dementia due to metabolic causes. These tests can include:

• Assessment of the mind and behavior (neuropsychological assessment)
• Brain MRI
• Electroencephalogram (EEG)
• Examination of the brain and nervous system (neurological exam)
• Examination of the fluid around the central nervous system (cerebrospinal fluid) after a lumbar puncture
• Head CT scan
• Psychological studies
• Tests of sensation, thinking and reasoning (cognitive function), and motor function

A brain biopsy is the only test that can confirm the diagnosis.

Treatment

There is no specific treatment for Pick's disease. Certain antidepressants may help manage mood swings related to Pick's disease, but further research is needed.

Sometimes patients with Pick's take the same medications used to treat other types of dementia, such as medications that decrease the breakdown of the chemical messenger, acetylcholine (anticholinesterase inhibitors), and memantine (Namenda).

In some cases, stopping or changing medications that worsen confusion or that are not essential can improve thinking and other cognitive functions. This may include medications such as:

• Analgesics
• Anticholinergics
• Central nervous system depressants
• Cimetidine
• Lidocaine

It's important to treat any disorders that contribute to confusion. These may include:

• Anemia
• Decreased oxygen (hypoxia)
• Heart failure
• Infections
• Nutritional disorders
• Thyroid disorders
• Psychiatric conditions such as depression

Treating any medical and psychiatric disorders often helps improve mental function.

Medications may be needed to control aggressive, dangerous, or agitated behaviors.

Some patients may need hearing-aids, glasses, cataract surgery, or other treatments.

Behavior modification can help some people control unacceptable or dangerous behaviors. This consists of rewarding appropriate or positive behaviors and ignoring inappropriate behaviors (when it's safe to do so).

Formal psychotherapy treatment doesn't always work, because it can cause further confusion or disorientation.

Reality orientation, which reinforces environmental and other cues, may help reduce disorientation.

Depending on the symptoms and severity of the disease, the patient might need monitoring and help with personal hygiene and self-care. Eventually, there may be a need for 24-hour care and monitoring at home or in a special facility. Family counseling can help the person cope with the changes needed for home care.

Care may include:

• Adult protective services
• Community resources
• Homemakers
• Visiting nurses or aides
• Volunteer services

People may need legal advice early in the course of the disorder. Advance directives, power of attorney, and other legal actions can make it easier to make ethical decisions regarding the care of the person with Pick's disease.

Support Groups

Some communities may have support groups (such as the Alzheimer's - support group, elder care - support group, or others).

Outlook (Prognosis)

The disorder quickly and steadily becomes worse. Patients become totally disabled early in the course of the disease.

Commonly, Pick's disease causes death within 2 - 10 years, usually from infection and sometimes from general failure of the body systems.

Possible Complications

• Abuse by an over-stressed caregiver
• Infection
• Loss of ability to care for self or perform normal activities
• Loss of ability to interact with others
• Progressive loss of ability to function
• Side effects of medications used to treat the disorder
• Reduced life span

When to Contact a Medical Professional

Call your health care provider if you develop symptoms of Pick's disease.

Call your health care provider or go to the emergency room if mental function gets worse (which may mean that another disorder has developed).

Prevention

There is no known prevention.

References

Moore DP, Jefferson JW. Handbook of Medical Psychiatry. 2nd ed. St. Louis, MO: Mosby; 2004.

Pierce JM. Pick's disease. J Neurol Neurosurg Psychiatry. 2003 Feb;74(2):169.

Grossman M. Frontotemporal dementia: a review. J Intl Neuropsychol Soc. 2002;8:566-583.

Grossman M. Progressive aphasic syndromes: clinical and theoretical advances. Curr Opin Neurol. 2002;15:1-5.

McKhann G, Albert M, Grossman M, Miller B, Dickson D, Trojanowski J. Clinical and pathological diagnosis of frontotemporal dementia. Arch Neurology. 2001;58:1803-1809.

Goetz CG. Goetz: Textbook of Clinical Neurology. 3rd ed. Philadelphia, Pa: Saunders; 2007.

Read More......

Neurofibromatosis-1

Definition

Neurofibromatosis-1 is an inherited disorder in which nerve tissue tumors (neurofibromas) form in the skin, bottom layer of skin (subcutaneous tissue), and nerves from the brain (cranial nerves) and spinal cord (spinal root nerves).

Alternative Names

NF1; Von Recklinghausen neurofibromatosis

Causes

NF1 is an inherited disease. If either parent has NF1, each of their children has a 50% chance of having the disease.

NF1 also appears in families with no previous history of the condition, as a result of a new gene change (mutation) in the sperm or egg. NF1 is caused by abnormalities in a gene for a protein called neurofibromin.

Symptoms

Neurofibromatosis causes unchecked growth of tissue along the nerves. This can put pressure on affected nerves and cause pain, severe nerve damage, and loss of function in the area served by the nerve. Problems with sensation or movement can occur, depending on the nerves affected.

The condition can be very different from person to person, even among people in the same family who have the NF1 gene.

The "coffee-with-milk" (caf-au-lait) spots are the hallmark symptom of neurofibromatosis. Although many healthy people have 1 or 2 small caf-au-lait spots, adults with 6 or more spots greater than 1.5 cm in diameter are likely to have neurofibromatosis. In most people with the condition, these spots may be the only symptom.

Other symptoms may include:

• Blindness
• Convulsions
• Freckles in the underarm or groin
• Large, soft tumors called plexiform neurofibromas, which may have a dark color and may spread under the surface of the skin
• Pain (from affected peripheral nerves)
• Small, rubbery tumors of the skin called nodular neurofibromas

Exams and Tests

Diagnosis is made by a doctor familiar with NF1, including a neurologist, geneticist, dermatologist, or developmental pediatrician. The diagnosis will usually be made based on the unique symptoms and signs of neurofibromatosis.

Signs include:

• Colored, raised spots (Lisch nodules) on the colored part (iris) of the eye
• Fracture of the long bones of the leg in early childhood
• Freckling in the armpits, groin, or underneath the breast in women
• Large tumors under the skin (plexiform neurofibromas), which can affect the appearance and put pressure on nearby nerves or organs
• Many soft tumors on the skin or deeper in the body
• Mild cognitive impairment, attention deficit hyperactivity disorder, learning disorders
• Soft nodules under the skin

Tests may include:

• Eye exam by an ophthalmologist familiar with NF1
• Genetic tests to find a change (mutation) in the neurofibromin gene
• MRI of the affected site
• Other specific tests for complications

Treatment

There is no specific treatment for neurofibromatosis. Tumors that cause pain or loss of function may be removed. Tumors that have grown quickly should be removed promptly as they may become cancerous (malignant). Experimental treatments for severe tumors are under investigation.

Some children with learning disorders may need special schooling.

Support Groups

For more information and resources, contact the National Neurofibromatosis Foundation.

Outlook (Prognosis)

If there are no complications, the life expectancy of people with neurofibromatosis is almost normal. With the right education and job expectations, people with neurofibromatosis can live a normal life.

Although mental impairment is generally mild, NF1 is a known cause of attention deficit hyperactivity disorder in a small number of patients. Learning disabilities are a common problem.

Some people are treated differently because they have hundreds of tumors on their skin.

Patients with neurofibromatosis have an increased chance of developing severe tumors. In rare cases, these can shorten a person's lifespan.

Possible Complications

• Attention deficit hyperactivity disorder (ADHD)
• Blindness caused by a tumor in an optic nerve (optic glioma)
• Break in the leg bones that does not heal well
• Cancerous tumors
• Loss of function in nerves that a neurofibroma has put pressure on over the long term
• Pheochromocytoma, which causes very high blood pressure
• Regrowth of NF tumors
• Scoliosis, or curvature of the spine
• Tumors of the face, skin, and other exposed areas

When to Contact a Medical Professional

Call your health care provider if:

• You notice coffee-with-milk colored spots on your child's skin or any of the signs listed here.
• You have a family history of neurofibromatosis and are planning to have children, or would like to have your child examined.

Prevention

Genetic counseling is recommended for anyone with a family history of neurofibromatosis.

Annual eye exams are strongly recommended.

References

Ferner RE. Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol. 2007;6:340-351.

Haslam RHA. Neurocutaneous Syndromes. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelston Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 596.

Read More......

Systemic lupus erythematosus

Definition

Systemic lupus erythematosus (SLE) is a chronic, inflammatory autoimmune disorder. It may affect the skin, joints, kidneys, and other organs.

Alternative Names

Disseminated lupus erythematosus; SLE; Lupus; Lupus erythematosus

Causes

SLE (lupus) is an autoimmune disease. This means there is a problem with the body's normal immune system response. Normally, the immune system helps protect the body from harmful substances. But in patients with an autoimmune disease, the immune system can't tell the difference between harmful substances and healthy ones. The result is an overactive immune response that attacks otherwise healthy cells and tissue. This leads to chronic (long-term) inflammation.

The underlying cause of autoimmune diseases is not fully known. Some researchers think autoimmune diseases occur after infection with an organism that looks like certain proteins in the body. The proteins are later mistaken for the organism and wrongly targeted for attack by the body's immune system.

SLE may be mild or severe enough to cause death.

SLE affects nine times as many women as men. It may occur at any age, but appears most often in people between the ages of 10 and 50 years. African Americans and Asians are affected more often than people from other races.

SLE may also be caused by certain drugs. For information on this cause of SLE, see drug-induced lupus erythematosus.

Symptoms

Symptoms vary from person to person, and may come and go. The condition may affect one organ or body system at first. Others may become involved later. Almost all people with SLE have joint pain and most develop arthritis. Frequently affected joints are the fingers, hands, wrists, and knees.

Inflammation of various parts of the heart may occur as pericarditis, endocarditis, or myocarditis. Chest pain and arrhythmias may result from these conditions.

General symptoms include:

• Arthritis
• Fatigue
• Fever
• General discomfort, uneasiness or ill feeling (malaise)
• Joint pain and swelling
• Muscle aches
• Nausea and vomiting
• Pleural effusions
• Pleurisy (causes chest pain)
• Psychosis
• Seizures
• Sensitivity to sunlight
• Skin rash -- a "butterfly" rash over the cheeks and bridge of the nose affects about half of those with SLE. The rash gets worse when in sunlight. The rash may also be widespread.
• Swollen glands

Additional symptoms that may be associated with this disease:

• Abdominal pain
• Blood disorders, including blood clots
• Blood in the urine
• Coughing up blood
• Fingers that change color upon pressure or in the cold
• Hair loss
• Mouth sores
• Nosebleed
• Numbness and tingling
• Red spots on skin
• Skin color is patchy
• Swallowing difficulty
• Visual disturbance

Exams and Tests

The diagnosis of SLE is based upon the presence of at least four out of eleven typical characteristics of the disease. The doctor will listen to your chest with a stethoscope. A sound called a heart friction rub or pleural friction rub may be heard. A neurological exam will also be performed.

Tests used to diagnose SLE may include:

• Antibody tests, including:
  • Antinuclear antibody (ANA) panel
  • Anti-double strand (ds) DNA
  • Anti-phospholipid antibodies
  • Anti-smith antibodies
• CBC to show low white blood cells, hemoglobin, or platelets
• Chest x-ray showing pleuritis or pericarditis
• Kidney biopsy
• Urinalysis to show blood, casts, or protein in the urine

This disease may also alter the results of the following tests:

• Anti-SSA or -SSB antibodies
• Anti-thyroglobulin antibody
• Anti-thyroid microsomal antibody
• Complement components (C3 and C4)
• Coombs' test - direct
• Cryoglobulins
• ESR
• Rheumatoid factor
• RPR - a test for syphilis
• Serum globulin electrophoresis
• Serum protein electrophoresis

Treatment

There is no cure for SLE. Treatment is aimed at controlling symptoms. Your individual symptoms determine your treatment.

Mild disease that involves a rash, headaches, fever, arthritis, pleurisy, and pericarditis requires little therapy. Nonsteroidal anti-inflammatory medications (NSAIDs) are used to treat arthritis and pleurisy. Corticosteroid creams are used to treat skin rashes. An anti-malaria drug called hydroxychloroquine) and low dose corticosteroids are sometimes used for skin and arthritis symptoms.

You should wear protective clothing, sunglasses, and sunscreen when in the sun.

Severe or life-threatening symptoms (such as hemolytic anemia, extensive heart or lung involvement, kidney disease, or central nervous system involvement) often require treatment by a rheumatologist and other specialists. Corticosteroids or medications to decrease the immune system response may be prescribed to control the various symptoms. Cytotoxic drugs (drugs that block cell growth) are used to treat people who do not respond well to corticosteroids or who might require long-term use of high doses of corticosteroids.

Support Groups

For additional information and support, see lupus resources.

Outlook (Prognosis)

The outcome for people with SLE has improved over recent years. Many of those with SLE have mild illness. Women with SLE who become pregnant are often able to carry the pregnancy safely to term and deliver normal infants, as long as there is no severe kidney or heart disease present and the SLE is being treated appropriately.

The presence of anti-phospholipid antibodies may increase the possibility of pregnancy loss.

The 10-year survival rate for lupus patients is greater than 85%. People with severe involvement of the brain, lungs, heart, and kidney do worse than others in terms of overall survival and disability.

Possible Complications

Some people with SLE have deposits of antibodies within the cells (glomeruli) of the kidneys. This leads to a condition called lupus nephritis. Patients with this condition may eventually develop kidney failure and require dialysis or kidney transplantation.

Other complications include:

• Hemolytic anemia (destruction of the red blood cells)
• Infection
• Myocarditis (inflammation of the heart)
• Seizures
• Serositis: pleural or pericardial effusions (fluid around the lungs or heart)
• Thrombocytopenia (severely low blood platelets)

When to Contact a Medical Professional

Call your health care provider if you develop symptoms of SLE. Also, call if you have SLE and symptoms got worse or if new symptoms develop.

References

Harris ED, Budd RC, Genovese MC, Firestein GS, Sargent JS, Sledge CB. Kelley's Textbook of Rheumatology. 7th ed. St. Louis, Mo: WB Saunders; 2005.

Noble J. Textbook of Primary Care Medicine. 3rd ed. St. Louis, Mo: Mosby; 2001.

Read More......

Salmonellosis, symptoms of the Salmonellosis. Treatment of the Salmonellosis.

The salmonellosis is the pluricausal infectious disease caused various serotypes of bacteria of sort Salmonella, is characterized by various clinical displays from asymptomatic carrier state up to heavy septic forms. In most cases of the salmonellosis proceeds with primary defeat of bodies of a digestive path (gastroenteritis, colitis). The activator of the Salmonellosis - greater group of salmonellas (family Enterobacteriaceae, sort Salmonella), numbering now more than 2200 serotypes.

Sources of the Salmonellosis are basically pets and the birds, however the certain value the person (plays also the patient, the carrier) as an additional source.

The basic way of infection at a salmonellosis - alimentary, caused by the use in food of products in which a plenty of salmonellas contains. Usually it is observed at wrong culinary processing. Treatment of a salmonellosis.
The incubatory period at a food way of infection with the Salmonellosis fluctuated from 6 h up to 3 days (more often 12-24). At nosocomial flashes when the contact-household way of transfer of an infection prevails, incubation a salmonellosis about 3-8 days are extended. Allocate following clinical forms of a salmonellosis:

- The gastrointestinal (localized), proceeding in stomachal, gastroenteritis, gastroenterocolitis and coloenteritis variants;
- The generalized form of a salmonellosis in the form of typhoid and septic variants;
- The diphtheriaphor: sharp, chronic and transient;
- The subclinical form of a salmonellosis;

Clinical forms of a salmonellosis differ and on weight of current.

The gastrointestinal form (a sharp gastritis, sharp gastroenteritis or gastroenterocolitis) - one of the most widespread forms of a salmonellosis (96-98 % of cases). Begins sharply, the body temperature (raises at heavy forms up to 39С and above), there is a general weakness, a headache, a fever, a nausea, vomiting, pains in epigastric and umbilical areas, frustration of a chair later joins. At some sick the salmonellosis in the beginning marks only a fever and attributes of the general intoxication, and changes from a gastroenteric path join a little bit later. They are Most expressed by the end of the first and for the second and third day from the beginning of disease by a salmonella. Expressiveness and duration of displays of a salmonellosis depend on weight.

At the easy form of a salmonellosis a body temperature subfebrile, vomiting unitary, a chair liquid aqueous up to 5 times day, duration of a diarrhea 1-3 days, loss of a liquid no more than 3 % of weight of a body. At the middle form of a salmonellosis the temperature raises up to 38-39оС, duration of a fever till 4 days, repeated vomiting, a chair up to 10 times day, duration of a diarrhea till 7 days; the tachycardia, downturn the AD are marked, can develop deaquation I-II degrees, loss of a liquid up to 6 % of weight of a body. Heavy current gastrointestinal forms of a salmonellosis is characterized by a high fever (above 39оС) which lasts 5 and more days, the expressed intoxication. Vomiting repeated, is observed within several days; the chair more than 10 times day, plentiful, aqueous, fetid, can be with an impurity of slime. The diarrhea proceeds till 7 days and more.

The increase in a liver and spleen is marked, is possible icteritiousness leather and sclera. The tachycardia, significant downturn the AD are observed cyanosis leather. Changes from kidneys come to light: oligohydruria, albuminuria, erythrocyte and cylinders in urine, the maintenance of residual nitrogen raises. Can develop sharp nephritic insufficiency. The water-salt exchange (deaquation II-III degrees) is broken, that is shown in dryness of a leather, blue disease, aphonia, spasmes. Losses of a liquid reach 7-10 % of weight of a body. In blood the level of hemoglobin and erythrocyte raises, is characteristic moderated leukocytosis with shift leukocytic formulas to the left.

The most frequent clinical variant at gastrointestinal a salmonellosis gastroenteritis. Destructive changes at a salmonellosis in a thick gut are registered only in 5-8 % of cases. Gastroenterology and colitis variants of a salmonellosis should be diagnosed only if in a clinical picture of disease displays colitis prevail and is available bacteriological or serologic acknowledgement of the diagnosis as these variants of a salmonellosis are rather similar on current to a sharp dysentery.

Read More......

Purpura

Definition

Purpura is purple-colored spots and patches that occur on the skin, on organs, and in mucous membranes, including the lining of the mouth.

Alternative Names

Blood spots; Skin hemorrhages

Considerations

Purpura occurs when small blood vessels under the skin leak.

When purpura spots are very small, they are called petechiae. Large purpura are called ecchymoses.

A person with purpura may have normal platelet counts (nonthrombocytopenic purpuras) or decreased platelet counts (thrombocytopenic purpuras). Platelets help the blood clot.

Causes

Nonthrombocytopenic purpuras may be due to:

• Drugs that affect platelet function
• Congenital cytomegalovirus
• Congenital rubella syndrome
• Fragile blood vessels (senile purpura)
• Pressure changes that occur during vaginal childbirth
• Vasculitis such as Henoch-Schonlein purpura

Thrombocytopenic purpura may be due to:

• Drugs that prevent platelets from forming
• Hemangioma
• Idiopathic thrombocytopenic purpura (ITP)
• Immune neonatal thrombocytopenia (can occur in infants whose mothers have ITP)
• Meningococcemia

When to Contact a Medical Professional

Call your doctor for an appointment if you have signs of purpura.

What to Expect at Your Office Visit

Your doctor will examine your skin and ask you questions about your medical history and symptoms, including:

• Is this the first time you have had such spots?
• When did they develop?
• What color are they?
• Do they look like bruises?
• What medications do you take?
• What other medical problems have you had?
• Does anyone in your family have similar spots?
• What other symptoms do you have?

A skin biopsy may be done.

References

Goldman L, Ausiello D. Cecil Textbook of Medicine. 22nd ed. Philadelphia, Pa: WB Saunders; 2004:2410.

Hoffman R, Benz EJ, Shattil SS, et al. Hematology: Basic Principles and Practice. 4th ed. Orlando, Fl: Churchill Livingstone; 2005.

Read More......

Presbyopia

Definition

Presbyopia is a condition in which the lens of the eye loses its ability to focus, making it difficult to see objects up close.

Causes

The condition is associated with aging and gets worse over time. The focusing power of the eye depends on the elasticity of the lens. This elasticity is gradually lost as people age. The result is a slow decrease in the ability of the eye to focus on nearby objects.

People usually notice the condition around age 45, when they realize that they need to hold reading materials further away in order to focus on them. Presbyopia is a natural part of the aging process and affects everyone.

Symptoms

• Decreased focusing ability for near objects
• Eyestrain
• Headache

Exams and Tests

The health care provider will perform a general eye examination, including measurements to determine a prescription for glasses or contact lenses.

Tests may include:

• Examination of the retina
• Muscle integrity test
• Refraction test
• Slit-lamp test
• Visual acuity

Treatment

Presbyopia can be corrected with glasses or contact lenses. In some cases, the addition of bifocals to an existing lens prescription is enough. As the ability to focus up close worsens, the prescription needs to be changed.

Around the age of 65, the eyes have usually lost most of the elasticity needed to focus up close. However, it will still be possible to read with the help of the right prescription. Even so, you may find it necessary to hold reading materials further away, and you may need larger print and more light by which to read.

People who do not need glasses for distance vision may only need half glasses or reading glasses.

With the use of contact lenses, some people choose to correct one eye for near and one eye for far vision. This is called "monovision" and eliminates the need for bifocals or reading glasses, but it can affect depth perception. There are also newer contact lenses that can correct for both near and far vision with the same lens.

New surgical procedures can also provide solutions for those who do not want to wear glasses or contacts.

Outlook (Prognosis)

Vision can be corrected with glasses or contact lenses.

Possible Complications

If it is not corrected, vision difficulty that gets worse over time can cause problems with driving, lifestyle, or work.

When to Contact a Medical Professional

Call your health care provider or ophthalmologist if you have eye strain or are less able to focus on close objects.

Prevention

There is no proven prevention for presbyopia.

Read More......

Nerve biopsy

Definition

A nerve biopsy is the removal of a small piece of a nerve for examination.

Alternative Names

Biopsy - nerve

How the Test is Performed

The sural nerve (in the ankle), or the superficial radial nerve (wrist) are the sites most often used for biopsy. A local anesthetic is used to numb the area. A small incision is made, and a portion of the nerve is removed. The sample is then examined using either a regular (light) microscopic or an electron microscope. Individual nerve fibers may also be examined.

How to Prepare for the Test

There is no special preparation.

Infants and children:

The preparation you can provide for this test depends on your child's age and experience. For general information regarding how you can prepare your child, see the following topics:

• Infant test or procedure preparation (birth to 1 year)
• Toddler test or procedure preparation (1 to 3 years)
• Preschooler test or procedure preparation (3 to 6 years)
• Schoolage test or procedure preparation (6 to 12 years)
• Adolescent test or procedure preparation (12 to 18 years)

How the Test Will Feel

The amount of pain during and after the procedure depends on the patient. Because a local anesthetic is used, discomfort during the procedure is usually minimal. The anesthetic may burn or sting when first injected. After the procedure, the area may feel tender or sore for a few days.

Why the Test is Performed

Nerve biopsy may be performed to help distinguish between demyelination (destruction of parts of the myelin sheath covering the nerve) and axon degeneration (destruction of the axon portion of the nerve cell), to identify inflammatory nerve conditions (neuropathies), or to confirm specific diagnoses.

Normal Results

There is normal nerve anatomy, with no abnormal growths or inclusions.

What Abnormal Results Mean

Conditions or disorders that may be revealed include:

• Necrotizing vasculitis
• Amyloidosis (sural nerve biopsy is most often used)
• Sarcoidosis
• Leprosy
• Metabolic neuropathies
• Inflammation of the nerve
• Loss of axon tissue
• Demyelination

Additional conditions under which the test may be performed:

• Alcoholic neuropathy
• Axillary nerve dysfunction
• Brachial plexopathy
• Charcot-Marie-Tooth disease (hereditary)
• Common peroneal nerve dysfunction
• Distal median nerve dysfunction
• Mononeuritis multiplex
• Mononeuropathy
• Necrotizing vasculitis
• Neurosarcoidosis
• Radial nerve dysfunction
• Tibial nerve dysfunction

Risks

• Permanent nerve damage (uncommon; minimized by careful site selection)
• Discomfort after the procedure
• Infection (a slight risk any time the skin is broken)
• Allergic reaction to the local anesthetic

Considerations

Nerve biopsy is invasive and is useful only in certain circumstances. These include diagnosis of asymmetric and multifocal nerve disorders, conditions in which a nerve is palpably enlarged (the enlargement can be felt with the fingers), and suspected inherited pediatric nerve disorders.

Read More......

Selective mutism

Definition

Selective mutism is a condition in which a child who can speak well stops speaking, usually in school or social settings.

Causes

Most experts believe that the causes of selective mutism involve the following factors:

• Anxiety
• Biological
• Environmental
• Social

Most children with this condition have some form of extreme social phobia.

Parents often think that the child is refusing to speak, but usually the child is truly unable to speak in certain settings.

Some affected children have a family history of selective mutism, extreme shyness, or anxiety disorders, which may increase their risk for similar problems. This condition is most common in children under age 5.

This syndrome is not the same as mutism. In selective mutism, the child has the ability to both understand and speak, but fails to speak in certain settings or environments. Children with mutism never speak.

Symptoms

• Ability to speak at home with family
• Failure to speak in certain social situations
• Fear of people
• Shyness

This pattern of mutism must be observed for at least 1 month. (The first month of school does not count, because shyness is common during this period.)

Exams and Tests

Teachers and counselors should consider cultural issues, such as recently moving to a new country and speaking another language. Children who are uncomfortable with a new language may not want to use it outside of a familiar setting. This is not necessarily selective mutism.

Treatment

Current treatment involves behavior changes, family participation, and the child's school. Certain medications that treat anxiety and social phobia have been used safely and successfully.

Support Groups

For more information and resources, see selective mutism support groups.

Outlook (Prognosis)

Children with this syndrome can have different outcomes. Some may need to continue therapy for shyness and social anxiety into the teenage years, and possibly into adulthood.

Possible Complications

Selective mutism can affect the child's ability to function in school or social settings. Without treatment, symptoms may get worse.

When to Contact a Medical Professional

Call your health care provider if your child has symptoms of selective mutism, and it is affecting school and social activities.

Read More......

Multiple Endocrine Neoplasia

- Diverse endocrine and metabolic infringements
- Symptoms are caused by infringements of secretion of one or several hormones
- Tumors often happen malignant
- The majority of tumors has a neuroectodermal origin
- Quite often syndromes of multiple endocrine neoplasia are accompanied of dysplasia of other organs and telas
- Both sporadic and family cases of multiple endocrine neoplasia are caused by genetic defects and inherited autosomal-dominant

The historical information:

- Communication between plural endocrine infringements and plural tumors of endocrine glands has been noticed by pathologists in the end of the last century. However modern representations about syndromes of multiple endocrine neoplasia have started to be formed in 50th years XX of a century. First Wermer has found out in several patients a combination of a hyperplasia of epithelial body, tumors of a hypophysis and tumors from insular cells and has suggested to name this syndrome plural endocrine adenomatosis (the modern name - multiple endocrine neoplasia type 1). A little bit later J. H. Sipple has described a syndrome including a medullar cancer of a thyroid gland and chromaffinoma. Today this syndrome can be named multiple endocrine neoplasia type 2a. Then R. N. Schimke has allocated a version of this syndrome, shown plural neuroma and other hereditary infringements (multiple endocrine neoplasia type 2b).

- Some hereditary syndromes, traditionally considered independent diseases, can be components of syndromes of multiple endocrine neoplasia. For example, the some endocrinologists consider Zollinger-Ellison syndrome as a component of multiple endocrine neoplasia type 1.

Genetics:

- All syndromes of multiple endocrine neoplasia are inherited autosomal-dominant and are characterized with high penetrance. In half of cases multiple endocrine neoplasia arises sporadically, i.e. is caused by again appeared mutation in sexual or somatic cells. The risk of disease at the child of the patient with sporadic multiple endocrine neoplasia makes 50 %. In families with multiple endocrine neoplasia the risk exceeds 75 %. Genealogic, cytogenetic and molecular-genetic researches have revealed the mutations underlying known types multiple endocrine neoplasia. These mutations can be found out by ПЦР with the subsequent hybridization about a site-specific oligonucleotides and to calculate individual and family risk of multiple endocrine neoplasia.

- Hypotheses. Tumors, characteristic for syndromes of multiple endocrine neoplasia, occur from cells of system APUD. According to the theory Pearse (1966), all cells of system APUD are derivatives of cells neuroectoderm (a nervous crest). Assume, that syndromes of multiple endocrine neoplasia are caused by mutations in cells of a nervous crest. These mutations are inherited by cells of endocrine glands and other cells of system APUD and lead to their tumoral transformation. In favour of this hypothesis existence of the so-called mixed types МЭН including hyperplasia of single cells of system APUD or tumours from such cells testifies. To mixed types of multiple endocrine neoplasia carry, for example, neurofibromatosis with attributes of multiple endocrine neoplasia types 1, 2а and 2b.

Against this hypothesis shows that fact, that at syndromes of multiple endocrine neoplasia quite often there are the new growths having an endodermal or a mesenchymal origin. It is not excluded, that the mutation causes transformation of cells only in one endocrine gland, and accompanying infringements have secondary character and are caused by hypersecretion of a hormone by cells of a primary tumour. It is known, for example, that at of multiple endocrine neoplasia type 1 hypersecretion of insulin by cells insulinoma causes hyperplasia of adenohypophysis.

Read More......

Brain tumor - children

Definition

A primary brain tumor is a group (mass) of abnormal cells that start in the brain. This article focuses on primary brain tumors in children.

See also:

• Brain tumor - metastatic (cancer that has spread to the brain)
• Brain tumor - adults

Alternative Names

Glioblastoma multiforme - children; Ependymoma - children; Glioma - children; Astrocytoma - children; Medulloblastoma - children; Neuroglioma - children; Oligodendroglioma - children; Meningioma - children; Cancer - brain tumor (children)

Causes

The cause of primary brain tumors is unknown. Primary brain tumors may be:

• Located in only a small area
• Invasive (spread to nearby areas)
• Benign (not cancerous)
• Malignant (cancerous)

Brain tumors are classified depending on the exact site of the tumor, the type of tissue involved, and whether or not it is cancerous. Brain tumors can directly destroy brain cells. They may also indirectly damage cells by pushing on other parts of the brain. This leads to swelling and increased pressure within the skull.

Tumors may occur at any age, but many specific tumors are more common at a specific age. However, most brain tumors are rare in the first year of life. Some of the most common childhood brain tumors include:

• Astrocytomas
• Brain stem gliomas
• Ependymomas
• Medulloblastomas

SPECIFIC TUMOR TYPES

Astrocytomas are usually non-cancerous, slow-growing cysts. They most commonly develop in children ages 5 - 8. The main treatment is surgery to remove the tumor.

Brainstem gliomas occur almost exclusively in children. The average age of development is about 6 years old. The tumor may grow very large before triggering symptoms. Surgery is usually not possible because of the tumor's location in the brain. Radiation and chemotherapy are used to shrink the tumor and prolong life. The 5-year survival rate is low.

Ependymomas make up about 8 - 10% of pediatric brain tumors. The tumors are located in tiny passageways (ventricles) in the brain, and block the flow of cerebrospinal fluid (CSF). Treatment may include surgery, radiation therapy, and chemotherapy.

Medulloblastomas are the most common type of childhood brain cancer. They occur more often in boys than girls, usually around age 5. Most medulloblastomas occur before the age of 10. Surgery alone does not cure this type of cancer. Chemotherapy and radiation are often used in combination with surgery.

See also: Craniopharyngioma

Symptoms

The specific symptoms vary, but may include:

• Decerebrate posture
• Decorticate posture
• Decreased coordination -- can cause falls
• Decreased sensation of a body area
• Fever (sometimes)
• General ill feeling
• Headache -- continues and is worse when the child wakes up
• Hearing loss
• Judgment problems
• Loss of memory
• Mood wings (emotional changes)
• Nausea
• Personality and behavior changes
• Reduced alertness
• Seizures
• Speech difficulties
• Vision problems, including double vision and decreased vision
• Vomiting -- more severe in the morning
• Weakness, lethargy
• Weakness of a body area

Infants may have the following signs and symptoms:

• Bulging fontanelles
• Increased head circumference
• No red reflex in the eye
• Opisthotonos
• Separated sutures

Additional symptoms that may be associated with primary brain tumors:

• Absent menstruation
• Breathing problems
• Confusion
• Dysfunctional movement
• Eye problems, including different sized pupils, uncontrollable eye movements, and eyelid drooping
• Facial paralysis
• Hand tremor
• Hiccups
• Obesity
• Problems with the sense of smell
• Swallowing difficulty
• Tongue problems
• Uncontrollable movement

Exams and Tests

The health care provider will perform a physical exam. The child may have a positive Babinski's reflex. The physical exam can often identify signs and symptoms that are specific to the location of the tumor. However, some tumors may not cause symptoms until they are very large and cause a rapid decline in the child's mental function.

The following tests may be used to detect a brain tumor and identify its location:

• CT-guided biopsy (may confirm the exact type of tumor)
• CT scan of the head
• EEG
• Examination of the cerebral spinal fluid (CSF)
• MRI of the head

Treatment

Early treatment often improves the chance of a good outcome. Treatment, however, depends on the size and type of tumor and the general health of the child.

The goals of treatment may be to cure the tumor, relieve symptoms, and improve brain function or the child's comfort.

Surgery is necessary for most primary brain tumors. Some tumors may be completely removed. Those that are deep inside the brain or that enter brain tissue may be debulked instead of entirely removed. Debulking is a procedure to reduce the tumor's size.

In cases where the tumor cannot be removed, surgery may still help reduce pressure and relieve symptoms.

Radiation therapy and chemotherapy may be used for certain tumors.

Other medications used to treat primary brain tumors in children may include:

• Corticosteroids such as dexamethasone to reduce brain swelling
• Diuretics such as urea or mannitol to reduce brain swelling and pressure
• Anti-convulsants such as phenytoin to reduce seizures
• Pain medications

Comfort measures, safety measures, physical therapy, occupational therapy, and other such steps may be required to improve quality of life. Counseling, support groups, and similar measures may be needed to help in coping with the disorder.

Support Groups

For additional information, see cancer resources.

Possible Complications

• Brain herniation (often deadly)
• Permanent, progressive, profound neurological problems
• Loss of ability to interact or function
• Side effects related to chemotherapy and radiation
• Tumor returns

When to Contact a Medical Professional

Call a health care provider if a child develops persistent headaches or other symptoms of a brain tumor.

Go to the emergency room if a child has a seizure that is unusual or suddenly develops stupor (reduced alertness), vision changes, or speech changes.

References

Buckner JC, Brown PD, O'Neill BP, Meyer FB, Wetmore CJ, Uhm JH. Central nervous system tumors. Mayo Clin Proc. Oct 2007;82(10):1271-86.

Read More......

Spinal muscular atrophy

Definition

Spinal muscular atrophy is a group of inherited diseases that cause progressive muscle degeneration and weakness, eventually leading to death.

Alternative Names

Werdnig-Hoffmann disease

Causes

Spinal muscular atrophy (SMA) is a collection of different muscle diseases. Grouped together, it is the second leading cause of neuromuscular disease. Most of the time, a person must get the defective gene from both parents to be affected. Approximately 4 out of every 100,000 people have the condition.

The most severe form is SMA type I, also called Werdnig-Hoffman disease. Infants with SMA type II have less severe symptoms during early infancy, but they become progressively weaker with time. SMA type III is the least severe form of the disease.

Rarely, SMA may begin in adulthood. This is usually a milder form of the disease.

A family history of spinal muscular atrophy is a risk factor for all types of the disorder.

Symptoms

Infants with SMA type 1 are born with very little muscle tone, weak muscles, and feeding and breathing problems. With SMA type III, symptoms may not appear until the second year of life.

Often, weakness is first noted in the shoulder muscles and proximal leg muscles. Weakness gets worse over time and will eventually become severe.

Symptoms in an infant:

• Breathing difficulty
• Feeding difficulty
• Floppy infant (poor muscle tone)
• Lack of head control
• Little spontaneous movement
• Progressive weakness (older infant to toddler)
• Very weak infant

Symptoms in a child:

• Frequent, increasingly severe respiratory infections
• Nasal speech
• Worsening posture

Exams and Tests

The health care provider will take a careful history and perform a brain/nervous system (neurologic) examination to find out if there is:

• A family history of neuromuscular disease
• Floppy (flaccid) muscles
• No deep tendon reflexes
• Twitches (muscle fasciculation) of tongue muscle

Tests:

• CPK levels
• DNA testing to confirm diagnosis
• Electromyography
• MRI of the spine
• Muscle biopsy

Treatment

There is no treatment for the progressive weakness caused by the disease. Supportive care is important. Attention must be paid to the respiratory system, because affected people have difficulty clearing secretions. Respiratory complications are common.

Physical therapy is important to prevent contractions of muscles and tendons and abnormal curvature of the spine (scoliosis). Bracing may be necessary.

Outlook (Prognosis)

The lifespan in SMA type 1 is seldom longer than 2 - 3 years. Survival time with type II is longer, but the disease kills most of those affected while they are still children. Children with type III disease may survive into early adulthood. However, people with all forms of the disease have worsening weakness and debility.

Possible Complications

• Aspiration
• Contractions of muscles and tendons
• Respiratory infections
• Scoliosis

When to Contact a Medical Professional

Call your health care provider if your child:

• Appears weak
• Develops any other symptoms of spinal muscular atrophy
• Has difficulty feeding

Breathing difficulty can rapidly become an emergency condition.

Prevention

Genetic counseling is recommended for prospective parents with a family history of spinal muscular atrophy.

References

Kliegman RM, Behrman RE, Jenson HB, Stanton BF. The hip. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Elsevier;2007:chap 606.

Read More......