Abdomen: The belly, that part of the body that contains all of the structures between the chest and the pelvis. The abdomen is separated anatomically from the chest by the diaphragm, the powerful muscle spanning the body cavity below the lungs. See the entire definition of Abdomen
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).
Allele: An alternative form of a gene. One of the different forms of a gene that can exist at a single locus (spot on a chromosome). Also one of the different forms of any segment of a chromosome.
Alpha-1 antitrypsin deficiency: An inherited disorder that results in low or no production of a protein called alpha-1 antitrypsin. This deficiency leads to damage of various organs, principally the lungs and liver. Symptoms can surface at a very early age or in adulthood and relate to the lungs (with shortness of breath) or the liver. There are several options for treatment of the lung disease, including replacement of the missing protein. Treatment of the liver disease is a well-timed liver transplant. See the entire definition of Alpha-1 antitrypsin deficiency
Alveoli: The plural of alveolus. The alveoli are tiny air sacs within the lungs where the exchange of oxygen and carbon dioxide takes place.
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
Breathing: The process of respiration, during which air is inhaled into the lungs through the mouth or nose due to muscle contraction, and then exhaled due to muscle relaxation.
Cell: The basic structural and functional unit in people and all living things. Each cell is a small container of chemicals and water wrapped in a membrane. See the entire definition of Cell
Chest: The area of the body located between the neck and the abdomen. The chest contains the lungs, the heart and part of the aorta. The walls of the chest are supported by the dorsal vertebrae, the ribs, and the sternum. See the entire definition of Chest
Cough: A rapid expulsion of air from the lungs typically in order to clear the lung airways of fluids, mucus, or material. Also called tussis.
Elastase: An enzyme that digests and degrades a number of proteins including elastin, an elastic substance in the lungs and some other organs that supports their structural framework. Elastase is specifically inhibited by alpha-1 antitrypsin. See also: Alpha-1 antitrypsin deficiency.
Emphysema: 1) A lung condition featuring an abnormal accumulation of air in the lung's many tiny air sacs, a tissue called alveoli. As air continues to collect in these sacs, they become enlarged, and may break, or be damaged and form scar tissue. Emphysema is strongly associated with smoking cigarettes, a practice that causes lung irritation. It can also be associated with or worsened by repeated infection of the lungs, such as is seen in chronic bronchitis. The best response to the early warning signs of emphysema is prevention: stop smoking and get immediate treatment for incipient lung infections. Curing established emphysema is not yet possible. Because patients don't have an adequate amount of space in the lungs to breathe, they gasp for breath, and may not be able to obtain enough oxygen. Those with severe emphysema usually end up using an oxygen machine to breathe. In some cases, medication may be helpful to ease symptoms or to treat infection in already-damaged lungs. See the entire definition of Emphysema
Enzyme: A protein (or protein-based molecule) that speeds up a chemical reaction in a living organism. An enzyme acts as catalyst for specific chemical reactions, converting a specific set of reactants (called substrates) into specific products. Without enzymes, life as we know it would not exist. See the entire definition of Enzyme
Fatigue: A condition characterized by a lessened capacity for work and reduced efficiency of accomplishment, usually accompanied by a feeling of weariness and tiredness. Fatigue can be acute and come on suddenly or chronic and persist. See the entire definition of Fatigue
Gene: The basic biological unit of heredity. A segment of deoxyribonucleic acid (DNA) needed to contribute to a function. See the entire definition of Gene
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.
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. See the entire definition of Genetics
Infection: The growth of a parasitic organism within the body. (A parasitic organism is one that lives on or in another organism and draws its nourishment therefrom.) A person with an infection has another organism (a "germ") growing within him, drawing its nourishment from the person. See the entire definition of Infection
Jaundice: Yellow staining of the skin and sclerae (the whites of the eyes) by abnormally high blood levels of the bile pigment bilirubin. The yellowing extends to other tissues and body fluids. Jaundice was once called the "morbus regius" (the regal disease) in the belief that only the touch of a king could cure it. See the entire definition of Jaundice
Liver: An organ in the upper abdomen that aids in digestion and removes waste products and worn-out cells from the blood. The liver is the largest solid organ in the body. The liver weighs about three and a half pounds (1.6 kilograms). It measures about 8 inches (20 cm) horizontally (across) and 6.5 inches (17 cm) vertically (down) and is 4.5 inches (12 cm) thick.
Liver disease: Liver disease refers to any disorder of the liver. The liver is a large organ in the upper right abdomen that aids in digestion and removes waste products from the blood. See the entire definition of Liver disease
Lungs: The lungs are a pair of breathing organs located with the chest which remove carbon dioxide from and bring oxygen to the blood. There is a right and left lung.
Neutrophil: A type of white blood cell, specifically a form of granulocyte, filled with neutrally-staining granules, tiny sacs of enzymes that help the cell to kill and digest microorganisms it has engulfed by phagocytosis. The mature neutrophil has a segmented nucleus (it is called a seg or poly) while the immature neutrophil has band-shape nucleus (it is called a band). The neutrophil has a lifespan of about 3 days. See the entire definition of Neutrophil
Organ: A relatively independent part of the body that carries out one or more special functions. The organs of the human body include the eye, ear, heart, lungs, and liver.
Prevalence: The proportion of individuals in a population having a disease. Prevalence is a statistical concept referring to the number of cases of a disease that are present in a particular population at a given time.
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
Pulmonary: Having to do with the lungs. (The word comes from the Latin pulmo for lung).
Respiratory: Having to do with respiration, the exchange of oxygen and carbon dioxide. From the Latin re- (again) + spirare (to breathe) = to breathe again.
Shortness of breath: Difficulty in breathing. Medically referred to as dyspnea. Shortness of breath can be caused by respiratory (breathing passages and lungs) or circulatory (heart and blood vessels) conditions. See also dyspnea.
Tobacco: A South American herb, formally known as Nicotiana tabacum, whose leaves contain 2-8% nicotine and serve as the source of smoking and smokeless tobacco. See the entire definition of Tobacco
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
Weight loss: Weight loss is a decrease in body weight resulting from either voluntary (diet, exercise) or involuntary (illness) circumstances. Most instances of weight loss arise due to the loss of body fat, but in cases of extreme or severe weight loss, protein and other substances in the body can also be depleted. Examples of involuntary weight loss include the weight loss associated with cancer, malabsorption (such as from chronic diarrheal illnesses ), and chronic inflammation (such as with rheumatoid arthritis).
Wheezing: A whistling noise in the chest during breathing when the airways are narrowed or compressed.
Cirrhosis of the liver refers to a disease in which normal liver cells are replaced by scar tissue caused by alcohol and viral hepatitis B and C. This disease leads to abnormalities in the liver's ability to handle toxins and blood flow, causing internal bleeding, kidney failure, mental confusion, coma, body fluid accumulation, and frequent infections. Symptoms include yellowing of the skin, itching, and fatigue.
Chronic cough is a cough that does not go away and is generally a symptom of another disorder such as asthma, allergic rhinitis, sinus infection, cigarette smoking, GERD, postnasal drip, bronchitis, pneumonia, medications, and less frequently tumors or other lung disease. Treatment of chronic cough is dependant upon the cause.
Jaundice is a yellowish staining of the skin and whites of the eyes (sclerae) with bilirubin, the pigment found in bile. Jaundice can be an indicator of liver or gallbladder disease, or it may result from the rupture of red blood cells (hemolysis).
COPD (chronic obstructive pulmonary disease) is a disorder that persistently obstructs bronchial airflow. COPD mainly involves three related conditions, chronic bronchitis, chronic asthma, and emphysema. Symptoms of COPD include chronic cough, shortness of breath, frequent respiratory infections, wheezing, morning headaches, and pulmonary hypertension. Treatment of COPD is focused on the related condition(s).
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.
Chronic bronchitis is a cough that occurs daily with production of sputum that lasts for at least three months, two years in a row. Causes of chronic bronchitis include cigarette smoking, inhaled irritants, and underlying disease processes (such as asthma, or congestive heart failure). Symptoms include cough, shortness of breath, and wheezing. Treatments include bronchodilators and steroids. Complications of chronic bronchitis include COPD and emphysema.
Smoking is an addiction. More than 430,000 deaths occur each year in the U.S. from smoking related illnesses. Secondhand smoke or "passive smoke" also harm family members, coworkers, and others around smokers. There are a number of techniques available to assist people who want to quit smoking.
Bronchiectasis is a condition in which the bronchial tubes of the lung become damaged. Inflammation from infection or other causes destroys the smooth muscles of the bronchial tubes. Bronchiectasis is a form of COPD (which includes emphysema and chronic bronchitis). There are three primary types of bronchiectasis: 1) cylindrical bronchiectasis; 2) saccular bronchiectasis; and 3) cystic bronchiectasis. Bronchiectasis may also be acquired or congenital. The most common symptoms of bronchiectasis are recurrent cough and sputum production. There is no cure for bronchiectasis. Treatment is often geared toward controlling the symptoms of bronchiectasis.
Weber-Christian disease is a rare inflammatory disease that affects the body's fat tissues. It's also known as relapsing febrile nodular panniculitis syndrome and idiopathic lobular panniculitis. The disorder appears on the skin as red or purple tender, raised lumps. The thighs and lower legs are the most frequently affected areas. Other symptoms may include nausea, vomiting, weight loss, joint pain, and abdominal pain. Though there is no cure for the disease, inflammation may be treated with various antiinflammatory medications.
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.
What are genetic professionals and what do they do?
Genetics professionals are health care professionals with specialized degrees
and experience in medical genetics and counseling. Genetics professionals
include geneticists, genetic counselors and genetics nurses.
What is genetic counseling and evaluation?
Genetic professionals work as members of health care teams providing
information and support to individuals or families who have genetic disorders or
may be at risk for inherited conditions. Genetic professionals:
Assess the risk of a genetic disorder by researching a family's history and
evaluating medical records.
Weigh the medical, social and ethical decisions surrounding genetic
testing.
Provide support and information to help a person make a decision about
testing.
Interpret the results of genetic tests and medical data.
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