Aarskog-Scott syndrome: A syndrome of wide spaced eyes (ocular hypertelorism), front-facing (anteverted) nostrils, a broad upper lip, a malformed ("saddle-bag") scrotum, and laxity of the ligaments resulting in bending back of the knees (genu recurvatum), flat feet, and overly extensible fingers. There are X-linked and autosomal forms of the disease. The gene for the X-linked form has been mapped to chromosome band Xp11.21 and identified as the FGD1 gene.

The disease is named for DJ Aarskog (1928-) and CI Scott, Jr. (1934-), Norwegian and American pediatricians, who described it in 1970 and 1971. It is also known as Aarskog syndrome, faciodigitogenital dysplasia, and faciogenital dysplasia.

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Legionnaire disease: A disease due to the bacteria Legionella pneumophila found in plumbing, shower heads and water-storage tanks. Outbreaks of Legionella pneumonia have been attributed to evaporative condensers and cooling towers. The bacteria thrives in the mist sprayed from air-conditioning ducts and so it can infest an entire building or airplane. Travelers are especially vulnerable in the closed space within a plane.

Home hot water pipes have also been found to be a common source of the disease. The bacteria flourish at temperatures between 90 and 105 degrees and so can grow in the slimy gunk lining residential hot water pipes. People contract the bacteria by inhaling drops of water while showering, washing or even drinking.

Legionnaire disease can cause a massive pneumonia associated with collapse of the respiratory function. It can be an overwhelming and sometimes fatal illness.

The disease was first identified as a sequel of the 1976 convention of the American Legion in some of the Legionnaires who had attended the convention. It was therefore named Legionnaire disease. The distinguished surgeon/writer Richard Selzer has recounted his own near-fatal experience with Legionnaire disease in "Raising the Dead. A Doctor's Encounter with His Own Mortality" (Whittle/Viking, New York, 1993).

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Goiter: Enlargement of the thyroid gland.

A goiter is not cancerous. It is simply a thyroid gland that is bigger than usual.

A goiter can be associated with levels of thyroid hormone that are normal (euthyroid), too high (hyperthyroid) or too low (hypothyroid).

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Medical profession: A vocation characterized by a specialized body of knowledge of medicine that its members must teach and expand, by a code of ethics and a duty of service that put patient care above self-interest, and by the privilege of self-regulation granted by society.

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Campomelic dysplasia: A severe birth defect that affects the formation of the bones, genital organs, and facial features. The name "campomelic" comes from the Greek words meaning "bent limb." Physical features of the condition typically include bowing of the long bones of the legs and sometimes the arms, characteristic dimpling of the skin over the abnormal bones, shortened legs, underdeveloped shoulder blades, dislocated hips, abnormally rotated feet (clubfeet), and an abnormal number of ribs. Distinctive facial features include a small chin, prominent eyes, and a flattened face. Maldevelopment of the airway in affected people can cause difficulty breathing.

Abnormalities of the genitalia may result in ambiguous genitalia (that do not appear clearly male or female), and the internal sex organs may not correspond with the appearance of the external genitalia. Pierre-Robin sequence is a cluster of abnormalities that often occur in people with campomelic dysplasia. It includes an opening in the roof of the mouth (a cleft palate), a tongue that is placed further back than normal (glossoptosis), and a small lower jaw (micrognathia).

Campomelic dysplasia is inherited in an autosomal dominant pattern, and estimates of its prevalence range from 1 in 40,000 to 200,000 births. It is caused by mutations in a gene known as SOX9. Only a few people with campomelic dysplasia survive past infancy.

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Parasitic: Having to do with a parasite, as in a parasitic infection; or acting like a parasite by taking nourishment from another.

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Arrayed library: In genetics, an arrayed library consists of (in technical terms) individual primary recombinant clones which are hosted in phage, cosmid, YAC, or another vector that have been placed in two- dimensional arrays in microtiter dishes (plastic dishes with an orderly array of tiny wells). Each primary clone can be identified by the identity of the plate and the clone location (row and column) on that plate. Arrayed libraries of clones are used for many purposes, including screening for a specific gene or genomic region. The information gathered on individual clones from genetic linkage and physical map studies is then entered into a database and used to construct physical and genetic linkage maps

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Cold, June: A popular term for hay fever. Although the symptoms of a "June cold" may be quite similar to those of a real cold, the term "June cold" is a misnomer. Unlike a real cold, it is not caused by a virus, but by allergy. It is therefore also known as allergic rhinitis, a runny nose due to an allergy.

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de Musset sign: Rhythmic nodding or bobbing of the head in synchrony with the heart beat, a sign of aortic insufficiency --incompetence of the aortic valve with aortic regurgitation. The causes include syphilitic aortitis, rheumatic fever, and aortic aneurysm. Named after the French Romantic poet and playwright Alfred de Musset (1810-1857).

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Hem-onc: Short for Hematology-oncology.

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Necrosis: The death of living cells or tissues. Necrosis can be due, for example, to ischemia (lack of blood flow). From the Greek "nekros" (dead body).

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MAO inhibitor: Monoamine oxidase inhibitor. One of a potent class of medications used to treat depression.

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Labial herpes: A small sore situated on the face or in the mouth that causes pain, burning, or itching before bursting and crusting over. The favorite locations are on the lips (the labia), chin or cheeks and in the nostrils. Less frequented sites are the gums or roof of the mouth (the palate).

Labial herpes is also called fever blisters or cold sores. It is caused by herpes simplex virus type 1. The virus lies latent (dormant) in the body and is reawakened (reactivated) by factors such as stress, sunburn, or fever from a wide range of infectious diseases including colds. Recurrences are less common after age 35. Sunscreen (SPF 15 or more) on the lips prevents recurrences of herpes from sunburn.

The virus is highly contagious when fever blisters are present. It is spread by kissing. Children become infected by contact with someone who has a fever blister and then they spread the virus by rubbing their cold sore and touching other children. A person with fever blisters should be careful not to touch the blisters and spread the virus to new sites, such as the eyes or genitals.

There is no cure for fever blisters. Medications that can relieve some of the pain and discomfort include ointments that numb the blisters, antibiotics that control secondary bacterial infections, and ointments that soften the crests of the sores. Acyclovir, an antiviral drug, prevents the herpes simplex virus from multiplying and, in pill form, has been reported to reduce the symptoms and frequency of recurrence.

Fever blisters have plagued people for thousands of years. In ancient Rome, an epidemic of fever blisters prompted Emperor Tiberius to ban kissing in public ceremonies. Today, fever blisters still occur in epidemic proportions. About 100 million episodes of recurrent fever blisters occur yearly in the US alone.

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Juxtavesicular: Near the bladder. From juxta-, meaning near, nearby, or close + vesicular, referring to the bladder (the vesicle).

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Keloid: A scar that doesn't know when to stop. When the skin is injured, cells grow back to fill in the gap. Somehow, they normally "know" when the scar tissue is level with the skin, at which point the cells stop multiplying. When the cells keep on reproducing, the result is a what is called a overgrown (hypertrophic) scar or a keloid. The result is a keloid -- a tough heaped-up scar that rises quite abruptly above the rest of the skin. It is irregularly shaped and tends to enlarge progressively.

In other words, keloids are due to an excessive response to trauma such as a cut to the skin. In creating a normal scar, connective tissue in the skin is repaired by the formation of collagen. This occurs in the dermis (the layer of skin just below the epidermis, the outer layer of skin). Keloids arise when there is too much collagen formed in the dermis during the repair of connective tissue.

To develop keloids, a person must be susceptible to keloid formation. This susceptibility is clearly genetic. For instance, keloids are known to have occurred in 5 successive generations within a single family.

People of African or Asian descent are more likely to get keloids than people with lighter skin. These peoples tend to have keloid susceptibility genes. This tendency to form keloids is important when someone of African or Asian descent is considering elective plastic surgery; the surgery can cause more trouble than it cures.

The dense tumorlike scar was called a "keloid" ("cheloïde" in French) in 1835 by the dermatologist Jean-Louis Albert. However, the word "keloid" was already in use in France as early as 1817, according to the Nouveau Petit Robert Dictionaire. The origin of the term "keloid" is not entirely certain. The Petit Robert attributes it to the Greek word "chele" meaning in French "pince" and in English "a talon, claw, or hoof." Other authorities such as Dorland's Illustrated Medical Dictionary attribute "keloid" to the Greek " kelis", "blemish" or to the Greek "kele", "a rupture."

To learn more, see Keloid.

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Infant water requirements: Water is an important part of a baby's diet because water makes up a large proportion of the baby's body.

When properly prepared, all infant formulas are approximately 85% water. Infant formulas are available in three forms: liquid ready-to-use, liquid concentrate, and powder concentrate. Liquid ready-to-use formulas do not require the addition of water, while the liquid and powder concentrates require the addition of water. It is of prime importance for parents to read, understand, and follow the manufacturer's directions when adding water to liquid and powder concentrates.

Too much water: Adding too much water to these formula concentrates or adding water to ready-to-use formulas can lead to water intoxication in the baby. In severe cases, water intoxication can cause low blood sodium levels, irritability, coma, and even permanent brain damage.

Not enough water: failing to adequately dilute the concentrates with water causes the formulas to be too "hypertonic." Hypertonic formulas can induce diarrhea and dehydration. In extreme cases, ingestion of overly hypertonic formulas can lead to kidney failure, gangrene of the legs, and coma.

Therefore, parents should not adjust the amount of water that is added to concentrates to either "fatten the baby up" or "put the baby on a diet." Instead, parents should discuss their concerns regarding the baby's calorie intake with his/her pediatrician.

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Hemorrhage: Bleeding or the abnormal flow of blood.

The patient may have an internal hemorrhage that is invisible or an external hemorrhage that is visible on the outside of the body. Bleeding into the spleen or liver is internal hemorrhage. Bleeding from a cut on the face is an external hemorrhage.

The term "hemorrhagic" comes from the Greek "haima," blood + rhegnumai," to break forth = a free and forceful escape of blood.

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Fart: This is not an accepted medical word for passing gas. Excess gas in the intestinal is medically termed "flatulence." (But what is excess gas is difficult to define since symptom-free individuals have recorded approximately 14 passages of gas per 24 hours!)

The Oxford English Dictionary (OED), in its inimitable way, notes that the word "fart" is "not in decent use." The OED defines the transitive verb form of fart: "To send forth as wind from the anus 1632." The word comes from the Old English "feortan" (meaning "to break wind"). Although the word "fart" is "not in decent use," it was used by the likes of the great English poet Geoffrey Chaucer.

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Glycemic index: An indicator of the ability of different types of foods that contain carbohydrate to raise the blood glucose levels within 2 hours. Foods containing carbohydrates that break down most quickly during digestion have the highest glycemic index. Also called the dietary glycemic index.

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Efferent nerve: A nerve that carries impulses away from the central nervous system (CNS). An efferent nerve is the opposite of an afferent nerves that carries impulses toward the CNS.

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