Term
| Marfan Syndrome (Autosomal Dominant Disorder) |
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Definition
A rare, degenerative, generalized disorder of the connective tissue. Single gene mutation on chromosome 15
Increased Height
Long Extremeties
Arachnodactyly
Chest asymmetry
Scoliosis
Kyphosis
Nearsightedness
Lens Displacement
Valvular Defects (redundancy of leaflets, stretching of the chordae tendineae, mitral valve prolapse, aortic insufficiency)
Coarctation of the aorta (most life threatening)
Complications:
Weak Joints and ligaments that are prone to injury
Cataracts Retinal Detachment
Severe mitral regurgitation
Spontaneous pneumothorax Inguinal hernia
Diagnostic may include a skin biopsy, x-ray to see abnormalties in skeleton, & echocardigram for cardiac abnormalties.
Treatment:
Surgical repair of aneurysms and valvular defects
Surgical correction of ocular deformaties
Steroid and sex hormone therapy to aid in closure of long bones to limit height
Beta-adrenergic blockers to limit complications from cardiac deformities
Bracing and physical therapy for mild scoliosis and surgical correction for sever cases |
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Term
| Neurofibromatosis (Autosomal Dominant Disorder) |
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Definition
Involves neurogenic tumors that arise from Schwann cells, which keep peripheral nerve fibers alive
Type I: involves cutaneous lesions that may include raised lumps, cafe' au lait spots and freckling. Caused by a mutation on chromosome 17
Type II: involves bilateral acoustic tumors that cause hearing loss. Caused by a mutation on chromosome 22. |
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Term
| Phenylketonuria (Autosomal recessive disorder) |
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Definition
Failing to meet milestones
Microencephaly
Progressive neurological decline
Seizures
Hyperactivity
Electrocardiograph (EKG) abnormalties
Learning disability
Mousy smelling urine, skin, hair, sweat
Eczema
Treatment: diet low in phenylalanine, newborns may be breastfed but the quantity has to be monitered. Avoid proteins and minimize starches. Oral medication like sapropterin.
A deficiency of phenylalanine hydroxylase, the enzyme necessary for the conversion of phenylallanine to tyrosine, due to mutation on chromosome 12. This leads to toxic levels in the blood. Leads to severe mental retardation.
Newborns are routinely screened after birth. |
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Term
| Tay-Sachs Disease (autosomal recessive disorder) |
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Definition
A deficiency or absence of Hexosaminidase A, which is necessary to metabolize certain lipids. These lipids accumulate and progressively demyelinate nerve cells. This destruction of nerve cells leads to a progressive mental and motor deterioration. Almost exclusively affects individuals of Jewish descent.
exaggerated Moro reflex (startle reflex) at birth
Apathy to loud sounds by age 3-6 months
Inability to sit up, lift head, or grasp objects
Difficulty turning over
Progressive vision loss
deafness and blindness
seizure activity
paralysis
spasticity
pneumonia
Diagnosed by a thorough history and physical examination as well as deficient serum and amniotic hexosaminidase A levels
No known cure
Treatments:
parenteral nutrition (tube feedings)
pulmonary hygiene
skin care
laxatives
and psychological counseling |
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Term
| Fragile X Syndrome (Sex-Linked Disorder) |
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Definition
X-linked dominant disorder associated with a single trinucleotide gene sequence on the X chromosome, which leads to a failure to express a protein necessary for neural tube development.
Mental retardation
Behavioral and learning disabilities
Prominent Jaw and Forehead
Long, narrow face with long or large ears
Connective tissue abnormalties
Large testes
Hyperactivity
Seizures
Speech difficulties
Language delays
Autistic-like behaviors
Diagnosis: identification of clinical manifestations and a positive genetic test.
No known cure.
Treatment focuses on controlling individual symptoms. Behavioral and psychological support may be indicated for both parents and the affected child. Physical, Speech, and Occupational therapy. |
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Term
| Cleft Lip and Cleft Palate (multifactorial disorder) |
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Definition
Conditions develop in the second month of pregnancy, when the facial structures do not fuse properly.
May be unilateral or bilateral.
Severity of the deformity varies from a mild notch to involving the lip, palate, and tongue.
Feeding and Nutritional issues may occur.
Can be detected with prenatal ultrasound.
A series of surgeries is performmed to close the gap in the lip and palate.
Speech therapy and feeding devices can minimize speech delays and nutritional defecits. |
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Term
| Trisomy 21 or Down Syndrome (chromosomal disorder) |
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Definition
Results in three copies of chromosome 21.
Risk increases with parental age and environmental teratogen exposure.
Hypotonia
Distinctive facial features (low nasal bridge, epicanthic folds, protruding tongue, low set ears, and small, open mouth)
Single crease on the palm (simian crease)
white spots on the iris
mental retardation
Congenital heart defects
Strabismus and cataracts
Poorly developed genitalia and delayed puberty.
Early death can occur due to cardiac and pulmonary complications (hypertension, pneumonia
Increased susceptibility to leukemia and infections
Can be detected using 4-D ultrasounds, amniocentesis and serum hormone levels.
No known cure. |
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Term
| Monosomy X or Turners Syndrome (chromosomal disorder) |
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Definition
Short stature
Lymphedema of the hands and feet
Broad chest with widely spaced nipples
Low-set ears
Small lower jaw
Drooping eyelids
Reproductive sterility
Increased weight
Small fingernails
Webbing of the neck
Coarctation of the aorta
Horseshoe kidney
Visual disturbances (e.g., glaucoma)
Ear infections
Hearing loss
Result of a deletion of part or all of an X chromosome. This condition only affects females who develop gonadal streaks instead of ovaries; therefore, these females will not menstrate.
Treated by administering female sex hormones to provide secondary sex characteristics and skeletal growth. Growth hormones may also be administered
Diagnosis is often delayed until late childhood or early adolescence if the clinical presentation is more subtle, but chromosomal analysis can confirm diagnosis. |
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Term
| PolysomY X or Klinefelter's syndrome (chromosomal disorder) |
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Definition
Small penis, prostate gland, and testicles
Sparse facial and body hair
Sexual dysfunction
Gynecomastia
Long legs w/ short, obese trunk
Tall stature
Behavioral problems
Learning disabilitits
Increased incidence of pulmonary disease and varicose veins
A relatively common abnormality that results from an extra X chromosome creating an XXY sex chromosome. Occur in males. Becomes apparent at puberty when testicles fail to mature, rendering affected boys infertile.
Other problems include osteoporosis and breast cancer
Diagnostic procedures include history, physical examination, hormone levels, and chromosomal testing
Treatment includes male hormone replacement. Mastectomy can be performed in cases of gynecomastia and breast cancer. |
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Term
| Alarm, Resistance, Exhaustion |
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Definition
| Three Stages of the General Adaptation Syndrome |
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Term
| General Adaptation Syndrome |
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Definition
| a cluster of systemic manifestations as a result of modifying in an attempt to cope with a stressor. |
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Term
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Definition
| includes the generalized stimulation of the sympathetic nervous system resulting in the release of catecholamines and cortisol, or the fight-or-flight response. |
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Term
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Definition
| the body chooses the most effective and advantageous defense. Cortisol levels and the sympathetic nervous system returns to normal, causing the fight-or-flight symptoms to disappear. The body will either adapt or alter in an attempt to limit problems or become desensitized to the stressor. |
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Term
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Definition
| the body becomes depleted and damage may appear as homeostasis can no longer be maintained. |
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Term
| Local adaptation syndrome |
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Definition
| the body is attempting to limit the damage associated with the stressor to one location. |
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Term
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Definition
| a universal experience of human existence that can negatively affect the body's fragile homeostasis state. |
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Term
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Definition
| foreign agent that riggers the production of antibodies by the immune system. |
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Term
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Definition
| includes physical and chemical barriers that indiscriminately protect against all invaders (nonspecific immunity). |
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Term
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Definition
| Proteins used by the immune system to identify and neutralize foreign agents, such as viruses and bacteria. |
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Term
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Definition
| An antibody made by the immune system that attacks an individual's own proteins. |
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Term
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Definition
| located in the anterior superior mediastinum;functions are the development of T-lymphocytes and the production and secretion of thymosins. |
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Term
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Definition
| Connective tissue containing many lymphocytes; transports immune cells, antigen-presenting cells, fatty acids, and fats; filters body fluids. |
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Term
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Definition
| Soft, fatty tissue found inside of bones. Contains stem cells and leukocytes. |
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Term
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Definition
| An infection-fighting agent. Usually the first to arrive on the scene of an infection, they are attracted by various chemicals released by infected tissue. They escape from the capillary wall and migrate to the site of infection. Once they get to the site, they phagocytize microorganisms, preventing the infection from spreading. |
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Term
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Definition
| White blood cells that bind IgE and release histamine in anaphylaxis. |
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Term
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Definition
| White blood cells involved in allergic reactions |
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Term
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Definition
| White blood cells that replenish macrophages and dendritic cells in normal states and respond to inflammation by migrating to infected tissue to become macrophages and dendritic cells, which elicits an immune response. |
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Term
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Definition
| White blood cells within tissues, produced by differentiation of monocytes. Functions are phagocytosis and stimulating lymphocytes and other immune cells to respond to respond to pathogens. |
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Term
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Definition
| Connective tissue cells that contain histamine, heparin, hyaluronic acid, slow-reacting substance of anaphylaxis, and serotonin. |
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Term
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Definition
| Mature in the bone marrow where they differentiate into memory cells or immunoglobulin-secreting (antibody)cells. Eliminate bacteria, neutralize bacterial toxins, prevent viral reinfection, and produce immediate inflammatory response. |
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Term
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Definition
| White blood cells that develop from B cells and produce large volumes of specific antibodies. |
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Term
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Definition
| T cells are produced in the bone marrow and mature in the thymus. Two major types work to destroy antigens- regulator cells and effector cells. |
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Term
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Definition
| A type of T cell that destroys cells infected with viruses by releasing lymphokines that destroy cell walls. Also called cytotoxic cells and effector cells. |
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Term
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Definition
| Type of B cell that aids quick response to subsequent exposures to an antigen because memory cells recall the antigen as foreign, and antibody production is rapid. |
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Term
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Definition
| A type of regulator cell that activates, or calls up, B cells to produce antibodies. |
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Term
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Definition
| Natural killer cells that destroy cancer cells, foreign cells, and virus-infected cells. |
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Term
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Definition
| A group of inactive proteins in the circulation that, when activated, stimulate the release of other chemical mediators, promoting inflammation, chemotaxis, and phagocytosis. |
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Term
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Definition
Released by mast cells and basophils, especially during allergic reactions, triggering the inflammatory response. Increases the permeability of the capillaries to white blood cells and other proteins, in order to allow them to engage foreign invaders in the infected tissues.
(stimulates vasodilatation) |
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Term
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Definition
| Induce vasodilation and contraction of smooth muscle. |
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Term
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Definition
A group of lipid compounds that have a variety of effects, including constriction or dilation in vascular smooth muscle cells, control of cell growth, and sensitizing spinal neurons to pain.
(Stimulates pain receptors in the area) |
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Term
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Definition
| Fatty molecules of the immune system that contribute to contraction of bronchiolar smooth muscle. |
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Term
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Definition
| Small cell-signaling protein molecules that are extensively involved in intracellular communication. includes interleukins, interferons, and lymphokines. |
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Term
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Definition
| A group of cytokines that can cause cell death (apoptosis). |
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Term
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Definition
| Attract phagocytes to the area of inflammation. |
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Term
| Inflammatory response, pyrogens, interferons, and complement proteins. |
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Definition
| Four components of the second line of defense |
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Term
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Definition
| characterized by erythema, edema, heat, and pain at the site. |
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Term
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Definition
are molecules released by macrophages that have been that have been exposed to bacteria. They travel to the hypothalamus, the portion of the brain that controls body temperature. They turn up heat on the bacteria producing fever and creating an unpleasant environment for bacterial growth.
Mild fevers also cause the spleen and liver to reduce iron from the blood, which is reqired by many bacteria to reproduce. |
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Term
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Definition
| Small proteins released from cells infected by viruses. They diffuse away from the site of invasion through the interstitial tissue and bind to receptors on the plasma membranes of noninfected cells. |
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Term
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Definition
| Enhances the action of antibodies. Circulate in the blood in an inactive state. When foreign substances invade the body, they are activated. |
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Term
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Definition
| mingle with antigens as they circulate throughout the body's fluids and peripheral lymphoid tissue (tonsils, lymph nodes, spleen, and intestinal lymphoid tissue). |
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Term
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Definition
| function is to destroy the antigen. |
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Term
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Definition
| to produce antibodies against the antigen. |
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Term
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Definition
| Main defense against bacteria; can cross the placenta to protect fetus against infections (passive immunity) |
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Term
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Definition
| Fight blood infections and help trigger additional production of IgG; present in lymphocyte cells; first antibody made by a developing fetus. |
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Term
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Definition
| Found in membranes of respiratory and gastrointestinal tract, tears, saliva, mucus, and colostrum; important in local immunity. |
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Term
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Definition
| Protects the body in mucus membranes and skin; triggers allergic reactions. |
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Term
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Definition
| Present in blood serum (in small amounts) and B cell surfaces; receptor for antigens; helps anchor cell membranes. |
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Term
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Definition
| Pathogens enter the body and cause illness; antibodies form. (memory)ex:person has rubella once |
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Term
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Definition
| Vaccine is injected into the body, antibodies form. |
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Term
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Definition
| Antibodies are passed directly from mother to child to provide temporary protection. (no memory) |
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Term
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Definition
| Antibodies are injected into the body (antiserum) to provide temporary protection or to minimize severity of an infection. (no memory) |
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Term
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Definition
| an inflated or inappropriate response to an antigen. The result is inflammation and destruction of healthy tissue. |
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Term
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Definition
| allergens activate T cells which bind to mast cells. Repeated exposure to large doses of the allergen is usually necessary to cause this response. |
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Term
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Definition
| the destruction of a target cell by an antibody-directed, cell surface antigen. Reactions include cell lysis and phagocytosis. Examples include blood transfusions. |
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Term
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Definition
| Circulating antigen-antibody complexes accumulate and are deposited in the tissue. Common tissues include kidneys, joints, skin, and blood vessels. This accumulation triggers the complement system causing local inflammation and increased vascular permeability ex. systemic lupus erythematosus. |
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Term
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Definition
| involves a delayed processing of the antigen by the macrophages. Once processed the antigen is presented to the T cells, resulting in the release of lymphokines that cause inflammation and antigen destruction. Ex. tuberculin skin testing, transplant reactions, and contact dermatitis. |
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Term
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Definition
| the body's normal defenses become self-destructive--- recognizing self as foreign. |
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Term
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Definition
| a diminished or absent immune response increases susceptibility to infections. |
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Term
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Definition
| basic developmental failures, many resulting from genetic or congenital abnormalties |
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Term
| secondary or acquired immunodeficiency |
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Definition
| a loss of immune function because of specific cause. |
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Term
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Definition
| infections caused by pathogensthat do not normally cause disease in healthy individuals. |
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