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Cystic Fibrosis

In this section, you or a loved one can find out more about medical treatments and practical information for cystic fibrosis. Read on to find answers to some of your questions as well as links to other information. Being informed is an important first step toward becoming an active decision-maker in your care plan.

WHAT IS CYSTIC FIBROSIS?

Cystic fibrosis is an inherited disease that causes blockage of tubes or passageways in several organs, especially the lungs and digestive system.

Cystic fibrosis affects the Cells that keep mucus and digestive juices thin and slippery. People with cystic fibrosis have defective Genes that cause secretions to become thick and sticky. Instead of acting as a lubricant, the secretions plug up tubes, ducts and passageways in the lungs, sinuses, pancreas, liver, intestines and reproductive system. The two major consequences in most people with cystic fibrosis are poor digestion and worsening lung disease over time. The symptoms and severity of cystic fibrosis can vary widely from person to person.

WHAT CAUSES CYSTIC FIBROSIS?

Tiny channels located in the surface of many Cells keep a healthy balance of salt and water across membranes in the body. These channels are called CFTR, which is short for cystic fibrosis transmembrane conductance regulator. In order to have cystic fibrosis, a person must have two defective CFTR Genes (one from each parent) that result in the absence or poor function of the CFTR channels, leading to dehydration of secretions and high salt levels in sweat. In the lungs, thick, sticky mucus clogs the airways and traps germs, which leads to repeated Infections, extensive lung damage and eventually, respiratory failure. Blockage of the ducts in the pancreas by mucus prevents the release of digestive Enzymes to the intestines that allow the body to break down food and absorb vital nutrients, which results in poor nutrition if untreated. The Enzymes that are retained cause damage to the pancreas itself.

How Common Is Cystic Fibrosis?

Cystic fibrosis is relatively uncommon, affecting about 30,000 people in the United States and >75,000 people worldwide. In the past, cystic fibrosis was considered a childhood disease, but with centralized care and improved survival, there are as many adults with cystic fibrosis as there are children. It is most common in Caucasians, although it can be found in every race. It is seen more in North America, Western Europe and Australia, and seen infrequently in Asia or Africa.

HOW DOES ONE TEST FOR CYSTIC FIBROSIS?

A variety of tests are used to diagnose cystic fibrosis.

  • Newborn Screening test: A blood test is carried out to find out whether a newborn has cystic fibrosis. A positive blood screen is then followed by other tests that confirm the diagnosis. In recent years, newborn Screening has become standard in most countries where cystic fibrosis is more common.

  • Sweat test: In the past, sweat testing plus the presence of symptoms or family history was the primary method of diagnosis. This test measures the amount of salt in the sweat. Sweat is collected from the person's forearm and the chloride levels are measured. High salt levels confirm the diagnosis of cystic fibrosis. Sweat tests should be done only in labs that perform the test routinely and according to standard guidelines.

  • Gene testing: Either blood or Cells from a cheek swab can be tested for mutations in the CFTR Gene. There are over 2,000 identified CFTR mutations, but most of them are extremely rare. Gene panels that test for the most common 20-50 mutations are relatively fast and inexpensive. If there is any doubt about a diagnosis, Gene sequencing can be performed.

HOW DOES CYSTIC FIBROSIS AFFECT THE BODY?

Cystic fibrosis can affect many parts of the body, including the lungs, pancreas, liver, intestines, sinuses, reproductive system and sweat glands. Cystic fibrosis is a complex disease and the types and severity of symptoms can differ widely from person to person. Many different factors including age, gender, Gene type and environment can affect an individual's health and the course of the disease.

  • Lungs: The lungs are commonly affected in cystic fibrosis. The thick, dehydrated mucus in the airways obstruct the passages and create a place for germs to grow and cause Infection. These recurrent Infections are associated with high levels of inflammation, which cause progressive damage to the airways, called bronchiectasis. Symptoms include cough, production of sputum, wheezing, chest pain or tightness and shortness of breath. Complications in a small number of adolescents and adults include coughing up blood (hemoptysis) and pneumothorax (abnormal collection of air between the lung and inside chest wall, due to popping of a lung bleb). Over time, cystic fibrosis can damage lungs to the point that they no longer function. It eventually can become life-threatening, with some people choosing to get a lung transplant.

  • Sinuses: The sinuses, like the lungs, become filled with thick mucus in people with CF, trapping germs and causing inflammation and sinus Infections. Nasal inflammation can lead to fleshy growths called polyps in the nose. Symptoms include headache, nasal congestion and snoring.

  • Pancreas: The normal pancreas secretes into the small intestine digestive Enzymes and juices that are necessary to break down food. In cystic fibrosis, the ducts of the pancreas are blocked by thick mucus, which blocks the pancreatic ducts, causing damage and scarring. Since digestive Enzymes and juices rich in bicarbonate are unable to reach the intestine, the absorption of fat, nutrients and vitamins is significantly diminished. Resulting symptoms can include poor growth, inability to gain weight, malnutrition, bloating, excessive gas and large, foul-smelling, oily stools.

  • Cystic fibrosis-related Diabetes (CFRD): Insulin is a hormone that controls blood sugar. It is released by Cells in the pancreas that are different from those that make digestive Enzymes. In some people with cystic fibrosis, damage to the pancreas from digestive Enzymes may affect the insulin-secreting Cells too. This will decrease the secretion of insulin, causing a form of Diabetes. The chances of getting CFRD increases with age.

  • Digestive tract: Abnormally thick mucus and stool can occasionally cause blockages in the intestine, usually where the small and large intestines meet. This is called meconium ileus in a newborn, or distal intestinal obstruction syndrome (DIOS) in an older child or adult. Symptoms include severe constipation, bloating, and belly pain. If the stool cannot be flushed out, surgery is sometimes necessary to relieve the obstruction.

  • Liver: In the liver, Bile juice is produced that is then stored in the gallbladder. Bile helps break down fat in the diet. Bile travels through small tubes from the liver and gallbladder to the small intestine. If those tubes become blocked and inflamed due to thick mucus, liver Cells can be damaged and stones called gallstones may form in the gallbladder. Liver damage can often be detected by routine blood tests, and only in rare cases does Cirrhosis (severe scarring of the liver) occur.

  • Reproductive tract: Almost all men with cystic fibrosis are infertile because the tube that connects the testes and prostate gland (vas deferens) is missing. Certain fertility treatments and surgical procedures sometimes make it possible for men with cystic fibrosis to become fathers. Women with cystic fibrosis may be less fertile than other women because of thicker mucus blocking the cervix, but it's possible for them to conceive and have successful pregnancies. Still, pregnancy can worsen the signs and symptoms of cystic fibrosis, so be sure to discuss the possible risks with your cystic fibrosis healthcare team. Cystic fibrosis does not affect sexual development or the ability to have sex in either men or women.

  • Sweat glands: The absence of functioning CFTR channels in the sweat glands leads to sweat that is very salty. Before newborn Screening was widely available, infants were sometimes brought to medical attention because they tasted salty when kissed. Normally, salty sweat is not dangerous, but in situations when heavy sweating can be expected (Exercise, hot weather), it is crucial to stay well hydrated by drinking extra water, possibly supplemented with electrolytes (such as Gatorade).

Bone complications

  • Thinning of the bones (Osteoporosis): People with cystic fibrosis are at higher risk of developing a dangerous thinning of bones as they age.

  • Clubbing of the fingers or toes: The tips of the fingers and toes may widen and get thicker. This finding is more common with worsening disease. Severe Swelling of knee and ankle Joints is less common and may be related to increased inflammation in the body from lung disease.

LIFESTYLE OPTIONS

For most people, regardless of having cystic fibrosis or not, Exercise, healthy eating and good sleep habits are recommended. A healthy lifestyle can lead to enhanced quality of life for most people. Talk to your doctor before making any lifestyle changes.

Immunizations

People with cystic fibrosis should have the annual influenza Vaccine. Cystic fibrosis doesn't affect the Immune system, but children with cystic fibrosis are more likely to develop complications when they become sick.

Exercise

Regular Exercise helps keep the airways clear and promotes good lung, body and mental health.

Eliminate smoke

Cystic fibrosis patients should not smoke and they should not allow other people to smoke around them. Secondhand smoke is especially harmful for people with cystic fibrosis.

Wash hands

Hand-washing is a good way to protect against Infection.

MEDICAL TREATMENT

Current therapies for cystic fibrosis can be broadly classified into two categories: 1. Those that treat the symptoms and try to prevent disease progression, and 2. Newer medicines that target the cause of cystic fibrosis, namely absent or CFTR channels that do not work properly.

Symptom type and severity can differ widely from person to person. Therefore, treatment plans are usually tailored to each individual's unique circumstances. It is important for people with cystic fibrosis to receive care from a medical team that specializes in the disease and that will work closely with their personal physician. Specialized teams include physicians, nurses, dietitians/nutritionists, respiratory physical therapists and social/mental health workers who understand the complex patient needs and work closely with patients and families to create individualized treatment plans.

Treatments for symptoms and to delay progression

Each day, people with cystic fibrosis complete a combination of the following therapies:

Treatment for lung problems

  • Airway clearance to help loosen and get rid of the thick mucus that can build up in the lungs. Some airway clearance techniques require help from family members, friends, or respiratory physical therapists. Many people with cystic fibrosis use an inflatable vest that thumps the chest at a high frequency to help loosen mucus. Vigorous Exercise also helps keep airways clear.

  • Medicines: Doctors may prescribe bronchodilators, mucolytics (medications that break up or thin mucus), anti-inflammatory medicines or Antibiotics. These medicines help open up the airways and thin and clear the mucus, reduce airway Swelling and treat or prevent airway Infections. These medicines may be inhaled or taken orally. Inhaled medicines are liquid or dry-powder medicines that are inhaled by means of a nebulizer or inhaler. Using inhaled therapies can take a lot of time, so it is important to discuss with your healthcare team any difficulties you have in using the treatments consistently.

Treatment for digestive problems

  • Nutrition therapy: This includes a well-balanced diet that is rich in calories, fat and proteins. Nutrition will help to improve strength, growth and development and immunity to resist lung Infection.

  • Oral pancreatic Enzymes help of the body absorb important nutrients, fats, proteins and vitamins. They must be taken with every meal and with most snacks.

  • Supplements of vitamins A, D, E and K replace certain vitamins that the intestines can't absorb well.

  • High-calorie nutritional supplements can be taken either by mouth or through a tube inserted into the stomach.

  • Medicines that reduce stomach acid may help the Enzymes that break down food work better.

Medications that treat the cause of cystic fibrosis (CFTR dysfunction)

In recent years, scientists have learned more about the cause of cystic fibrosis and how Genetic changes (called mutations) in the CFTR channel affect its function. The hundreds of different mutations in the CFTR channel can be classified into two groups: 1. Those that result in reduced or no CFTR in the cell membrane, and 2. Those that have CFTR present in the membrane but do not allow salt to pass through (like a closed gate).

Two therapies have been approved for individuals with specific CFTR mutations.

Please be sure to consult with your physician.

HOW IS THE PROGRESSION OF CYSTIC FIBROSIS MONITORED?

Newborn infants with cystic fibrosis and their families must visit a cystic fibrosis center frequently to make sure that the baby is growing and gaining enough weight, to watch for early lung problems, and to become educated about the condition, what to expect, and what the treatment will be like as the child grows. The adjustment of having a child with a Chronic illness is discussed with the family, and the care team looks for signs of anxiety or Depression in the patients and family members. Older children and adults visit the cystic fibrosis center every 3 months or so.

Various tests are performed routinely to monitor the child's health. Chest x-rays (or CT scans) are done to look at the lung structure and to monitor for airway obstruction or damage. Lung function tests usually can be started when the child is 5 years old. These tests are performed often, because loss of lung function does not always result in symptoms. Also, Tissue samples from the respiratory tract (usually a throat swab or sputum) are taken to look for germs that are known to be harmful to the lungs, so that more aggressive treatment can be started. Finally, blood tests are done to check a variety of things such as level of inflammation, liver, and kidney function.

Over time, teams that care for patients with cystic fibrosis have become much more aggressive in not only managing complications of the disease, but also in trying to prevent the progression toward respiratory failure. Health trends have improved as a result, and there is a very full pipeline of new treatments being tested that eventually may be life-changers for people with cystic fibrosis.

 

Source: Cystic Fibrosis Foundation - www.cff.org

A localized collection of pus surrounded by inflamed tissue.
A disorder of the skin caused by inflammation of the skin glands and hair follicles; specifically, a form found mainly in adolescents and marked by pimples especially on the face.
A research study that compares the investigational drug or treatment to standard-of-care therapy (compared to placebo).
AIDS (acquired immunodeficiency syndrome) is the most advanced stage of infection with human immunodeficiency virus (HIV). HIV/AIDs can be spread through unprotected sex with an infected person or by sharing drug needles or through contact with the blood of an infected person.
A surgical connection made between two structures (usually tubular ones) such as blood vessels or loops of the bowel.
Male hormones used to control the production of estrogen.
A type of arthritis of the spine that causes inflammation between the vertebrae (bones that make up the spine) and in the joints between the spine and pelvis. In some people, ankylosing spondylitis can affect other joints.
Chemical substances that stop the growth of or kill bacteria, parasites and fungus. Antibiotics do not treat viral infections – antiviral drugs may treat some viruses.
Medications that block cholinergic neurotransmitter systems.
Apocrine glands are special sweat glands found in hairy areas of the body such as the armpits and groin.
The practice of using essential oils (generally plant-based) to improve health or a person’s mood.
The use of art that helps people manage physical and emotional problems by expressing themselves creatively.
A condition that causes pain and inflammation within a joint.
A rare childhood disease that affects the brain as well as other parts of the body.
Ophthalmic atropine may be used before eye examinations to dilate (open) the pupil (the black part of the eye). This medication can also be used to relieve pain caused by swelling and inflammation of the eye.
An illness that occurs when the body tissues are attacked by its own immune system. The immune system is designed to “seek and destroy” disease in the body, including infectious agents. Patients with autoimmune diseases frequently have unusual antibodies circulating in their blood that target their own body tissues.
In a a trial protocol, an explanation of what is known so far about the medical product being studied.
Relating to or caused by bacteria. Often used to describe the origin of an infection.
A disease involving inflammation of the blood vessels; it may affect many parts of the body.
An antibacterial ingredient often used in acne medications. It is a flammable white granular solid used as a bleaching agent for flour, fats, waxes and oils, and in pharmaceuticals.
When a point of view prevents objective judgment on issues relating to the patient. In clinical studies, bias is controlled through blinding and randomization.
A yellow or greenish liquid made by the liver that helps the body digest fats.
Therapy involving natural or manufactured substances that change the way cells behave. Biological therapies can cause certain cells to stop growing, block the release of hormones or strengthen the body’s immune system.
The removal of samples of tissue, cells or fluids from the living body. Biopsies can be taken using a biopsy instrument that is passed through the skin or through an endoscope into the organ in question, or is collect by open surgery. A trained specialist (pathologist) examines the tissue under a microscope to establish a precise diagnosis such as cancer.
A clinical trial is called blinded or “masked” when patients don’t know whether they are in the experimental or control arm of the study.
An anticoagulant agent used to prevent blood clots. In heart or blood vessel disease, or poor blood flow to your brain, doctors may recommend a blood thinner. Blood thinners can decrease the risk of heart attack and stroke by reducing the formation of blood clots in arteries and veins.
A localized swelling and inflammation of the skin usually resulting from bacterial infection of a hair follicle and adjacent tissue, having a hard central core, and forming pus.
A bone scan is a procedure that checks for abnormal areas or damage in the bones. Prior to the scan, a very small amount of radioactive material is injected into a vein. This collects in the bones and is detected by a scanner (a special camera that takes pictures of the inside of the body).
Another name for the intestines: the small bowel (duodenum, jejunum and ileum), and the large bowel (colon and rectum).
BRCA 1 is a gene on the human chromosome 17 and BRCA 2 is a gene on chromosome 13. These genes normally help to control cell growth. A person who inherits certain mutations (changes) in one or both of these genes has a higher risk of getting breast, ovarian, prostate, and other types of cancer.
Medication used to block an enzyme responsible for breaking down levodopa before it reaches the brain; carbidopa is always given in combination with levodopa
A cancer that starts in the skin or in tissues that line or cover internal organs.
A strong but flexible, somewhat elastic tissue found in some parts of the body (such as the nose, the outer ear, and some joints).
A clouding of the lens in the eye which may affect vision. Cataracts commonly occur in older people.
A non-steroidal anti-inflammatory drug (NSAID) used to relieve pain, tenderness, swelling and stiffness associated with osteoarthritis (arthritis due to a breakdown of the lining of the joints), rheumatoid arthritis, and ankylosing spondylitis.
The basic building blocks of the body's tissues. The human body is made up of many different types of cells. Human cells vary in size, but all can only be seen with a microscope.
Aclear, colorless body fluid found in the brain and spine that acts as a cushion or buffer for the brain's cortex, providing basic mechanical and immunological protection to the brain inside the skull. It also constitutes the content of the ventricles, cisterns, and sulci of the brain, as well as the central canal of the spinal cord.
The layer of blood vessels and connective tissue that rests between the white of the eye and retina (at the back of the eye). The choroid is part of the uvea and supplies nutrients to the inner parts of the eye.
Persisting over a long period of time. Relating to disease, one that is slow in progressing and long lasting.
A structure in the eye that releases a transparent liquid (aqueous humor) inside the eye.
A medical condition in which hard scar tissue largely replaces soft, healthy tissue in the liver. Severe scarring of the liver can prevent it from functioning well. It is important to know that cirrhosis is the end result of many kinds of injury to the liver, such as alcohol, hepatitis C, autoimmune liver disease and others (alone or in combination). Therefore, any chronic liver disease that is severe and progressive can result in cirrhosis.
Eye disease with symptoms that include blind spots, blurred vision and other vision problems as well as floaters. Most people are exposed to CMV in their lifetime but typically only those with weakened immune systems become ill from CMV infection.
Can spread from one person or organism to another by direct or indirect contact.
Corticosteroids are a group of natural and synthetic analogs of the hormones secreted by the pituitary gland. They are prescribed on a short-term basis as fast-working medication for particularly severe and painful symptoms.
Corticosteroids are a group of natural and synthetic analogs of the hormones secreted by the pituitary gland. They are prescribed on a short-term basis as fast-working medication for particularly severe and painful symptoms.
Also known as Cowden disease, involves a mutation in the tumor suppressor gene phosphatase and tensin homolog (PTEN).
A type of inflammatory bowel disease that causes irritation of the digestive, or gastrointestinal (GI) tract.
Treatments used to diminish some side effects of cancer treatments, particularly bone marrow suppression. CSFs stimulate the bone marrow so that it increases its production of blood cells. With more blood cells the risk of infection, anemia and bleeding is reduced.
Also known as intermediate uveitis, it affects the ciliary body.
A medication used to treat cancer of the ovaries, breast, blood and lymph system, and nerves (mainly in children). Cyclophosphamide is also used for retinoblastoma (a type of eye cancer that occurs mainly in children), multiple myeloma (cancer in the bone marrow), and mycosis fungoides (tumors on the skin). Cyclophosphamide belongs to a group of cancer medicines called alkylating agents.
A noncancerous, closed pocket of tissue that can be filled with fluid, pus, or other substance. Cysts feel like large peas under the surface of the skin.
Inflammation of an entire digit (a finger or toe), which can sometimes be painful. Dactylitis can occur in psoriatic arthritis and ankylosing spondylitis.
A medical condition that causes a persistent feeling of sadness, loss of interest, and hopelessness.
A dermatologist is a medical doctor specializing in the skin, the diseases of the skin, and the relationship of skin lesions to overall disease.
If a person has diabetes, their body is not able to properly use the sugar that is released from the food they eat. These sugars build up in the body and can make them feel nauseated, very hungry, very thirsty or very sick, with frequent urination.
Diagnostic examination used to x-ray the breast in patients who have signs or symptoms of disease, such as pain, a lump or nipple discharge. Doctors may use diagnostic mammography to look for tumors or other abnormalities.
A neurotransmitter that regulates movement and emotions.
Medications that work in a similar way to dopamine.
Ductography is an x-ray of the breast ducts (tubes that carry milk from the lobules to the nipple).
The point at which a tendon or ligament or muscle inserts into bone, where the collagen fibers are mineralized and integrated into bone tissue. Enthesitis is inflammation of the entheses, the sites where tendons or ligaments insert into the bone, points where recurring stress or inflammatory autoimmune disease can cause inflammation or occasionally fibrosis and calcification. One of the primary entheses involved in inflammatory autoimmune disease is at the heel, particularly the Achilles tendon.
A chemical substance in animals and plants that aids natural biological processes (such as digestion).
Estrogen is a hormone made by the body that helps develop and maintain female sex characteristics and plays a role in the growth of long bones. Estrogen can also be made in the laboratory. Estrogen may be used for birth control and to treat symptoms of menopause, menstrual disorders, osteoporosis, and other conditions.
An estrogen receptor is a protein found inside the cells of the female reproductive tissue, some other types of tissue, as well as some cancer cells. The hormone estrogen will bind (attach to) the receptors inside the cells and may cause the cells to grow.
Activity requiring physical effort, carried out especially to sustain or improve health and fitness.
Extreme tiredness, exhaustion that doesn’t get better with rest.
An episode when the symptoms of a disease or condition break out or intensify rapidly, become suddenly worse or more painful.
Small spots occasionally seen in the field of vision. Floaters may appear as dots, threads or cobwebs.
A doctor who specializes in the study of digestive organs including the liver.
Carries the information inside each cell of the body that determines biological traits, which are features or characteristics that are passed on by parents.
Relating to, caused by, or controlled by genes.
The genetic makeup of an organism or group of organisms with reference to a single trait, set of traits, or an entire complex of traits; the sum total of genes transmitted from parent to offspring.
A group of diseases associated with damage the eye's optic nerve. Glaucoma occurs when the fluid pressure inside the eyes slowly rises, damaging the optic nerve. Without treatment, people with glaucoma may slowly lose their peripheral (side vision). Over time, blindness may result.
A sugar occurring in many fruits, animal tissues and fluids, etc., and having a sweetness about half that of ordinary sugar.
The GCP defines international quality standards that governments can incorporate into regulations for clinical trials involving human subjects. Good Clinical Practice guidelines include standards on how clinical trials should be conducted. These also define the roles and responsibilities of clinical trial sponsors, investigators, and monitors. Monitors are hired by the sponsor to verify that the data/information at the site (hospital, clinic) is accurate.
A deep narrow pit that is formed by the tubular infolding of the epidermis and that encloses the root of the hair and into which oil glands often secrete.
Hemodialysis is a process where a machine filters wastes, salts and fluid from the blood when the kidneys are no longer healthy enough to do this on their own.
A liver disease caused by the hepatitis A virus (HAV). HAV causes the liver to swell and prevents it from working well. HAV is passed from person to person through fecal matter. Most often it is transmitted because of poor hand-washing after using the bathroom or changing a diaper, or before preparing and eating food. Unlike Hepatitis B and hepatitis C, it does not become chronic (long-term).
A liver disease caused by the hepatitis B virus (HBV). HBV causes the liver to swell and prevents it from working well. HBV is passed from person to person through bodily fluids such as blood, semen or vaginal secretions. Most often it is transmitted through sexual contact or from an infected mother to her infant during birth.
A doctor who specializes in the study of the liver.
HER2 is a type of protien(made with instructions from the HER2 gene) that helps to control cell growth. When the HER2 protein is made in larger than normal amounts by cancer cells, the cells may grow more quickly and can spread to other parts of the body.
There are two approved forms of testing that utilizes a biopsy of breast tissue and/or breast tumor cells to observe either how much of the HER2 protein is present in the tumor or how many copies of the HER2 gene that instruct the rapid development of that protein are present.The tests look for abnormal amounts of each and the results can help inform treatment options.
A virus that affects the skin or the nervous system, often causing blisters.
A condition that occurs when too much hair to grow on a woman’s face or body.
A disease caused by a fungus called Histoplasma. This fungus grows in soil and material contaminated with bat or bird droppings. Breathing the fungal spores can cause infection; it is not contagious between people.
HIV (short for human immunodeficiency virus) weakens the immune system by destroying important cells that fight disease and infection. A deficient immune system can’t protect from illness as it normally would. It is sometimes referred to as the AIDS virus.
Tests that measure the amount of certain proteins, called hormone receptors, in cancer tissue. Hormones can attach to these receptors. Having a lot of hormone receptors means that hormones can help the cancer grow.
Hormones (estrogen, progesterone, or both) are used to treat women after menopause to replace the hormones no longer produced by the ovaries.
A surgical operation for ulcerative colitis (UC) after removal of the bowel. An internal pouch is made from the ileum and attached to the anus. This means stools are passed through the anus in the usual way. Sometimes referred to as restorative proctocolectomy.
The network of cells, tissues and organs that work together to protect the body and defend it against infectious organisms (bacteria, viruses, etc.) and other harmful substances. Through a series of steps called the immune response, the immune system attacks these organisms and substances.
Suppression of the immune system and its ability to fight infection. Immunosuppression may be due to drugs or diseases.
Infections are caused by germs inside the body. Different types of infections include colds, sore throats, rashes, and cuts or wounds that become infected. How they are treated depends on what type of germ caused the infection.
A term to describe disease that can be transmitted through the environment, and can spread infection.
A natural process that the body normally uses to protect itself from harm, such as an injury or infection. Affected areas may become red, swollen and painful and feel hot or warm to the touch.
A type of breast cancer that begins in the breast ducts. The cancer cells spread from the ducts to the lymph vessels in the skin of the breast.
A disease characterized by inflammation, where the body’s immune system thinks its own cells are threats, attacking them as they would typically target external threats like foreign bacteria or a virus.
See PRINCIPAL INVESTIGATOR.
Ionizing radiation is made (or given off) by X-ray procedures, radioactive substances, rays that enter the Earth's atmosphere from outer space, as well as other sources. At high doses, ionizing radiation increases the chemical activity inside cells and can lead to health problems, such as cancer.
The colored portion of the eye containing a circular opening, the pupil, in its center.
A condition involving inflammation of the eye's iris. The iris is a part of the middle layer of the eye (uvea), so iritis is sometimes called anterior uveitis.
Yellowing of the skin and the whites of the eyes. It is caused by accumulation of bilirubin in the body when the liver is not working well.
The point of contact between elements of a skeleton whether movable or rigidly fixed together with the surrounding and supporting parts (as membranes, tendons or ligaments).
A rare childhood disease that makes the walls of the blood vessels in the body become inflamed; this disease can affect any type of blood vessel, including the arteries, veins and capillaries.
Kinesiologists are medical specialists who are leaders in the prevention and management of injury and chronic disease through movement. Using exercise, they are devoted to improving performance, health and overall quality of life.
An abnormal change in structure of an organ or body part due to injury or disease.
A hereditary cancer predisposition syndrome reported in 1969 by Drs. Frederick Li and Joseph Fraumeni from the National Cancer Institute.
The tough bands of tissue that serves to connect the articular extremities of bones or to support or keep an organ in place. Ligaments are usually composed of coarse bundles of dense white fibrous tissue parallel or closely interlaced – they are pliant and flexible, but not extensible.
The growth and spread of unhealthy cells in the liver. Also known as hepatocellular carcinoma.
A liver transplant is the process of replacing a diseased liver with a donated, healthy liver.
A reaction that looks like Lupus, defined as an inflammatory connective tissue disease often held to be an autoimmune disease. Occurring chiefly in women, Lupus is characterized by fever, skin rash and arthritis, often by acute hemolytic anemia, and by small hemorrhages in the skin and mucous membranes.
A lymph node is a rounded mass of lymphatic tissue surrounded by a capsule of connective tissue. Located in the lymphatic system, these nodes filter lymph (lymphatic fluid), and they store white blood cells. Lymph is a clear fluid that carries cells that help fight infections and other diseases. The lymphatic system is made up of the tissues and organs that produce, store, and carry white blood cells that fight infections and other diseases. Lymphatic vessels extend to all tissues of the body.
A cancer of a part of the immune system known as the lymph system.
An MRI is a procedure in which radio waves and a powerful magnet linked to a computer are used to create detailed pictures of the body’s interior. These pictures can distinguish between normal and diseased tissue.
Malignant is the description of a type of tumor that can invade and destroy tissues and spread to other parts of the body.
When cancer cells spread (metastasize) from one part of the body to another where they can grow into new tumors.
An approach based on the belief that the body can be stimulated to heal itself.
Chemical (such as dopamine, acetylcholine, or norepinephrine) which transmits or relays information or signals from one nerve cell (neuron) to other nerve cells or muscle cells.
A lymph node is a rounded mass of lymphatic tissue surrounded by a capsule of connective tissue. Located in the lymphatic system, these nodes filter lymph (lymphatic fluid), and they store white blood cells. Lymph is a clear fluid that carries cells that help fight infections and other diseases. The lymphatic system is made up of the tissues and organs that produce, store and carry white blood cells that fight infections and other diseases. Lymphatic vessels extend to all tissues of the body.
A small mass of rounded or irregular shape.
See OBSERVATIONAL MODEL and OBSERVATIONAL STUDY
The general design and strategy as to identifying and following up with participants during observational research studies. Types of observational study models include cohort, case-control, case-only, case-crossover, ecologic or community studies and family-based.
A research study whereby patients identified as belonging to study groups are assessed for biomedical or health outcomes. Patients may receive diagnostic, therapeutic, or other types of treatments, but the investigator does not assign participants to specific interventions (as in an interventional study).
A doctor who specializes in treating patients with cancer.
A medical doctor specializing in the branch of medical science dealing with the anatomy, functions and diseases of the eye.
A licensed professional who examines the eyes (using suitable instruments or appliances) for defects in vision and eye disorders in order to prescribe corrective lenses or other appropriate treatment.
The bones of a person with osteoporosis are weak and more likely to break. Anyone can develop osteoporosis; however, it is common in older women.
In biology, “overexpression” means to make too many copies of a protein or other substance. Overexpression of certain proteins or other substances can play a role in cancer development.
A rare form of breast cancer that begins in the breast ducts and spreads to the skin of the nipple and areola. The affected skin may appear to be crusted, scaly, red, or oozing.
A condition that occurs when all layers of the uvea are inflamed.
People with this condition have a mutation in the STK11 (also called LKB1) tumor suppressor gene.
The processes (in a living organism) of absorption, distribution (in the body), metabolism (process by which the body breaks down and converts medication into active chemical substances to treat a disease), and excretion of a drug or vaccine (usually via feces, urine and even respiration).
An inactive pill, liquid, or powder that has no treatment value. In clinical trials, experimental treatments are often compared with placebos to assess the treatment's effectiveness.
The study method whereby an inactive substance (the placebo) is given to one group of patients while another group receives the drug being tested. The results are then compared to see if the test treatment is more effective than the placebo in treating the condition.
Inflammation of the ileal pouch (an artificial rectum surgically created out of ileal gastrointestinal tissue in patients who have undergone a colectomy).
In drug and medical product/device development, a study that is classified as “preclinical” means it is at the stage of research where it has yet to be cleared for testing in humans and is still being tested in animals to gather important feasibility, and drug safety data.
The clinical trial doctor - a highly qualified physician who carries out the research and interacts with the patients. All clinical trial doctors also have additional training in clinical trials and research.
Progesterone is a hormone made by the body that plays a role in the menstrual cycle and pregnancy. The hormone progesterone can also be made in the laboratory. It is used for birth control and as a treatment for menstrual disorders, infertility, symptoms of menopause, and other conditions.
A protein found inside the cells of the female reproductive tissue, some other types of tissue, as well as some cancer cells. The hormone progesterone will bind (attaches) to the receptors inside the cells and may cause the cells to grow.
The probable outcome or course of a disease; can also refer to the chance of recovery or recurrence.
A Protocol is the study plan on which the clinical trial is based. All plans are carefully designed to safeguard the volunteers, as well as answer specific research questions. A protocol describes who may participate in the clinical trial, the schedule of tests, procedures, medications, and regular follow-ups by the principal investigator and team to monitor the health and safety of research study participants, and effectiveness of the treatment.
Thick, yellowish-white fluid formed at the site of inflammation during infection.
A treatment that uses high-energy particles or waves to destroy cancer cells.
A clinical trial method in which the subjects are randomly distributed into groups which are either given the test drug or which serve as the control group.
Often expressed in terms of a number that confirms that the act of randomization – subjects being assigned by chance into separate groups that are then used to compare different treatments—has occurred. The number is indicative of the total number of times this process has successfully taken place. There is often a total number of randomized subjects that is the goal for a study to meet in order to be considered complete.
In a clinical trial protocol the rationale is the reason why a clinical trial is being conducted.
Reactive arthritis is a type of arthritis, or joint inflammation that occurs as a “reaction” to an infection somewhere else in the body.
The last part of the colon.
Recurrence means cancer that has recurred or come back. This usually happens after a period of time during which the cancer could not be detected. The cancer recur in the same place as the original (primary) tumor or to another place in the body.
A period free of active disease with few or no symptoms.
Carefully planned studies (also called a clinical trial or clinical study) that observe or treat patients in order to develop or discover new treatments or medications. Researchers want to see how well a drug works, how it can be used safely, and learn how to prevent, screen for, better diagnose and treat health issues
When the retina has been lifted or pulled from its normal position. It can occur at any age, but is more likely in people over age 40.
Any of various synthetic or naturally occurring analogs of vitamin A.
A form of arthritis that causes pain, swelling, stiffness and loss of function in the joints. It can affect any joint but is common in the wrist and fingers.
A disease involving inflammation, usually in the lungs, skin or lymph nodes. Sarcoidosis starts as tiny, grain-like lumps, called granulomas and can affect any organ in the body.
A type of breast imaging test used to detect cancer cells in the breasts of some individuals who have already had abnormal mammograms or who have dense breast tissue. This is not used for screening or in place of a mammogram.
The first visit to the site of a clinical trial, that evaluates whether the person can participate or not. The volunteer meets the specialist and study coordinator, reviews the informed consent form, undergoes a physical exam and tests, reviews their medical history, etc. If they qualify, a baseline visit is scheduled.
A hormone, such as estrogen or testosterone, affecting sexual development or reproduction.
A narrow, elongated channel in the body that allows the escape of fluid.
The backbone. Vertebrae are any of the bony or cartilaginous segments that make up the spinal column.
A means of describing or classifying cancer based on the extent of the cancer in the body.
To destroy microorganisms which adhere to surfaces, usually by bringing objects to a high temperature with steam, dry heat, or boiling liquid.
Its the sensation of dfficulty in moving a joint or apparant loss of range of motion of a joint.
The investigative methods found in the protocol that are used in a clinical trial.
see PLACEBO
A doctor who manages the treatment of cancer by excision (surgery).
A tubular gland of the skin that excretes perspiration.
Abnormal enlargement of a body part, typically due to an accumulation of fluid.
A sexually transmitted disease that can affect the genital area, lips, mouth, or anus of both men and women. Syphilis can be transmitted from sexual contact with someone who has it. It can also pass from mother to baby during pregnancy.
A group of cells that work together to carry out a specific function.
Toxoplasmosis is a disease caused by the parasite Toxoplasma gondii. The infection can cause damage to the brain, eyes, and other organs.
Traditional Chinese medicine is based on the belief that disease is caused by problems with the flow of energy in the body. Herbal remedies as well as other procedures such as acupuncture and massage are used to restore the flow of energy in the body.
The act of transfusing donated blood, blood products or other fluid into the circulatory system of a person or animal.
Pulmonary tuberculosis (TB) is a contagious bacterial infection that involves the lungs. It may spread to other organs.
Can also be called a neoplasm. A tumor is an abnormal mass of tissue that occurs when cells divide more than healthy cells or do not die when they are supposed to. Tumors can be benign ( non cancerous), or malignant (cancerous).
Diabetes means a person’s blood sugar (glucose) level is too high. Type 2 diabetes, the more common type, means the body does not make or use the hormone insulin properly. Insulin helps glucose get into the cells to give them energy. Without insulin, too much glucose stays in the blood, and over time this can lead to serious problems of the heart, eyes, kidneys, nerves, and gums and teeth.
An ulcer is an area of tissue erosion (loss of surface tissue), for example, of the lining of the gastrointestinal (GI) tract or skin. Due to the erosion, an ulcer is concave like a crater and depressed below the level of the surrounding tissue.
A procedure that uses high-energy sound waves to look at tissues and organs inside the body. These sound waves make echoes that form images of the tissues and organs on a computer screen (sonogram). Ultrasound can be used to help diagnose diseases, such as cancer. It may also be used during pregnancy to check the fetus (unborn baby) and during medical procedures.
Inflammation of the uvea, the pigmented, vascular structure in the eye consisting of the iris, ciliary body, and choroid.
A substance that is usually injected into a person or animal to protect against a particular disease.
The amount of a virus(such as hepatitis B or hepatitis C virus) in the blood.
An extremely small living thing that causes a disease and that spreads from one person or animal to another. It can only reproduce itself by taking over a cell in the body of its host.
A disease associated with chronic inflammation of melanocytes (specialized cells that produce a pigment called melanin). Melanin gives skin, hair, and eyes their color.
A disease spread by infected mosquitoes. Although many infected people experience no symptoms, the infection may be associated with fever, headache, body aches, skin rash, and swollen lymph glands. These symptoms can last a few days to several weeks, and usually go away on their own. If West Nile virus enters the brain, it can be life-threatening.

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