2022-01-30T00:40:18+03:00[Europe/Moscow] en true Cellular Functions, Nucleus, Ribosomes, Endoplastmic reticulum, Golgi Complex, lysosomes, Peroxisomes, Mitochondria, Plasma membrane, Cell membrane, Diffusion, osmosis, Active transport, Cell communication, Neurotransmitter, Gap Junctions, Chemotaxis, Cellular Metabolism, Sodium Potassium ATPase, Cell Cycle, <p>Phagocytosis</p>, Macrophage, Apoptosis, <p>Epithelial cells</p>, Neurons, Myelin Sheath, Myoctes, Connective tissue, Adipocytes, Germ Cells, Atrophy, Hypertrophy, Hyperplasia, Metaplasia, dysplasia, Hypoxia, Ischemia, <p>Perfusion pressure</p>, coronary perfusion, Anoxia, Reactive oxygen species, Physical agents causing cellular injury, Necrosis, Reperfusion injury, Cellular hypoxia, Antioxidants, Poisoning/oxidative stress, Hemochromatosis, Accumulations, Systemic manifestations of cellular injury, Aging and cellular injury, Renal funciton and age, CALERIE Study, Reservatrol, Gene locuses, Telomeres, Transcription DNA > mRNA, Genotype, Phenotype, <p>Transmission of genetic disease</p>, Penetrance, Cytogenetics, Pedigree or genogram, Maternal screening for genetic diseases, Cystic Fibrosis, Sickle Cell Disease, Marfan Syndrome, Phenylketonuria, Tay Sachs disease, Trisomy 21 - Down Syndrome, Huntington's disease, Hypertension and Heart Failure, Sudden Cardiac Death, Oncogenesis, <p>Progeny</p>, <p>Chromosomes</p>, <p>Gene</p>, <p>allele</p>, <p>homozygous</p>, <p>heterozygous</p>, <p>genotype</p>, <p>karyotype</p>, <p>phenotype</p>, <p>translocation</p>, <p>single nucleotide poly-morphisms (SNP)</p> flashcards
Pathophysiology Lecture 1

Pathophysiology Lecture 1

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  • Cellular Functions
    Movement Conductivity Metabolic absorption Secretion Excretion Respiration Reproduction Communication
  • Nucleus
    "brain of the cell" contains chromosomes made up of double helix wrapped DNA. It is where information is stored for making proteins which are the basis of life
  • Ribosomes
    Cytoplasmic organelle that site of the cell where messenger RNA and transport are RNA are bound and made into proteins
  • Endoplastmic reticulum
    Cytoplasmic organelle that contains ribosomes. The rough ER is where ribosomes are found
  • Golgi Complex
    Packages made protein and sends it off to other cells
  • lysosomes
    membrane bound cell organelle that contains enzymes and digest other proteins like bacterias and viruses
  • Peroxisomes
    membrane bound organelles that contain enzymes that oxidate chemicals, materials, or proteins they come in contact with
  • Mitochondria
    Membrane bound organelle that is the power house of the cell. ATP is made here which is energy
  • Plasma membrane
    phospholipid bilayer that allows fat soluble materials to readily pass through. It has protein channels that allow certain ions and materials to cross through alongside receptors that allow chemicals to attath to it and act as a second messenger within the cell. 
  • Cell membrane
    Provides boundaries, controls traffic, and is semi-permeanble and packaging material and sending it away through exocytosis or recieving it through endocytosis
  • Diffusion
    movement of material down its concentration gradient from a place of high concentration to low concentration. Urea and ethanol cross , water sometimes, charged ions such as sodium potassium and bicarbonate dont cross. Large charge and uncharged molecules don't cross
  • osmosis
    movement of water down its concentration gradient. From Higher concentration of water where solute is less dilute, to where there is less water. 
  • Active transport
    Atp fueled action to get ions into cell. Sodium potassium pump is a common example. 
  • Cell communication
    cells release a signaling molecule that attaches to a receptor and attaches to a cell nearby
  • Neurotransmitter
    Presynaptic release transmitter that attaches to a postsynaptic cell
  • Gap Junctions
    Signaling continues form propagated action from the previous cell
  • Chemotaxis
    cells being attracted to a site by a given chemical. Neutrophils are attracted to sites of infection because they are the primary white blood cell so they help treat it. 
  • Cellular Metabolism

    primarily production of ATP and mitochondria in the presence of oxygen. Absence of oxygen means less ATP

  • Sodium Potassium ATPase
    Energy dependent pump in the plasma membrane that pushes sodium ions out of the cell and potassium ions into the cell. If there is a low state of oxygen less ATP is produced so sodium collects inside the cell. Water and sodium go hand in hand so as sodium collects so does water leading to cell swelling. Called intracellular edema.
  • Cell Cycle
    In eukaryotes, the cell cycle consists of four discrete phases: G1, S, G2, and M. The S or synthesis phase is when DNA replication occurs, and the M or mitosis phase is when the cell actually divides. The other two phases — G1 and G2, the so-called gap phases — are less dramatic but equally important. During G1, the cell conducts a series of checks before entering the S phase. Later, during G2, the cell similarly checks its readiness to proceed to mitosis.

  • Phagocytosis

    Neutrophils coming in and engulfing a foreign body and destroying it
  • Macrophage
    Travel throughouth the body between cells eliminating unwanted cell bodies
  • Apoptosis
    programmed cell death that occurs after a number of replications or activities within the cell

  • Epithelial cells

    Epithelial cells are a type of cell that lines the surfaces of your body. Microvilli.
  • Neurons
    Dendrites that receive messages. The cell body is in control of the neuron and the axon carries messages to the next cell.
  • Myelin Sheath
    Cover of sorth providing insulation to a neuron to decrease resistance to current flow. It increases the speed of transmission
  • Myoctes
    Muscle cells
  • Connective tissue
    Elastin, collagen, osteoblasts. They provide structure. 
  • Adipocytes
    fat cells, children will create more fat cells while adults fat cells will increase in size. 
  • Germ Cells
    Egg and sperm Cells
  • Atrophy
    Shrinking of cells. Could be pathological or from disuse. When many cells shrink entire organs shrink.
  • Hypertrophy
    Cells grow larger than normal. This is related in cellular components not fluid
  • Hyperplasia
    Increase in the number of cells. It could be compensatory or hormonal. 
  • Metaplasia
    Increase in the number of cell and some disorganization
  • dysplasia
    Significant disorganizaiton of cells. It doesn't indicate cancer but it could progress there. 
  • Hypoxia
    Intracellular collection of sodium and water. 
  • Ischemia
    decrease or reduced blood supply leading to blood flow obstruction

  • Perfusion pressure

    Perfusion pressure is defined as MAP minus central venous pressure (CVP) or MAP minus intra-abdominal pressure (IAP). perfusion pressure of any vascular bloodd is mean blood pressure minus resistance to blood flow. So cerebral perfusion pressure is Mean Systemic BP-InterCranial P (or Central Venous P)
  • coronary perfusion
    Heart muscle only gets blood only during diastole when the ventricles contract aortic valve opens and the two leaflets as they open cover the openings of coronary arteries. until going into diastole its diastolic pressure that perfuses coronary arteries
  • Anoxia
    Total lack of oxygen someone isn't breathing or a large blood clot like pulmonary embolus
  • Reactive oxygen species
    Oxidants and intracellular peroxide
  • Physical agents causing cellular injury
    temperature, radiation, illumination, noise, toxic chemicals
  • Necrosis
    gangrene. Death of cells due to a lack of blood flow being cut off. Example: blood flow is cut off to the toes so they eventually die. 
  • Reperfusion injury
    When tissue has limited or blocked blood supply and blood begins to go through it again this causes oxidative stress. This causes further membrane damage and mitochondrial calcium overload. Expected when perfusion is reestablished. 
  • Cellular hypoxia
    Disease and disorders linked to oxygen-derived free readicals. Atherosclerosis, dementian, cancer, diabetes, infalmatory disorders, emphysema. Diets with fruits and vegetables with lots of antioxidants help prevent oxidative stress
  • Antioxidants
    React with oxidants and eliminate free radicals in the body. Vitamin C and Vitamin E are classics. 
  • Poisoning/oxidative stress
    adults who consume 4000mg of acetaminiophen a day in combination with ethanol exceeds the ability of the liver to buffer it. 
  • Hemochromatosis
    abnormal accumulation of heme molecule in the body especially the liver, heart, and pancreas. 
  • Accumulations
    Accumulating too much, fat, glycogen, proteins, pigments, calcium, and uric acid can lead to problems
  • Systemic manifestations of cellular injury
    fever increased heart rate increase in leukocytes pain presence of cellular enzymes lactate levels aging
  • Aging and cellular injury
    Telomere length shortens on the ends of chromosomes. Every time a cell reproduces it chops a little off until it is unable to reproduce. Additionally oxidative stress and stress in general leads to aging. Hormone loss also leads to aging. 
  • Renal funciton and age
    decreases due to a smaller number of cells in the kidney 40% of kidney mass is loss by age 80. Glomeruli decreases and renal blood flow decreases.
  • CALERIE Study
    comprehensive assessment of longterm effective decrease of intake of energy. Eat less. After 1 year lower fasting blood glucose, low body temperatur, low body weight, low body fat Better functioning mitochondria and reduced DNA damage Could be due to a brain derived neurotrophic factor
  • Reservatrol
    Found in grapes, wine and nuts. Increases of SIRT1 pathway sirtuin. prevents agea and obesity related decline in heart function. 
  • Gene locuses
    specific physical location of a gene on a chromosome. First number is chromsome, first letter is leg, second number is location
  • Telomeres
    seal the end of chromosomes. Gets shorter with every reproduction of the cell
  • Transcription DNA > mRNA
    mRNA goes to ribosomes so a protein can be made in ribsomes, packaged by the golgi apparatus and sent into the body
  • Genotype
    inherited information encoded in the DNA
  • Phenotype
    observable expression of the genotype

  • Transmission of genetic disease

    chromsomal abnormalities sinclude nucleotide polymorphisms multifactorial inheritance
  • Penetrance
    percent of those with a specific genotype that also exhibit the phenotype
  • Cytogenetics
    Chromsomal disorders. Trisomy. 
  • Pedigree or genogram
    family history
  • Maternal screening for genetic diseases
    chorionic villus sampling amniocentesis percutaneious umbilical cord blood sampling
  • Cystic Fibrosis

    involves sodium movement one sit of mutation in large molecule that spans plasma membrane 1500 named mutations in CF gene 5T allele (UNC, 1997) found in 10% of population increased risk of chronic lung and sinus infections and male infertility 70% who have clinical CF have a deletion mutation out of a quarter million base pairs three are missing results in omitting 1 of 1480 amino acids

  • Sickle Cell Disease
    found amongst people who’s ancestors grew up along equator and from central africa evolutionary advantage in Africa. Prevents malaria HbSS and HbSC (S is abnormal) sickling crisis can be caused by trauma stress infection  leads to clumping of sickle shaped cells in small blood vessels leading to ischemia and significant pain  sickle cells die early promising treatments coming to bear
  • Marfan Syndrome
    very tall long fingers long feet Abe Lincoln might have had it 1 in 10000 75% have an affected parent, 25% are r/t sporadic mutation  Muation in gene that codes for fibrillar, major building block of microfibrils structural component of aorta, heart valves, airways, dura matter, etc. Seen with aneurysms throughout body in routinely for surgery
  • Phenylketonuria
    affects 1 in 10000 caucasians in US highest percent of people with it are from turkey lowest are from finland and turkey highest group is Roma inability to process certain kinds of food phenylalanine aspartame all infants tested People who have this and are fed phenylalanine develop sever neurologic problems
  • Tay Sachs disease
    deafness blindness decreased muscle tone seizures increased startle response paralysis or loss of muscle function delayed mental and social development problem of lysosomal storage disease prevalent among Ashkenzai Jews 1 in 30 Ganglioside accumulates causing progressive destruction of neurons and brain cells child looks normal until six months old death occurs by 3 years old
  • Trisomy 21 - Down Syndrome

    lots of characteristics broad face slanted eyes short broad hands slanted fingers growth failure mental retardation varies dramatically congenital heart disease Multiple organ system problems developmental issues vary 80% have IQ in 25-50 range 20% have normal or near normal IQ can be independent Congenital heart defects are common Esophageal and intestinal complications are also common

  • Huntington's disease
    adult ones, autosomal dominant disorder with degeneration of neurons in the basal ganglia and cortex movement and cognition Onset 35-44 years death 51 to 57 years May not know they have it until they have children  Children have a 50% chance of getting it   Due to reapeats of CAG codon, repeats increase with each generation symptomatic with 36 or more repeats
  • Hypertension and Heart Failure
    variation in allele on chromosome 17 that codes for angiotensin converting enzyme can either have inclusion or deletion allele get one copy from each chromosome don’t have an autosomal dominant effect I/I allele has low level of angiotensin converting enzyme if they have less enzyme to begin with inhibiting it won’t have an effect those who have I/I or I/D live longer if they have heart failure
  • Sudden Cardiac Death
    five different genes with long QT syndrome  genes for sodium and potassium channels Catecholaminergic polymorphic ventricular tachycardia people were sent home with this in the 70s and put on medications only to die because the medications in the long term played into the genetic differences they had Host of variations for sudden cardiac death 11, 21, 7, 21 again, 3  chromosomes
  • Oncogenesis
    development and predisposition to breast, ovarian, colon, and prostate cancer

  • Progeny

    a descendant or offspring

  • Chromosomes

    a threadlike structure of nucleic acids and protein found in the nucleus of most living cells, carrying genetic information in the form of genes.

  • Gene

    Basic units of heredity. a specific arrangement of nucleotide bases, which carry a code for constructing proteins.

  • allele

    one of two or more alternative forms of a gene that arise by mutation and are found at the same place on a chromosome.

  • homozygous

    having two identical alleles of a particular gene or genes.

  • heterozygous

    having two different alleles of a particular gene or genes.

  • genotype

    the genetic constitution of an individual organism.

  • karyotype

    a picture of the chromosomes that are contained within the DNA of a species. contains 23 pairs of chromosomes.

  • phenotype

    the set of observable characteristics of an individual resulting from the interaction of its genotype with the environment

  • translocation

    In genetics, a phenomenon that results in unusual rearrangement of chromosomes. This includes balanced and unbalanced.

  • single nucleotide poly-morphisms (SNP)

    These are changes in one nucleotide of a gene sequence.