Sickle Cell Disease Glossary of Terms

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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.
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Abdominal: Relating to the 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.
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Abdominal pain: Pain in the belly (the abdomen). Abdominal pain can come from conditions affecting a variety of organs. The abdomen is an anatomical area that is bounded by the lower margin of the ribs above, the pelvic bone (pubic ramus) below, and the flanks on each side. Although abdominal pain can arise from the tissues of the abdominal wall that surround the abdominal cavity (the skin and abdominal wall muscles), the term abdominal pain generally is used to describe pain originating from organs within the abdominal cavity (from beneath the skin and muscles). These organs include the stomach, small intestine, colon, liver, gallbladder, and pancreas.
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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).

Acute: Of abrupt onset, in reference to a disease. Acute often also connotes an illness that is of short duration, rapidly progressive, and in need of urgent care.
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Anemia: The condition of having less than the normal number of red blood cells or less than the normal quantity of hemoglobin in the blood. The oxygen-carrying capacity of the blood is, therefore, decreased.
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Bacteria: Single-celled microorganisms which can exist either as independent (free-living) organisms or as parasites (dependent upon another organism for life).
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Bacterial: Of or pertaining to bacteria. For example, a bacterial lung infection.

Blood clots: Blood that has been converted from a liquid to a solid state. Also called a thrombus.
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Bone marrow: The soft blood-forming tissue that fills the cavities of bones and contains fat and immature and mature blood cells, including white blood cells, red blood cells, and platelets. Diseases or drugs that affect the bone marrow can affect the total counts of these cells.

Bone marrow transplantation: See: Bone marrow transplant.

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."

Capillaries: Capillaries are the smallest of blood vessels. They serve to distribute oxygenated blood from arteries to the tissues of the body and to feed deoxygenated blood from the tissues back into the veins. The capillaries are thus a central component in the circulatory system, essentially between the arteries and the veins. When pink areas of skin are compressed, this causes blanching because blood is pressed out of the capillaries. The blood is the fluid in the body that contains, among other elements, the red blood cells (erythrocytes) that carry the oxygen and give the blood its red color.

Carbon dioxide: A gas which is the byproduct of cellular metabolism and which collects in the tissues, is cleared from the tissues by the blood within the veins, is carried by the hemoglobin in the red blood cells, and removed from the body via the lungs in the exhaled air. Abbreviated CO2.

Cascade: A sequence of successive activation reactions involving enzymes (enzyme cascade) or hormones (hormone cascade) characterized by a series of amplifications of an initial stimulus. In blood coagulation, for example, each enzyme activates the next until the final product, the fibrin clot, is reached.

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.
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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.
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Chest pain: There are many causes of chest pain. One is angina which results from inadequate oxygen supply to the heart muscle. Angina can be caused by coronary artery disease or spasm of the coronary arteries. Chest pain can also be due to a heart attack (coronary occlusion) and other important diseases such as, for example, dissection of the aorta and a pulmonary embolism. Do not try to ignore chest pain and "work (or play) though it." Chest pain is a warning to seek medical attention.

Chronic: This important term in medicine comes from the Greek chronos, time and means lasting a long time.
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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.

CT scan: Computerized tomography scan. Pictures of structures within the body created by a computer that takes the data from multiple X-ray images and turns them into pictures on a screen. CT stands for computerized tomography.
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Cure: 1. To heal, to make well, to restore to good health. Cures are easy to claim and, all too often, difficult to confirm.
2. A time without recurrence of a disease so that the risk of recurrence is small, as in the 5-year cure rate for malignant melanoma.
3. Particularly in the past, a course of treatment. For example, take a cure at a spa.
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Dehydration: Excessive loss of body water. Diseases of the gastrointestinal tract that cause vomiting or diarrhea may, for example, lead to dehydration. There are a number of other causes of dehydration including heat exposure, prolonged vigorous exercise (e.g., in a marathon), kidney disease, and medications (diuretics).
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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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Diarrhea: A familiar phenomenon with unusually frequent or unusually liquid bowel movements, excessive watery evacuations of fecal material. The opposite of constipation. The word "diarrhea" with its odd spelling is a near steal from the Greek "diarrhoia" meaning "a flowing through." Plato and Aristotle may have had diarrhoia while today we have diarrhea. There are myriad infectious and noninfectious causes of diarrhea.
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Emergency department: The department of a hospital responsible for the provision of medical and surgical care to patients arriving at the hospital in need of immediate care. Emergency department personnel may also respond to certain situations within the hospital such cardiac arrests.
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Family history: The family structure and relationships within the family, including information about diseases in family members.
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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.
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Femur: The femur is the bone in the leg that extends from the hip to the knee.
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Fever: Although a fever technically is any body temperature above the normal of 98.6 degrees F. (37 degrees C.), in practice a person is usually not considered to have a significant fever until the temperature is above 100.4 degrees F (38 degrees C.).
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Flu: Short for influenza. The flu is caused by viruses that infect the respiratory tract which are divided into three types, designated A, B, and C. Most people who get the flu recover completely in 1 to 2 weeks, but some people develop serious and potentially life-threatening medical complications, such as pneumonia. Much of the illness and death caused by influenza can be prevented by annual influenza vaccination.

Gene: The basic biological unit of heredity. A segment of deoxyribonucleic acid (DNA) needed to contribute to a function.
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Genetic: Having to do with genes and genetic information.

Genetic counseling: An educational counseling process for individuals and families who have a genetic disease or who are at risk for such a disease. Genetic counseling is designed to provide patients and their families with information about their condition and help them make informed decisions.
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Hematologist: A physician who is specially trained in the diagnosis, treatment, and prevention of diseases of the blood and bone marrow as well as the immunologic, hemostatic (blood clotting) and vascular systems. Because of the nature of blood, the science of hematology profoundly affects the understanding of many diseases.

Hemoglobin: The oxygen-carrying pigment and predominant protein in the red blood cells. Hemoglobin forms an unstable, reversible bond with oxygen. In its oxygenated state it is called oxyhemoglobin and is bright red. In the reduced state it is called deoxyhemoglobin and is purple-blue.
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Hemoglobin S: The most common type of abnormal hemoglobin and the basis of sickle cell trait and sickle cell anemia.
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Humerus: The long bone in the arm which extends from the shoulder to the elbow.

Hypoxia: A subnormal concentration of oxygen. By contrast with normoxia (normal oxygen) and anoxia (the absence or near absence of oxygen). From hyp- (below) + -ox- (oxygen) + -ia.

Icterus: Jaundice. At least one medical dictionary defines icterus as the presence of jaundice seen in the sclera of the eye. This is incorrect. Icterus is synonymous with jaundice. They are one and the same thing.
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Immune: Protected against infection. The Latin immunis means free, exempt.

Immune system: A complex system that is responsible for distinguishing us from everything foreign to us, and for protecting us against infections and foreign substances. The immune system works to seek and kill invaders.
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Incidence: The frequency with which something, such as a disease, appears in a particular population or area. In disease epidemiology, the incidence is the number of newly diagnosed cases during a specific time period. The incidence is distinct from the prevalence which refers to the number of cases alive on a certain date.

Indicate: In medicine, to make a treatment or procedure advisable because of a particular condition or circumstance. For example, certain medications are indicated for the treatment of hypertension during pregnancy while others are contraindicated.

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.
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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.
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Kidney: One of a pair of organs located in the right and left side of the abdomen which clear "poisons" from the blood, regulate acid concentration and maintain water balance in the body by excreting urine. The kidneys are part of the urinary tract. The urine then passes through connecting tubes called "ureters" into the bladder. The bladder stores the urine until it is released during urination.

Leg: In popular usage, the leg extends from the top of the thigh down to the foot. However, in medical terminology, the leg refers to the portion of the lower extremity from the knee to the ankle.
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Lightheadedness: A feeling you are "going to faint." Lightheadedness is medically distinct from dizziness, unsteadiness, and vertigo. See: Dizziness, Unsteadiness, and Vertigo.

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.

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.

Marrow: The bone marrow.

Medical history: 1. In clinical medicine, the patient's past and present which may contain clues bearing on their health past, present, and future. The medical history, being an account of all medical events and problems a person has experienced, including psychiatric illness, is especially helpful when a differential diagnosis is needed.
2. The history of medicine.

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

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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Nausea: Nausea, is the urge to vomit. It can be brought by many causes including, systemic illnesses, such as influenza, medications, pain, and inner ear disease. When nausea and/or vomiting are persistent, or when they are accompanied by other severe symptoms such as abdominal pain, jaundice, fever, or bleeding, a physician should be consulted.

Neonatal: Pertaining to the newborn period which, by convention, is the first four weeks after birth.

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.

Outpatient: A patient who is not an inpatient (not hospitalized) but instead is cared for elsewhere -- as in a doctor's office, clinic, or day surgery center. The term outpatient dates back at least to 1715. Outpatient care today is also called ambulatory care.

Oxygen: A colorless, odorless and tasteless gas that makes up about 20% of the air we breathe (and at least half the weight of the entire solid crust of the earth) and which combines with most of the other elements to form oxides. Oxygen is essential to human, animal and plant life.
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Oxygenation: The addition of oxygen to any system, including the human body. Oxygenation may also refer to the process of treating a patient with oxygen, or of combining a medication or other substance with oxygen.
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Pain: An unpleasant sensation that can range from mild, localized discomfort to agony. Pain has both physical and emotional components. The physical part of pain results from nerve stimulation. Pain may be contained to a discrete area, as in an injury, or it can be more diffuse, as in disorders like fibromyalgia. Pain is mediated by specific nerve fibers that carry the pain impulses to the brain where their conscious appreciation may be modified by many factors.
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Palpitations: Unpleasant sensations of irregular and/or forceful beating of the heart. In some patients with palpitations, no heart disease or abnormal heart rhythms can be found. In others, palpitations result from abnormal heart rhythms (arrhythmias). Arrhythmias refer to heartbeats that are too slow, too rapid, irregular, or too early.

Penicillin: The most famous of all antibiotics, named for the fungal mold Penicillium notatum from which it is derived. Penicillin acts by destroying the cell wall of bacteria.
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Penis: The external male sex organ used to copulate and ejaculate semen and to convey urine outside the body.
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Pharmacy: A location where prescription drugs are sold. A pharmacy is, by law, constantly supervised by a licensed pharmacist.

Pneumonia: Inflammation of one or both lungs with consolidation. Pneumonia is frequently but not always due to infection. The infection may be bacterial, viral, fungal or parasitic. Symptoms may include fever, chills, cough with sputum production, chest pain, and shortness of breath.

Pregnancy: The state of carrying a developing embryo or fetus within the female body. This condition can be indicated by positive results on an over-the-counter urine test, and confirmed through a blood test, ultrasound, detection of fetal heartbeat, or an X-ray. Pregnancy lasts for about nine months, measured from the date of the woman's last menstrual period (LMP). It is conventionally divided into three trimesters, each roughly three months long.
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Priapism: Abnormally persistent erection of the penis in the absence of sexual desire. Priapism can occur in persons with sickle cell anemia.
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Range of motion: The range through which a joint can be moved, usually its range of flexion and extension. Due to an injury, the knee may for example lack 10 degrees of full extension.

Red blood cell: The blood cell that carries oxygen. Red cells contain hemoglobin and it is the hemoglobin which permits them to transport oxygen (and carbon dioxide). Hemoglobin, aside from being a transport molecule, is a pigment. It gives the cell its red color (and name).
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Red blood cells: The blood cells that carry oxygen. Red cells contain hemoglobin and it is the hemoglobin which permits them to transport oxygen (and carbon dioxide). Hemoglobin, aside from being a transport molecule, is a pigment. It gives the cells their red color (and their name).
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Red cells: Short for red blood cells, the oxygen/carbon dioxide carrying cells in blood. Also known acronymically as RBC's, red corpuscles or erythrocytes (literally, red hollow vessels).

Rehydration: The process of restoring lost water to the body tissues and fluids. Prompt rehydration is imperative whenever dehydration occurs, from diarrhea, exposure, lack of drinking water, or medication use. Rehydration can be by the oral route or by the intravenous administration of fluids.

Relapse: The return of signs and symptoms of a disease after a patient has enjoyed a remission. For example, after treatment a patient with cancer of the colon went into remission with no sign or symptom of the tumor, remained in remission for 4 years, but then suffered a relapse and had to be treated once again for colon cancer.
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Retina: The retina is the nerve layer that lines the back of the eye, senses light, and creates impulses that travel through the optic nerve to the brain. There is a small area, called the macula, in the retina that contains special light-sensitive cells. The macula allows us to see fine details clearly.
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Retinal: Pertaining to the retina, the extraordinary layer of neurons (nerve cells) that line the back of the eye, which can sense light and create impulses capable of voyaging through the optic nerve to the brain where the impulses are recognized as an image.
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Retinal detachment: A separation of the retina from its connection at the back of the eye. The separation usually results from a tear (that is, a rent or rip, not a tear drop) in the retina. The tear often occurs when the vitreous gel pulls loose or separates from its attachment to the retina, usually in the outside edges of the eye. The vitreous is a clear gel that fills most of the inside of the eye between the retina and the lens. If the retina is weak when the vitreous gel pulls loose, the retina will tear. This rip is sometimes accompanied by bleeding, or hemorrhage, if a blood vessel is also torn.
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Retinopathy: Any disease of the retina, the light-sensitive membrane at the back of the eye. The type of retinopathy is often specified. Arteriosclerotic retinopathy is retinal disease due to arteriosclerosis ("hardening of the arteries"). Diabetic retinopathy is retinal disease associated with diabetes. Hypertensive retinopathy is retinal disease due to high blood pressure. Etc.

Salmonella: A group of bacteria that cause typhoid fever and a number of other illnesses, including food poisoning, gastroenteritis and enteric fever from contaminated food products.
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Scan: As a noun, the data or image obtained from the examination of organs or regions of the body by gathering information with a sensing device.
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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.

Sickle cell anemia: A genetic blood disease due to the presence of an abnormal form of hemoglobin, namely hemoglobin S. Hemoglobin is the molecule in red blood cells that transports oxygen from the lungs to the farthest areas of the body.
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Sickle cell disease: A genetic blood disorder caused by the presence of an abnormal form of hemoglobin. These hemoglobin molecules tend to aggregate after unloading oxygen forming long, rod-like strictures that force the red cells to assume a sickle shape. Unlike normal red cells, which are usually smooth and malleable, the sickle red cells cannot squeeze through small blood vessels. When the sickle cells block small blood vessels, the organs are deprived of blood and oxygen. This leads to periodic episodes of pain and damages the vital organs. Sickle red cells die after only about 10 to 20 days. Instead of the usual 120 days or so. Because they cannot be replaced fast enough, the blood is chronically short of red cells, causing anemia. The gene for sickle cell anemia must be inherited from both parents for the illness to occur in children. A child with only one copy of the gene may have sickle-cell traits but no symptoms of illness.
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Spinal tap: Also known as a lumbar puncture or "LP", a spinal tap is a procedure whereby spinal fluid is removed from the spinal canal for the purpose of diagnostic testing. It is particularly helpful in the diagnosis of inflammatory diseases of the central nervous system, especially infections, such as meningitis. It can also provide clues to the diagnosis of stroke, spinal cord tumor and cancer in the central nervous system.
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Spleen: An organ located in the upper left part of the abdomen near the stomach. The spleen produces lymphocytes; it is the largest lymphatic organ in the body. The spleen also filters the blood, serves as a major reservoir for blood and destroys blood cells that are aged.

Stress: Forces from the outside world impinging on the individual. Stress is a normal part of life that can help us learn and grow. Conversely, stress can cause us significant problems.
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Stroke: The sudden death of some brain cells due to a lack of oxygen when the blood flow to the brain is impaired by blockage or rupture of an artery to the brain. A stroke is also called a cerebrovascular accident or, for short, a CVA.
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Subacute: Rather recent onset or somewhat rapid change. The term "subacute" is used in contrast to acute which indicates very sudden onset or rapid change and chronic which indicates indefinite duration or virtually no change. A chronic condition is one lasting 3 months or more, by the definition of the U.S. National Center for Health Statistics. In ancient Greece, the "father of medicine" Hippocrates distinguished diseases that were acute (abrupt, sharp and brief) from those that were chronic. This is still a very useful distinction. Subacute has been coined to designate the mid-ground between acute and chronic.

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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Therapy: The treatment of disease.
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Tibia: The larger of the two bones in the leg (the smaller one being the fibula). The tibia is familiarly known as the shinbone.
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Transfusion: The transfer of blood or blood products from one person (the donor) into another person (the recipient's) bloodstream. In most situations, this is done as a lifesaving maneuver to replace blood cells or blood products lost through severe bleeding. Transfusion of your own blood (autologous) is the safest method but requires planning ahead and not all patients are eligible. Directed donor blood allows the patient to receive blood from known donors. Volunteer donor blood is usually most readily available and, when properly tested has a low incidence of adverse events.
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Urine: Liquid waste. The urine is a clear, transparent fluid. It normally has an amber color. The average amount of urine excreted in 24 hours is from 40 to 60 ounces (about 1,200 cubic centimeters). Chemically, the urine is mainly an aqueous (watery) solution of salt (sodium chloride) and substances called urea and uric acid. Normally, it contains about 960 parts of water to 40 parts of solid matter. Abnormally, it may contain sugar (in diabetes), albumen (a protein) (as in some forms of kidney disease), bile pigments (as in jaundice), or abnormal quantities of one or another of its normal components.

Viruses: Small living particles that can infect cells and change how the cells function. Infection with a virus can cause a person to develop symptoms. The disease and symptoms that are caused depend on the type of virus and the type of cells that are infected.