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).
Autosomal: Pertaining to a chromosome that is not a sex chromosome; relating to any one of the chromosomes save the sex chromosomes. See the entire definition of Autosomal
Autosomal dominant: A pattern of inheritance in which an affected individual has one copy of a mutant gene and one normal gene on a pair of autosomal chromosomes. (In contrast, autosomal recessive diseases require that the individual have two copies of the mutant gene.) Individuals with autosomal dominant diseases have a 50-50 chance of passing the mutant gene and therefore the disorder onto each of their children. Examples of autosomal dominant diseases include Huntington disease, neurofibromatosis, and polycystic kidney disease.
Biopsy: The removal of a sample of tissue for purposes of diagnosis. (Many definitions of "biopsy" stipulate that the sample of tissue is removed for examination under a microscope. This may or may not be the case. The diagnosis may be achieved by other means such as by analysis of chromosomes or genes.) See the entire definition of Biopsy
Bowel: Another name for the intestine. The small bowel and the large bowel are the small intestine and large intestine, respectively. See the entire definition of Bowel
Clubfoot: A common malformation of the foot that is evident at birth. The foot is turned in sharply so that the person seems to be walking on their ankle. The medical term for the common ("classic") type of clubfoot is talipes equinovarus. Clubfoot can sometimes, but not always, be corrected with a combination of surgery, bracing, and physical therapy. When it cannot be fully corrected, special shoes and braces are available to help the person achieve a more comfortable gait and avoid stressing and deforming other muscles and bones. See the entire definition of Clubfoot
Collagen: Collagen is the principal protein of the skin, tendons, cartilage, bone and connective tissue.
Connective tissue: A material made up of fibers forming a framework and support structure for body tissues and organs. Connective tissue surrounds many organs. Cartilage and bone are specialized forms of connective tissue. All connective tissue is derived from mesoderm, the middle germ cell layer in the embryo.
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. See the entire definition of Diagnosis
Ehlers-Danlos syndrome: A heritable disorder of connective tissue with easy bruising, joint hypermobility (loose joints), skin laxity, and weakness of tissues. There are a number of different types of Ehlers-Danlos syndrome (EDS) which share the foregoing features but can be categorized into at least nine different types: See the entire definition of Ehlers-Danlos syndrome
Family history: The family structure and relationships within the family, including information about diseases in family members. See the entire definition of Family history
Genes: The basic biological units of heredity. Segments of deoxyribonucleic acid (DNA) needed to contribute to a function. See the entire definition of Genes
Genetic: Having to do with genes and genetic information.
Inheritance: Not something that is contained in a will, but rather a gene, chromosome or genome that is transmitted from parent to child. See the entire definition of Inheritance
Injury: Harm or hurt. The term "injury" may be applied in medicine to damage inflicted upon oneself as in a hamstring injury or by an external agent on as in a cold injury. The injury may be accidental or deliberate, as with a needlestick injury. The term "injury" may be synonymous (depending on the context) with a wound or with trauma.
Joint: A joint is the area where two bones are attached for the purpose of motion of body parts. A joint is usually formed of fibrous connective tissue and cartilage. An articulation or an arthrosis is the same as a joint. See the entire definition of Joint
Kyphoscoliosis: Combination of kyphosis and scoliosis (lateral curving of the spine). Part of good health maintenance is to check a child's back (from infancy through adolescence) to make sure the back looks normal and, if concerned, a doctor is consulted.
Muscle: Muscle is the tissue of the body which primarily functions as a source of power. There are three types of muscle in the body. Muscle which is responsible for moving extremities and external areas of the body is called "skeletal muscle." Heart muscle is called "cardiac muscle." Muscle that is in the walls of arteries and bowel is called "smooth muscle."
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. See the entire definition of Mutation
Offspring: The offspring are strictly speaking the progeny, or young, born to a person. See the entire definition of Offspring
Protein: A large molecule composed of one or more chains of amino acids in a specific order determined by the base sequence of nucleotides in the DNA coding for the protein. See the entire definition of Protein
Proteins: Large molecules composed of one or more chains of amino acids in a specific order determined by the base sequence of nucleotides in the DNA coding for the protein. See the entire definition of Proteins
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. See the entire definition of Recessive
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.
Scoliosis: Sideways (lateral) curving of the spine (the backbone). See the entire definition of Scoliosis
Skin biopsy: Removal of a piece of skin for the purpose of further examination in the laboratory using a microscope.
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.
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. See the entire definition of Syndrome
Trait: In genetics, a trait refers to any genetically determined characteristic. In technical terms, a genetic trait is amenable to segregation analysis rather than quantitative analysis. See the entire definition of Trait
Trauma: Any injury, whether physically or emotionally inflicted. "Trauma" has both a medical and a psychiatric definition. Medically, "trauma" refers to a serious or critical bodily injury, wound, or shock. This definition is often associated with trauma medicine practiced in emergency rooms and represents a popular view of the term. In psychiatry, "trauma" has assumed a different meaning and refers to an experience that is emotionally painful, distressful, or shocking, which often results in lasting mental and physical effects. See the entire definition of Trauma
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. See the entire definition of Vascular
Abdominal aortic aneurysm is a ballooning or widening of the main artery (the aorta) as it courses down through the abdomen. The most common cause of aortic aneurysms is
"hardening of the arteries" called arteriosclerosis.
Emphysema is a progressive disease of the lungs. The primary cause of emphysema is smoking. Alpha 1-antitrypsin deficiency is a rare disorder that has a genetic predisposition to emphysema. Aging, IV drug use, immune deficiencies, and connect tissue illnesses are also risk factors for emphysema. Emphysema is a subtype of COPD (chronic obstructive pulmonary disease, COLD). Symptoms include shortness of breath and wheezing. Management of symptoms may be achieved with medications, quitting smoking, pulmonary rehabilitation, or surgery.
Connective tissue disease is when the body's connective tissues come under attack, possibly becoming injured by inflammation. Inherited connective tissue diseases include Marfan syndrome and Ehlers-Danlos syndrome. Systemic lupus erythematosus, rheumatoid arthritis, scleroderma, polymositis, and dermatomyositis are examples of connective tissue diseases that have no known cause.
The joint hypermobility syndrome is a condition in which the joints easily move beyond the normal range expected for a particular joint. The condition tends to run in families. Symptoms of hypermobility syndrome include joint pain. People with hypermobility syndrome are more susceptible to injury, including dislocations and sprains. Anti-inflammatory drugs can help with joint pain. Exercise can strengthen muscles, providing stability.
Aortic dissection is a small tear in the large blood vessel that leads from the heart and supplies blood to the body. There are two types of aortic dissection, type 1 and type 2. Signs and symptoms of aortic dissection include a tearing or ripping pain, nausea, sweating, weakness, shortness of breath, sweating, or fainting. Treatment depends on the type of aortic dissection, and the severity of the tear in the aorta.
Pregnancy planning is important to help prevent exposure of the mother and fetus to potentially harmful medications and substances during the early days, and throughout the pregnancy. Nutritional planning, prevention of birth defects, conditions such as high blood pressure, heart disease, diabetes, and kidney disease need careful monitoring. Gestational diabetes, preeclampsia, and pregnancy induced hypertension are conditions that may arise during pregnancy. Immunizations, inherited disorders, exercise, air travel, intercourse, and birth control are important factors to consider when planning a pregnancy.
Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
The aorta is the large blood vessel that leads from the heart and carries
blood to the rest of the body. The aorta originates at the aortic valve at the
outlet of the left ventricle of the heart. It ascends in the chest to an arch
where blood vessels branch off to supply blood flow to the arms and head. It
then begins to descend through the chest and into the abdomen, where it splits
into two iliac arteries that provide blood flow to the legs. Along its descent,
more small arteries branch out to supply blood to the stomach, intestine, colon,
kidneys, and the spinal cord.
The aorta has a thick wall, with three layers of muscle that allow the blood
vessel to withstand the high pressure that is generated when the heart pumps
blood to the body. The three layers are the tunica intima, tunica media, and the
tunic adventitia. The intima is the inside layer that is in contact with the
blood, the media is in the middl...
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