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Tuesday, April 15, 2008

Dyspepsia

Dyspepsia, meaning hard or difficult digestion, is chronic or recurrent pain or discomfort centered in the upper abdomen Discomfort, in this context, includes mild pain, upper abdominal fullness and feeling full earlier than expected with eating. It can be accompanied by bloating, belching, nausea or heartburn. Many people get dyspepsia. It is often caused by lifestyle factors, such as smoking and diet, but there are some serious causes such as cancer of the stomach, peptic ulcer disease and some medications. When people have dyspepsia but no risk factors for any of the serious causes, it can be labeled undifferentiated dyspepsia and treated without further investigations. When people have been investigated for dyspepsia but no cause has been found it can be labeled as functional dyspepsia.

Symptoms:
It is essential to inquire about the following ALARMS Symptoms when assessing dyspepsia

* Anaemia.
* Loss of Weight.
* Anorexia.
* Recent onset of progressive symptoms.
* Melaena or haematemesis.
* Swallowing difficulties.

Treatment:
Functional and undifferentiated dyspepsia have similar treatments. Decisions around the use of drug therapy are difficult because trials included heartburn in the definition of dyspepsia. This led to the results favoring proton pump inhibitors (PPIs), which are questionably effective for the treatment of heartburn.

Traditional therapies used for this diagnosis include lifestyle modification, antacids, H2-receptor antagonists (H2-RAs), prokinetic agents, and antiflatulents. It is has been noted that one of the most frustrating aspects of treating functional dyspepsia is that these traditional agents have been shown to have little or no efficacy.

Antacids and sucralfate were found to be no better than placebo in a literature review. H2-RAs have been shown to have marked benefit in poor quality trials (30% relative risk reduction), but only a marginal benefit in good quality trials. Prokinetic agents would empirically seem to work well since delayed gastric emptying is considered a major pathophysiological mechanism in functional dyspepsia. They have been shown in a meta-analysis to produce a relative risk reduction of up to 50%, but the studies evaluated to come to this conclusion used the drug cisapride which has since been removed from the market (now only available as an investigational agent due to serious adverse events such as torsades¬, and publication bias has been cited as a potential partial explanation for such a high benefit. Modern prokinetic agents such as metoclopramide, erythromycin and tegaserod have little or no established efficacy and often result in substantial side effects. Simethicone has been found to be of some value, as one trial suggests potential benefit over placebo and another shows equivalence with cisapride. So, with the somewhat recent advent of the proton pump inhibitor (PPI) class of medications, the question of whether these new agents are superior to traditional therapy has arisen.

A 2004 meta-analysis pooling data from three double-blind placebo-controlled studies found the multiple herbal extract Iberogast to be significantly more effective than placebo (p value = 0.001) at treating patients with functional dyspepsia through the targeting of multiple dyspeptic pathologies. This German-made phytopharmaceutical was found to be equivalent to cisapride and significantly superior to metochlopramide at reducing the symptoms of functional dyspepsia over a four week period. Retrospective surveillance of 40,961 children (12 years and under) found no serious side-effects.

Currently, PPIs are, depending on the specific drug, FDA indicated for erosive esophagitis, gastroesophageal reflux disease (GERD), Zollinger-Ellison syndrome, eradication of H. pylori, duodenal and gastric ulcers, and NSAID-induced ulcer healing and prevention, but not functional dyspepsia. There are, however, evidence-based guidelines and literature that evaluate the use of PPIs for this indication. A helpful chart summarizing the major trials is available from the functional dyspepsia guidelines published in the World Journal of Gastroenterology in 2006.

The CADET study was the first to compare a PPI (omeprazole 20mg daily) to both an H2-RA (ranitidine 150mg BID) as well as a prokinetic agent (cisapride 20mg BID) alongside placebo. The study evaluated these agents in patients at 4 weeks and 6 months and noted that omeprazole had a significantly better response at 6 months (31%) than cisapride (13%) or placebo (14%) (p = 0.001) while it was just above the cutoff for being statistically significantly better than ranitidine (21%) (p = 0.053). Omeprazole also showed a significant increase in quality of life scores over the other agents and placebo in all but one category measured (p = 0.01 to 0.05).

The ENCORE study, which was a follow-up of patients from the OPERA study, showed responders to omeprazole therapy had fewer clinic visits than non-responders (1.5 vs 2.0) over a three month period (p < 0.001).

Dyspareunia

Dyspareunia is painful sexual intercourse, due to medical or psychological causes. The term is used almost exclusively in women, although the problem can also occur in men. The causes are often reversible, even when long-standing, but self-perpetuating pain is a factor after the original cause has been removed. Dyspareunia is considered to be primarily a physical, rather than an emotional, problem until proven otherwise. In most instances of dyspareunia, there is an original physical cause. Extreme forms, in which the woman's pelvic floor musculature contracts involuntarily, is termed vaginismus.

Painful intercourse can be difficult to talk about. If you're experiencing painful intercourse, you may wonder if the pain is all in your head or the result of something you're doing wrong in bed. After all, sex is supposed to be pleasurable, right?

The truth is that sex isn't pleasurable or pain-free for all women all the time. In fact, many women experience painful intercourse at some point in their lives, for a variety of very normal reasons. The medical term for painful intercourse is dyspareunia — which is defined as persistent or recurrent genital pain that occurs just before, during or after intercourse and that causes you personal distress. And painful intercourse is worth talking about, because there are treatments that can help eliminate or reduce this common problem.

Causes:
Causes of painful intercourse vary by the location of the pain.

Causes of entry pain-
Pain during penetration may be associated with a range of factors, including:

* Inadequate lubrication. This is often the result of not enough foreplay. Inadequate lubrication is also commonly caused by a drop in estrogen levels after menopause, after childbirth or during breast-feeding. In addition, certain medications are known to inhibit desire or arousal, which can decrease lubrication and make sex painful. These include antidepressants, high blood pressure medications, sedatives, antihistamines and certain birth control pills.
* Injury, trauma or irritation. This includes injury or irritation from an accident, pelvic surgery, female circumcision, episiotomy or a congenital abnormality.
* Inflammation, infection or skin disorder. An infection in your genital area or urinary tract can cause painful intercourse. Eczema or other skin problems in your genital area also can be the problem.
* Reactions to birth control products. It's possible to have an allergic reaction to foams, jellies or latex. Pain may also be caused by an improperly fitted diaphragm or cervical cap.
* Vaginusmus. Involuntary spasms of the muscles of the vaginal wall (vaginismus) can make attempts at penetration very painful.
* Vestibulitis. Painful penetration also occurs in a condition called vestibulitis, which is characterized by unexplained stinging or burning around the opening of your vagina.

Causes of deep pain-
Deep pain usually occurs with deep penetration and may be more pronounced with certain positions. Causes include:

* Certain illnesses and conditions. The list includes endometriosis, pelvic inflammatory disease, uterine prolapse, retroverted uterus, uterine fibroids, cystitis, irritable bowel syndrome, hemorrhoids and ovarian cysts.
* Infections. An infection of your cervix, uterus or fallopian tubes can cause deep pain.
* Surgeries or medical treatments. Scarring from surgeries that involve your pelvic area, including hysterectomy, can sometimes cause painful intercourse. In addition, medical treatments for cancer, such as radiation and chemotherapy, can cause changes that make sex painful.

Emotional factors-
Emotions are deeply intertwined with sexual activity and may play a role in any type of sexual pain. Emotional factors include:

* Psychological problems. If you experience anxiety, depression, concerns about your physical appearance, fear of intimacy or relationship problems, it can contribute to painful intercourse.
* Stress. Your pelvic floor muscles are very sensitive to stress. So stress can lead to painful intercourse.
* History of sexual abuse. Most women with dyspareunia don't have a history of sexual abuse, but if you have been abused, it may play a role.

Sometimes, it can be difficult to tell whether psychological factors are a cause or result of dyspareunia. Initial pain can lead to fear of recurring pain, making it difficult to relax, which can lead to more pain.

Symptoms:
Researchers estimate that up to 60 percent of women experience episodes of genital pain that occurs just before, during or after intercourse. But the location of pain and frequency of pain varies greatly. If you experience painful intercourse, you may feel:

* Pain with every penetration, even while putting in a tampon.
* Pain with certain partners or just under certain circumstances.
* New pain after previously pain-free intercourse.
* Superficial (entry) pain.
* Deep pain during thrusting, which is often described as "something being bumped".
* Burning pain or aching pain.

Most women with dyspareunia complain of superficial pain, which occurs upon penetration.

Diagnosis:
If you have recurrent pain during sex, talking to your doctor is the first step in resolving it. Primary care doctors and gynecologists often ask about sex and intimacy as part of a routine medical visit, and you can take this opportunity to discuss your concerns. Your regular doctor may diagnose and treat the problem or refer you to a specialist who can.

A medical evaluation for dyspareunia usually consists of:

A thorough medical history- Your doctor may ask when your pain began, exactly where it hurts, how it feels, and if it happens with every sexual partner and every sexual position. Your doctor may also inquire about your sexual history, surgical history and previous childbirth experiences. Don't let embarrassment stop you from giving candid answers. These questions provide clues to the cause of your pain.
A pelvic examination- During a pelvic exam, your doctor can check for signs of skin irritation, infection or anatomical problems. He or she may also try to identify the location of your pain through gentle touch of the genital area and pelvic muscles, and a speculum examination of the vagina. Some women who experience painful intercourse are also uncomfortable during a pelvic exam, no matter how gentle the doctor is. You can ask to stop the exam at any time if it's too painful.
Additional tests- If your doctor suspects certain causes of painful intercourse, he or she might also recommend a pelvic ultrasound or laparoscopy — a minor surgical procedure in which a slender viewing instrument (laparoscope) is used to view your pelvic organs.

Treatment:
Painful intercourse used to be viewed primarily as a psychological problem that required psychological treatment. Fortunately, that view is outdated. Researchers and doctors now understand the many causes of dyspareunia and recommend an integrated, multifaceted treatment approach. Your particular treatment depends on the underlying cause of your pain, but treatment may include:

Hygiene habits
Avoid scented bath products, such as body washes and shower gels. These products can irritate your genital area and zap your natural lubrication, particularly if you overuse them. Skip douching as well.

Sexual techniques and counseling
You and your partner may be able to minimize pain with a few changes to your sexual routine:

Switch positions- If you experience sharp pain during thrusting, the penis may be striking your cervix or stressing the pelvic floor muscles, causing aching or cramping pain. Changing positions may help. You can try being on top of your partner during sex. Women usually have more control in this position, so you may be able to regulate penetration to a depth that feels good to you.
Communicate- Talk about what feels good and what doesn't. If you need your partner to go slow, say so.
Don't rush to the main event- Longer foreplay can help stimulate your natural lubrication. And you may reduce pain by delaying penetration until you feel fully aroused.
Use lubricants- A water-based lubricant, such as K-Y jelly or Astroglide, can make sex more comfortable. If contraceptive creams cause irritation or dryness, try a different preparation or ask your doctor about switching to another type of birth control.

Medications and therapies
In some cases, medications or therapy are necessary to treat painful intercourse.

Treating underlying conditions- If an infection or medical condition is contributing to your pain, treating the underlying cause may resolve your problem. Changing medications known to cause lubrication problems also may eliminate your symptoms.
Estrogen therapy- For most postmenopausal women, dyspareunia is caused by inadequate lubrication resulting from low estrogen levels. Often, this can be treated with a prescription cream, tablet or flexible vaginal ring.
Other medications- In some cases, your doctor may suggest an oral prescription pain medication or injections of pain medications into the site of the pain.
Desensitization therapy- During this therapy, you learn vaginal relaxation exercises that can decrease pain. Your therapist may recommend pelvic floor exercises (Kegel exercises) or other techniques to decrease pain with intercourse.
Counseling or sex therapy- If sex has been painful for a long time, you may experience a negative emotional response to sexual stimulation even after treatment. If you and your partner have avoided intimacy because of painful intercourse, you may also need help improving communication with your partner and restoring sexual intimacy. Talking to a counselor or sex therapist can help resolve these issues.

Dysmenorrhea

Dysmenorrhea (or dysmenorrhoea) is a medical condition characterized by severe uterine pain during menstruation. While many individuals experience minor pain during menstruation, dysmenorrhea is diagnosed when the pain is so severe as to limit normal activities, or require medication.

Dysmenorrhea can feature different kinds of pain, including sharp, throbbing, dull, nauseating, burning, or shooting pain. Dysmenorrhea may precede menstruation by several days or may accompany it, and it usually subsides as menstruation tapers off. Dysmenorrhea may coexist with excessively heavy blood loss, known as menorrhagia.

Secondary dysmenorrhea is diagnosed when symptoms are attributable to an underlying disease, disorder, or structural abnormality either within or outside the uterus. Primary dysmenorrhea is diagnosed when none of these are detected.

Primary dysmenorrhoea-
The main symptom of dysmenorrhea is pain centering in the lower abdomen, which may radiate to the thighs and lower back. Other symptoms may include nausea and vomiting, diarrhea, headache, and fatigue. Symptoms of dysmenorrhea usually begin a few hours before the start of menstruation, and may continue for a few days.
In one research study using MRI, visible features of the uterus were compared in dysmenorrheic and eumenorrheic (normal) participants. The study concluded that in dysmenorrheic patients, visible features on cycle days 1-3 correlated with the degree of pain, and differed significantly from the control group.
Several nutritional supplements have been indicated as effective in treating dysmenorrhea, including omega-3 fatty acids, magnesium, vitamin E, zinc, and thiamine (vitamin B1).
Research indicates that one mechanism underlying dysmenorrhea is a disturbed balance between antiinflammatory, vasodilator eicosanoids derived from omega-3 fatty acids, and proinflammatory, vasoconstrictor eicosanoids derived from omega-6 fatty acids. Several studies have indicated that intake of omega-3 fatty acids can reverse the symptoms of dysmenorrhea, by decreasing the amount of omega-6 FA in cell membranes. The richest dietary source of omega-3 fatty acids is found in flax oil.
Oral intake of magnesium has also been indicated in providing relief: two double-blind, placebo-controlled studies demonstrated a positive therapeutic effect of magnesium on dysmenorrhea. A randomized, double-blind, controlled trial demonstrated that oral intake of vitamin E relieves the pain of primary dysmenorrhea and reduces blood loss. A review of case histories indicated that zinc, in 1 to 3 30-milligram doses given daily for one to four days prior to onset of menses, prevents essentially all to all warning of menses and all menstrual cramping. Intake of thiamine (vitamin B1) was demonstrated to provide "curative" relief in 87% of females experiencing dysmenorrhea, in a controlled study.

Secondary dysmenorrhoea-
The symptoms of secondary dysmenorrhea vary with the underlying cause, but are similar to those of primary dysmenorrhea. While the symptoms of primary dysmenorrhea are generally limited to the time around menses, in secondary dysmenorrhea, they may extend further through the menstrual cycle.
The most effective treatment of secondary dysmenorrhea is the identification and treatment of the underlying cause of the pain. The first line of treatment is medical; if possible, the underlying medical disorder or anatomic abnormality is corrected. Dilation of a narrow cervical os may give 3 to 6 months of relief, and allows diagnostic curettage if needed. Myomectomy, polypectomy, or dilation and curettage may be needed. In patients with adenomyosis, the levonorgestrel intrauterine system (Mirena) was observed to provide relief.

Dyslexia

Dyslexia is a learning disability that manifests primarily as a difficulty with written language, particularly with reading and spelling. It is separate and distinct from reading difficulties resulting from other causes, such as a non-neurological deficiency with vision or hearing, or from poor or inadequate reading instruction.

Evidence suggests that dyslexia results from differences in how the brain processes written and/or verbal language. Although dyslexia is the result of a neurological difference, it is not an intellectual disability. Dyslexia occurs at all levels of intelligence; sub-average, average, above average, and highly gifted.

According to the findings of a University of Hong Kong study, dyslexia affects different structural parts of children's brains depending on the language they read. The study focused on comparing children that were raised reading English and children raised reading Chinese. Using MRI technology researchers found that the children reading English used a different part of the brain than those reading Chinese. Researchers were surprised by this discovery and hope that the findings will help lead them to any neurobiological cause for dyslexia.

Causes:
A learning disability is a condition that produces a gap between someone's ability and his or her performance. Most people with dyslexia are of average or above-average intelligence, but read at levels significantly lower than expected. Other types of learning disabilities include attention difficulties, an inability to perform well at writing skills and an inability to perform well at math skills.

The cause of dyslexia seems to be a malfunction in certain areas of the brain concerned with language. The condition frequently runs in families.

Symptoms:
Dyslexia can be difficult to recognize before your child enters school, but some early clues may indicate a problem. If your young child begins talking late, adds new words slowly and has difficulty rhyming, he or she may be at increased risk of dyslexia.

Once your child is in school, dyslexia symptoms may become more apparent, including:

* The inability to recognize words and letters on a printed page.
* A reading ability level well below the expected level for the age of your child.

Children with dyslexia commonly have problems processing and understanding what they hear. They may have difficulty comprehending rapid instructions, following more than one command at a time or remembering the sequence of things. Reversals of letters (b for d) and a reversal of words are typical among children who have dyslexia. Reversals are also common for children age 6 and younger who don't have dyslexia. But with dyslexia, the reversals persist.

Children with dyslexia may fail to see (and occasionally to hear) similarities and differences in letters and words, may not recognize the spacing that organizes letters into separate words, and may be unable to sound out the pronunciation of an unfamiliar word.

Diagnosis:
Dyslexia diagnosis involves an evaluation of medical, cognitive, sensory-processing, educational and psychological factors. Your doctor may ask about your child's developmental and medical history as well as your family medical history.

Your doctor may also suggest that your child undergo:

* Vision, hearing and neurological evaluations. These evaluations can help determine whether another disorder may be causing or contributing to your child's poor reading ability.
* A psychological assessment. This can help determine whether social problems, anxiety or depression may be limiting your child's abilities.
* An evaluation of educational skills. Your child may take a set of educational tests and have the process and quality of his or her reading skills analyzed by an expert.

Treatment:
There's no known way to correct the underlying brain malfunction that causes dyslexia. Dyslexia treatment is by remedial education. Psychological testing will help your child's teachers develop a suitable remedial teaching program.

Multisensory approach
Teachers may use techniques involving hearing, vision and touch to improve reading skills. Helping a child use several senses to learn — for example, by listening to a taped lesson and tracing with a finger the shape of the letters used and the words spoken — can help him or her process the information. The most important teaching approach may be frequent instruction by a reading specialist who uses these multisensory methods of teaching.

You can help your child learn by reading to him or her often and helping your child pronounce letters and spell out words. If your child learns best by hearing new information first, listen to books on tape with him or her and then read the same story in written form together.

If your child has a severe reading disability, tutoring may involve several individual or small-group sessions each week, and progress may be slow. A child with severe dyslexia may never be able to read well and may need training for vocations that don't require strong reading skills. Children with milder forms of dyslexia often eventually learn to read well enough to succeed in school.

Dysentery

Dysentery (formerly known as flux or the bloody flux) is an infection of the digestive system that results in severe diarrhea containing mucus and blood in the feces and is typically the result of unsanitary water containing micro-organisms which cause significant inflammation of the intestinal lining. There are two major types of dysentery due to micro-organisms: amoebic dysentery, and bacillary dysentery mainly due to one of three bacteria (diaria). Dysentery can also be caused by certain medications; for example, some steroids can impact bowel movements.

Amoebic dysentery is caused by the amoeba Entamoeba histolytica. Amoebic dysentery is transmitted through contaminated food and water. From ingestion, the infecting organisms move into the intestines via the stomach. Amoebae spread by forming infective cysts which can be found in stools and spread if whoever touches them does not sanitize their hands. There are also free amoebae, or trophozoites, that do not form cysts.

Amoebic dysentery is well known as a "traveler's dysentery" because of its prevalence in developing nations, or "Montezuma's Revenge" although it is occasionally seen in industrialized countries. Liver infection, and subsequent amoebic abscesses can occur.

Bacillary dysentery is mostly commonly associated with three bacterial groups:
* Shigellosis is caused by one of several types of Shigella bacteria.
* Campylobacteriosis caused by any of the dozen species of Campylobacter that cause human disease.
* Salmonellosis caused by Salmonella enterica (serovar Typhimurium).

Symptoms:
Symptoms include frequent passage of feces/stool, loose motion and in some cases associated vomiting. Variations depending on parasites can be frequent urge with high or low volume of stool, with or without some associated mucus and even blood.

Once recovery starts, early refeeding is advocated avoiding foods containing lactose due to temporary lactose intolerance.

Treatment:
The first and main task in managing any episode of dysentry is to maintain fluid intake using oral rehydration therapy. If this can not be adequately maintained, either through nausea and vomiting or the profuseness of the diarrhea, then hospital admission may be required for intravenous fluid replacement. Ideally no antimicrobial therapy is started until microbiological microscopy and culture studies have established the specific infection involved. Where laboratory services are lacking, it may be required to initiate a combination of drugs including an amoebicidal drug to kill the parasite and an antibiotic to treat any associated bacterial infection.

Amoebic dysentery can be treated with metronidazole. Mild cases of bacillary dysentry are often self-limiting and do not require antibiotics, which are reserved for more severe or persisting cases; campylobacter, shigella and salmonella respond to ciprofloxacin or macrolide antibiotics.

Dwarfism

Dwarfism refers to a condition in individual plants or animals characterized by extreme small size. In older popular and medical usage, any type of marked human smallness could also be termed dwarfism. The term as related to human beings (the major subject of this article) is often used to refer specifically to those forms of extreme shortness characterized by disproportion of body parts, typically due to an inheritable disorder in bone or cartilage development.

Forms of extreme shortness in humans characterized by proportional body parts usually have a hormonal or nutritional cause. An example is growth hormone deficiency, once known as "pituitary dwarfism".

The Little People of America (LPA) defines dwarfism as a medical or genetic condition that usually results in an adult height of 4'10" (147 cm) or shorter.

Types:
* rhizomelic = root, e.g. bones of upper arm or thigh.
* mesomelic = middle, e.g. bones of forearm or lower leg.
* acromelic = end, e.g. bones of hands and feet.

When the cause of dwarfism is understood, it may be classified according to one of hundreds of names, which are usually permutations of the following roots:

* chondro = of cartilage.
* osteo = of bone.
* spondylo = of the vertebrae.
* plasia = form.
* trophy = growth.

Examples include achondroplasia, osseous dysplasia, chondrodystrophy, and osteochondrodystrophy.

The most recognizable and most common form of dwarfism is achondroplasia, which produces rhizomelic short limbs, increased spinal curvature, and distortion of skull growth. It accounts for 70% of dwarfism cases. Other relatively common types include spondyloepiphyseal dysplasia congenita (SED), diastrophic dysplasia, pseudoachondroplasia, hypochondroplasia, and osteogenesis imperfecta (OI). Severe shortness with skeletal distortion also occurs in several of the mucopolysaccharidoses and other storage diseases.

The average adult height of male and females with dwarfism is 132 cm and 123 cm respectively. The average weight of an adult may range from 100 to 150 pounds (45-68 kg).

Causes:
Most dwarfism-related conditions are genetic disorders, but the causes of some disorders are unknown. Most occurrences of dwarfism result from a random genetic mutation in either the father's sperm or the mother's egg — rather than being in one of the parent's complete genetic makeup.

Achondroplasia
For example, about 80 percent of people with achondroplasia are born to parents of average height. A person with achondroplasia and with two average-size parents received one mutated copy of the gene associated with the disorder and one normal copy of the gene. A person with the disorder may pass along either a mutated or normal copy to his or her own children.

Turner syndrome
Turner syndrome occurs because of a random deletion or severe alteration of an X chromosome, either in the sperm or egg. (The X chromosome is one of two chromosomes that determine the sex of a person. A female inherits an X chromosome from each parent, and a male inherits a Y chromosome from his father and an X chromosome from his mother.) A girl with Turner syndrome has only one fully functioning copy of the female sex chromosome rather than two.

Growth hormone deficiency
The cause of growth hormone deficiency can sometimes be traced to a genetic mutation or injury, but for most people with the disorder, no cause can be identified.

Other causes of dwarfism include deficiencies in other hormones and poor nutrition.

Symptoms:
More than 200 different medical conditions cause dwarfism. Therefore, dwarfism symptoms — other than short stature — vary considerably across the spectrum of disorders. In general, the disorders are divided into two broad categories.

Disproportionate dwarfism- If body size is disproportionate, some parts of the body are small and others are of average size or above-average size. Disorders causing disproportionate dwarfism inhibit the development of bones.
Proportionate dwarfism- A body is proportionately small if all parts of the body are small to the same degree and appear to be proportioned like a body of average stature.

Disproportionate dwarfism
Most people with dwarfism have disorders that cause disproportionately short stature. Usually, this means that a person has an average-size trunk and very short limbs, but some people may have a very short trunk and shortened (but disproportionately large) limbs. The other common characteristic of these disorders is the head being disproportionately larger than the body.

Almost all people with disproportionate dwarfism have normal intellectual capacities. Rare exceptions are usually the result of a secondary factor, such as excess fluid in the brain (hydrocephalus).

About 70 percent of all people with dwarfism have a disorder called achondroplasia, which causes disproportionately short stature. This disorder usually results in:

* An adult height of approximately 4 feet.
* An average-size trunk.
* Short arms and legs, with particularly short upper arms and legs.
* Short fingers, often with a wide separation between the middle and ring fingers.
* Limited mobility at the elbows.
* A disproportionately large head, with a prominent forehead and flattened bridge of the nose.
* Progressive development of bowed legs (genu varum).
* Progressive development of swayed lower back (lordosis).

A disorder called spondyloepiphyseal dysplasia congenita (SEDC), while rare, is the most common cause of disproportionate dwarfism with a short trunk. Signs and symptoms may include:

* Adult height ranging from 3 feet to just over 4 feet.
* A very short trunk, which may or may not be apparent in infancy.
* A short neck.
* Shortened arms and legs.
* Average-size hands and feet.
* Slightly flattened cheek bones.
* Hip deformities that result in thigh bones turning inward (coxa vara).
* Feet twisted or out of shape (clubfoot).
* Progressive hunching curvature of the upper spine (kyphoscoliosis).
* Progressive development of lordosis.
* Vision and hearing problems.

Proportionate dwarfism
Proportionate dwarfism results from medical conditions present at birth or during early childhood that limit overall growth and development. Therefore, the head, trunk and limbs are all small but of average proportions relative to each other.

Most of these disorders are uncommon, and signs and symptoms of the disorders vary greatly. Because these disorders affect overall growth, many of them result in poor development of one or more body systems. A few disorders causing proportionate dwarfism result in mental retardation.

Growth hormone deficiency is a relatively common cause of proportionate dwarfism. It occurs when the pituitary gland fails to produce an adequate supply of growth hormone, which is essential for regular childhood growth. Signs and symptoms include:

* Height below the fifth percentile on standard pediatric growth charts.
* Slowed growth before age 5.
* Periods of little or no change in height.
* Adult height usually less than 5 feet.
* Delayed or no sexual development during adolescence.

Turner syndrome, also relatively common, is a disorder that results in short stature and impaired sexual maturation in females. Signs and symptoms of the disorder may include:

* An average adult height of 4 feet 8 inches.
* Undeveloped ovaries.
* Excess skin at the neck at birth that usually becomes less noticeable over time.
* Puffy hands and feet at birth and during infancy.
* Heart and blood vessel defects.
* Kidney problems.
* No development of breasts or onset of menstruation during adolescence.
* Infertility.
* Possible difficulty with intellectual tasks dependent on visualizing objects in relation to one another.

Diagnosis:
Your pediatrician will examine a number of factors in order to assess your child's growth and determine if he or she has a dwarfism-related disorder. For some assessments, your pediatrician may refer you to other doctors, such as pediatricians specializing in bone abnormalities (orthopedics) or hormone dysfunction (endocrinology).

Measurements- A regular part of a well-baby medical examination is the measurement of height, weight and head circumference. At each visit, your pediatrician will plot these measurements on a chart, which indicates the percentile ranking for each measurement and expected growth curve in the future. This information is important for identifying abnormal growth, such as delayed growth or a disproportionately large head. If any trends in these charts are a concern, your pediatrician may make more frequent measurements over a period of several months.
Appearance- Many distinct facial and skeletal features are associated with each of several dwarfism disorders. Therefore, your child's appearance may also assist your pediatrician in making a diagnosis.
Imaging technology- Your doctor may order radiographic studies, such as X-rays, because certain abnormalities of the skull and skeleton can indicate which disorder your child may have. Various imaging devices may also reveal delayed maturation of bones, as is the case in growth hormone deficiency. A magnetic resonance imaging (MRI) scan may reveal abnormalities of the pituitary gland or hypothalamus, both of which play a role in hormone function.
Genetic tests- Genetic tests are available for many of the known causal genes of dwarfism-related disorders, but these tests often aren't necessary to make an accurate diagnosis. Your doctor is likely to suggest a test only to distinguish among possible diagnoses when other evidence is unclear or as a part of further family planning. If your pediatrician believes your daughter may have Turner syndrome, then he or she will order special laboratory tests that assess the state of X chromosomes extracted from blood cells.
Family history- Your pediatrician may take a history of stature in siblings, parents, grandparents or other relatives to help determine whether the average range of height in your family includes short stature.
Hormone tests- Your doctor may order tests that assess levels of growth hormone or other hormones that are critical for childhood growth and development.

Treatment:
Most dwarfism treatments don't increase stature but may alleviate problems caused by complications.

Common surgical treatments
Surgical procedures that may correct problems with bones in people with disproportionate dwarfism include:

* Inserting metal staples into the ends of long bones where growth occurs (growth plates) in order to correct the direction in which bones are growing.
* Dividing a limb bone, straightening it and inserting metal plates to hold it in place.
* Inserting rods or staples to help correct the shape of the spine.
* Increasing the size of the opening in bones of the spine (vertebrae) to alleviate pressure on the spinal cord.

Limb lengthening
Some people with dwarfism elect to undergo limb-lengthening surgery. With this procedure, the surgeon divides a long bone into two or more sections, separates the sections slightly and braces the bone and limb with metal "scaffolding." Pins and screws on this frame are adjusted to keep tension between the sections, enabling the bone to grow back together gradually into a complete but longer bone.

This procedure is controversial for many people with dwarfism because, as with all surgeries, there are risks, and because the "correction" in stature may imply there's something wrong with being short.

Hormone therapy
Growth hormone deficiency is treated with injections of a synthetic version of the hormone. Most children receive daily injections for several years until they reach a maximum adult height — often within the average adult range for one's family. Treatment may continue throughout adolescence and early adulthood to ensure adult maturation, such as appropriate gain in muscle or fat. The treatment may be supplemented with other related hormones if they are also deficient.

Treatment for Turner syndrome usually begins in the preteen years with small doses of a male hormone (androgen) and a female hormone (estrogen) to increase height. A second course of treatment with estrogen and another female hormone (progesterone) will occur in the early teen years to promote breast development and sexual maturation. Adult women usually use a hormone therapy until the average age for the onset of menopause.

Monday, April 14, 2008

Down Syndrome

Down syndrome is a genetic disorder that causes mental retardation and other problems. The condition varies in severity, so developmental problems may range from mild to serious.

Down syndrome is the most common genetic cause of severe learning disabilities in children, occurring in one in every 700 infants. Every year, as many as 6,000 babies are born with Down syndrome in the United States. The condition is named after John Langdon Down, the doctor who first identified the syndrome.

There's no medical cure for this condition. But increased understanding of Down syndrome and early interventions make a big difference in the lives of both children and adults with Down syndrome.

Causes:
Human cells normally contain 23 pairs of chromosomes. One chromosome in each pair comes from your father, the other from your mother.

The cause of Down syndrome is one of three types of abnormal cell division involving the 21st chromosome. All three abnormalities result in extra genetic material from chromosome 21, which is responsible for the characteristic features and developmental problems of Down syndrome. The three genetic variations that can cause Down syndrome include:

Trisomy 21- More than 90 percent of cases of Down syndrome are caused by trisomy 21. A child with trisomy 21 has three copies of chromosome 21 — instead of the usual two copies — in all of his or her cells. This form of Down syndrome is caused by abnormal cell division during the development of the sperm cell or the egg cell.
Mosaic Down syndrome- In this rare form of Down syndrome, children have some cells with an extra copy of chromosome 21, but not all. This mosaic of normal and abnormal cells is caused by abnormal cell division after fertilization.
Translocation Down syndrome- Down syndrome can also occur when part of chromosome 21 becomes attached (translocated) onto another chromosome, before or at conception. Children with translocation Down syndrome have the usual two copies of chromosome 21, but they also have additional material from chromosome 21 stuck to the translocated chromosome. This form of Down syndrome is uncommon.

Symptoms:
Children with Down syndrome have a distinct facial appearance. Though not all children with Down syndrome have the same features, some of the more common features are:

* Flattened facial features.
* Protruding tongue.
* Small head.
* Upward slanting eyes, unusual for the child's ethnic group.
* Unusually shaped ears.

Children with Down syndrome may also have:

* Poor muscle tone.
* Broad, short hands with a single crease in the palm.
* Relatively short fingers.
* Excessive flexibility.

Infants born with Down syndrome may be of average size, but typically they grow slowly and remain smaller than other children of similar age. Children with Down syndrome also have some degree of mental retardation, ranging from mild to moderate.

Diagnosis:
Various screening tests can help identify whether you have a high risk of carrying a baby with Down syndrome. Blood tests, such as the quad screen, have typically been offered around the 16th week of pregnancy to screen for Down syndrome, spina bifida and various other chromosomal disorders. These tests are still available. But the most effective screening is done in two steps between the 11th and 14th week of pregnancy:

Ultrasound- The doctor uses ultrasound to measure a specific region on the back of a baby's neck. This is known as a nuchal translucency screening test. When abnormalities are present, more fluid than usual tends to collect in this tissue.

Blood tests- Results of the ultrasound are paired with blood tests that measure levels of pregnancy-associated plasma protein-A (PAPP-A) and a hormone known as human chorionic gonadotropin (HCG). Abnormal levels of PAPP-A and HCG may indicate a problem with the baby.

Diagnostic tests during pregnancy
If your screening tests are positive or worrisome or you're at high risk of having a baby with Down syndrome, you might consider further testing to confirm the diagnosis. Diagnostic tests that can identify Down syndrome include:

Amniocentesis- A sample of the amniotic fluid surrounding the fetus is withdrawn through a needle inserted into the mother's uterus. This sample is then used to analyze the chromosomes of the fetus. Doctors usually perform this test after 15 weeks of gestation. The test carries a risk of miscarriage of one in 200.
Chorionic villus sampling (CVS)- Cells taken from the mother's placenta can be used to analyze the fetal chromosomes. Typically performed between the ninth and 14th week of pregnancy, this test carries a risk of miscarriage of one in 100.
Percutaneous umbilical blood sampling (PUBS)- Blood is taken from a vein in the umbilical cord and examined for chromosomal defects. Doctors generally perform this test after 18 weeks of gestation. This test carries a greater risk of miscarriage than does amniocentesis or chorionic villus sampling. Generally, this test is only done when speed of diagnosis is essential.

Each of these three tests is 98 percent to 99 percent accurate in diagnosing Down syndrome before birth.

Treatment:
There's no medical treatment for Down syndrome that will provide a cure. But children with Down syndrome do benefit from medical help and early interventions, starting in infancy.

If your child has Down syndrome, you'll likely become acquainted with a team of doctors that may include a pediatric cardiologist, a gastroenterologist, a developmental pediatrician and other specialists. These doctors can detect and treat complications of Down syndrome, such as heart defects, gastrointestinal problems and hearing problems.

Your child's care team may also include a physical therapist, speech pathologist, occupational therapist and others. These specialists can help your child develop skills as fully as possible. For example, babies with Down syndrome don't have good muscle tone, so a physical therapist can help your baby learn to roll over, sit up and walk. Meanwhile, a speech pathologist or occupational therapist may help with feeding, hand coordination and language skills.

Ask your doctor about early intervention programs available in your area. These specialized programs — in which children with Down syndrome are stimulated at an early age with appropriate sensory, motor and cognitive activities — are available in most states. Programs vary from location to location, but they usually involve therapists and special educators whose goal is to help your baby develop motor skills, language, social skills and self-help skills.

In general, children with Down syndrome usually meet developmental milestones, but it may take them a little longer than it does for children without Down syndrome. For example, children with Down syndrome may take twice as long to sit, crawl, walk or say a first word. However, early intervention programs, started as soon as possible, may give kids with Down syndrome the best chance of success.

Dizziness

Many different terms are often used to describe what is collectively known as dizziness. Common descriptions include words such as lightheaded, floating, woozy, giddy, confused, helpless or fuzzy. Vertigo, Disequilibrium and Pre-syncope are the terms in use by most doctors. Dizziness is sometimes a symptom of a balance disorder.
Dizziness is one of the most common reasons older adults visit their doctors. Aging increases the risk of developing any of several conditions that may cause dizziness. Although it may be disabling and incapacitating, dizziness rarely signals a serious, life-threatening condition. Treatment of dizziness depends on the cause and your symptoms.

Causes:
Under normal circumstances, your sense of balance is controlled by a number of signals that your brain receives from several locations:

Eyes- No matter what your position, visual signals help you determine where your body is in space and how it's moving.
Sensory nerves- These are in your skin, muscles and joints. Sensory nerves send messages to your brain about body movements and positions.
Inner ear- The organ of balance in your inner ear is the vestibular labyrinth. It includes loop-shaped structures (semicircular canals) that contain fluid and fine, hair-like sensors that monitor the rotation of your head. Near the semicircular canals are the utricle and saccule, which contain tiny particles called otoconia. These particles are attached to sensors that help detect gravity and back-and-forth motion.
Good balance depends on at least two of these three sensory systems working well. For instance, closing your eyes while washing your hair in the shower doesn't mean you'll lose your balance. Signals from your inner ear and sensory nerves help keep you upright.
However, if your central nervous system can't process signals from all of these locations, if the messages are contradictory, or if the sensory systems aren't functioning properly, you may experience loss of balance.

Symptoms:
Characteristics of dizziness may include:

* A sense that you or your surroundings are spinning or moving (vertigo)
* A loss of balance
* Nausea
* Unsteadiness
* Wooziness
* Lightheadedness
* Faintness
* Weakness
* Fatigue
* Difficulty concentrating
* Blurred vision after quick head movements

Diagnosis:
Your doctor will likely ask you a number of questions about your dizziness. In trying to determine the cause, your doctor may ask if your dizziness:

* Causes the room to spin or produces a sensation of motion.
* Is associated with a feeling of faintness or lightheadedness.
* Causes you to lose your balance.
* Is accompanied by ringing or fullness in your ears (tinnitus) or trouble hearing.

Your doctor will want to know what medications you're taking. He or she will also ask you when you experience dizziness, how long it lasts and how often it occurs. Your doctor can narrow down possible causes of dizziness after determining the type of dizziness you're experiencing, reviewing your medical history and current medications, conducting a physical examination, and ordering further testing based on your signs and symptoms.

Doctors can usually determine the cause of dizziness. Doing so may require a consultation with an ear, nose and throat (ENT) specialist or a neurologist. But even if no cause is found or if your dizziness persists, prescription drugs and other treatments may make your symptoms more manageable.

Treatment:
Doctors base treatment of dizziness on the cause and your symptoms.

* BPPV- Treatment of BPPV is with canalith repositioning, a simple procedure that involves your doctor or physical therapist maneuvering the position of your head. The goal is to move the loose particles in your ear to a place within your ear where they won't cause dizziness and will be reabsorbed into your body's fluids. The success rate of this procedure may be as high as 90 percent. You may need to have the procedure repeated.
* Inner ear conditions- Balance retraining exercises (vestibular rehabilitation) are used to treat acute vestibular neuronitis or labyrinthitis. These are exercises you learn from a physical therapist or occupational therapist and then do at home. This rehabilitation involves movements of your head and body to correct loss of balance.
* Meniere's disease- Treatment of Meniere's disease involves reducing your body's retention of fluids through diuretics or dietary changes, such as a low-salt diet. Occasionally, surgery is an option.
* Vestibular migraine- To combat vertigo associated with a vestibular migraine, your doctor will likely try to help you determine and avoid the triggers for your attacks. He or she may suggest that you avoid certain foods, reduce stress in your life, develop a regular sleep pattern and practice aerobic exercise. You may also be taught specific exercises to help make your balance system less sensitive to motion (vestibular rehabilitation). Certain medicines may help prevent attacks of migrainous vertigo or make them less uncomfortable by providing relief for nausea and vomiting.
* Anxiety disorders- Your doctor may suggest counseling to help you deal with your anxiety and manage your dizziness.
* Other contributing health conditions- Your doctor will recommend treatment of an existing disease or disorder that may be causing or contributing to your dizziness, such as ear infection, stroke, heart problems or multiple sclerosis.

Diverticulitis

Diverticulitis develops from a condition called diverticulosis. If you're older than age 40, it's common for you to have diverticulosis — small, bulging pouches (diverticula) in your digestive tract. In the United States, more than 50 percent of people older than 60 have diverticula. Although diverticula can form anywhere, including in your esophagus, stomach and small intestine, most occur in your large intestine. Because these pouches seldom cause any problems, you may never know you have them.

Sometimes, however, one or more pouches become inflamed or infected, causing severe abdominal pain, fever, nausea and a marked change in your bowel habits. When diverticula become infected, the condition is called diverticulitis. Mild cases of diverticulitis can be treated with rest, changes in your diet and antibiotics. But serious cases of diverticulitis may eventually require surgery to remove the diseased portion of your colon.

Fortunately, most people with diverticulosis never develop diverticulitis. Best of all, you can help prevent both types of diverticular disease by including more high-fiber foods in your diet.

Causes:
Diverticula usually develop when naturally weak places in your colon give way under pressure. This causes marble-sized pouches to protrude through the colon wall. In Western populations, pouches are most common in your sigmoid and descending colon — the lower portions of your large intestine just above your rectum. In Asian populations, pouches in the right colon (cecum and ascending colon) are more common.

Increased pressure in the colon can lead to breakdown of the wall of the diverticula leading to infection. A small tear or perforation can also develop in an infected pouch, which in turn can cause an infection within your abdomen (peritonitis). If the infection is limited to an area around the wall of your colon where the diverticula are inflamed, you may develop a localized collection of pus known as an abscess.

Symptoms:
Diverticulitis symptoms can feel like appendicitis, except you'll generally have pain in the lower left side of your abdomen, instead of the lower right side. The pain is usually severe and comes on suddenly, but sometimes you may have mild pain that becomes worse over several days and fluctuates in intensity. You may also have abdominal tenderness, fever, nausea, and constipation or diarrhea.

Less common signs and symptoms of diverticulitis may include:

* Vomiting.
* Bloating.
* Bleeding from your rectum.
* Frequent urination.
* Difficulty or pain while urinating.
* Tenderness in your abdomen when wearing a belt or bending over.

Diagnosis:
he differential diagnosis includes colon cancer, inflammatory bowel disease, ischemic colitis, and irritable bowel syndrome, as well as a number of urological and gynecological processes. Some patients report bleeding from the rectum.

Patients with the above symptoms are commonly studied with a computed tomography, or CT scan. The CT scan is very sensitive (98%) in diagnosing diverticulitis. In order to extract the most information possible about the patient's condition, thin section (5mm) transverse images are obtained through the entire abdomen and pelvis after the patient has been administered oral and intravascular contrast. Images reveal localized thickening and hyperemia (increased blood flow) involving a segment of the colon wall, with inflammatory changes extending into the fatty tissues surrounding the colon. The diagnosis of acute diverticulitis is made confidently when the involved segment contains diverticulae. CT may also identify patients with more complicated diverticulitis, such as those with an associated abscess. It may even allow for radiologically guided drainage of an associated abscess, sparing a patient from immediate surgical intervention.

Other studies, such as barium enema and colonoscopy are contraindicated in the acute phase of diverticulitis due to the risk of perforation.

Treatment:
In general, treatment depends on the severity of your signs and symptoms and whether this is your first attack of diverticulitis. If your symptoms are mild, a liquid or low-fiber diet and antibiotics may be all you need. But if you're at risk of complications or have recurrent attacks of diverticulitis, you may need more advanced care.

Home care
If your condition calls for home treatment, expect to remain quiet for a few days. You'll also temporarily need to avoid all whole grains, fruits and vegetables so that your colon can rest and heal. Once your symptoms improve — often in two to four days — you can gradually start increasing the amount of high-fiber foods in your diet.

In addition, your doctor will likely prescribe antibiotics to help kill the bacteria causing your infection. Even if you start feeling better, be sure to finish your entire course of medication. Stopping too soon could cause your infection to come back or could contribute to creating strains of bacteria that are resistant to antibiotics.

If you have moderate or severe pain, your doctor may recommend an over-the-counter pain reliever, such as acetaminophen (Tylenol, others). Your doctor may also prescribe a more potent pain medication, although these medications tend to be constipating and may aggravate the problem.

Hospitalization
If you have a more severe attack that includes or puts you at risk of bowel obstruction or peritonitis, you may require hospitalization and intravenous antibiotics.

Surgery
If you have a fistula or recurring diverticulitis, your doctor may recommend surgery to remove the diseased part of your colon. There are two types of surgery:

Primary bowel resection- This is the standard surgery for people with diverticulitis. Your surgeon removes the diseased part of your intestine and then reconnects the healthy segments of your colon (anastomosis). This allows you to have normal bowel movements. Depending on the amount of inflammation, you may have open (traditional) surgery or laparoscopic surgery. In open surgery, your surgeon makes one long incision in your abdomen, while laparoscopic surgery is performed through three or four tiny incisions. You'll heal faster and recover more quickly with laparoscopic surgery. Laparoscopic surgery may not be an option if you are very overweight or have extensive inflammation.
Bowel resection with colostomy- This surgery may be necessary if you have so much inflammation in your colon that it's not possible to rejoin your colon and rectum. During a colostomy, your surgeon makes an opening (stoma) in your abdominal wall. The unaffected part of your colon is then connected to the stoma, and waste passes through the opening into a bag. A colostomy may be temporary or permanent. Several months later — once the inflammation has healed — your surgeon may be able to perform a second operation to reconnect your colon and rectum.

Sunday, April 13, 2008

Diphtheria

Diphtheria is a serious bacterial infection, usually affecting the mucous membranes of your nose and throat. Diphtheria typically causes a bad sore throat, fever, swollen glands and weakness. But the hallmark sign is a thick, gray covering in the back of your throat that can make breathing difficult. Diphtheria can also infect your skin.

Years ago, diphtheria was a leading cause of death among children. Today, diphtheria is very rare in the United States and other developed countries thanks to widespread vaccination against the disease.

Medications are available to treat diphtheria. However, in advanced stages, diphtheria can cause damage to your heart, kidneys and nervous system. Even with treatment, diphtheria can be deadly — nearly one out of every 10 people who get diphtheria die of it.

Causes:
The bacterium Corynebacterium diphtheriae causes diphtheria. Usually the bacteria multiply on or near the surface of the mucous membranes of the throat, where they cause inflammation. The inflammation may spread to the voice box (larynx) and may make your throat swell, narrowing your airway. Disease-causing strains of C. diphtheriae release a poison (toxin), which can also damage the heart, brain and nerves.

The bacteria may cause a thick, gray covering to form in your nose, throat or airway — a marker of diphtheria that separates it from other respiratory illnesses. This covering is usually fuzzy gray or black and causes breathing difficulties and painful swallowing.

You contract diphtheria by inhaling airborne droplets exhaled by a person with the disease or by a carrier who has no symptoms. Diphtheria passes from an infected person to others through:

* Sneezing and coughing, especially in crowded living conditions.
* Contaminated personal items, such as tissues or drinking glasses that have been used by an infected person.
* Contaminated household items, such as towels or toys.

You can also come in contact with diphtheria-causing bacteria by touching an infected wound.

People who have been infected by the diphtheria bacteria and who haven't been treated can infect nonimmunized people for up to six weeks — even if they don't show any symptoms.

Symptoms:
Signs and symptoms of diphtheria may include:
A sore throat and hoarseness, Painful swallowing, Swollen glands (enlarged lymph nodes) in your neck, A thick, gray membrane covering your throat and tonsils, Difficulty breathing or rapid breathing, Nasal discharge, Fever and chills, Malaise, etc.

Signs and symptoms usually begin two to five days after a person becomes infected, but they may take as many as 10 days to appear.

Some people become infected with diphtheria-causing bacteria, but they develop only a mild case of the illness and show no signs or symptoms of the disease. They're said to be carriers of the disease, because they may spread the disease without showing signs or symptoms of illness.

Skin (cutaneous) diphtheria
A second type of diphtheria can affect the skin. A wound infected with bacteria is typically red, painful and swollen. A wound infected with diphtheria-causing bacteria also may have patches of a sticky, gray material.
Although it's more common in tropical climates, cutaneous diphtheria also occurs in the United States, particularly among people with poor hygiene who live in crowded conditions. In rare instances, diphtheria affects the eye.

Diagnosis:
Doctors may suspect diphtheria in a sick child who has a sore throat with a gray membrane covering the tonsils and throat. Doctors confirm the diagnosis by taking a sample of the membrane from the child's throat with a swab and having the sample grown (cultured) in a laboratory.

Doctors can also take a sample of tissue from an infected wound and have it tested in a laboratory, to check for the type of diphtheria that affects the skin (cutaneous diphtheria).

If a doctor suspects diphtheria, treatment begins immediately, even before the results of bacterial tests are available.

Treatment:
The disease may remain manageable, but in more severe cases lymph nodes in the neck may swell, and breathing and swallowing will be more difficult. People in this stage should seek immediate medical attention, as obstruction in the throat may require intubation or a tracheotomy. In addition, an increase in heart rate may cause cardiac arrest. Diphtheria can also cause paralysis in the eye, neck, throat, or respiratory muscles. Patients with severe cases will be put in a hospital intensive care unit (ICU) and be given a diphtheria anti-toxin. Since antitoxin does not neutralize toxin that is already bound to tissues, delaying its administration is associated with an increase in mortality risk. Therefore, the decision to administer diphtheria antitoxin is based on clinical diagnosis, and should not await laboratory confirmation.

Antibiotics have not been demonstrated to affect healing of local infection in diphtheria patients treated with antitoxin. Antibiotics are used in patients or carriers to eradicate C. diphtheriae and prevent its transmission to others. The CDC recommends either:

Erythromycin (orally or by injection) for 14 days (40 mg/kg per day with a maximum of 2 g/d), or
Procaine penicillin G given intramuscularly for 14 days (300,000 U/d for patients weighing <10>10 kg).
Patients with allergies to penicillin G or erythromycin can use rifampin or clindamycin.

Diarrhea

Acute diarrhea is an unpleasant digestive disorder that nearly everyone experiences at one time or another. In fact, it's estimated that most Americans can expect to have diarrhea about four times every year.

The loose-stool consistency that characterizes diarrhea usually lasts a few days at most. Diarrhea often means more-frequent trips to the toilet and a greater volume of stool. Some common causes of loose, watery stools and abdominal cramps are infections from viruses, bacteria or parasites. Other causes include medications — particularly antibiotics — and artificial sweeteners.

Chronic diarrhea lasts much longer than does acute diarrhea, generally longer than four weeks. It can be a sign of a serious disorder, such as inflammatory bowel disease, or it may be due to a less serious condition, such as irritable bowel syndrome. Chronic or recurrent diarrhea may signal poor absorption of nutrients (malabsorption).

Diarrhea may cause a loss of significant amounts of water and salts. Most cases of diarrhea clear on their own without treatment. But if diarrhea persists, you become dehydrated or you pass blood in your stool, see your doctor.

Causes:
The most common causes of diarrhea include:
* Viruses- Common viruses that cause diarrhea are the Norwalk virus, cytomegalovirus, viral hepatitis and the herpes simplex virus. Rotavirus is the most common cause of acute childhood diarrhea. Viral diarrhea spreads easily.
* Bacteria and parasites- Contaminated food or water can transmit bacteria and parasites to your body. Parasites such as Giardia lamblia and cryptosporidium can cause diarrhea. Common bacterial causes of diarrhea include campylobacter, salmonella, shigella and Escherichia coli. This type of diarrhea can be common for people traveling to developing countries.

Other causes
* Lactose- A sugar found in milk and milk products, lactose is a common cause of diarrhea in some people.
* Medications- Diarrhea can also be a side effect of many medications, particularly antibiotics. Antibiotics destroy both good and bad bacteria, which can disturb the natural balance of bacteria in your intestines. This disturbance sometimes leads to an infection with bacteria called Clostridium difficile, which can also cause diarrhea.
* Artificial sweeteners- Sorbitol and mannitol, artificial sweeteners found in chewing gum and other sugar-free products, can cause diarrhea in some otherwise healthy people.
* Surgery- Some people may experience diarrhea after undergoing abdominal surgery or gallbladder removal surgery.
* Other digestive disorders- Chronic diarrhea has a number of other causes, such as Crohn's disease, ulcerative colitis, celiac disease and irritable bowel syndrome.

Symptoms:
Signs and symptoms associated with diarrhea may include:
Frequent, loose, watery stools, Abdominal cramps, Abdominal pain, Fever, Blood in the stool, Bloating, etc.
In addition, other signs and symptoms such as nausea and vomiting may precede diarrhea that's caused by, for example, an infection. Bacterial or parasitic infections sometimes cause bloody stools, and fever may accompany these infections as well.

Diagnosis:
If you have diarrhea that requires medical attention, your doctor will ask about your symptoms and will want to determine if you're dehydrated. Tell your doctor about any medications you're taking, including over-the-counter medications — they may have caused the diarrhea.

Your doctor may examine your abdomen to determine the location of your pain, may listen to your abdomen with a stethoscope and may perform a rectal exam. Your doctor may suggest blood or stool tests to check for signs of infection or other abnormalities.

Treatment:
Most cases of diarrhea clear on their own within a few days without treatment. If you seek medical attention, your doctor likely will advise you to take steps to replace the fluids and salts lost during diarrhea.

Your body needs adequate levels of salts and electrolytes — minerals such as sodium and potassium — in order to maintain the electric currents that keep your heart beating. Disruption of your body's fluid and mineral levels creates an electrolyte imbalance. Unless restored by replacing fluids and drinking an electrolyte mixture, this imbalance can be serious.

If your doctor determines that an antibiotic medication caused your diarrhea, you'll need to stop taking that medication and modify your treatment plan.

If a parasitic infection caused your diarrhea, prescription antibiotics may ease your symptoms. Antibiotics sometimes, but not always, help ease signs and symptoms of bacterial diarrhea. However, antibiotics won't help viral diarrhea.

If you have chronic diarrhea, treating the underlying disease may help ease your diarrhea.

Saturday, April 12, 2008

Diabetes mellitus

Diabetes mellitus , often referred to simply as diabetes, is a syndrome characterized by disordered metabolism and abnormally high blood sugar (hyperglycaemia) resulting from low levels of the hormone insulin with or without abnormal resistance to insulin's effects. The characteristic symptoms are excessive urine production (polyuria), excessive thirst and increased fluid intake (polydipsia), blurred vision, unexplained weight loss and lethargy. These symptoms are likely to be absent if the blood sugar is only mildly elevated.

The World Health Organization recognizes three main forms of diabetes mellitus: type 1, type 2, and gestational diabetes (occurring during pregnancy), which have different causes and population distributions. While, ultimately, all forms are due to the beta cells of the pancreas being unable to produce sufficient insulin to prevent hyperglycemia, the causes are different. Type 1 diabetes is usually due to autoimmune destruction of the pancreatic beta cells. Type 2 diabetes is characterized by insulin resistance in target tissues. This causes a need for abnormally high amounts of insulin and diabetes develops when the beta cells cannot meet this demand. Gestational diabetes is similar to type 2 diabetes in that it involves insulin resistance; the hormones of pregnancy can cause insulin resistance in women genetically predisposed to developing this condition.

Gestational diabetes typically resolves with delivery of the child, however types 1 and 2 diabetes are chronic conditions. All types have been treatable since insulin became medically available in 1921. Type 1 diabetes, in which insulin is not secreted by the pancreas, is directly treatable only with injected insulin, although dietary and other lifestyle adjustments are part of management. Type 2 may be managed with a combination of dietary treatment, tablets and injections and, frequently, insulin supplementation. While insulin was originally produced from natural sources such as porcine pancreas, most insulin used today is produced through genetic engineering, either as a direct copy of human insulin, or human insulin with modified molecules that provide different onset and duration of action. Insulin can also be delivered continuously by a specialized pump which subcutaneously provides insulin through a changeable catheter.

Diabetes can cause many complications. Acute complications (hypoglycemia, ketoacidosis or nonketotic hyperosmolar coma) may occur if the disease is not adequately controlled. Serious long-term complications include cardiovascular disease (doubled risk), chronic renal failure, retinal damage (which can lead to blindness), nerve damage (of several kinds), and microvascular damage, which may cause impotence and poor healing. Poor healing of wounds, particularly of the feet, can lead to gangrene, which may require amputation. Adequate treatment of diabetes, as well as increased emphasis on blood pressure control and lifestyle factors (such as not smoking and keeping a healthy body weight), may improve the risk profile of most aforementioned complications. In the developed world, diabetes is the most significant cause of adult blindness in the non-elderly, the leading cause of non-traumatic amputation in adults, and diabetic nephropathy is the main illness requiring renal dialysis in the United States.

In type 1 diabetes, your immune system — which normally fights harmful bacteria or viruses — attacks and destroys the insulin-producing cells in the pancreas. This leaves you with little or no insulin. Instead of being transported into your cells, sugar builds up in your bloodstream. The exact cause of type 1 diabetes is unknown. Genetics may play a role. Exposure to certain viruses may serve as a trigger as well.

When you have type 2 diabetes, your body is resistant to the effects of insulin — a hormone that regulates the absorption of sugar into your cells — or your body produces some, but not enough, insulin to maintain a normal glucose level. Left uncontrolled, the consequences of type 2 diabetes can be life-threatening. There's no cure for type 2 diabetes, but there's plenty you can do to manage — or prevent — the condition. Start by eating healthy foods, including physical activity in your daily routine and maintaining a healthy weight. If diet and exercise aren't enough, you may need diabetes medications or insulin therapy to manage your blood sugar. In type 2 diabetes, this process works improperly. Instead of moving into your cells, sugar builds up in your bloodstream. This occurs when your pancreas doesn't make enough insulin or your cells become resistant to the action of insulin. Exactly why this happens is uncertain, although excess fat — especially abdominal fat — and inactivity seem to be important factors.

Symptoms:
The classical triad of diabetes symptoms is polyuria, polydipsia and polyphagia, which are, respectively, frequent urination; increased thirst and consequent increased fluid intake; and increased appetite. Symptoms may develop quite rapidly (weeks or months) in type 1 diabetes, particularly in children. However, in type 2 diabetes the symptoms develop much more slowly and may be subtle or completely absent. Type 1 diabetes may also cause a rapid yet significant weight loss (despite normal or even increased eating) and irreducible fatigue. All of these symptoms except weight loss can also manifest in type 2 diabetes in patients whose diabetes is poorly controlled.

When the glucose concentration in the blood is raised beyond the renal threshold, reabsorption of glucose in the proximal renal tubuli is incomplete, and part of the glucose remains in the urine (glycosuria). This increases the osmotic pressure of the urine and inhibits the reabsorption of water by the kidney, resulting in increased urine production (polyuria) and increased fluid loss. Lost blood volume will be replaced osmotically from water held in body cells, causing dehydration and increased thirst.

Prolonged high blood glucose causes glucose absorption, which leads to changes in the shape of the lenses of the eyes, resulting in vision changes. Blurred vision is a common complaint leading to a diabetes diagnosis; type 1 should always be suspected in cases of rapid vision change whereas type 2 is generally more gradual, but should still be suspected.

Patients (usually with type 1 diabetes) may also present with diabetic ketoacidosis (DKA), an extreme state of metabolic dysregulation characterized by the smell of acetone on the patient's breath; a rapid, deep breathing known as Kussmaul breathing; polyuria; nausea; vomiting and abdominal pain; and any of many altered states of consciousness or arousal (such as hostility and mania or, equally, confusion and lethargy). In severe DKA, coma may follow, progressing to death. Diabetic ketoacidosis is a medical emergency and requires hospital admission.

A rarer but equally severe possibility is hyperosmolar nonketotic state, which is more common in type 2 diabetes and is mainly the result of dehydration due to loss of body water. Often, the patient has been drinking extreme amounts of sugar-containing drinks, leading to a vicious circle in regard to the water loss.

Diagnosis:
The diagnosis of type 1 diabetes, and many cases of type 2, is usually prompted by recent-onset symptoms of excessive urination (polyuria) and excessive thirst (polydipsia), often accompanied by weight loss. These symptoms typically worsen over days to weeks; about a quarter of people with new type 1 diabetes have developed some degree of diabetic ketoacidosis by the time the diabetes is recognized. The diagnosis of other types of diabetes is usually made in other ways. These include ordinary health screening; detection of hyperglycemia during other medical investigations; and secondary symptoms such as vision changes or unexplainable fatigue. Diabetes is often detected when a person suffers a problem that is frequently caused by diabetes, such as a heart attack, stroke, neuropathy, poor wound healing or a foot ulcer, certain eye problems, certain fungal infections, or delivering a baby with macrosomia or hypoglycemia.

Diabetes mellitus is characterized by recurrent or persistent hyperglycemia, and is diagnosed by demonstrating any one of the following:
* fasting plasma glucose level at or above 126 mg/dL (7.0 mmol/l).
* plasma glucose at or above 200 mg/dL (11.1 mmol/l) two hours after a 75 g oral glucose load as in a glucose tolerance test.
* random plasma glucose at or above 200 mg/dL (11.1 mmol/l).

A positive result, in the absence of clinical symptoms of diabetes, should be confirmed by another of the above-listed methods on a different day. Most physicians prefer to measure a fasting glucose level because of the ease of measurement and the considerable time commitment of formal glucose tolerance testing, which takes two hours to complete. According to the current definition, two fasting glucose measurements above 126 mg/dL (7.0 mmol/l) is considered diagnostic for diabetes mellitus.

Patients with fasting glucose levels between 100 and 125 mg/dL (6.1 and 7.0 mmol/l) are considered to have impaired fasting glycemia. Patients with plasma glucose at or above 140 mg/dL or 7.8 mmol/l two hours after a 75 g oral glucose load are considered to have impaired glucose tolerance. Of these two pre-diabetic states, the latter in particular is a major risk factor for progression to full-blown diabetes mellitus as well as cardiovascular disease.

While not used for diagnosis, an elevated level of glucose irreversibly bound to hemoglobin (termed glycosylated hemoglobin or HbA1c) of 6.0% or higher is considered abnormal by most labs; HbA1c is primarily used as a treatment-tracking test reflecting average blood glucose levels over the preceding 90 days (approximately). However, some physicians may order this test at the time of diagnosis to track changes over time. The current recommended goal for HbA1c in patients with diabetes is <7.0%, which is considered good glycemic control, although some guidelines are stricter (<6.5%). People with diabetes who have HbA1c levels within this range have a significantly lower incidence of complications from diabetes, including retinopathy and diabetic nephropathy.

Treatment:
There is no practical cure now for type 1 diabetes. The fact that type 1 diabetes is due to the failure of one of the cell types of a single organ with a relatively simple function (i.e. the failure of the islets of Langerhans) has led to the study of several possible schemes to cure this form diabetes mostly by replacing the pancreas or just the beta cells. Only those type 1 diabetics who have received either a pancreas or a kidney-pancreas transplant (when they have developed diabetic nephropathy) and become insulin-independent may now be considered "cured" from their diabetes. A simultaneous pancreas-kidney transplant is a promising solution, showing similar or improved survival rates over a kidney transplant alone. Still, they generally remain on long-term immunosuppressive drugs and there is a possibility that the immune system will mount a host versus graft response against the transplanted organ.

Type 2 diabetes can be cured by one type of gastric bypass surgery in 80-100% of severely obese patients. The effect is not due to weight loss because it usually occurs within days of surgery, which is before significant weight loss occurs. The pattern of secretion of gastrointestinal hormones is changed by the bypass and removal of the duodenum and proximal jejunum, which together form the upper (proximal) part of the small intestine. One hypothesis is that the proximal small intestine is dysfunctional in type 2 diabetes; its removal eliminates the source of an unknown hormone that contributes to insulin resistance. This surgery has been widely performed on morbidly obese patients and has the benefit of reducing the death rate from all causes by up to 40%. A small number of normal to moderately obese patients with type 2 diabetes have successfully undergone similar operations.

Diabetes insipidus

When you hear the term "diabetes insipidus," you may immediately assume the condition is related to what's commonly known as "sugar" diabetes, or type 1 and type 2 diabetes mellitus. While the disorders share a name and have some common signs, in actuality diabetes mellitus (type 1 and type 2) and diabetes insipidus are unrelated.

Diabetes insipidus (DI) is a disorder characterized by intense thirst and by the excretion of large amounts of urine (polyuria). In most cases, it's the result of your body not properly producing, storing or releasing a hormone that increases water absorption by your kidneys and decreases urine flow. This form of diabetes insipidus is often called central diabetes insipidus, or sometimes neurogenic diabetes insipidus.

Diabetes insipidus can also occur when your kidneys are unable to properly respond to the hormone — a condition referred to as nephrogenic insipidus. Still rarer forms can occur during pregnancy (gestational diabetes insipidus).

Treatment depends on which type of diabetes insipidus you have.

Causes:
Diabetes insipidus occurs when this system is disrupted and your body can't regulate how it handles fluids. The way in which your system is disrupted determines which form of diabetes insipidus you have.

Central DI- The cause of central diabetes insipidus is damage to the pituitary gland or hypothalamus due to surgery, a tumor, illness (such as meningitis), inflammation or a head injury. In some cases the cause is unknown. This damage disrupts the normal production, storage and release of ADH.
Nephrogenic DI- Nephrogenic diabetes insipidus occurs when there's a defect in the kidneys tubules — the structures in your kidneys that cause water to be excreted or reabsorbed. This defect makes your kidneys unable to properly respond to ADH. The defect may be due to an inherited (genetic) disorder or a chronic kidney disorder. Certain drugs, such as lithium and tetracycline, also can cause nephrogenic DI. In about one in four cases of nephrogenic DI, doctors never determine a cause.
Gestational DI- Gestational diabetes insipidus occurs only during pregnancy and when an enzyme made by the placenta — the system of blood vessels and other tissue that allows the exchange of nutrients and waste products between a mother and her baby — destroys ADH in the mother.

Symptoms:
The two most common signs of diabetes insipidus are:
* Extreme thirst
* Excretion of an excessive volume of diluted urine

Depending on the severity of the condition, urine output can range from 2.5 liters per day if you have mild diabetes insipidus to 15 liters per day if the condition is severe and if you're taking in a lot of fluids. In comparison, the average urine output for a healthy adult is in the range of 1.5 to 2.5 liters a day.

Other signs may include needing to get up at night to urinate (nocturia) and bed-wetting.

Infants and young children who have diabetes insipidus may have the following signs and symptoms:
Unexplained fussiness or inconsolable crying, Unusually wet diapers, Fever, vomiting or diarrhea, Dry skin with cool extremities, etc.

Diagnosis:
Some of the tests that doctors commonly use to determine the type of diabetes insipidus and in some cases, its cause, include:
Water deprivation test- This test helps determine the cause of diabetes insipidus. You'll be asked to stop drinking fluids two to three hours before the test so that your doctor can measure changes in your body weight, urine output and urine composition when fluids are withheld. In some cases your doctor may also measure blood levels of ADH during this test.
In children, the water deprivation test is performed under close medical supervision so that they don't lose more than 5 percent of their body weight during the test.
Urinalysis- Urinalysis is the physical and chemical examination of urine. If your urine is less concentrated (meaning the amount of water excreted is high and the salt and waste concentrations are low), it could be due to diabetes insipidus.
Magnetic resonance imaging (MRI) scan- An MRI of the head is a non-invasive procedure that uses powerful magnets and radio waves to construct detailed pictures of brain tissues. Your doctor may want to perform an MRI to look for abnormalities in or near the pituitary gland.

Treatment:
Treatment of diabetes insipidus depends on what form of the condition you have, so your doctor will want to determine which form of DI is present before beginning treatment. Following are the treatment options for the most common types of diabetes insipidus:
Central DI- Because the cause of this form of diabetes insipidus is a lack of antidiuretic hormone (ADH), treatment is usually with a synthetic hormone called desmopressin. You can take desmopressin as a nasal spray, oral tablets, or by injection. The synthetic hormone will eliminate the increase in urination. For most people with central DI, desmopressin is a safe and effective treatment. If the condition is caused by an abnormality in the pituitary gland or hypothalamus (such as a tumor), however, your doctor will first treat the abnormality. If you have central DI, be sure to replace any fluid that you do lose; however, while you're taking desmopressin, drink fluids or water only when you're thirsty. This is because the drug prevents excess water excretion, which means your kidneys are making less urine and are less responsive to changes in body fluids. In mild cases of central DI, increased water intake may be all that you need. Your doctor may suggest a certain amount of water intake (usually more than 2.5 liters a day) to ensure proper hydration.

Nephrogenic DI- This condition is the result of your kidneys not properly responding to ADH, so desmopressin is not a treatment option. Instead your doctor may prescribe a low-salt diet to help reduce the amount of urine your kidneys make. You'll also need to be sure to drink enough water to avoid dehydration. The drug hydrochlorothiazide, used alone or with other medications, may improve symptoms. Although hydrochlorothiazide is a diuretic (usually used to increase urine output), in some cases it can reduce urine output for people with nephrogenic DI.
If symptoms from nephrogenic diabetes insipidus are due to medications you're taking, stopping these medicines may help; however, don't stop taking any medication without talking with your doctor first.

Gestational DI- Treatment for most cases of gestational DI is with the synthetic hormone desmopressin. In rare cases, an abnormality in the thirst mechanism causes gestational DI. In these rare cases, doctors don't prescribe desmopressin.