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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Aqueduct: A channel for the passage of fluid.
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Audiologist: A health care professional who is trained to evaluate hearing loss and related disorders, including balance (vestibular) disorders and tinnitus (ringing in the ears) and to rehabilitate individuals with hearing loss and related disorders.
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Barotrauma: Trauma caused by rapid or extreme changes in air pressure, especially affecting enclosed cavities within the body such as the middle ear (otic barotrauma), the sinuses (sinus barotrauma), and the lungs (pulmonary barotrauma).
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Bilateral: Having, or relating to, two sides. Bilateral is as opposed, for example, to unilateral (which means having, or relating to, one side).
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."
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Breathing: The process of respiration, during which air is inhaled into the lungs through the mouth or nose due to muscle contraction, and then exhaled due to muscle relaxation.
Chromosome: A visible carrier of the genetic information.
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Cochlea: The cochlea is the part of the inner ear that converts mechanical energy (vibrations) into nerve impulses sent to the brain. It is also known as the organ of hearing.
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Cochlear: Pertaining to the cochlea, the organ of hearing.
Cochlear implant: A small complex electronic device that is surgically placed (implanted) within the inner ear to help persons with certain types of deafness to hear. Cochlear implants rarely cure severe or profound deafness but they can help some hearing-impaired people to distinguish the sounds of language clearly enough to participate in a verbal environment. For children who are congenitally deaf (born deaf), a cochlear implant can markedly increase the child's chance of being able to function effectively in mainstream school classes.
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Computed tomography: An x-ray procedure that uses the help of a computer to produce a detailed picture of a cross section of the body. Also called a CT scan or CAT scan.
Deafness: Deafness is defined by partial or complete hearing loss. Levels of hearing impairment vary from a mild but important loss of sensitivity to a total loss of hearing. Older adults suffer most often from hearing loss. Age-related hearing loss affects 30 to 35 percent of the population between the ages of 65 and 75 years, and 40 percent of the population over the age of 75. The most common cause of hearing loss in children is otitis media, a disorder that affects predominantly infants and young children. A substantial number of hearing impairments are caused by environmental factors such as noise, drugs, and toxins. Many sensorineural hearing losses result from a genetic predisposition.
Duct: A passage or a tube with well-defined walls suitable for the conveyance of air or liquids, as the bile duct and the pancreatic duct.
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Ear: The hearing organ. There are three sections of the ear, according to the anatomy textbooks. They are the outer ear (the part we see along the sides of our head behind the temples), the middle ear, and the inner ear. But in terms of function, the ear has four parts: those three and the brain. Hearing thus involves all parts of the ear as well as the auditory cortex of the brain. The external ear helps concentrate the vibrations of air on the ear drum and make it vibrate. These vibrations are transmitted by a chain of little bones in the middle ear to the inner ear. There they stimulate the fibers of the auditory nerve to transmit impulses to the brain.
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Euthyroid: The state of having normal thyroid gland function. As opposed to hyperthyroid (overactive thyroid) and hypothyroid (underactive thyroid).
Family history: The family structure and relationships within the family, including information about diseases in family members.
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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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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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Genetic disease: A disease caused by an abnormality in an individual's genome .
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Genetic testing: Tests done for clinical genetic purposes. Genetic tests may be done for diverse purposes pertaining to clinical genetics, including the diagnosis of genetic disease in children and adults; the identification of future disease risks; the prediction of drug responses; and the detection of risks of disease to future children.
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Gland: 1. A group of cells that secrete a substance for use in the body. For example, the thyroid gland. 2. A group of cells that removes materials from the circulation. For example, a lymph gland.
Goiter: Enlargement of the thyroid gland .
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Hearing aid: An instrument to help in hearing. There are four common styles of hearing aids.
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Hormone: A chemical substance produced in the body that controls and regulates the activity of certain cells or organs.
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Hyperbaric: Pertaining to gas pressures greater than 1 atmosphere* of pressure. Also pertaining to solutions that are more dense than the medium to which they are added. The term "hyperbaric" is derived from Greek roots: " hyper- " meaning high, beyond, excessive, above normal + "baros" meaning weight.
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Implant: 1. To embed; to set in firmly. In embryology, the fertilized egg implants in the uterine lining 6 or 7 days after conception (fertilization). In medicine today, many things may be implanted.
2. That which is embedded. For example: lens implants, breast implants, cochlear implants, defibrillator implants, pacemaker implants, etc.
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.
Inner ear: There are three sections of the ear. They are the external ear, the middle ear, and the inner ear. The inner ear is far and away the most highly complex. The essential component of the inner ear for hearing is the membranous labyrinth where the fibers of the auditory nerve (the nerve connecting the ear to the brain) end. The membranous labyrinth is a system of communicating sacs and ducts (tubes) filled with fluid (the endolymph). The membranous labyrinth is lodged within a cavity called the bony labyrinth. At some points the membranous labyrinth is attached to the bony labyrinth and at other points the membranous labyrinth is suspended in a fluid (the perilymph) within the bony labyrinth.
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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.
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Magnetic resonance imaging : A special radiology technique designed to image internal structures of the body using magnetism, radio waves, and a computer to produce the images of body structures. In magnetic resonance imaging (MRI), the scanner is a tube surrounded by a giant circular magnet. The patient is placed on a moveable bed that is inserted into the magnet. The magnet creates a strong magnetic field that aligns the protons of hydrogen atoms, which are then exposed to a beam of radio waves. This spins the various protons of the body, and they produce a faint signal that is detected by the receiver portion of the MRI scanner. A computer processes the receiver information, and an image is produced. The image and resolution is quite detailed and can detect tiny changes of structures within the body, particularly in the soft tissue, brain and spinal cord, abdomen and joints.
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MRI: Abbreviation and nickname for magnetic resonance imaging. For more information, see: Magnetic Resonance Imaging; Paul C. Lauterbur; Peter Mansfield.
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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Neck: The part of the body joining the head to the shoulders. Also, any narrow or constricted part of a bone or organ that joins its parts as, for example, the neck of the femur bone.
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NIDCD: Stands for National Institute on Deafness and Other Communication Disorders, one of the US National Institutes of Health (the NIH).
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Otolaryngologist: A physician specialized in diagnosing and treating diseases of the head and neck, especially those involving the ears, nose, and throat (ENT). Also called an ENT, ENT doctor, or ENT physician.
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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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Pathologist: A doctor who identifies diseases by studying cells and tissues under a microscope.
Pendred syndrome : A genetic disease characterized by congenital deafness, abnormality of the bony labyrinth in the inner ear, and goiter (enlargement of the thyroid gland). The congenital nerve deafness is severe to profound and is not progressive (does not get worse). The abnormality of the labyrinth is evident on a CT scan of the temporal bone in the skull. The goiter is not present at birth but develops in early puberty or adulthood. It is due to a defect in the making of thyroid hormone (thyroid hormone organification defect). However, there is usually a normal level of thyroid hormone (euthyroid) due to compensated hypothyroidism. Other key features of the syndrome include defects in vestibular function, malformation of the balance portion of the ear (the cochlea), swelling in front of neck due to the goiter, and mental retardation due to the congenital thyroid defect. Pendred syndrome is inherited in an autosomal recessive manner and is due to mutation in the SLC26A4 gene on chromosome 7q31 that encodes a protein called pendrin. Also known as deafness with goiter, goiter-deafness syndrome, and thyroid hormone organification defect IIb.
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Perchlorate: A chemical used as the primary ingredient of solid rocket propellant and in munitions beginning in the 1950s. Perchlorate is also used in the production of explosives and fireworks. It adds the blue color to firework displays. Perchlorate remains in use and is unregulated. For disposal, perchlorate has often been dissolved in water and poured on the ground. Perchlorate dissolves easily and moves quickly in underground water and surface water. It breaks down very slowly in the environment. Wastes from the manufacture and improper disposal of perchlorate-containing chemicals are increasingly being discovered in soil and water. Traces of perchlorate have been found in groundwater in virtually every state in the US. It has been detected in many rivers and low levels have been found in some lettuce samples and milk. The term perchlorate includes ammonium perchlorate, potassium perchlorate, sodium perchlorate, and perchloric acid.
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Primary care: The "medical home" for a patient, ideally providing continuity and integration of health care. All family physicians and most pediatricians and internists are in primary care. The aims of primary care are to provide the patient with a broad spectrum of care, both preventive and curative, over a period of time and to coordinate all of the care the patient receives.
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Progressive: Increasing in scope or severity. Advancing. Going forward. In medicine, a disease that is progressive is going from bad to worse.
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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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Recessive: A condition that appears only in individuals who have received two copies of a mutant gene, one copy from each parent. The individuals with a double dose of the mutated gene are called homozygotes. Their parents, each with a single dose of the mutated gene, appear normal and are called heterozygotes, or gene carriers.
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Rule out: A term much used in medicine, meaning to eliminate or exclude something from consideration. The ACB (albumin cobalt binding) test helps rule out a heart attack in the differential diagnosis of severe chest pain.
Sign language: A language that employs signs made with the hands and other movements, including facial expressions and postures of the body, used primarily by people who are deaf. There are many different sign languages as, for example, British and American sign languages. British sign language (BSL) is not easily intelligible to users of American sign language (ASL). Unlike ASL, BSL uses a two-handed alphabet. In developing countries, deaf people may use the sign language of educators and missionaries from elsewhere in the world. For example, some deaf individuals in Madagascar use Norwegian sign language. By contrast, deaf children in Nicaragua have created their own sign language. Study of the emerging Nicaruagan sign language (NSL) has revealed that children naturally possess learning abilities capable of giving language its fundamental structure. See also: American sign language .
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Skull: The skull is a collection of bones which encase the brain and give form to the head and face. The bones of the skull include the following: the frontal, parietal, occipital, temporal, sphenoid, ethmoid, zygomatic, maxilla, nasal, vomer, palatine, inferior concha, and mandible.
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Speech-language pathologist: A specialist who evaluates and treats communication disorders and swallowing problems . A speech-language pathologist is sometimes called a speech therapist or speech pathologist.
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Symptom: Any subjective evidence of disease. Anxiety, lower back pain, and fatigue are all symptoms. They are sensations only the patient can perceive. In contrast, a sign is objective evidence of disease. A bloody nose is a sign. It is evident to the patient, doctor, nurse and other observers.
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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Thyroid: 1. The thyroid gland . Also, pertaining to the thyroid gland. 2. A preparation of the thyroid gland used to treat hypothyroidism . 3. Shaped like a shield. (The thyroid gland was so-named by Thomas Wharton in 1656 because it was shaped like an ancient Greek shield.)
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Thyroid gland: A gland that makes and stores hormones that help regulate the heart rate, blood pressure, body temperature, and the rate at which food is converted into energy. Thyroid hormones are essential for the function of every cell in the body. They help regulate growth and the rate of chemical reactions ( metabolism ) in the body. Thyroid hormones also help children grow and develop.
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Thyroid hormone: A chemical substance made by the thyroid gland for export into the bloodstream. The thyroid gland needs iodine to make thyroid hormones. The two most important thyroid hormones are thyroxine (T4) and triiodothyronine (T3).
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Tomography: The process for generating a tomogram , a two-dimensional image of a slice or section through a three-dimensional object. Tomography achieves this remarkable result by simply moving an x-ray source in one direction as the x-ray film is moved in the opposite direction during the exposure to sharpen structures in the focal plane, while structures in other planes appear blurred. The tomogram is the picture; the tomograph is the apparatus; and tomography is the process.
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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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Vestibular: 1) Having to do with a structure that is a vestibule (entrance), such as the vestibule of the ear. 2) Having to do with the body's system for maintaining equilibrium.
Vestibular system: A system in the body that is responsible for maintaining balance , posture , and the body's orientation in space. This system also regulates locomotion and other movements and keeps objects in visual focus as the body moves.
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Vestibule: In medicine and dentistry, a vestibule is a space or cavity at the entrance to a canal, channel, tube, vessel. In ancient Rome, the "vestibulum" was an entrance or enclosed porch leading into the house.
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