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 Loeys-Dietz Syndrome Main Article |  Glossary |  Loeys-Dietz Syndrome Index 

Loeys-Dietz Syndrome Glossary of Terms

The following are health and medical definitions of terms that appear in the Loeys-Dietz Syndrome article.

Abnormal: Not normal. Deviating from the usual structure, position, condition, or behavior. In referring to a growth, abnormal may mean that it is cancerous or premalignant (likely to become cancer ).
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Aneurysm: A localized widening (dilatation) of an artery, vein, or the heart. At the area of an aneurysm, there is typically a bulge and the wall is weakened and may rupture. The word "aneurysm" comes from the Greek "aneurysma" meaning "a widening."

Aorta: The largest artery in the body, the aorta arises from the left ventricle of the heart, goes up (ascends) a little ways, bends over (arches), then goes down (descends) through the chest and through the abdomen to where ends by dividing into two arteries called the common iliac arteries that go to the legs.
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Aortic: Pertaining to the aorta , the largest artery in the body.
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Aortic aneurysm: An outpouching (a local widening) of the largest artery in the body, the aorta, involving that vessel in its course above the diaphragm (thoracic aortic aneurysm) or, more commonly, below the diaphragm ( abdominal aortic aneurysm ). The diagnosis of an aortic aneurysm can be straight forward or difficult. Around 1900 the eminent physician William Osler said: "There is no disease more conducive to clinical humility than aneurysm of the aorta." At the area of the aneurysm, there is typically a bulge and the wall is weakened and may rupture. Because of the volume of blood flowing under relatively high pressure through the aorta, a ruptured aneurysm of the aorta is a catastrophe.
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Artery: A vessel that carries blood high in oxygen content away from the heart to the farthest reaches of the body. Since blood in arteries is usually full of oxygen, the hemoglobin in the red blood cells is oxygenated. The resultant form of hemoglobin (oxyhemoglobin) is what makes arterial blood look bright red.
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Blood: The familiar red fluid in the body that contains white and red blood cells, platelets, proteins, and other elements. The blood is transported throughout the body by the circulatory system. Blood functions in two directions: arterial and venous. Arterial blood is the means by which oxygen and nutrients are transported to tissues while venous blood is the means by which carbon dioxide and metabolic by-products are transported to the lungs and kidneys, respectively, for removal from the body.

Brain: That part of the central nervous system that is located within the cranium ( skull ). The brain functions as the primary receiver, organizer and distributor of information for the body. It has two (right and left) halves called "hemispheres."
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Cleft palate: An opening in the roof of the mouth (the palate) due to a failure of the palatal shelves to come fully together from either side of the mouth and fuse, as they normally should, during embryonic development.
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Computerized tomography: Pictures of structures within the body created by a computer that takes the data from multiple X-ray images and turns them in pictures.
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Condition: The term "condition" has a number of biomedical meanings including the following:

  1. An unhealthy state, such as in "this is a progressive condition."
  2. A state of fitness, such as "getting into condition."
  3. Something that is essential to the occurrence of something else; essentially a "precondition."
  4. As a verb: to cause a change in something so that a response that was previously associated with a certain stimulus becomes associated with another stimulus; to condition a person, as in behavioral conditioning.

Contrast: Short for "contrast media." Contrast media are X-ray dyes used to provide contrast, for example, between blood vessels and other tissue.

Craniosynostosis: Premature fusion of the cranial sutures (the fibrous joints between the bones of the skull ) in an infant, preventing normal growth of the baby's head. Craniosynostosis involving some but not all of the sutures causes an abnormally shaped skull. Premature closure of all of the sutures results in microcephaly (an abnormally small head) which arrests the normal growth and development of the baby's brain and may result in developmental delay and mental retardation . Early detection of the condition is therefore of great importance. Treatment is surgery designed to keep the sutures open.
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Diagnosis: 1 The nature of a disease ; the identification of an illness. 2 A conclusion or decision reached by diagnosis. The diagnosis is rabies . 3 The identification of any problem. The diagnosis was a plugged IV.
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Dominant: A genetic trait is considered dominant if it is expressed in a person who has only one copy of that gene. (In genetic terms, a dominant trait is one that is phenotypically expressed in heterozygotes).
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Family: 1. A group of individuals related by blood or marriage or by a feeling of closeness. 2. A biological classification of related plants or animals that is a division below the order and above the genus. 3. A group of genes related in structure and in function that descended from an ancestral gene. 4. A group of gene products similarly related in structure and function and of shared genetic descent. 5. Parents and their children. The most fundamental social group in humans.

Family history: The family structure and relationships within the family, including information about diseases in family members.
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Gene: The basic biological unit of heredity . A segment of deoxyribonucleic acid (DNA) needed to contribute to a function.
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Genes: The basic biological units of heredity . Segments of deoxyribonucleic acid (DNA) needed to contribute to a function.
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Genetic: Having to do with genes and genetic information.

Genetics: The scientific study of heredity . Genetics pertains to humans and all other organisms. So, for example, there is human genetics, mouse genetics, fruitfly genetics, etc.
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Heart: The muscle that pumps blood received from veins into arteries throughout the body. It is positioned in the chest behind the sternum (breastbone; in front of the trachea, esophagus, and aorta; and above the diaphragm muscle that separates the chest and abdominal cavities. The normal heart is about the size of a closed fist, and weighs about 10.5 ounces. It is cone-shaped, with the point of the cone pointing down to the left. Two-thirds of the heart lies in the left side of the chest with the balance in the right chest.
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Magnetic resonance imaging : A special radiology technique designed to image internal structures of the body using magnetism, radio waves, and a computer to produce the images of body structures. In magnetic resonance imaging (MRI), the scanner is a tube surrounded by a giant circular magnet. The patient is placed on a moveable bed that is inserted into the magnet. The magnet creates a strong magnetic field that aligns the protons of hydrogen atoms, which are then exposed to a beam of radio waves. This spins the various protons of the body, and they produce a faint signal that is detected by the receiver portion of the MRI scanner. A computer processes the receiver information, and an image is produced. The image and resolution is quite detailed and can detect tiny changes of structures within the body, particularly in the soft tissue, brain and spinal cord, abdomen and joints.
See the entire definition of Magnetic resonance imaging

Marfan syndrome: An inherited disorder of connective tissue characterized by abnormalities of the eyes, skeleton, and cardiovascular system.
See the entire definition of Marfan syndrome

Molecule: The smallest unit of a substance that can exist alone and retain the character of that substance.

MRI: Abbreviation and nickname for magnetic resonance imaging. For more information, see: Magnetic Resonance Imaging; Paul C. Lauterbur; Peter Mansfield.

Mutation: A permanent change, a structural alteration, in the DNA or RNA . In humans and many other organisms, mutations occur in DNA. However, in retroviruses like HIV , mutations occur in RNA which is the genetic material of retroviruses.
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New England Journal of Medicine: Despite its regional name, The New England Journal of Medicine (NEJM) is far from provincial. It is an eminent weekly national and international general medical journal, devoted to no single specialty, but to all of medicine. The Journal is published by the Massachusetts Medical Society and is closely associated with the medical schools (Boston University, Harvard and Tufts) in the Boston area.
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Osteoporosis: Thinning of the bones with reduction in bone mass due to depletion of calcium and bone protein . Osteoporosis predisposes a person to fractures, which are often slow to heal and heal poorly. It is more common in older adults, particularly post-menopausal women; in patients on steroids; and in those who take steroidal drugs. Unchecked osteoporosis can lead to changes in posture , physical abnormality (particularly the form of hunched back known colloquially as " dowager's hump "), and decreased mobility.
See the entire definition of Osteoporosis

Palate: The roof of the mouth. The front portion is bony (hard palate), and the back portion is muscular (soft palate).
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Pediatric: Pertaining to children.

Prognosis: 1. The expected course of a disease .
2. The patient's chance of recovery.
The prognosis predicts the outcome of a disease and therefore the future for the patient . His prognosis is grim, for example, while hers is good.
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Receptor: 1. In cell biology, a structure on the surface of a cell (or inside a cell) that selectively receives and binds a specific substance. There are many receptors. There is a receptor for ( insulin ; there is a receptor for low-density lipoproteins ( LDL ); etc. To take an example, the receptor for substance P, a molecule that acts as a messenger for the sensation of pain , is a unique harbor on the cell surface where substance P docks. Without this receptor, substance P cannot dock and cannot deliver its message of pain. Variant forms of nuclear hormone receptors mediate processes such as cholesterol metabolism and fatty acid production. Some hormone receptors are implicated in diseases such as diabetes and certain types of cancer. A receptor called PXR appears to jump-start the body's response to unfamiliar chemicals and may be involved in drug-drug interactions.
2. In neurology, a terminal of a sensory nerve that receives and responds to stimuli.
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Recessive: A condition that appears only in individuals who have received two copies of a mutant gene, one copy from each parent. The individuals with a double dose of the mutated gene are called homozygotes. Their parents, each with a single dose of the mutated gene, appear normal and are called heterozygotes, or gene carriers.
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Rupture: A break or tear in any organ (such as the spleen) or soft tissue (such as the achilles tendon). Rupture of the appendix is more likely among uninsured and minority children when they develop appendicitis.

Skull: The skull is a collection of bones which encase the brain and give form to the head and face. The bones of the skull include the following: the frontal, parietal, occipital, temporal, sphenoid, ethmoid, zygomatic, maxilla, nasal, vomer, palatine, inferior concha, and mandible.
See the entire definition of Skull

Spine: 1) The column of bone known as the vertebral column, which surrounds and protects the spinal cord. The spine can be categorized according to level of the body: i.e., cervical spine (neck), thoracic spine (upper and middle back), and lumbar spine (lower back). See also vertebral column. 2) Any short prominence of bone. The spines of the vertebrae protrude at the base of the back of the neck and in the middle of the back. These spines protect the spinal cord from injury from behind.

Surgery: The word "surgery" has multiple meanings. It is the branch of medicine concerned with diseases and conditions which require or are amenable to operative procedures. Surgery is the work done by a surgeon. By analogy, the work of an editor wielding his pen as a scalpel is s form of surgery. A surgery in England (and some other countries) is a physician's or dentist's office.
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Syndrome: A set of signs and symptoms that tend to occur together and which reflect the presence of a particular disease or an increased chance of developing a particular disease.
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Tomography: The process for generating a tomogram , a two-dimensional image of a slice or section through a three-dimensional object. Tomography achieves this remarkable result by simply moving an x-ray source in one direction as the x-ray film is moved in the opposite direction during the exposure to sharpen structures in the focal plane, while structures in other planes appear blurred. The tomogram is the picture; the tomograph is the apparatus; and tomography is the process.
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Uvula: The small piece of soft tissue that can be seen dangling down from the soft palate over the back of the tongue . The uvula is described variously shaped like a U, a tear or a grape. Its name comes from the Latin word for "grape," uva.
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Vascular: Relating to the blood vessels of the body. The blood vessels of the body, as a group, are referred to as the vascular system.
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X-ray: 1. High-energy radiation with waves shorter than those of visible light. X-rays possess the properties of penetrating most substances (to varying extents), of acting on a photographic film or plate (permitting radiography), and of causing a fluorescent screen to give off light (permitting fluoroscopy). In low doses X-rays are used for making images that help to diagnose disease, and in high doses to treat cancer . Formerly called a Roentgen ray. 2. An image obtained by means of X-rays.
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 Loeys-Dietz Syndrome Main Article |  Glossary |  Loeys-Dietz Syndrome Index 




Suggested Reading by Our Doctors
MedicineNet Doctors
  • MRI (Magnetic Resonance Imaging Scan) - Medical information on magnetic resonance imaging (MRI) used in detecting structural abnormalities of the body. Learn uses, risks, and how to prepare for an MRI scan
  • Marfan Syndrome - Read about Marfan syndrome, a hereditary condition affecting connective tissue. A person with Marfan syndrome may exhibit the following symptoms and characteristics: dislocation of one or both lenses of the eye; a protruding or indented breastbone; scoliosis; flat feet; aortic dilatation; dural ectasia; stretch marks; hernia; and lung collapse. Though there is no cure for Marfan syndrome, there are treatments that can minimize and sometimes prevent some complications.
  • Chest X-ray - A chest x-ray is a radiology test that involves exposing the chest briefly to radiation to produce an image of the chest and the internal organs of the chest. chest x-ray can be used to define abnormalities of the lungs such as excessive fluid, pneumonia, bronchitis, asthma, cysts, and cancers.

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Loeys-Dietz Syndrome

What is Ehlers-Danlos syndrome?

Ehlers-Danlos syndromes are a group of disorders which share common features including easy bruising, joint hypermobility (loose joints), skin that stretches easily (skin hyperelasticity or laxity), and weakness of tissues.

The Ehlers-Danlos syndromes are inherited in the genes that are passed from parents to offspring. They are categorized according to the form of genetic transmission into different types with many features differing between patients in any given type. The fragile skin and loose joints is often a result of abnormal genes that produce abnormal proteins that confer an inherited frailty of collagen (the normal protein "glue" of our tissues).

In 2001, researchers discovered a new form of Ehlers-Danlos syndrome that is caused by an inherited abnormality in a protein other than collagen that also normally plays a role in binding together the cells of our tissues (including the skin, tendons, muscle...

Read the Ehlers-Danlos Syndrome article »









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