A pathological condition of the body in response to an alteration in the normal body harmony
the condition of a person who is experiencing a disease
known by its medical classification and distinguishing features.
a condition or situation that may make a person more at risk or susceptible to disease.
name some predisposing factors
a trait inherited from a parent puts an individual at risk for certain diseases
a risk factor related to the life cycle
a predisposing factor when the disease is physiologically based (ie prostate cancer in men or ovarian cancer in women)
"exposure to air, noise, and other environmental pollutanta may predispose individuals to disease"
smoking and exposure to secondhand smoke; sustance abuse; poor nutritional choices; lack of exercise
a basic unit of heredity consisting of a fixed segment of the DNA
- 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."
- a description of the combination of a person's genes (single or larger traits)
- inherited from one's parents
physical traits are an expression of
a pair of genes
- identical genes from each parent for a particular trait
- both moninant
- both recessive (recessive genes are only homozygous; never heterozygous)
- diffent genes from each parent
- one gene dominant/ one recessive
- recessive genes are never heterozygous
- may cause disturbances in body funcitons
- occur when the normal sequence of DNA unit is disrupted
- causes are largely unknown
genetic diseases are a result of:
- monogenic (Mendelian) alterations
- chromosome aberrations
- multifactorial errors
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"
types of Monogenic Alterations
- Autosomal dominant
- Autosomal recessive
- X- or Sex-linked
- 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"
Examples of autosomal dominant diseases
- Huntington disease (causes degeneration of brain neurons)
- Reinoblastoma (rare eye tumor in the retina)
- 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"
- 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
- 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
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
- resistant to the vitamin D treatment usually given for rickets
- deficient amount of mineral in the cartilage growth plates
- affects the way the brain develops
- most frequently in girls
- symptoms similar to autism
Recessive X-linked diseases
- occurs when both the gene pairs are abnormal
- ie: Hemophilia; Duchenne muscular dystrophy
- "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"
- 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"
- "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
- "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
- an add'l X chromosome in males
- "male body shape: elongated, testes are small, mammary glands abnormally large, generally do not produce sperm"
- 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."
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
- "result from the interaction of many factors, both hereditary (mutations in multiple genes) and environmental"
- Diabetes mellitus; Congenital heart abnomalies
- "disorder of carbohydrate, fat and protein metabolism"
- due primarly to insufficient insulin product by the pancreas
Congenital heart anomalies
"includes 6 major anatomic defects that change the flow of blood through the heart, causing circulatory problems."
- "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)"
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
- the invasion and multiplication of pathogenic or disease producing microorganisms in the body
- "6 groups: fungi, rickettsiae, protozoa, viruses, bacteria and parasites"
- "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)"
- 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"
- single-celled organisms
- "Malaria, amebic dysentery, African sleeping sickness, trichomonas vaginalis"
- "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"
- single-celled organisms
- most are non-pathogenic and useful
- bacteria are classified according to their shape
- rod shaped bacteria
- "tuberculosis, whooping cough, tetanus, typhoid fever and diphtheria"
- spiral shaped bacteria
- "syphilis, cholera"
- cot shaped bacteria
- "gonorrhea, meningitis, tonsillitis, bacterial pneumonia, boil, scarlet fever, sore throats, and certain skin and urinary infections"
- host-requiring organisms; include both internal and external parasites
- "external: lice, mites"
- "internal: helminthes (pinworms, tapeworms, flukes)"
- small thread size; about the size of a staple
- often live in the human colon and rectum
- 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
- "small, leaf-shaped, flat, non-segmented "
- "occurs when eating uncooked fish, plants or animals from water infested with flukes"
fifth leading cause of death in the US
- cerebral contusion
- "skull, nose and jaw fractures"
- perforated eardrum
- Penetrating chest injuries (knife & gunshot wounds)
- Non-penetrating chest injuries (rib fractures)
- "hemorrhages within the liver, spleen, pancreas and kidneys"
- "rupture of the stomach, intestine, gall bladder and urinary bladder"
Neck & Spine Trauma
- compressions of the vertebral column
- fractures to arms & legs
Physical and Chemical Agents
- extreme heat & cold
- ionizing radiation
- extremes of atmospheric pressure
- electric shock
- "bites of insects, spiders and snakes"
- syncope (transient loss of consciousness)
- heat exhaustion
- insufficient water and salt intake
- overexposure to heat
- skin is pale and clammy
- "rapid weak pulse, shallow breathing"
- "treatment: rest, cooling, weak salty liquids"
- 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"
- 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
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
- "natural (lightning); contrived (carelessness, faulty equip)"
- must separate person from electrical source
- "treatment: begin immediately; could need CPR, hospitalization"
- "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)
- 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"
"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
- 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"
- "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
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
Immune-related factors in disease
- natural or genetic immunity
- active or acquired immunity