Exam 1 Blueprint

• Structure and function of the components of the cell

  • Diffusion: moves from high to low concentration

  • Facilitated diffusion: allows glucose to enter body cells

  • Osmosis: is moved from low concentration to high concentration

  • Glycolysis: The breakdown of glucose by cells that do not need oxygen, releasing pyruvic acid and energy

  • Active Transport: Needs ATP to move against concentration gradient

  • Passive Transport: Does not need ATP to move against the concentration gradient

  • Anaerobic: Doesn’t need oxygen to break down stored nutrients to produce ATP

  • Aerobic: Needs oxygen to break down stored nutrients to produce ATP

  • Mitochondria:

    • ATP production

    • Varying number in each cell

    • Self-replicating

    • DNA inherited from the mother

  • Ligands: First messengers, move directly across the membrane to bind to the intracellular receptor

  • Ribosomes: Cell’s factories, translate RNA into proteins

  • DNA: composed of four nitrogen bases, a phosphate molecule, and deoxyribose (a sugar)

  • Metabolism

    • Processes by which fats, protein, and carbs from foods we eat are converted into energy in the form of ATP

  • Catabolism

    • Consists of breaking down stored nutrients to produce ATP

  • Anabolism

    • Is a constructive process in which more complex molecules are formed from simpler ones

  • Cell membrane

    • Made of lipids and proteins

    • Separates intracellular from extracellular

    • Gives the cell selective permeability

  • Cytoskeleton

    • Gives structure to the cell

    • Made of microtubules (cilia and flagella, transports materials) and microfilaments (aid in contraction of our muscles)

• Signal Transduction: Is the pathway for cell communication from the receptor to the cell

  • Autocrine- a cell releases a chemical into the extracellular fluid affects its own activity

  • Paracrine: acts on nearby cells

  • Endocrine: relies on hormones carried in the bloodstream to cells throughout the body

  • Synaptic: occurs in nervous system, when neurotransmitters act only on adjacent cells

• When does a mutation occur? What causes this- how is chromatin involved?

  • When DNA is duplicated, mutation can occur with a substitution of a base, or loss/addition of a base pair, or rearrangement

    • Substances that cause mutations are called mutagens

    • Caused by: chemicals, radiation, environmental changes, can be inherited

    • Endonucleases: DNA repair mechanism to correct, uses polymerase to fill the gap of DNA

    • Chromatin: Clusters of DNA and proteins in the nucleus of a cell that make up chromosome, must change its structure during DNA replication to prevent genetic abnormalities

• Where are genes located? Inside of every celusing only a portion of it based on function

• Intracellular Accumulation: is when the normal cells will accumulate abnormal amounts of substances that may harm the cell

  • Abnormal Endogenous Products: those that result from inborn errors of metabolism

  • Exogenous Products: environmental agents not broken down by cell

    • Ex: tattoos

    • In DNA that include the genetic information inherited from parents

• What are the causes of chromosomal disorders?

  • Problems with our chromosomes cause a major of our genetic diseases

    • Results in congenital malformation in our babies, intellectual disability, and 60 identifiable syndromes

    • Can be caused by a problem in chromosome structure (breakage/deletion of a chromosome) ex: radiation, infections

    • Can involve translocation of genetic material from one chromosome to another

• What are the type of disorders that babies are born with called?

  • Congenital Disorders

• What causes birth defects?

  • Genetic factors: single gene inheritance or chromosomal aberrations (down syndrome)

    • Environmental factors: infections, or drugs taken during pregnancy

    • Intrauterine factors(rare): positioning of fetal parts with the covering of the embryo, or fetal crowding

• Inherited Multifactorial Disorders

  • Caused by multiple genes and environmental factors

  • More than one factor that causes a health problem/deficit

  • Expressed; Clubfoot, congenital heart disease, Urinary tract malformation

• Alteration in Sex Chromosome Number

  • Nondisjunction: Failure to separate chromosomes

  • Monosomy: Presence of one of the sex chromosome pair

  • Monosomy X (Turner Syndrome): In women only, child will be infertile, short, web necked

  • Polysomy: Presence of 2+ chromosomes to a set of germ cells

  • Polysomy X (Klinefelter Syndrome): Males have an extra X chromosome, more female than male characteristics

    • Inability to produce sperm, enlarged breast tissue

• Mitochondrial Gene Disorders

  • Can be caused by changes in the mitochondrial DNA/ nuclear DNA that has led to dysfunction of the mitochondria

  • Disorders of mitochondrial genes interfere with production of cellular energy

  • Without normally functioning DNA, our body does not have enough energy to carry out our normal functions

  • Only inherited maternally

  • Commonly associated with neuromuscular disorders

• Single gene disorders

  • Autosomal dominant: single mutant allele transmitted to offspring

    • Phenotype is seen in the homozygous or heterozygous genotype

      • Marfan Syndrome

      • Neurofibromatosis

  • Autosomal recessive: When the parents have the effected gene, only carriers, phenotype is only seen in the homozygous recessive genotype

    • PKU- rare metabolic disorder

      • Tay- Sachs disease

  • X-linked recessive

    • Almost always associated with the X-chromosome and predominantly recessive

      • Fragile X Syndrome

• Exemplar: Down Syndrome

  • Most trisomy’s are severe and don’t live past 1 year except Down Syndrome (Trisomy 21) which is the most common Trisomy- m

    • Caused by having deficient genetic material from chromosome 21

  • Risk factors

    • Women over 35, increases risk with age

  • Clinical Manifestations

    • Small square head and flat facial profile

    • Upward slanting of the eyes

    • Short stubby hands

    • Small nose with depressed ridge, small ridge, small folds on inner corner of eyes

• DNA base pairs and what goes together

  • Thymine with Adenine

    • Cytosine with Guanine

• Progeny: means the offspring of a living thing

• Genotype: Refers to the genetic makeup of a person

• Mendel Laws

  • A diploid individual possesses a pair of alleles for any particular trait and each parent passes one of these randomly to its offspring

    • Homozygous: an organism which has both copies of the sane allele RR (dominant) or rr (recessive)

    • Heterozygous: of an organism with 2 different alleles, Rr

• Cytogenetics

  • The study of the structure and numeric characteristics of the cell’s chromosomes

• Karyotyping

  • The chromosomal appearance, ordered display based on length and location

• MRNA

  • Sets up how protein synthesis will take place, by a process called transcription

• RRNA

  • Physical structure in the cytoplasm where protein synthesis takes place

  • Occurs in the nucleolus

• TRNA

  • Clover shaped molecule that helps deliver activated form of amino acid to protein molecule in the ribosome

• Teratogenic agents:

  • Produce abnormalities during embryonic or fetal development(due to radiation, chemicals, drugs, infectious agents)

    • Most susceptible to these agents during organogenesis (when organs are being formed in the womb)

• Epithelial Tissue

  • Description: Forms the covering of body surfaces, lines the hollow organs, and are the major tissue and glands

  • Classification: According to the number of layers (simple, stratifies, pseudostratified) and shape (squamous, cuboidal, columnar)

  • Function: Protection, absorption, secretion, diffusion, excretion, filtration, sensory reception

• Connective Supportive Tissue

  • Description: Most abundant tissue, forms our bones and skeletal system, joints, blood, and intracellular substances

  • Classification: Areolar, Adipose, Dense Connective

  • Function: Bind and support, store fuel, transport substances, insulate, protect

• Muscle Tissue

  • Description: Actin and myosin filaments

  • Types: Cardiac muscle (contracts heart for blood flow)

    • Smooth muscle: forms the organs and changes to facilitate functions of the body

    • Skeletal muscle: moves bones and other structures

• Nervous Tissue

  • Description: provides the means of body functions, and sensing and moving about the environment

  • Types:

    • Neurons: nerve cells that function around communication

    • Neuroglia: these help support and keep neurons together

• Extracellular Matrix

  • Consists of extracellular macromolecules and minerals

  • Helps cells bind together and regulate differentiation, adhesion, and proliferation

• ABC’s of nursing priorities

  • AIRWAY

  • BREATHING

  • CIRCULATION

• Exemplar: Cancer

  • Tissue biopsy and screening

    • Screening is a secondary prevention measure, best way to diagnose cancer early on

      • This includes checking on a mole, and pap smears

    • Tissue biopsy (also including blood tests, CT scans, MRI) is done when you may be suspecting cancer and staging it

    • Done through ultrasounds and Xray

  • Describe cancer cells

    • Caused by mutations of DNA within cells

    • Can be Hereditary or a genetic mutation after birth (due to poor diet, smoking, obesity, etc.)

  • How cancer spreads

    • Adhesion: cancer cells fail to make this adhesion and float away infecting the rest of the body

    • Metastasis(spreading): travel to other regions of the body

    • Unregulated growth, undifferentiated (immature cancer cells), don’t listen to neighboring cells to stop growing when nearing tissue

  • Malignant vs benign

    • A benign Tumor is composed of cells that are not cancerous and won’t spread

      • Contained by fibrous capsule that doesn’t invade nearby tissue

    • A Malignant Tumor is composed of cells that are cancerous and can spread to other tissues and organs

      • Very invasive, grows rapidly, invades nearby tissues through the lymph channels and blood vessels

What type of tumors invade surrounding tissues and can be spread through the lymph channels and blood vessels?

• Malignant Tumor

  • Metaplasia

    • Goes from one cell type to another type

    • Substitutes cells that are not typical to organ tissue

    • Ex: when smoking, squamous cells can withstand damage better

  • Dysplasia

    • Deranged cell growth varying in shape/size

    • Precursor to cancer

    • Ex: cervical dysplasia- cells in this area can turn cancerous

  • Hypertrophy

    • Increased cell and tissue size due to increased work demands

    • Can be physiologic (working out) or pathologic (myocardial hypertrophy- heart muscle thickens and stops blood flow)

  • Hypoplasia

    • Increased number of cells in an organ or tissue

    • Physiologic (hormonal or compensatory- for example, pregnancy increases breast tissue) or pathologic (excessive hormones or growth factors- for example, when removing a part of an organ, it regenerates)

  • Necrosis

    • Refers to cell death in an organ or tissue that is still part of a living person

    • Characterized by swelling, rupture, inflammation of cell membrane

    • Triggers the inflammatory response

    • Interferes with cell replacement and tissue regeneration

    • Leads to patient getting Gangrene which occurs when a large mass of tissue undergoes necrosis

  • Apoptosis

    • Highly selective process

    • Gets rid of old and damaged cells

    • Helps new tissue/cells regenerate

    • Makes our cells shrink, condense, break apart-> then engulfed by a phagocytic cell

  • Atrophy

    • Cells decrease to a smaller size in order to work more efficiently

    • Reduce oxygen level intake and organelles that are functioning

    • Caused by

      • Disuse- when you stop exercising, or break a bone in your arm and stop using your arm for awhile

      • Denervation- caused by peripheral neuropathy and motor neurons diseases(paralyzed)

      • Loss of endocrine stimulation (ex: menopause causes shrinking of breast tissue)

      • Inadequate nutrition

      • Ischemia- decreased blood flow

• What is pyrexia?

  • Is another word for Fever

  • Raised body temperature

  • Cytokine release that increases the set temp in the hypothalamus to kill the bacteria

• What part of the brain and which organ /s are responsible for temperature regulation in the body?

  • Hypothalamus

• Fevers vs hyperthermia

• 4 stages of a fever

  • Prodromal stage: Pathogen enters cell and releases cytokines to the hypothalamus

    • Second stage: Chill stage/shivering in order to generate heat

    • Third stage: When the shivering stops we get super warm and appear flushed once the body starts releasing the heat

    • Defervescence: Heat is released through the sweat signaling the end of the fever and body temperature goes back to normal

• Types of Fevers

  • Intermittent: Fever that fluctuates throughout the day

  • Remittent: Fever stays predominantly high with small fluctuations

  • Sustained: High fever that stays up throughout the day

  • Relapsing: Fever that starts high that normalized until it sky rockets by the end of the day

• Hypothermia

  • When body loses heat faster than it produces it causing a drastic drop in body temperature

    • Heart and organs can’t work at such low temperatures causing vasoconstriction

    • Because blood flow stops, oxygen stops reaching these vital organs leading to Hypoxia-> leading to frostbite and that tissue dies

• Mechanisms of Heat Loss

  • Radiation: transfer of heat through an air vaccum, ex: heat form the sun

    • Conduction: Transfer of heat from one molecule to another, ex: using a cold towel when you have a fever

    • Convection: heat transfer through circulation of air

    • Evaporation: using the body heat to change the water on skin to vapor, ex: sweat

• Mechanisms of Heat Production

  • Metabolism

• Causes of muscle atrophy

  • Can occur due to malnutrition, age, genetics, a lack of physical activity, or other medical conditions

  • Muscle will shrink after exercise is discontinued

  • Can be caused by Disuse when you don’t use your muscles enough

• What causes frostbite?

  • Caused by the cut off of blood flow to the tissue and dies

  • Due to exposure to extreme cold weather conditions

• Vasodilation

  • Needed when the core temperature is too hot, Dilation of the blood capillaries near the skin to release the heat in order to cool down

    • Deeper vessels constrict to keep heat by the vital organs

• Vasoconstriction

  • Increases core temperature when too cold by constricting of the blood flows through the capillaries on the surface of the skin to conserve heat

    • Deeper vessels are going to dilate

    • Includes shivering, goosebumps

Pathologic Calcifications

• Abnormal deposition of calcium salts in the tissue other than osteoid or enamel

  • In addition small amounts of magnesium, iron, and other salts are also deposited

Dystrophic Calcification

• Calcification occurs in dead and degenerated tissues

  • Plasma calcium levels and phosphate levels are normal

Metastatic Calcification

• Calcification occurs in conditions where their hypercalcemia

  • Calcium from bone is moved out and deposited in the distant tissues