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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Alpha thalassemia: A blood disorder, thalassemia is not one disease but rather a group of disorders that have a single feature in common: they all have a genetic defect in the production of hemoglobin, the protein that enables red blood cells to carry oxygen.
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Amniotic fluid: The fluid bathing the fetus and serving as a shock absorber.
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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Blood count: The calculated number of white or red blood cells (WBCs or RBCs) in a cubic millimeter of blood.
Blood transfusion : The transfer of blood or blood components from one person (the donor) into the bloodstream of another person (the recipient). This may be done as a lifesaving maneuver to replace blood cells or blood products lost through bleeding. Transfusion of your own blood (autologous) is the safest method but requires advance planning 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. Blood conserving techniques are an important aspect of limiting transfusion requirements.
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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.
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.
CBC: A commonly used abbreviation in medicine that stands for complete blood count , a set values of the cellular (formed elements) of blood. These measurements are generally determined by specially designed machines that analyze the different components of blood in less than a minute.
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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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Chromosome: A visible carrier of the genetic information.
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Complete blood count : A set values of the cellular (formed elements) of blood. These measurements are generally determined by specially designed machines that analyze the different components of blood in less than a minute.
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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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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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Donor: The giver of a tissue or organ, for example, of blood or a kidney.
Embryo: The organism in the early stages of growth and differentiation from fertilization to, in humans, the beginning of the third month of pregnancy . After that point in time, it is termed a fetus.
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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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Father: (1) The male parent. (2) One who originates. For example, "Wilhelm Roentgen is considered the father of radiology." (3) To produce offspring as a male. (4) To provide paternal protection and guidance to children.
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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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.
Folic acid: One of the B vitamins that is a key factor in the synthesis (the making) of nucleic acid (DNA and RNA).
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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.
Genetic counselor: A health professional with a specialized graduate degree and experience in the areas of medical genetics and counseling.
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Headache : A pain in the head with the pain being above the eyes or the ears, behind the head (occipital), or in the back of the upper neck. Headache, like chest pain or back ache, has many causes.
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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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Heart attack: The death of heart muscle due to the loss of blood supply. The loss of blood supply is usually caused by a complete blockage of a coronary artery, one of the arteries that supplies blood to the heart muscle. Death of the heart muscle, in turn, causes chest pain and electrical instability of the heart muscle tissue.
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Heart disease: Any disorder that affects the heart. Sometimes the term "heart disease" is used narrowly and incorrectly as a synonym for coronary artery disease. Heart disease is synonymous with cardiac disease but not with cardiovascular disease which is any disease of the heart or blood vessels. Among the many types of heart disease, see, for example: Angina; Arrhythmia; Congenital heart disease; Coronary artery disease (CAD); Dilated cardiomyopathy; Heart attack (myocardial infarction); Heart failure; Hypertrophic cardiomyopathy; Mitral regurgitation; Mitral valve prolapse; and Pulmonary stenosis.
Heart failure : Inability of the heart to keep up with the demands on it and, specifically, failure of the heart to pump blood with normal efficiency. When this occurs, the heart is unable to provide adequate blood flow to other organs such as the brain, liver and kidneys. Heart failure may be due to failure of the right or left or both ventricles. The signs and symptoms depend upon which side of the heart is failing. They can include shortness of breath (dyspnea), asthma due to the heart (cardiac asthma), pooling of blood (stasis) in the general body (systemic) circulation or in the liver's (portal) circulation, swelling ( edema ), blueness or duskiness (cyanosis), and enlargement (hypertrophy) of the heart.
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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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Hepatitis: Inflammation of the liver from any cause.
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Hepatitis B: Inflammation of the liver due to the hepatitis B virus (HBV), once thought to be passed only through blood products. It is now known that hepatitis B can also be transmitted via needle sticks, body piercing and tattooing using un sterilized instruments, the dialysis process, sexual and even less intimate close contact, and childbirth. Symptoms include fatigue, jaundice , nausea, vomiting, dark urine, light stools. Diagnosis is by blood test. Treatment is via anti-viral drugs and/or hepatitis B immunoglobulin (HBIG).
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Hepatitis C: Inflammation of the liver due to the hepatitis C virus (HCV), which is usually spread by blood transfusion, hemodialysis, and needle sticks. HCV causes most transfusion-associated hepatitis, and the damage it does to the liver can lead to cirrhosis and cancer. Transmission of the virus by sexual contact is rare. At least half of HCV patients develop chronic hepatitis C infection. Diagnosis is by blood test. Treatment is via anti-viral drugs. Chronic hepatitis C may be treated with interferon, sometimes in combination with anti-virals. There is no vaccine for hepatitis C. Previously known as non-A, non-B hepatitis.
HIV: Acronym for the Human Immunodeficiency Virus , the cause of AIDS (acquired immunodeficiency syndrome). HIV has also been called the human lymphotropic virus type III, the lymphadenopathy-associated virus and the lymphadenopathy virus . No matter what name is applied, it is a retrovirus. (A retrovirus has an RNA genome and a reverse transcriptase enzyme. Using the reverse transcriptase , the virus uses its RNA as a template for making complementary DNA which can integrate into the DNA of the host organism).
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Hydrops fetalis: Gross edema (swelling), usually with anemia, of the fetus. It can be due to Rh blood group incompatibility, in which antibodies crossing the placenta from the mother destroy the red blood cells of the fetus. It can also be caused by a lethal form of the genetic disorder thalassemia, alpha thalassemia, in which alpha-chain polypeptides needed to make fetal or adult hemoglobin are not produced. See also Rh incompatibility; thalassemia, alpha.
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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Inheritance: Not something that is contained in a will, but rather a gene, chromosome or genome that is transmitted from parent to child.
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Iron: An essential mineral. Iron is necessary for the transport of oxygen (via hemoglobin in red blood cells) and for oxidation by cells (via cytochrome). Deficiency of iron is a common cause of anemia. Food sources of iron include meat, poultry, eggs, vegetables and cereals (especially those fortified with iron). According to the National Academy of Sciences, the Recommended Dietary Allowances of iron are 15 milligrams per day for women and 10 milligrams per day for men. Iron overload can damage the heart, liver, gonads and other organs. Iron overload is a particular risk in people who may have certain genetic conditions (hemochromatosis) sometimes without knowing it and also in people receiving recurrent blood transfusions. Iron supplements meant for adults (such as pregnant women) are a major cause of poisoning in children.
Iron overload: Iron overload can damage the heart, liver, gonads and other organs.
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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.
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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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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.
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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.
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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.
Mediterranean anemia: Better known today as thalassemia (or as beta thalassemia or thalassemia major).
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Meningitis: Inflammation of the meninges, usually due to a bacterial infection but sometimes from viral, protozoan, or other causes (in some cases the cause cannot be determined).
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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.
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.
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.
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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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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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Placenta: A temporary organ joining the mother and fetus, the placenta transfers oxygen and nutrients from the mother to the fetus, and permits the release of carbon dioxide and waste products from the fetus. It is roughly disk-shaped, and at full term measures about seven inches in diameter and a bit less than two inches thick. The upper surface of the placenta is smooth, while the under surface is rough. The placenta is rich in blood vessels.
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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.
Prenatal: Occurring or existing before birth.
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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.
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Puberty: A complex biologic and psychologic process involving sexual development, accelerated growth, and adrenal maturation heralded by the secretion of gonadotropin releasing hormone (GnRH) from a part of the brain called the hypothalamus . This event is the first known step in the reproductive cascade. It initiates the pulsatile release of gonadotropins , gonadal secretion of sex steroids, pubertal development, and gametogenesis (the production of sperm and ova ).
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Quality of life: An important consideration in medical care, quality of life refers to the patient's ability to enjoy normal life activities. Some medical treatments can seriously impair quality of life without providing appreciable benefit, while others greatly enhance quality of life.
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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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.
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Stem cell: One of the human body's master cells, with the ability to grow into any one of the body's more than 200 cell types.
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Stomach: 1. The sac-shaped digestive organ that is located in the upper abdomen, under the ribs. The upper part of the stomach connects to the esophagus, and the lower part leads into the small intestine.
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Thalassemia: Not just one disease but rather a complex series of genetic (inherited) disorders all of which involve underproduction of hemoglobin, the indispensable molecule in red blood cells that carries oxygen. The globin part of hemoglobin is made up of 4 polypeptide chains (usually 2 chains of one type and 2 chains of another type of chain). In thalassemia, there is a mutation (change) in one of the types of globin chains. Depending upon which globin chain is affected, the mutation typically leads to underproduction (or absence) of that globin chain, a deficiency of hemoglobin, and anemia.
Thalassemia major: The dire disease also known as beta thalassemia. The clinical picture of this form of anemia was first described in 1925 by the pediatrician Thomas Benton Cooley. Other names for the disease are Cooley's anemia and Mediterranean anemia. The term thalassemia was coined by the Nobel Prize winning pathologist George Whipple and the professor of pediatrics William Bradford at U. of Rochester because thalassa in Greek means the sea (like the Mediterranean Sea) + -emia means in the blood so thalassemia means sea in the blood. Thalassemia is not just one disease. It is a complex contingent of genetic (inherited) disorders all of which involve underproduction of hemoglobin, the indispensable molecule in red blood cells that carries oxygen. The globin part of normal adult hemoglobin is made up of 2 alpha and 2 beta polypeptide chains. In beta thalassemia, there is a mutation (change) in both beta globin chains leading to underproduction (or absence) of beta chains, underproduction of hemoglobin, and profound anemia. The gene for beta thalassemia is relatively frequent in people of Mediterranean origin (for example, from Italy and Greece). Children with this disease inherit one gene for it from each parent (and so are said to be homozygous for beta thalassemia). The parents are carriers (heterozygotes) with just one thalassemia gene, are said to have thalassemia minor, and are essentially normal. Their children affected with beta thalassemia seem entirely normal at birth (because at birth we still have predominantly fetal hemoglobin which does not contain beta chains) but the anemia emerges in the first few months of life and becomes progressively more severe leading to pallor and easy fatiguability, failure to thrive (grow), bouts of fever (due to infections) and diarrhea. Treatment based on blood transfusions is helpful but not curative. Gene therapy will, it is hoped, be applicable to this disease.
Thalassemia minor: Also called thalassemia trait, thalassemia minor is the carrier state for beta thalassemia. People who are carriers (heterozygotes) have just one thalassemia gene, are said to have thalassemia minor, and are essentially normal
Therapy: The treatment of disease .
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Tired: A feeling of a lessened capacity for work and reduced efficiency of accomplishment, usually accompanied by a sense of weariness and fatigue.
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Tiredness: See: Tired.
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.
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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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Transplant: The grafting of a tissue from one place to another, just as in botany a bud from one plant might be grafted onto the stem of another. The transplanting of tissue can be from one part of the patient to another (autologous transplantation), as in the case of a skin graft using the patient's own skin; or from one patient to another (allogenic transplantation), as in the case of transplanting a donor kidney into a recipient.
Trigger: Something that either sets off a disease in people who are genetically predisposed to developing the disease, or that causes a certain symptom to occur in a person who has a disease. For example, sunlight can trigger rashes in people with lupus.
Umbilical cord: The cord that connects the developing embryo or fetus with the placenta and through which run the umbilical arteries and vein. The matrix (the substance) of the umbilical cord is known as Wharton's jelly and is a rich source of stem cells. At birth the umbilical cord measures about 20 inches (50 cm) in length. The cord is clamped and cut after birth and its residual tip forms the umbilicus (bellybutton).
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.
Vaccines: Microbial preparations of killed or modified microorganisms that can stimulate an immune response in the body to prevent future infection with similar microorganisms. These preparations are usually delivered by injection.
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Vein: A blood vessel that carries blood low in oxygen content from the body back to the heart. The deoxygenated form of hemoglobin (deoxyhemoglobin) in venous blood makes it appear dark. Veins are part of the afferent wing of the circulatory system which returns blood to the heart.
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Viral: Of or pertaining to a virus. For example, "My daughter has a viral rash ."
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Viral infection: Infection caused by the presence of a virus in the body. Depending on the virus and the person's state of health, various viruses can infect almost any type of body tissue, from the brain to the skin. Viral infections cannot be treated with antibiotics; in fact, in some cases the use of antibiotics makes the infection worse. The vast majority of human viral infections can be effectively fought by the body's own immune system , with a little help in the form of proper diet, hydration, and rest. As for the rest, treatment depends on the type and location of the virus, and may include anti-viral or other drugs.
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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.
Womb: The womb (uterus) is a hollow, pear-shaped organ located in a woman's lower abdomen between the bladder and the rectum. The narrow, lower portion of the uterus is the cervix; the broader, upper part is the corpus. The corpus is made up of two layers of tissue.
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