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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Aerobic: Oxygen-requiring. Aerobic bacteria need oxygen to grow. Aerobic exercise requires the heart and lungs to work harder to meet the body's increased oxygen demand.
Aerobic exercise: Brisk physical activity that requires the heart and lungs to work harder to meet the body's increased oxygen demand. Aerobic exercise promotes the circulation of oxygen through the blood.
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Androgen: A male sex hormone that promotes the development and maintenance of the male sex characteristics. The major androgen is testosterone.
Ankle: The ankle joint is complex. It is made up of two joints: the true ankle joint and the subtalar joint:
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Arms: An appendage in anatomy and in clinical trials. See: Arm.
Atrophy: Wasting away or diminution. Muscle atrophy is wasting of muscle, decrease in muscle mass.
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Autosomal: Pertaining to a chromosome that is not a sex chromosome; relating to any one of the chromosomes save the sex chromosomes.
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Autosomal dominant: A pattern of inheritance in which an affected individual has one copy of a mutant gene and one normal gene on a pair of autosomal chromosomes. (In contrast, autosomal recessive diseases require that the individual have two copies of the mutant gene.) Individuals with autosomal dominant diseases have a 50-50 chance of passing the mutant gene and therefore the disorder onto each of their children. Examples of autosomal dominant diseases include Huntington disease, neurofibromatosis, and polycystic kidney disease.
Autosomal recessive: A genetic condition that appears only in individuals who have received two copies of an autosomal gene , one copy from each parent. The gene is on an autosome , a nonsex chromosome . The parents are carriers who have only one copy of the gene and do not exhibit the trait because the gene is recessive to its normal counterpart gene.
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Axon: A long fiber of a nerve cell (a neuron) that acts somewhat like a fiber-optic cable carrying outgoing (efferent) messages.
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Biopsy: The removal of a sample of tissue for purposes of diagnosis. (Many definitions of "biopsy" stipulate that the sample of tissue is removed for examination under a microscope. This may or may not be the case. The diagnosis may be achieved by other means such as by analysis of chromosomes or genes.)
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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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Calf: The belly or fleshy hind part of the leg below the knee. The calf is made up mainly of the gastrocnemius muscle (which comes from the Greek "gastroknemia" meaning calf of the leg, from "gaster" (gastr-), belly, + "kneme," leg).
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Cardiovascular: The circulatory system comprising the heart and blood vessels which carries nutrients and oxygen to the tissues of the body and removes carbon dioxide and other wastes from them.
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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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Charcot-Marie-Tooth disease: A genetic disease of nerves characterized by progressively debilitating muscle weakness, particularly of the limbs. The foremost feature is marked wasting of the distal extremities, particularly the peroneal muscle groups in the calves, resulting in "stork legs." The disease usually weakens the legs before the arms. Pes cavus (deformity of the foot) is often the first sign of the disease. Charcot-Marie-Tooth is one of the more frequent genetic diseases and the most common genetic disease of peripheral nerves. Physical therapy can help to delay somewhat the wasting of limbs. The disease is genetically heterogeneous. It can be inherited as an autosomal dominant , autosomal recessive , or X-linked trait . There are also sporadic cases with no family history of the disease that are due to new dominant mutations. Abbreviated CMT. Also known as Chacot-Marie-Tooth hereditary neuropathy, peroneal muscular atrophy , and hereditary motor and sensory neuropathy.
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Childhood: (1) The time for a boy or girl from birth until he or she is an adult. (2) The more circumscribed period of time from infancy to the onset of puberty .
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Chromosome: A visible carrier of the genetic information.
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Chromosomes: The microscopically visible carriers of the genetic material. They are composed of deoxyribonucleic acid (DNA) and proteins and, under a microscope, look like little rods.
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Clinical: 1. Having to do with the examination and treatment of patients. 2. Applicable to patients. A laboratory test may be of clinical value (of use to patients).
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Code: The genetic code is the correspondence between the triplet of bases in DNA with the amino acids. The discovery of the genetic code clearly ranks as one of the premiere events of what has been called the Golden Age of Biology (and Medicine).
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Condition: The term "condition" has a number of biomedical meanings including the following: - An unhealthy state, such as in "this is a progressive condition."
- A state of fitness, such as "getting into condition."
- Something that is essential to the occurrence of something else; essentially a "precondition."
- As a verb: to cause a change in something so that a response that was previously associated with a certain stimulus becomes associated with another stimulus; to condition a person, as in behavioral conditioning.
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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Deletion: Loss of a segment of DNA from a chromosome (and hence from the genome ).
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Diagnosis: 1 The nature of a disease ; the identification of an illness. 2 A conclusion or decision reached by diagnosis. The diagnosis is rabies . 3 The identification of any problem. The diagnosis was a plugged IV.
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Disease: Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the rubella (German measles) virus.
DNA: Deoxyribonucleic acid. One of two types of molecules that encode genetic information. (The other is RNA . In humans DNA is the genetic material; RNA is transcribed from it. In some other organisms, RNA is the genetic material and, in reverse fashion, the DNA is transcribed from it.)
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Dominant: A genetic trait is considered dominant if it is expressed in a person who has only one copy of that gene. (In genetic terms, a dominant trait is one that is phenotypically expressed in heterozygotes).
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Duplication: Part of a chromosome in duplicate, a particular kind of mutation (change) involving the production of one or more copies of any piece of DNA, including a gene or even an entire chromosome.
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Dysplasia: Abnormal in form. From the Greek dys- (bad, disordered, abnormal) and plassein (to form). For example, retinal dysplasia is abnormal formation of the retina during embryonic development.
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Family: 1. A group of individuals related by blood or marriage or by a feeling of closeness. 2. A biological classification of related plants or animals that is a division below the order and above the genus. 3. A group of genes related in structure and in function that descended from an ancestral gene. 4. A group of gene products similarly related in structure and function and of shared genetic descent. 5. Parents and their children. The most fundamental social group in humans.
Family history: The family structure and relationships within the family, including information about diseases in family members.
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Fatigue: A condition characterized by a lessened capacity for work and reduced efficiency of accomplishment, usually accompanied by a feeling of weariness and tiredness. Fatigue can be acute and come on suddenly or chronic and persist.
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Feet: The plural of foot, both an anatomic structure and a unit of measure.
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Female: The traditional definition of female was "an individual of the sex that bears young" or "that produces ova or eggs". However, things are not so simple today. Female can be defined by physical appearance, by chromosome constitution (see Female chromosome complement), or by gender identification. Female chromosome complement: The large majority of females have a 46, XX chromosome complement (46 chromosomes including two X chromosomes). A minority of females have other chromosome constitutions such as 45,X (45 chromosomes including only one X chromosome) and 47,XXX (47 chromosomes including three X chromosomes).
Flat feet: A condition of the feet in which the arch of the instep is flattened and the entire sole touches the ground.
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Foot: The end of the leg on which a person normally stands and walks. The foot is an extremely complex anatomic structure made up of 26 bones and 33 joints that must work together with 19 muscles and 107 ligaments to execute highly precise movements. At the same time the foot must be strong to support more than 100,000 pounds of pressure for every mile walked. Even small changes in the foot can unexpectedly undermine its structural integrity and cause pain with every step.
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Foot drop: See Foot-drop.
Gait: A manner of walking. Observation of the gait can provide clues to a number of diagnoses including Parkinson disease, cerebral palsy, congenital dislocation of the hip, and stroke.
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 code: The instructions in a gene that tell the cell how to make a specific protein. A, T, G, and C are the "letters" of the DNA code. They stand for the chemicals adenine, thymine, guanine, and cytosine, respectively, that make up the nucleotide bases of DNA. Each gene's code combines the four chemicals in various ways to spell out 3-letter "words" that specify which amino acid is needed at every step in making a protein.
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Genetic counseling: An educational counseling process for individuals and families who have a genetic disease or who are at risk for such a disease. Genetic counseling is designed to provide patients and their families with information about their condition and help them make informed decisions.
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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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Health: As officially defined by the World Health Organization, a state of complete physical, mental, and social well-being, not merely the absence of disease or infirmity.
Hormone: A chemical substance produced in the body that controls and regulates the activity of certain cells or organs.
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Hypertrophic: Exhibiting hypertrophy (enlargement or overgrowth of an organ or part of the body due to increased size of the constituent cells), as in hypertrophic cardiomyopathy.
Incision: A cut. When making an incision, a surgeon is making a cut.
Injury: Harm or hurt. The term "injury" may be applied in medicine to damage inflicted upon oneself as in a hamstring injury or by an external agent on as in a cold injury. The injury may be accidental or deliberate, as with a needlestick injury. The term "injury" may be synonymous (depending on the context) with a wound or with trauma.
Joint: A joint is the area where two bones are attached for the purpose of motion of body parts. A joint is usually formed of fibrous connective tissue and cartilage. An articulation or an arthrosis is the same as a joint.
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Kinesin: A family of microtubule motor proteins active in mitosis. The kinesins use chemical energy from the hydrolysis of ATP (adenosine triphosphatase) to generate mechanical force. They bind tightly to and move along the microtubules. The kinesins are not related in sequence to the other known class of microtubule motor proteins, the dyneins.
Leg: In popular usage, the leg extends from the top of the thigh down to the foot. However, in medical terminology, the leg refers to the portion of the lower extremity from the knee to the ankle.
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Ligament: A ligament is a tough band of connective tissue that connects various structures such as two bones.
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Lower leg: The lower leg is the bottom segment of the leg: the part below the knee.
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Male: The traditional definition of male was "an individual of the sex that produces sperm" (or some such). However, things are not so simple today. Male can be defined by physical appearance, by chromosome constitution (see Male chromosome complement), or by gender identification.
Microscope: An optical instrument that augments the power of the eye to see small objects. The name microscope was coined by Johannes Faber (1574-1629) who in 1628 borrowed from the Greek to combined micro-, small with skopein, to view. Although the first microscopes were simple microscopes, most (if not all) optical microscopes today are compound microscopes.
Motor: In medicine, having to do with the movement of a part of the body. Something that produces motion or refers to motion. For example, a motor neuron is a nerve cell that conveys an impulse to a muscle causing it to contract. The term "motor" today is also applied to a nerve that signals a gland to secrete. Motor is as opposed to sensory.
Muscle: Muscle is the tissue of the body which primarily functions as a source of power. There are three types of muscle in the body. Muscle which is responsible for moving extremities and external areas of the body is called "skeletal muscle." Heart muscle is called "cardiac muscle." Muscle that is in the walls of arteries and bowel is called "smooth muscle."
Muscular: Having to do with the muscles. Also, endowed with above average muscle development. Muscular system refers to all of the muscles of the body collectively.
Mutant: An individual with a mutant (changed) gene.
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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Myelin: The fatty substance that covers and protects nerves. Myelin is a layered tissue that sheathes the axons (nerve fibers). This sheath around the axon acts like a conduit in an electrical system, ensuring that messages sent by axons are not lost en route. It allows efficient conduction of action potentials down the axon. Myelin consists of 70% lipids (cholesterol and phospholipid) and 30% proteins. It is produced by oligodendrocytes in the central nervous system.
Myelination: The formation of the myelin sheath around a nerve fiber. Also known as myelinization.
Nerve: A bundle of fibers that uses chemical and electrical signals to transmit sensory and motor information from one body part to another. See: Nervous system.
Nerve cell: See: Neuron.
Neurological: Having to do with the nerves or the nervous system.
Neurologist: A doctor who specializes in the diagnosis and treatment of disorders of the nervous system.
Neuropathy: Any and all disease or malfunction of the nerves.
NIH: The National Institutes of Health. The NIH is an important U.S. health agency. It is devoted to medical research. Administratively under the Department of Health and Human Services (HHS), the NIH consists of 20-some separate Institutes and Centers. NIH's program activities are represented by these Institutes and Centers.
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NINDS: Stands for the National Institute of Neurological Disorders and Stroke, one of the National Institutes of Health in the U.S., whose mission is to "support and conduct research and research training on the normal structure and function of the nervous system and on the causes, prevention, diagnosis, and treatment of more than 600 nervous system disorders including stroke, epilepsy, multiple sclerosis, Parkinson's disease, head and spinal cord injury, Alzheimer's disease, and brain tumors."
Onset: In medicine, the first appearance of the signs or symptoms of an illness as, for example, the onset of rheumatoid arthritis . There is always an onset to a disease but never to the return to good health. The default setting is good health.
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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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Palsy: Paralysis, generally partial, whereby a local body area is incapable of voluntary movement (motor function). For example, Bell's palsy is localized paralysis of the muscles on one side of the face. The word "palsy" is a corruption (and contracture) of the French word "paralysie" which means "paralysis."
Peripheral: Situated away from the center, as opposed to centrally located.
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Peroneal muscular atrophy: See: Charcot-Marie-Tooth disease.
Physical therapy: A branch of rehabilitative health that uses specially designed exercises and equipment to help patients regain or improve their physical abilities. Physical therapists work with many types of patients, from infants born with musculoskeletal birth defects, to adults suffering from sciatica or the after- effects of injury, to elderly post-stroke patients.
Physiologic: Something that is normal, neither due to anything pathologic nor significant in terms of causing illness.
Point mutation: A single nucleotide base change in the DNA . A point mutation may consist of the loss of a nucleotide, the insertion of an additional nucleotide, or the substitution of one nucleotide for another.
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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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Proteins: Large molecules 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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Recurrent: Back again. A recurrent fever is a fever that has returned after an intermission: a recrudescent fever.
Scoliosis: Sideways ( lateral ) curving of the spine (the backbone ).
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Sensory: Relating to sensation , to the perception of a stimulus and the voyage made by incoming ( afferent ) nerve impulses from the sense organs to the nerve centers.
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Shock: In medicine, shock is a critical condition brought on by a sudden drop in blood flow through the body. There is failure of the circulatory system to maintain adequate blood flow. This sharply curtails the delivery of oxygen and nutrients to vital organs. It also compromises the kidney and so curtails the removal of wastes from the body. Shock can be due to a number of different mechanisms including not enough blood volume (hypovolemic shock) and not enough output of blood by the heart (cardiogenic shock). The signs and symptoms of shock include low blood pressure (hypotension), overbreathing (hyperventilation), a weak rapid pulse, cold clammy grayish-bluish (cyanotic) skin, decreased urine flow (oliguria), and mental changes (a sense of great anxiety and foreboding, confusion and, sometimes, combativeness).
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Sign: Any objective evidence of disease. Gross blood in the stool is a sign of disease. It can be recognized by the patient, doctor, nurse, or others. In contrast, a symptom is, by its nature, subjective. Abdominal pain is a symptom. It is something only the patient can know.
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Skin: The skin is the body's outer covering. It protects us against heat and light, injury, and infection. It regulates body temperature and stores water, fat, and vitamin D. Weighing about 6 pounds, the skin is the body's largest organ. It is made up of two main layers; the outer epidermis and the inner dermis.
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Spinal cord: The major column of nerve tissue that is connected to the brain and lies within the vertebral canal and from which the spinal nerves emerge. Thirty-one pairs of spinal nerves originate in the spinal cord: 8 cervical , 12 thoracic , 5 lumbar, 5 sacral, and 1 coccygeal. The spinal cord and the brain constitute the central nervous system ( CNS ). The spinal cord consists of nerve fibers that transmit impulses to and from the brain. Like the brain, the spinal cord is covered by three connective-tissue envelopes called the meninges . The space between the outer and middle envelopes is filled with cerebrospinal fluid ( CSF ), a clear colorless fluid that cushions the spinal cord against jarring shock. Also known simply as the cord.
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Strain: 1. An injury to a tendon or muscle resulting from overuse or trauma. 2. A hereditary tendency that originated from a common ancestor. 3. To exert maximum effort. 4. To filter.
Stress: Forces from the outside world impinging on the individual. Stress is a normal part of life that can help us learn and grow. Conversely, stress can cause us significant problems.
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Surgery: The word "surgery" has multiple meanings. It is the branch of medicine concerned with diseases and conditions which require or are amenable to operative procedures. Surgery is the work done by a surgeon. By analogy, the work of an editor wielding his pen as a scalpel is s form of surgery. A surgery in England (and some other countries) is a physician's or dentist's office.
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Tendon: The tissue by which a muscle attaches to bone. A tendon is somewhat flexible, but fibrous and tough. When a tendon becomes inflamed, the condition is referred to as tendinitis or tendonitis. Inflamed tendons are at risk for rupture.
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Therapy: The treatment of disease .
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Thumb: The short thick finger situated at an angle to the other fingers so it can be opposed to the them, making it possible to pick up and hold things. The thumb is analogous in position to the big toe (the great toe) and similarly has only two phalanges (all the other digits have three).
Tooth: The structures within the mouth that allow for biting and chewing. Teeth have different shapes, depending on their purpose. The sharp canine and frontal teeth allow for biting, while the flattened, thick molars in the back of the mouth provide grinding surfaces for masticating food. All teeth have essentially the same structure: a hard crown above the gum line, which is attached to two or four roots by a portion called the neck. The roots are covered with a very thin layer of bone, and keep the tooth embedded in the bones of the jaw. The exposed exterior of the tooth is covered with tough enamel. Under the enamel is a thick layer of dentin, and in the center is the pulp. Blood vessels and nerves are found within the pulp.
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X chromosome: A sex chromosome found in both females and males. Normal females usually have two X chromosomes. Normal males usually have one X along with a Y chromosome . The complete chromosome complement consisting of 46 chromosomes is conventionally written as 46,XX for females and 46,XY for males.
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X-linked: On the X chromosome. "Linked" in genetics does not mean merely associated. An X-linked gene travels with the X chromosome and therefore is part of the X chromosome.
Y chromosome: The sex chromosome found together with an X chromosome in most normal males. Once thought to be a genetic wasteland, the Y now is known to contain at least 20 genes, some of them unique to the Y including the male-determining gene and male fitness genes that are active only in the testis and are thought responsible for the formation of sperm. Other genes on the Y have counterparts on the X chromosome, are active in many body tissues and play crucial "housekeeping" roles with the cell.
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- Electromyogram (EMG) - EMG (electromyogram) can detect abnormal muscle electrical activity in conditions such as neuropathy, carpal tunnel syndrome, pinched nerves, herniated discs, peripheral nerve damage, ALS, and more.
- Genetic Counseling - Read about genetic counceling, what it is, who should receive genetic counceling, and resources such as how to find a genetic councelor for a particular disease or condition.
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