Diseases Treatment

What do doctors call these conditions?

Spina bifida, meningocele, myelomeningocele

What are these conditions?

Defective neural tube closure in the embryo during the first trimester of pregnancy causes various spinal malformations. Generally, these defects occur in the lumbosacral area, but they are occasionally found in the sacral, thoracic, and cervical areas.

Spina bifida occulta is the most common and least severe spinal cord defect. Although one or more vertebrae fail to close completely, the spinal cord or meninges (membranes covering the brain and spinal cord) do not protrude.

However, in more severe forms of spina bifida, incomplete closure of one or more vertebrae causes the spinal contents to protrude and form an external sac or cystic lesion. In spina bifida with meningocele, this sac contains meninges and cerebrospinal fluid. In spina bifida with myelomeningocele, this sac contains meninges, cerebrospinal fluid, and a portion of the spinal cord or nerve roots distal to the conus medullaris.

Spina bifida is relatively common, affecting about 5% of the population. In the United States, approximately 12,000 infants each year are born with some form of spina bifida.

The prognosis varies with the degree of accompanying neurologic deficit. It’s worst in people with large open lesions, neurogenic bladders (which predispose to infection and kidney failure), or total paralysis of the legs. Because such features are usually absent in spina bifida occulta and meningocele, the prognosis is much better than in myelomeningocele, and many people with these conditions can lead normal lives.

What causes them?

Normally, about 20 days after conception, the embryo develops a neural groove in the dorsal area. This groove rapidly deepens, and the two edges come together to form the neural tube. By about day 23, this tube is completely closed except for an opening at each end. If the posterior portion of the neural tube fails to close by the fourth week of pregnancy, or if it closes but then splits open from a cause such as an abnormal increase in cerebrospinal fluid later in the first trimester, a spinal defect is likely to result.

Viruses, radiation, and other environmental factors may be responsible for such defects. However, spinal cord defects occur more often in offspring of women who have previously had children with similar defects, so genetic factors may contribute.

What are their symptoms?

Spina bifida occulta is often accompanied by skin abnormalities­such as a depression or dimple, tuft of hair, soft fatty deposits, port-wine nevi (skin discoloration), or a combination of these -located over the spinal defect; however, such signs may be absent. Spina bifida occulta doesn’t usually cause neurologic dysfUnction but occasionally is associated with foot weakness or bowel and bladder disturbances. Such disturbances are especially likely during rapid growth phases.

In both meningocele and myelomeningocele, a saclike structure protrudes over the spine. Like spina bifida occulta, meningocele rarely causes neurologic deficits. But myelomeningocele, depending on the level of the defect, causes permanent neurologic dysfUnction, such as flaccid or spastic paralysis and bowel and bladder incontinence.

How are they diagnosed?

Spina bifida occulta is often overlooked, although it’s occasionally palpable and spinal X-ray can show the bone defect. Myelography can differentiate it from other spinal abnormalities, especially spinal cord tumors.

Meningocele and myelomeningocele are obvious on examination; backlighting the protruding sac can sometimes distinguish between them. (Light typically passes through a meningocele, but not through a myelomeningocele.) In myelomeningocele, a pinprick exam of the legs and trunk shows the level of sensory and motor involvement; skull X-rays, skull measurements, and computed tomography scan (commonly called a CAT scan) demonstrate associated fluid in the brain. Other appropriate lab tests in people with myelomeningocele include urinalysis, urine cultures, and tests for kidney function – starting in the neonatal period and continuing at regular intervals.

Although amniocentesis can detect only open spinal defects, this procedure is recommended for all pregnant women who have previously had children with spinal cord defects because there is a greater risk of having another child with similar defects. If these defects are present in the fetus, amniocentesis shows increased alpha-fetoprotein levels by the 14th week of pregnancy. Ultrasonography can also detect or confirm the presence and extent of neural tube defects.

How are they treated?

Spina bifida occulta usually requires no treatment. Treatment of meningocele consists of surgical closure of the protruding sac and continual assessment of growth and development. Treatment of myelomeningocele requires repair of the sac and supportive measures to promote independence and prevent further complications. Surgery doesn’t reverse neurologic deficits. A shunt may be inserted to relieve associated fluid in the brain.

Rehabilitation measures may include waist supports, long leg braces, walkers, crutches, and other orthopedic appliances; diet and bowel training to manage fecal incontinence; neurogenic bladder management to reduce urinary stasis; possibly intermittent catheterization; and antispasmodics such as Urecholine or Pro-Banthine. In severe cases, insertion of an artificial urinary sphincter is often successful; urinary diversion is used as a last resort to preserve kidney function.

What is this Condition?

This condition involves an abnormal twisting of the spermatic cord caused by rotation of a testicle or the mesorchium (a fold in the area

between the testicle and epididymis), which causes strangulation and, if untreated, eventual infarction (tissue death) in the testicle. This twisting almost always occurs only on one side.

Testicular twisting is most common between ages 12 and 18, but it may occur at any age. The prognosis is good with early detection and prompt treatment.

What Causes it?

Normally, the tunica vaginalis (internal pouch) envelops the testicle and attaches to the epididymis and spermatic cord. Testicular twisting may result from an abnormality of the tunica, in which the testicle is abnormally positioned, or from a narrowing of supporting tissues. In newborns, loose attachment of the tunica vaginalis to the scrotal lining may cause spermatic cord rotation above the testicle. A sudden forceful contraction of the cremaster muscle may precipitate this condition.

What are its Symptoms?

Twisting produces excruciating pain in the affected testicle.

How is it Diagnosed?

A physical exam reveals tense, tender swelling in the scrotum or inguinal canal and hyperemia of the overlying skin. Ultrasound helps distinguish testicular twisting from strangulated hernia, undescended testicles, or epididymitis.

How is it Treated?

Treatment consists of immediate surgical repair by orchiopexy (fixation of a viable testicle to the scrotum) or orchiectomy (excision of a nonviable testicle).

Dyspareunia

What is this Condition?

Genital pain associated with intercourse may be mild, or it may be severe enough to affect enjoyment of intercourse. Painful intercourse is commonly associated with physical problems; less commonly, with psychological disorders. The prognosis is good if the underlying cause can be treated successfully.

What Causes it?

Painful intercourse may result from either physical or psychological causes.

What are its Symptoms?

Painful intercourse produces discomfort, ranging from mild aches to severe pain before, during, or after intercourse. It also may be associated with vaginal itching or burning.

How is it Diagnosed?

A physical exam and lab tests help determine the underlying cause. Diagnosis also depends on a detailed sexual history to elicit physical and temporal factors contributing to the pain.

How is it Treated?

Treatment of physical causes may include creams and water-soluble gels for inadequate lubrication, appropriate medications for infections, excision of scars on the hymen, and gentle stretching of painful vaginal scars. The woman may be advised to change her position during intercourse to reduce pain on deep penetration.

Treatment of psychologically based painful intercourse varies with the particular person. Sensate focus exercises deemphasize intercourse itself and teach appropriate foreplay techniques. Teaching contraception methods can reduce the fear of pregnancy; teaching about sexual activity during pregnancy can relieve fear of harming the fetus.

Vaginismus

What is this Condition?

Vaginal spasms are involuntary spastic constrictions of the lower vaginal muscles, usually caused by fear of vaginal penetration. It may coexist with painful intercourse and, if severe, may prevent successful intercourse. The condition affects women of all ages and back­grounds. The prognosis is excellent for a motivated woman who doesn’t have untreatable physical abnormalities.

What Causes it?

Vaginal spasms may be physical or psychological in origin. They may occur spontaneously as a protective reflex to pain, or they may result from organic causes, such as hymen abnormalities, genital herpes, obstetric injury, and atrophic vaginitis.

Psychological causes may include:

• childhood and adolescent exposure to rigid, punitive, and guilt­ridden attitudes toward sex

• fears resulting from painful or traumatic sexual experiences, such as incest or rape

• early traumatic experience with pelvic exams

• fear of pregnancy, venereal disease, or cancer.

What are its Symptoms?

The woman with this disorder typically experiences muscle spasms with pain when any object-such as a tampon, diaphragm, or speculum-is inserted into her vagina. She may express a lack of interest in sex or have a normal level of sexual desire.

How is it Diagnosed?

Diagnosis requires a sexual history and pelvic exam to rule out physical disorders. The sexual history includes early childhood experiences and family attitudes toward sex, previous and current sexual responses, contraceptive practices and reproductive goals, the woman’s feelings about her sexual partner, and specific details about the pain she feels on insertion of any object into the vagina.

A carefully performed pelvic exam confirms the diagnosis by showing involuntary constriction of the muscles surrounding the outer portion of the vagina.

How is it Treated?

Treatment is designed to eliminate abnormal muscle constriction and underlying psychological problems. In Masters and Johnson therapy, the woman inserts a graduated series of dilators into her vagina while tensing and relaxing her pelvic muscles. She controls the time the dilator is left in place and dilator movement. Together with her sexual partner, she begins sensate focus and counseling therapy to increase sexual responsiveness, improve communication skills, and resolve any underlying conflicts.

What are these Conditions?

Chlamydial infections – including urethritis in men and urethritis and cervicitis in women – comprise a group of infections linked to one bacteria: Chlamydia trachomatis. These infections are the most common sexually transmitted diseases in the North America, affecting more than 4 million people each year.Untreated chlamydial infections can lead to such complications as acute inflammation of the epididymis (in men) and of the fallopian tubes (in women), pelvic inflammatory disease and, eventually, sterility.

What Causes them?

Transmission of C. trachomatis bacteria primarily follows vaginal or rectal intercourse or oral-genital contact with an infected person. Because symptoms commonly appear late in the course of the disease, transmission usually occurs unknowingly.

Children born of mothers who have chlamydial infections may contract associated conjunctivitis, ear infections, and pneumonia during passage through the birth canal.

What are their Symptoms?

Both men and women with chlamydial infections may have no symptoms or may show signs of infection during the physical exam. Individual signs and symptoms vary with the specific type of chlamydial infection.

How are they Diagnosed?

Lab tests provide a definite diagnosis of chlamydial infection. A swab culture from the site of infection (urethra, cervix, or rectum) establishes a diagnosis of urethritis, cervicitis, salpingitis, endometritis, or proctitis.

How are they Treated?

The recommended first-line treatment for adults and adolescents with a chlamydial infection is Vibramycin by mouth for 7 days or a single dose of Zithromax by mouth.

For pregnant women with a chlamydial infection, E-Mycin is the treatment of choice.

What are these Conditions?

Arousal and orgasmic disorders are disorders of female sexual function. A woman with arousal disorder can’t experience sexual pleasure because she cant reach or maintain the physical responses of sexual excitement – vaginal lubrication, blood vessel congestion in the genital area, and swelling of external genitalia. In orgasmic disorder, the woman becomes sexually excited but can’t reach orgasm or has a delayed orgasm. These problems are considered disorders only if they persist or recur.

The prognosis is good when these disorders are temporary or mild and result from misinformation or stress. However, when they’re caused by intense anxiety, relationship problems, psychological disturbances, or drug or alcohol abuse in either partner, the prognosis is less certain.

What Causes them?

Any of the following factors, alone or in combination, may cause arousal or orgasmic disorder:

• drugs (central nervous system depressants, alcohol, street drugs and, rarely, oral contraceptives)

• disease (illness of the body as a whole, endocrine or nervous system diseases, or diseases that impair muscle tone or muscle contraction)

• gynecologic factors (chronic vaginal or pelvic infection or pain, congenital abnormalities, and genital cancers)

• psychological factors (performance anxiety, guilt, depression, or subconscious conflicts about sexuality)

• relationship problems (poor communication, hostility toward the partner, fear of abandonment, or boredom with sex)

• stress and fatigue.

What are their Symptoms?

The woman with an arousal disorder has slight sexual desire and responds poorly to stimulation. Typically, she lacks vaginal lubrication and signs of congested blood vessels in the genital area.

In an orgasmic disorder, the main symptom is an inability to achieve an orgasm, either totally or under certain circumstances. Many women experience orgasm through masturbation or other means but not through intercourse alone. Others achieve orgasm with some partners but not with others.

How are they Diagnosed?

To rule out physical causes of arousal or orgasmic disorders, the doctor performs a thorough physical exam, orders lab tests, and takes a medical history. When physical causes are absent, a complete psycho­sexual history is the most important tool.

How are they Treated?

An arousal disorder is hard to treat, especially if the woman has never experienced sexual pleasure. Therapy aims to help her relax and become aware of her feelings about sex, as well as to eliminate guilt and fear of rejection. Specific measures usually include sensate focus exercises, which emphasize touching and awareness of sensual feelings all over the body – not just in the genital area – and minimize the importance of intercourse and orgasm.

In orgasmic disorder, the goal is to help the woman overcome her inhibition of the orgasmic reflex. Treatment may include experiential therapy, psychoanalysis, or behavior modification. The therapist may teach the woman self-stimulation and distraction techniques, such as focusing attention on fantasies, breathing patterns, or muscle contractions to relieve anxiety. Gradually, the therapist involves the woman’s sexual partner in the treatment sessions; some therapists treat the couple as a unit from the outset.

What can a Woman with Arousal or Orgasmic Disorder do?

Consult a doctor, nurse, psychologist, social worker, or counselor trained in sex therapy. The therapist should be certified by the American Association of Sex Educators, Counselors, and Therapists or by the Society for Sex Therapy and Research. If not, ask about the therapist’s credentials.