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Define Disease
A pathological condition of the body in response to an alteration in the normal body harmony
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Illness
the condition of a person who is experiencing a disease
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disease
known by its medical classification and distinguishing features.
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predisposing factor
a condition or situation that may make a person more at risk or susceptible to disease.
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name some predisposing factors
- heredity
- age
- gender
- environment
- lifestyle
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heredity
a trait inherited from a parent puts an individual at risk for certain diseases
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Age
a risk factor related to the life cycle
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gender
a predisposing factor when the disease is physiologically based (ie prostate cancer in men or ovarian cancer in women)
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environment
"exposure to air, noise, and other environmental pollutanta may predispose individuals to disease"
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lifestyle choices
smoking and exposure to secondhand smoke; sustance abuse; poor nutritional choices; lack of exercise
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gene
a basic unit of heredity consisting of a fixed segment of the DNA
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phenotype
- observable physical characteristics
- determined by a combination of genetic makeup and environmental factors
- "color and texture of the hair, shape of the nose, height, etc."
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genotype
- a description of the combination of a person's genes (single or larger traits)
- inherited from one's parents
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physical traits are an expression of
a pair of genes
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homozygous
- identical genes from each parent for a particular trait
- both moninant
- both recessive (recessive genes are only homozygous; never heterozygous)
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heterozygous
- diffent genes from each parent
- one gene dominant/ one recessive
- recessive genes are never heterozygous
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mutations
- may cause disturbances in body funcitons
- occur when the normal sequence of DNA unit is disrupted
- causes are largely unknown
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genetic diseases are a result of:
- monogenic (Mendelian) alterations
- chromosome aberrations
- multifactorial errors
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Monogenic (Mendelian) Alterations
- caused by mutation in a single gene
- "pattern of inheritance is determined by whether or not the gene is dominate, recessive or sex-linked"
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types of Monogenic Alterations
- Autosomal dominant
- Autosomal recessive
- X- or Sex-linked
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Autosomal Dominant
- only one abnormal gene from a parent is needed for a disease to be inherited
- "when one parent has the faulty gene, there is a 50% chance the offspring will have the defect"
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Examples of autosomal dominant diseases
- Huntington disease (causes degeneration of brain neurons)
- Reinoblastoma (rare eye tumor in the retina)
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Huntington Disease
- A disorder causing the degeneration fo brain neurons in certain areas of the brain
- "Symptoms: uncontrolled movements, emotional disturbances and mental deterioration/ symptons often do not develop until middle age"
- "Medication: Tetrabenazine (Xenazine); can reduce the jerky, involuntary movements by increasing dopamine"
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Retinoblastoma
- Rare eye tumor
- Symptoms: usually present at birth; tends to occur in both eyes; can spread to other areas of the body
- treatment is varied; partially dependent on the spread of the disease; may need to remove affected eye
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Autosomal Recessive
- must be 2 copies of the abnormal gene in order for the disease or trait to develop
- Examples: Cystic fibrosis; Tay-Sachs; Phenylketonuria (PKU); Sickle cell anemia
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X- or Sex-Linked Diseases
- occur when a single abnormal gene on the X chromosome can cause a disease
- only a few known dominant X-linked diseases; vitamin D resistant rickets and Rett Syndrome
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Rickets
- resistant to the vitamin D treatment usually given for rickets
- deficient amount of mineral in the cartilage growth plates
- osteomalacia
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Rett Syndrome
- affects the way the brain develops
- most frequently in girls
- symptoms similar to autism
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Recessive X-linked diseases
- occurs when both the gene pairs are abnormal
- ie: Hemophilia; Duchenne muscular dystrophy
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Cystic fibrosis
- "chronic, generalized disease of the glands that release their secretions into the digestive tract, the outer surface of the body or the exocrine glands"
- "primarily affects the pancrease, respiratory system and sweat glands"
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Tay-Sachs disease
- a rare lipid abnormality in which harmful amounts of fatty substances build up in the brain cells
- distinguish by progressive neurological deterioration and a cherry-red spot with a gray border on both retinas
- chiefly affects infants of eastern European Jewish (Ashkenazi) ancetry
- "results in deafness, blindness and paralysis; recurrent brochopneumonia after age 2; usually death by age 5"
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Phenylketonuria (PKU)
- "caused by an inability of metabolize phenylalanine, an essential amino acid"
- mental disability results unless a special diet begins within the first few weeks of life
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Chromosomal Disorders
- "caused by abnormalities in the number of chromosomes or by changes in the chromosomal structures (ie additions, deletions or translocations)"
- Klinefelter syndrome; Turner syndrome; Trisomy 21 or Down syndrome
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Klinefelter syndrome
- an add'l X chromosome in males
- "male body shape: elongated, testes are small, mammary glands abnormally large, generally do not produce sperm"
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Turner syndrome
- caused by the loss of or an incomlete X chromosome in either the ovum or the sperm
- affects firls
- "shortened stature; swollen hands and feet; and coarse, enlarged, prominent ears. Most are infertile."
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Trisomy 21 or Down syndrome
- an individual has 3 #21 chromosomes instead of the normal two.
- more like to occur in children born to parents ages 35-50
- "sloping forehead, folds of skin over the inner corners of their eyes; may have heart defects."
- generally show some evidence of moderate to severe mental disability
- one of the most common birth defects
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Multifactorial Disorders
- "result from the interaction of many factors, both hereditary (mutations in multiple genes) and environmental"
- Diabetes mellitus; Congenital heart abnomalies
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Diabetes mellitus
- "disorder of carbohydrate, fat and protein metabolism"
- due primarly to insufficient insulin product by the pancreas
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Congenital heart anomalies
"includes 6 major anatomic defects that change the flow of blood through the heart, causing circulatory problems."
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Inflammation
- "the body's immunologic response to tissue damage caused by the invasion of foreign bodies, microorganisms or harmful chemicals."
- "mary result from trauma, physical or chemical agents, allergens; disease producting organisms (pathogens)"
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inflammation can be acute or chronic
- "Acute: redness, swelling, pain, heat and maybe loss of function; large number of WBC's at the site."
- "Insect bites, mild burns and minor abrasions and cuts"
- "Chronic: increase in the # of lymphocytes, monocytes, and plasma cells"
- rheumatoid arthritis
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Infection
- the invasion and multiplication of pathogenic or disease producing microorganisms in the body
- "6 groups: fungi, rickettsiae, protozoa, viruses, bacteria and parasites"
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Fungi
- "yeasts and molds present in the soil, air and water"
- fungal diseases are called mycoses
- "develop slowly, resistant to treatment, rarely fatal"
- "histoplasmosis, coccidioidomycosis, thrush; tinea corporis (ringworm), tinea pedis (athlete's foot)"
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Rickettsiae
- bacteria-like organisms that live parasitically inside living cells
- "bites from infected lice, fleas, ticks, mosquitoes and mites"
- "Rocky Mountain spotted fever, typhus and trench fever; most like to occur where unsanitary conditions prevail"
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Protozoa
- single-celled organisms
- "Malaria, amebic dysentery, African sleeping sickness, trichomonas vaginalis"
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Viruses
- "smallest microorganisms, visible only thru the use of electron microscopy"
- "independent of host cells; difficult to isolate, few respond to drub therapy"
- may remain dormant in a host for long periods before becoming active.
- "common cold, West Nile virus, measles, mumps, rabies, chicken pox, herpesviruses, poliomyelitis, hepatitis, influenza and certain types of pneumonia and encephalitis"
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Bacteria
- single-celled organisms
- most are non-pathogenic and useful
- bacteria are classified according to their shape
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Bacilli
- rod shaped bacteria
- "tuberculosis, whooping cough, tetanus, typhoid fever and diphtheria"
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Spirilla
- spiral shaped bacteria
- "syphilis, cholera"
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Cocci
- cot shaped bacteria
- "gonorrhea, meningitis, tonsillitis, bacterial pneumonia, boil, scarlet fever, sore throats, and certain skin and urinary infections"
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Parasites
- host-requiring organisms; include both internal and external parasites
- "external: lice, mites"
- "internal: helminthes (pinworms, tapeworms, flukes)"
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pinworms
- small thread size; about the size of a staple
- often live in the human colon and rectum
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tapeworm
- long and narrow
- "depend on 2 hosts; one human, one animal (ie beef tapeworm, pork tapeworm)"
- occurs when raw or contaminated meet or fish is eaten
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Flukes
- "small, leaf-shaped, flat, non-segmented "
- "occurs when eating uncooked fish, plants or animals from water infested with flukes"
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Trauma
fifth leading cause of death in the US
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Head Trauma
- concussion
- cerebral contusion
- "skull, nose and jaw fractures"
- perforated eardrum
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Chest Trauma
- Penetrating chest injuries (knife & gunshot wounds)
- Non-penetrating chest injuries (rib fractures)
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Abdominopelvic Trauma
- "hemorrhages within the liver, spleen, pancreas and kidneys"
- "rupture of the stomach, intestine, gall bladder and urinary bladder"
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Neck & Spine Trauma
- fractures
- dislocations
- contusions
- compressions of the vertebral column
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Extremities Trauma
- sprains
- strains
- fractures to arms & legs
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Physical and Chemical Agents
- extreme heat & cold
- ionizing radiation
- extremes of atmospheric pressure
- electric shock
- poisoning
- near-drowning
- "bites of insects, spiders and snakes"
- asphyxiation
- burns
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Extreme Heat
- syncope (transient loss of consciousness)
- heat exhaustion
- heatstroke
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Heat exhaustion
- syncompe
- insufficient water and salt intake
- overexposure to heat
- skin is pale and clammy
- "rapid weak pulse, shallow breathing"
- "treatment: rest, cooling, weak salty liquids"
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Heatstroke
- the body's temp-control mechanism malfunctions
- sweating ceases and body temp rises
- "skin becomes hot, dry and flushed"
- "treatment: IV therapy, cooling therapy, increased fluid intake"
- "temp monitoring, muscle massaging"
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Ionizing Radiation
- mild skin burns -> fatal tissue distruction
- "may be via ingestion, inhalation or direct contact"
- occupational or accidental exposure
- misuse of radiation for diagnostic or treament purposes
- treatment: symptomatic & supportive
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Extremes of Atmospheric Pressure
- rapid change from a high-low or low-high pressure environment
- decompression sickness (deep sea divers/ airplane pilots)
- rapid escape of blood gases faster than can be diffused thru respiration
- treatment: emergency oxygen until person can get to a hyperbaric chamber
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Electric Shock
- "natural (lightning); contrived (carelessness, faulty equip)"
- must separate person from electrical source
- "treatment: begin immediately; could need CPR, hospitalization"
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Poisoning
- "accidentally ingested, inhaled, injected or absorbed thru the skin"
- occupational exposure
- "improper cooking, storage and canning of food"
- drug overdoses or abuse
- treatment: first aid measure; identifying & providing correct antidote (if avail)
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Near Drowning
- person generally aspirate fluid or have obstructed airway caused by a spasm of the larynx when gasping under water resulting in hypoxemia (insufficient oxygenation of the arterial blood
- "within minutes or days, person may experience respiratory distress"
- "treatment: critical; hospitalization for oxygenation, airway maintenance, observ of cardiovascular status and watch for further complications"
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"Bites of insects, spiders and snakes"
- must be treated quickly to prevent venom absorption
- treatment: immobilize and transport victim to a hospital for anti venom
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Asphyxiation
- lack of oxygen coupled with accumulating carbon dioxide in the blood
- "result of near-drowning, hypoventilation, airway obstruction or inhalation of toxic substances"
- "treatment: may involve removal of obstruction, CPR, oxygenation and intubation"
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Burns
- "classified by extent, depth, person's age and associated illness & injury"
- rule of nines; formula for determining the % of the body surface burned
- FIRST DEGREE - only the epidermis; ie mild sunburn
- "SECOND DEGREE (or partial thickness burns) - epidermis and part of the dermis; skin appears blishetered, red and may be swollen"
- "THIRD DEGREE (or full thickness burn) - destroys the epidermis and dermis layers of skin; may also damage underlying bones, muscles and tendons"
- skin appears white or charred; sensation is lost as nerve endings are destroyed
- treatment: required immediately for 2nd & 3rd degree burns; focus is on maintaining fluid balance and preventing infection
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Neoplasia and cancer
- Neoplasm - new and abnormal formation of tissue; can be in the form of a tumor or in blood cells
- can be benign or malignant
- cancer is a genl term for numerous diseases all characterized by the uncontrollable growth of cells
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Immune-related factors in disease
- natural or genetic immunity
- active or acquired immunity
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