Different genetic variants of a gene located at the same position on a chromosome.
An inflammatory process that occurs in the nasal passages in response to a foreign material (such as dust or pollen). This response often results in congestion, a runny nose, and an itchy nose.
Alpha-1 antitrypsin (AAT) deficiency
A genetic condition in which AAT is not released from the liver into the blood. As a result, the affected person may not have enough AAT throughout the body. Some individuals with AAT deficiency are not affected, but other individuals develop liver problems like cirrhosis and/or lung problems like emphysema.
Alpha-1 antitrypsin (AAT)
A protein made in the liver that is normally released into the blood. AAT functions to protect lung tissues from being destroyed by tissue-digesting enzymes that can damage cells.
Another name for alpha1-antitrypsin.
Of, pertaining to, or resembling the alveoli.
Small structures located in the lung where oxygen and carbon dioxide are exchanged between the blood and the air in the lungs. (Plural of alveolus)
Small air sac of the lungs.
Abnormal dilatation or bulge of a blood vessel, usually an artery. This dilatation is due to a weakness in the wall of the vessel, or a defect in the wall of the vessel. This weakness in the vessel wall may rupture.
Arterial blood gas (ABG)
A blood test used to determine how well the lungs are working to oxygenate the blood. A blood sample is taken from an artery, usually in the wrist. An ABG measures pH (acid/base balance), PaCO2 (carbon dioxide), PaO2 (oxygen), and SaO2 (the percentage of hemoglobin that is carrying oxygen).
A reversible condition of the lung that is characterized by airway inflammation, increased mucus secretion, and airway spasm, resulting in airflow obstruction.
A colorless gas that is heavier than air. It is the metabolic end product from the breakdown of food in the body and is eliminated through the lung.
Individuals that carry one normal and one abnormal gene. These individuals can pass an abnormal gene to their offspring.
A hollow space.
A threadlike structure in the nucleus of a cell that carries genetic information. A chromosome functions in the transmission of genetic information when a cell divides. Humans have 23 pairs of chromosomes in every cell.
A chronic degenerative disease of the liver characterized by extensive scarring and hardening. It is most often associated with advanced liver disease.
Cohn-Oncley Cold Alcohol Fractionation
The process used to isolate the desired plasma proteins that are of therapeutic interest. These desired proteins are used to make plasma derivative products.
Computed Tomography (CT)
A special x-ray procedure that uses a computer to produce a cross section image of tissue using multiple x-ray images. It is used to visualize soft tissues that are not shown by a conventional x-ray.
A scroll-like bone found in the skull, also called a turbinate.
A part of the respiratory tract that conducts air into the lungs, nose, pharynx, larynx, trachea, bronchi, and bronchioles.
Existing at and usually before birth. Congenital refers to a condition that is present at birth, regardless of cause.
COPD (chronic obstructive pulmonary disease)
A broad category of lung problems characterized by irreversible airflow obstruction. The condition is aggravated by cigarette smoking and air pollution. COPD includes emphysema, chronic bronchitis, and bronchiectasis. The airflow obstruction in COPD progresses slowly and may be accompanied by airway hyperactivity (asthma). When accompanied by asthma, the airflow obstruction may be partially reversible.
Medications frequently used to treat chronic lung diseases. These medications have potent anti-inflammatory activity and are used to treat asthma and COPD as well as other conditions. When these medications are taken orally or intravenously they can have serious long-term side effects. Individuals with lung disease often take corticosteroids by inhalation to reduce the severity of side effects by directly targeting the tissues involved in the inflammatory process. These medications should not be confused with anabolic steroids which are used to increase muscle mass.
The lowermost cartilage of the larynx.
Proteins secreted by cells in response to specific stimuli which are involved in cell-to-cell communication. These proteins help regulate immune response.
The ability of a tissue to spring back to the original shape after being stretched.
A protein that can be stretched and then return to the original size and shape, giving elastic-like properties to tissues containing elastin. It is found in the arteries, skin, and the lungs.
An abnormal condition of the lungs characterized by destruction of the alveoli, the loss of elasticity, and decreased gas exchange. This condition is one of the conditions included in COPD. The destruction is thought to be caused by the body’s own defense mechanisms, such as white blood cells and the digestive enzymes they contain.
Pertaining to, or of the nature of, emphysema; swelled, bloated.
Enveloped viral agents
A pathogen made of nucleic acid inside a protein shell, which can only grow and reproduce after infecting a host cell. The virus needs the host cell to reproduce and survive. Viruses are classified by the presence or absence of a viral envelope (the protein shell). Viruses with envelopes can escape the immune system and can easily invade other cells. The envelope contains antigens (protein markers recognizable by white blood cells). HIV is an example of an enveloped virus.
Special proteins that increase the rate of a reaction that occurs in the body.
A large leaf sized portion of cartilage in the larynx that functions to cover the airway entrance when an individual swallows, preventing food and liquids from entering the airway.
Epithelial lining fluid (ELF)
The fluid that lines the epithelial cells of the lungs. It contains surfactants and other proteins.
The act of breathing air out of the lungs or exhaling. The duration of expiration is shorter than inhalation, unless a pathologic condition exists.
Outside of or having no relation to the lungs or pulmonary system.
A state of exhaustion following mental or physical activity characterized by a decreased capacity for work and accompanied by weariness, sleepiness, or irritability.
The functional activity of alpha1-proteinase inhibitor is determined by its ability in vitro (in a test tube) to neutralize the enzymatic activity of neutrophil elastase, an enzyme in the lungs that digests protein and thus destroys the elasticity of the alveoli. Higher specific activity, therefore, indicates a higher ratio of functionally active alpha1-proteinase inhibitor to total protein and is thus indicative of greater purity.
The basic unit of heredity made of DNA that codes for a specific protein. Each gene occupies a specific location on a chromosome. Every individual has two genes for each protein in each cell in the body, one gene from the father and one gene from the mother. Hereditary traits are controlled by pairs of genes in the same position on a pair of chromosomes.
A laboratory test that looks at the DNA code for a specific trait or protein.
A non-lipid enveloped RNA virus transmitted by ingestion of fecally contaminated food or water. Infection often occurs in young adults and is followed by complete recovery. A vaccine is available to prevent HAV.
Hepatitis B Virus (HBV)
A double-stranded lipid enveloped DNA virus transmitted by blood or body fluids through sexual contact. Severe infection may lead to destruction of liver cells and cirrhosis. A vaccine is available to prevent HBV.
Hepatitis C Virus (HCV)
A lipid enveloped RNA virus that is transmitted by blood transfusion or by sharing needles with an infected individual. It is less commonly transmitted by sexual contact. The disease progresses to chronic hepatitis in most individuals and can lead to cirrhosis and cancer. There is no vaccination available to prevent HCV infection.
Each individual possesses a pair of alleles for each gene. One allele comes from the mother and one from the father. When the inherited alleles are not the same for a particular gene, they are called heterozygous. An individual that is heterozygous for a particular gene is termed a heterozygote or a carrier.
Human Immunodeficiency Virus; a lipid enveloped virus from the retrovirus family that causes acquired immunodeficiency syndrome (AIDS). The most common type of HIV is HIV-1.
Each individual possesses a pair of alleles for each gene. One allele comes from the mother and one from the father. When both inherited alleles are the same for a particular gene, they are called homozygous. An individual that is homozygous for a particular gene is termed a homozygote.
The yellowing of the skin and whites of the eyes by greater than normal amounts of bilirubin in the blood. Jaundice usually occurs because of a liver problem.
The organ of voice that connects the pharynx with the trachea. The larynx is also termed the "Adam’s apple" and is usually larger in men than in women. The larynx is composed of cartilage that is controlled or moved by various muscles.
Liver Function Tests (LFTs)
Tests that measure the level of various liver enzymes in the blood. Elevated liver enzymes may indicate liver damage. Specific LFTs are bilirubin, AST, ALT, LDH, and alkaline phosphatase.
A fairly well-defined part of an organ separated by boundaries. The right lung has 3 lobes. The left lung has 2 lobes.
A small lobe or a primary subdivision of a lobe.
A specific place, position, or site on a chromosome where the gene for a specific trait is located. Any one of the alleles of a gene may be present.
Lower Respiratory System
The portion of the respiratory system that includes the larynx, trachea, bronchi, and alveoli.
One of the two light, spongy organs contained within the chest, constituting the main organs in the respiratory system. The lungs are responsible for inhaling air to provide oxygen for the body, and for exhaling carbon dioxide. The right lung consists of three lobes and the left lung consists of two lobes (to make room for the heart on the left side of the body).
A form of filtration that uses a membrane to separate different fluids or ions.
The uppermost region of the throat, behind the nasal cavity.
A white blood cell (WBC) responsible for protecting the body from infection. Neutrophils are the most common type of WBC. These cells play a role in inflammation and destruction of foreign invading microorganisms.
An enzyme produced by neutrophils that destroys proteins such as elastin. It is necessary in inflammation and immune response, but can destroy normal tissues that are not protected.
Non-enveloped viral agents
A pathogen made of nucleic acid in a protein shell that infects a host cell. Once inside a host cell, the virus can grow and reproduce. A non-enveloped virus lacks an outer lipid layer that helps the virus hide from the immune system. Hepatitis A Virus (HAV) and Porcine Parvovirus (PRV) are non-enveloped viruses.
The projection in the center of the face that is the organ of smell and serves as a passageway for air to and from the lungs.
One of the three divisions of the pharynx extending from the soft palate and the upper portion of the epiglottis.
A colorless gas that is approximately 21% of the air we breathe at sea level. It energizes every cell of the body, is required for all organ functions, and is critical to the survival of all human beings.
Emphysema that affects the lower lobes of the lungs and is associated with alpha1- antitrypsin (AAT) deficiency.
An inflammatory reaction of the fat below the skin where the skin becomes hardened, discolored, painful, and can lead to scarring.
The passageway for air from the nasal cavity to the larynx and the passageway for food from the mouth to the esophagus.
The observable characteristics of an organism determined by genetic makeup and environmental factors. For example, the specific AAT protein found in the blood is determined by the AAT genes passed to the individual by the mother and father.
The process of testing for a specific characteristic, for example, determination of the type of AAT found in an individual’s blood.
Polyethylene glycol (PEG)
Polymer of ethylene oxide and water that is used during the purification process.
Porcine parvovirus (PPV)
A non-enveloped virus.
The process of separating a substance out of a solution by using a reagent. The use of a reagent helps a precipitate form, which is the desired substance.
Prevents an enzyme from splitting proteins.
An itching or tingling feeling in the skin that prompts a person to rub or scratch that area.
Pulmonary function tests (PFTs)
A group of tests used to assess the condition of the respiratory system. These tests measure the volume of air in the lungs, the flow of air in and out of the lungs and the ability of the lungs to supply oxygen to the body.
The process of isolating a product without any contaminants.
Part of the respiratory tract (alveoli) where the act of gas exchange occurs.