Patho Test 1

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Patho Test 1
2014-02-05 23:05:52

Path Test 1 NUR MSJ
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  1. A variant of a class of lysosomal storage diseases known as the
    Tay-Sachs disease
  2. Pulling force created by molecules that cannot cross the cell membrane in the vascular space.
    Capillary colloidal osmotic pressure
  3. An early clinical manifestation of hemarthrosis as seen in hemophilia is:
  4. Term for a type of fluid compartment; an example is between the membrane covering the lungs or heart.
  5. These solutions cause fluid to move out of the vein and into the cells
  6. In which stage of carcinogenesis do normal cells undergo mutation in their genome making them susceptible to malignant transformation by a carcinogenic agent?
  7. Cells adapt to increased demands by changing in (3)
    • Size
    • Number
    • Form
  8. Cells adapt to increased demands by changing in –Size due to (3)
    • atrophy and
    • hypertrophy;
    • increased workload
  9. Cells adapt to increased demands by changing in Number due to (2)
    • hyperplasia;
    • increased workload
  10. Cells adapt to increased demands by changing in Number due to (1)
  11. change in cell type/form due to chronic inflammatory disease/dysfunction
  12. decrease in cell size
  13. increase in cell size
  14. increase in numberof cells
  15. replacement of adult cells
  16. deranged cell growth of a specific tissue
  17. Which of the following best describes the cellular adaptation seen in chronic cigarette smokers?





    a.Metaplasia: As cells are damaged, a hardier version replaces the normal strata of cells.
  18. Three Sources of Intracellular Accumulations (3)
    • Normal body substances
    • Abnormal endogenous products
    • Exogenous products
  19. Environmental  agents and pigments not broken down by the cell
    Exogenous products
  20. Lipids, proteins,carbohydrates, melanin, etc.
    Normal body substances
  21. Those resulting frominborn errors of metabolism
    Abnormal endogenous products–
  22. Abnormal tissue deposition of calcium salts, together with smaller amounts of iron, magnesium, and other minerals
    Pathologic Calcifications
  23. Pathologic Calcifications Types (2)
    • Dystrophic calcification
    • Metastatic calcification
  24. Dystrophic calcification:
    occurs in dead or dying tissue
  25. Metastatic calcification:
    occurs in normal tissue
  26. T/F Dystrophic calcification can result from prolonged ischemia.
    True:  Ischemia stresses the tissue, it dies, and calcium precipitates out of solution.
  27. Causes of Cell Injury (5)
    • Injury from physical agents
    • Radiation injury
    • Chemical injury
    • Injury from biologic agents
    • Injury from nutritional imbalances
  28. Injury from physical agents (3)
    • –Mechanical forces
    • –Extremes of temperature
    • –Electrical forces
  29. Radiation injury (3)
    • –Ionizing radiation
    • –Ultraviolet radiation
    • –Nonionizingradiation
  30. Chemical injury (4)
    • –Drugs
    • –Carbontetrachloride 
    • –Lead toxicity
    • –Mercury
  31. Injury from biologic agents (3)
    • Viruses
    • parasites,
    • bacteria
  32. Injury from nutritional imbalances (2)
    –Excesses and deficiencies
  33. Free radical and reactive oxygen species (ROS) formation
    Free radicals are highly reactive chemical species with anunpaired electron, which causes them to be unstable and highly reactive.
  34. Free radical injury (3)
    • –Lipidperoxidation 
    • –Oxidative modification of proteins
    • –DNAeffects
  35. Stresses Damage Cells By: (4)
    • Direct damage to proteins, membranes, DNA
    • ATP depletion
    • Free radical formation
    • Increasedintracellular calcium
  36. Hypoxic Cell Injury
    • Deprives cell of oxygen and interrupts oxidative metabolism and the generation of ATP: Acute
    • cellular swelling (edema)
  37. The longer tissue is hypoxic, the greater chance of ____ ____ ____.
    irreversible cellular injury.
  38. Causes of hypoxia
    • –Inadequate amount of oxygen in the air   
    • –Respiratory disease
    • –Inability of the cells to use oxygen 
    • –Edema
    • –Ischemia
  39. Stresses Damage Cells By:(4)
    • Direct damage to proteins, membranes, DNA
    • ATP depletion
    • Free radical formation
    • Increased intracellular calcium
  40. Cytosolic calcium levels are kept low by energetic mechanisms. (2)
    –Ischemia-inducedcalcium disruption–Inappropriateactivation of enzymes
  41. Reversible Cell Injury
    Impairs cell function but does not result in cell death
  42. Two patterns of reversible cell injury occur:
    • –Cellular swelling: 
    • –Fatty change:
  43. Cellular swelling:
    impairment of the energy-dependent Na+/K+ ATPasemembrane pump, usually as the result of hypoxic cell injury.
  44. Fatty change:
    linked to intracellular accumulationof fat
  45. Which of the following can result in membrane damage?

    a. Inactivation of Na+/K+ATPase
    b. Oxidation of phospholipid
    c. Ischemic activation of Ca2+-regulated
    d. All the above
    e. None of the above
    d.All the above: Each of these can result in membrane damage.
  46. Apoptosis
    • (fallen apart): equated with suicide
    • Programmed Cell Death
  47. Apoptosis eliminates cells that are: (4)
    • •Worn out
    • •Have been produced inexcess 
    • •Have developedimproperly 
    • Have genetic damage
  48. Necrosis:
    • –Refers to cell deathin an organ or in tissues that are still part of a living person
    • –Often interferes with cell replacement and tissue regeneration
    • –Gangrene occurs whena considerable mass of tissue undergoes necrosis
  49. The term ____ is applied when a considerable mass of
    tissue undergoes necrosis.
  50. The affected tissue becomes dry and shrinks, the skin wrinkles, and its color changes to dark brown or black. The spread of dry gangrene is slow
    Dry gangrene
  51. The affected area is cold, swollen, and pulseless. The skin is moist, black, and under tension. Blebs form on the surface, liquefaction occurs, and a foul odor is caused by bacterial action.

    –The spread of tissue damage is rapid.
    Wet gangrene
  52. is the study of body function.
  53. is the study of the body’s response to dysfunction or disease.›
  54. is the interruption, cessation, or disorder of a body system or organ structure.
  55. ____;Causes of disease are _____ factors, (biologic, physical forces, chemical agents,
    Etiology: etiological
  56. › sequenceof cellular/tissue events that take place from initial contact with etiologicalagent until disease expression
  57. structure or formof cells,
  58. gross anatomic & microscopic changes characteristic of a disease›
    Morphologic changes:
  59. the manifestations produced by a condition that make itevident that a person is sick, i.e. Fever (Structural and Functional changes are s/s)
    Clinical manifestations:
  60. a manifestation noted by an observer
  61. a subjectivecomplaint made by ta person with adisorder›
  62. A compilation of signs and symptoms›
  63. To designate thenature or cause of a health problem;
    Diagnosis: a diagnostic process›
  64. The evolution of a disease
    Clinical course:
  65. Etiologic Factors (Causes of Disease) (4)
    • Biologic agents (e.g., bacteria, viruses)
    • ›Physical forces (e.g., trauma, burns, radiation)
    • Chemical agents (e.g., poisons, alcohol, nicotene)
    • Nutritional excesses or deficits
  66. The study of disease occurrence in human populations
  67. Developed to explain the spread of infectious disease during epidemics, emerged as ascience to study risk factors of multifactorial diseases i.e. heart disease
  68. › look for patterns, characteristics (race, age,lifestyle, habits) in persons affected with a particular disorder
    Epidemiologic Studies
  69. are used in research studies to determine the naturalhistory of the disease, how it is spread, & how to prevent & control& eliminate it
    ›Epidemiologic Methods
  70. Factors Derived Using Epidemiologic Methods
    • How disease is spread
    • ›How to control disease
    • How to prevent disease
    • ›How to eliminate disease
  71. - the extent to which an observation, when repeated, gives the same result
  72. the extent to which a measurement tool    measures what it is intended to measure ›
  73. how well the test or observation identifies people with orwithout a disease,›
    Sensitivity and specificity-
  74. the proportion of people with a disease who testpositive on the test for that disease, “true positive” test,
  75. if a sensitive test is _____, means the disease has been excluded, or “ruled out”›
  76. proportion of people without a disease who test negative on the test for that disease, “true negative”
  77. extent, a value, to which an observation or test result is able to predict the presence (positive)or absence (negative)of a given disease or condition in a population
    ›Predictive value
  78. studies use the simultaneous collection of information necessary for classification of exposure and outcome status

  79. compare case subjects to control subjects›
    Case-control studies
  80. involve groups of people born at the time or who sharesome factor
    Cohort studies
  81. an existing case or the number of new episodes of a particular illness
    Disease case
  82. the number of new cases arising in a population at risk duringa specified time ›
  83. a measure of existing disease in a population at a given pointin time
  84. describes the effects of an illness on a person’s life, the effects on human functioning

    ›Concerned with the incidence, persistence, and long-term consequences of disease
  85. death producing characteristics of a disease; providesinformation about trends in the health of a population
  86. Used as a predictor of outcome for diseases for which there is no effective treatment (disease progression & projected outcome without medical intervention)
    Natural History of a Disease
  87. Information about the____ ____ _ _ ____  and the potential of effective treatment methods, services,  provides direction for preventive measures.
    natural history of a disease
  88. Primary Prevention
    (e.g., immunizations): removing risk factors so diseasedoes not occur
  89. SecondaryPrevention
    (e.g., Pap smears): detecting disease while it is stillcurable
  90. Tertiary Prevention
    (e.g., antibiotic use): preventing further deteriorationor reducing complications of disease once it has been diagnosed
  91. the conscientious, explicit, and judicious use of current best evidence in making decisions about the care of individual patients
    ›Evidence-based practice:
  92. Characteristics of the Cell Membrane (5)
    • a)Lipid bilayer
    • b)Transmembrane proteins
    • c)Peripheral proteins
    • d)Aquaporins
    • e)Receptors
  93. Cell Communication (5)
    • Gap junctions
    • Autocrine signaling
    • Paracrine signaling
    • Endocrine signaling
    • Synaptic signaling
  94. Types of Cell Receptors (4)
    • –Cell surface
    • –G-Protein linked
    • –Enzyme –linked
    • –Ion-channel- linked
  95. ATP and ADP
  96. –Citric acid cycle
    –Electron transportchain
    Aerobic metabolism
  97. Glycolysis
    Anaerobic metabolism
  98. The Basics of Cell Firing (9)
    • 1. Cells begin with a negative charge: resting membrane potential
    • 2.Stimulus causes some Na+ channels to open
    • 3.Na+ diffuses in, making the cell more positive
    • 4. At threshold potential, more Na+ channels open
    • 5. Na+ rushes in, making the cell very positive: depolarization
    • 6. Action potential: the cell responds (e.g., by contracting)
    • 7. K+ channels open
    • 8. K+ diffuses out, making the cell negative again: repolarization
    • 9. Na+/K+ ATPase removes the Na+ from the cell and pumps the K+ back in
  99. process whereby proliferating cells become progressively more specialized with each cell division, adult cell is fully differentiates, specific set of structure & function characteristics
    Cell differentiation:
  100. loss of cell differentiation
  101. Process of increasing cell numbers by mitotic cell division, normally regulated : cells
    dividing and forming =cells dying
    Cell Proliferation:
  102. proliferation increases,  but differentiation remains normal
    Benign neoplasms:
  103. both proliferationand differentiation increases (solid tumors & hematologic cancers)
    Malignant neoplasms
  104. malinant, pervasive tumor,has remained in site of origin, not crossed the basement membrane
    Carcinoma in situ:
  105. malignant cancercells break loose from primary site, travel to another location, form another neoplasm
  106. Cyclins (proteins), activate cyclin-dependent kinases (CDK’s) to ...
    they also ....., and are regulated by...  which ... to allow for ...
    • control the entry & progression of cells through the cell cycle;
    • synthesize degrade cyclin;
    • CDK inhibitors,
    • regulate the cell cycle
    • DNA replication repair
  107. an inherent mutation phenotype/genic instability in cancer cells (cc)
    Genetic Instability:
  108. ____ ____ ____ proliferate in absence GF
    Growth factor independence
  109. Loss of celldensity-dependent (contact) inhibition:
    do not stop growing when touch neighboring cells
  110. Loss of cohesiveness & adhesion
    lack of cohesiveness & adhesiveness, shed surface cells easily
  111. Loss of anchorage dependence
    independent, do not die when not attached to basement membrane/neighboring cells
  112. Faulty cell-to-cellcommunication
    changes in intercellular connections (gap Junctions) responsiveness to membrane signals
  113. Infinite cell lifespan
    immortality,unlimited lifespan
  114. Cancer cell characteristics (10)
    • Genetic Instability
    • Growth factor independence 
    • Loss of cell density-dependent (contact) inhibition 
    • Loss of cohesiveness & adhesion 
    • Loss of anchorage dependence 
    • Faulty cell-to-cell communication
    • Infinite cell lifespan 
    • Abnormal spread of degradative enzymes
    • Antigen Expression
    • Abnormal cytoskeletal characteristics
  115. metastatic spread & or ectopic hormone production
    Abnormal spread of degradative enzymes=
  116. synthesize& secrete enzymesto break down proteins, Seeding due to cell shedding, use of blood & lymphto travel, Rapid/Unlimited Growth Grow larger, own blood supply, faster celldivision, (growth fraction higher, faster doubling time)
    Ability to Invade and Metastasize:
  117. Genetic Basis of Cancer (9)
    • •Proto-Oncogenes
    • •Tumor Suppressive Genes
    • •Genetic mutations, translocations
    • •Epigenetic mechanisms
    • •DNA repair defects
    • •Defects in growth factor signaling pathways
    • •Evasion of or Faulty Apoptosis
    • •Evasion of cellular senescence
    • •Invasion & metastasis properties
  118. Other factors that contribute to Cancer (3)
    • Microenvironment
    • Carcinogenesis:
    • Host & Environmental factors:
  119. Other factors that contribute to Cancer Microenvironment
    Multiple cells inbody contribute: macrophages, fibroblasts, endothelia cell, immune &inflammatory cells, extracellular matrix, & substances that signal andregulate body function i.e. hormones, cytokines, *chemokines-(*regulate growthhormone) – Reversal in research
  120. Other factors that contribute to Cancer: Carcinogenesis:
    •Process by which carcinogenic agents cause normal cells to become cancer, believed to bemultistep: Initiation, Promotion, Progression
  121. Other factors that contribute to Cancer Host & Environmental factors:
    Heredity, Hormones,Immunologic mechanisms, chemical   &  enviromental carcinogens, (p. 175) radiation   (ionizing,UV), oncogenic viruses
  122. General Cancer Clinical (systemic) Manifestations (4)
    • Anorexia (Cachexia)
    • Fatigue & Sleep disturbance
    • Anemia
    • Paraneoplastic syndromes (i.e. venos blood clots (DVT), SIADH, Cushings 
    • multiple hormone & circulating factors)
  123. Cancer Screening
    • secondary prevention for EARLY RECOGNITION i.e. oral & skin exams, Pap smears,
    • Mammography, Prostate exams, Colonoscopy
  124. Cancer Diagnosis:
    CT scan, MRI, PETScan, Tumor markers, (antigens on surface of tumor cells, elevatedhormone/enzyme levels, oncofetal proteins in bloodused to screen/Dx, monitor TX effectiveness, establish prognosis i.e. hCG, CA-125, CEA, AFP, PSA, CD
  125. Cancer Cytology:
    Pap smear, Tissue biobsies, Immunohistochemistry (antibodies used for identification of cellproducts/surface markers) Microarray technology (gene chips for miniature assay)
  126. Cancer Staging and Grading of tumors :
    • T, tumor size
    • N lymph node involvement,
    • M metastasis
  127. TMN Classification: Tx
    Tumor cannot be adequately assessed
  128. TMN Classification: T0
    No Evidence of primary tumor
  129. TMN Classification: Tis
    Carcinoma in situ
  130. TMN Classification: T1-4
    Progressive increase in tumor size or involvement
  131. TMN Classification: Nx
    Regional lymph nodes cannot be assessed
  132. TMN Classification: N0
    No evidence of regional node metastasis
  133. TMN Classification: N1-3
    Increasing involvement of regional lymph nodes
  134. TMN Classification: Mx
    Not assessed
  135. TMN Classification: M0
    No distant metastasis
  136. TMN Classification: M1
    Distant metastasis present, specify sites
  137. Chemotherapy:
    Systemic treatment,reaches distant sites (cancer & non-cancer * rapidly dividing cells), singular Tx or multimodalcomponent,
  138. Chemotherapy:  Types:
    • Intravenous,
    • oral,
    • intrathecal,
    • other instillation
  139. Common chemo side effects (Nadir):
    • Bone Marrow suppression and reduced blood cellcounts,
    • anorexia,
    • N/V,
    • Alopecia,
    • chemo is mutagenic,
    • teratogenic,
    • carcinogenic to cells
  140. Hormone Therapy Drugs
    used to disrupt hormone environment of cancer cells, suppress hormone levels in blood, alter hormone receptor function
  141. Biotherapy: Biologic response modifiers 3 types:
    • Cytokines:   
    • Hematopoetic growth factors 
    • Monoclonal antibodies:
  142. Cytokines:
    interferons & interleukins,endogenous   polypeptides that inhibitreplication, protein synthesis, &   cellularcommunication
  143. Hematopoetic growth factors
    stimulate blood cell production
  144. Monoclonal antibodies:
    IGG antibodies cloned in lab highly specific {targeted} to antigens on cancer cell
  145. Immunotherapy
    (using cultured bacteria tostimulate immune system to kill cancer cells, Also, using cultured immune cells i.e. culturednatural killer cellsto kill cancer cells)
  146. Other Targeted Therapies
    proteins that block enzymes, cancer cells only
  147. Radiation therapy:
    Most common treatment,  high energy radiation particles & waves, damage kill cells, Types: beam, seed, implants
  148. Nursing Intervention- Cancer
    • Patient & Family Education: 
    • •Administration of medications & Chemooordination of treatment and follow up
    • •Assess , Monitor & Report all adverse effects, CM lab & other testing results
    • •Documentation all care & education
  149. Patient & Family Education Cancer:
    • Cancer &clinical manifestations, treatment and adverse effects (chemo precautions, neutropenia precautions),
    • nutritional concerns (High calorie diet, neutropenic diet)
    • importance ofsleep & rest,
    • emotional support,
    • coping with anxiety & fears,
    • support service referral (Cancer Society, support groups, counseling services, homehealth care, Hospice as needed)
  150. Genes
    • Sequences of DNA
    • which contain instructions for making a protein

    •    –Each set of three bases on DNA codes for a specific amino acid.
    •    –Amino acids are strung together in the order specified to make the protein.
  151. Many genes could affect one trait:
  152. Both multiple genesand the environment could affect one trait:
  153. One gene could mask the effect of another:
  154. •One gene might dependon another:
  155. Two genes togethermight create a new phenotype:
  156. The sum total of genetic information in the cells
  157. The physicalmanifestation of genetic information
  158. The percentage of a population with a particular genotype in which the genotype is phenotypically manifested
  159. The manner in which the gene is expressed,or the degree to which a gene or particular group of genes is active
  160. Mendel’s First Law
    • During maturation, the primordial germ cells of both parents undergo meiosis, dividing the number of chromosomes in half.
    • The two alleles from a gene locus separate; each germ cell receives only one allele from each pair.
  161. Mendel’s Second Law
    The alleles from the different gene loci segregate independently and recombine randomly in the zygote.
  162. Causes of Birth Defects
    • •Genetic factors
    • •Environmental factors (fetaldevelopment)
    • •Intrauterine factors (rare)
  163. Causes of Birth Defects:Genetic factors–
    Single-gene or multifactorial inheritance or chromosomal aberrations
  164. Causes of Birth Defects: Environmental factors
    (feta ldevelopment)–Maternal disease, infections, or drugs taken during pregnancy
  165. Causes of Birth Defects: •Intrauterine factors
    • rare)–
    • Fetal crowding,
    • positioning, or
    • entanglement of fetal parts with the amnion
  166. Characteristics of Single-Gene Disorders
    • •Caused by a single defective or mutant gene
    • –May be present on an autosome or the X chromosome
    • –May  affect one member or both members of an autosomal gene pair

    •Defects follow the Mendelian patterns of inheritance

    • •Characterized by their patterns of transmission
    • –Obtained through a family genetic history
  167. Results of Single-Gene Disorders (5)
    • -Formation of an abnormal protein or decreased production of a gene product
    • -Defective or decreased amounts of an enzyme
    • -Defects in receptor proteins and their function
    • -Alterations in non-enzyme proteins
    • -Mutations resulting in unusual reactions to drugs
  168. Marfan syndrome
    A connective tissuedisorder manifested by changes in the skeleton, eyes, and cardiovascular system
  169. Neurofibromatosis (NF)
    Condition involving neurogenic tumors that arise from Schwann cells and other elements of theperipheral nervous system
  170. Marfan Syndrome :Prevalence and inheritance pattern
    • Autosomal dominant
    • New mutation (15-30%)
    • 1 in 10,000
  171. Marfan Syndrome Defect (2)
    • •Mutation of fibrillan(a glycoprotein in microfibrils of extracellular matrix)
    • •Defect located on fibrillin gen 15q21.1
  172. Marfan Syndrome Expression
    •Much variety
  173. Marfan Syndrome Clinical Manifestations:Lungs–
    • Restrictive lung disease
    • –Snoring
    • –Sleep apnea
  174. Marfan Syndrome Clinical Manifestations: Neurological
    –Dural ectasia
  175. Marfan Syndrome Clinical Manifestations: Heart and blood vessel
    • –Defective valves
    • –Aortic arch dilation
  176. Marfan Syndrome Clinical Manifestations: Eyes (2)
    • –Dislocation lens (bulging)
    • –Misceye disorders (myopia)
  177. Marfan Syndrome Clinical Manifestations: Skeletal changes (5)
    • –Often very tall or taller
    • –Slender and loose jointed
    • –Longnarrow face, arched palate
    • –Scoliosis
    • –Breastbone malformations
  178. Marfan Syndrome Diagnosis:
    • MRI, CT, Bone Scans
    • Based on manydiagnostic criteria of skeletal, cardiovascular,ocular deformities (many tests)
  179. Marfan Syndrome Treatment (5)
    • No cure
    • Regular cardiacassessment & testing (EKG, Echocardiogram)
    • Periodic eye exams
    • Skeletal evaluation(exam, xrays)
    • Educate patient onneed to limit high impact sports, strenuous activities, scuba diving, weight training
  180. Neurofibromatosis: Prevalence and inheritance pattern
    • AutosomalDominant  Disorder
    • 2 Genetic forms:
    •  type 1 is common, 1 in 3500, 50 % are autosomal dominant, other 50 new mutation;
    • Type 2 tumors of acoustic nerve
  181. Neurofibromatosis Defect:
    Mutation in tumor suppressor gene that regulates cell differentiation and growth
  182. Neurofibromatosis Expression & Clinical Manifestations: (7)
    • –Type1 mapped to chromosome17, 
    • –Cutaneous & Subcutaneous lesions that project from skin
    •  –a few to many hundred, can form large, painful (subcut.) benign tumors causing skeletal deformities
    • –Tumors may become malignant neoplasms
    • –Usually manifests near adolecense 
    • –Children may have neurologic complications, learning disability, ADD, seizures 
    • –Also: Café Au Lait spots on skin,pigmented nodules of iris, (Lisch nodules), aid in diagnosis
  183. Phenylketonuria (PKU)
    A rare metabolic disorder caused by a deficiency of the liver enzyme phenylalanine hydroxylase
  184. Tay-Sachs disease
    • –A variant of a class of lysosomal storage diseases, known asthe gangliosidoses
    • –Ganglioside in the membranes of nervous tissue is deposited in neurons of the central nervous system and retina because of a failure of lysosomal degradation
  185. Tay-Sachs disease: Clinical manifestations
    • –Infants appear normalat birth
    • –Progrssive weakness, muscle flaccidity
    • –Decreased attentiveness at 6-10 months
    • –Then rapid deterioration of motor & mental function, seizures
    • –Retinal : visual impairment, eventual blindness
  186. Tay-Sachs disease: Treatment
    • •No cure, death before age 4-5
    • •Serum (blood) analysis for hexosaminidase deficiency
  187. Types of Hemophilia
    • Hemophilia A (classic)- Accounts for 75% of cases
    • Hemophilia
    • B (Christmas disease)- less severe
  188. Hemophilia Prevalence and inheritance pattern
    X – linked recessiveor new mutation
  189. Hemophilia: Expression
    Severity depends on level of factor present
  190. Hemophilia Clinical Manifestations
    • •Hemorrhage/bleeding:
    • –May occur anywhere; subcutaneous and intramuscular common
    • –S/S  depends on location
    • •Hemarthrosis
    • –Knees,elbows and ankles most common
    • –Early s/s – stiffness, tingling, aches
    • –Later s/s – warmth, redness, swelling, severe pain
  191. Hemophilia Diagnosis:
    • –Analysis of directgene mutation
    • – DNA Linkage studies
    • –Amniocentesis or Chorionic villus sampling (these are to predict complications in fetus/newbornand determine therapy, one day for gene addition)
  192. Examples of Multifactorial Inheritance Disorders
    • Cleft lip or palate
    • Clubfoot
    • Congenital dislocation of the hip
    • Congenital heart disease
    • Pyloric stenosis
    • Urinary tract malformation
  193. Chromosomal Disorders
    • A major category of genetic diseasse
    • Alterations in the number of chromosomes
    • Stuctural changes due to breakage, and then rearrangement & possible deletion of chromosomes caused by many factors
    • If small amount of genetic material lost/translocated, often goes unnoticed, Difficulty arises during meiosis, results in gametes with unbalanced number of chromosomes
  194. is the net movement of water from an area of LOW solute concentration to an area of HIGHER solute concentration across a semi-permeable membrane.
  195. is the net movement of solutes from an area of HIGH solute concentration to an area of LOWER solute concentration.
  196. Osmolality (4)
    • The number of solutes per kg of water (by weight)
    • Used to describe the concentration of body fluids
    • Normal osmolality of ICF & ECF ranges between 275/280-295mOsm/kg
    • Estimate the serum osmolality by doubling the serum sodium concentration
  197. Tonicity
    Effect that the osmotic pressure of a solution with impermeable solutes exerts on cell size because of water movement across cell membrane
  198. Osmolarity (outside body)
    Osmolar concentration in 1 L of solution (mOsm/L)
  199. Isotonic Solutions
    *Same solute concentration as RBC/Plasma
  200. Isotonic Solutions Example Fluids:
    • *0.9% NaCl (aka Normal Saline)
    • *Lactated Ringers solution (LR)
  201. Hypertonic Solutions
    *Higher solute concentration than RBC / Plasma
  202. Isotonic Solutions *If injected into vein:
    no net movement of fluid; Body cells placed in isotonic solution neither shrink nor swell
  203. Hypertonic Solutions  *If injected into vein:
    • fluid has greater concentration of solutes than plasma so,
    • Fluid moves INTO veins: Water in cells moves to outside to equalize concentrations:
    • cells will shrink: 3 % NaCl, 25 % albumin, 10% Dextrose (D 10)
  204. Hypertonic Solutions: Examples
    • 3 % NaCl,
    • 25 % albumin,
    • 10% Dextrose (D 10)
  205. Hypotonic Solutions
    *Lower solute concentration than RBC/plasma
  206. Hypotonic Solutions *If injected into vein:
    fluid has lower concentrationof solutes than plasma Fluid moves OUT of veins: Water outside cells moves to inside of cells; cells will swell and eventually burst(hemolyze) Example: 0.45% NaCl
  207. Hypotonic Solutions Example:
    0.45% NaCl
  208. Hypothalamic Regulation
    • Thirst center in brain is the primary regulator of water intake
    • Antidiuretic hormone: responds to osmolality & blood volume
  209. Pituitary Regulation
    Works under control of hypothalamus to release ADH
  210. Renal Regulation
    Regulator of volume & osmolality by controlling excretion of water & electrolytes
  211. Adrenal Cortical Regulation
    • Renin-angiotension-aldosterone mechanism: response to a drop in bloodpressure;
    • results from vasoconstriction and sodium regulation by aldosterone
  212. Cardiac Regulation
    • Atrial natriuretic factor (hormone released by cardiac atria in response to increased atrial pressure);
    • causes vasodilation & increased urinary excretion of sodium & water (which decreases blood volume);
    • inhibits renin secretion& blocks effects of aldosterone
  213. Capillary filtration pressure,
    b/c vascular fluid moves intointerstitial spaces
  214. Capillary colloidal osmotic pressure,
    b/c of in adequate production or loss of plasma proteins, *albumin, which exert force to pull fluid back in capillary space (kidney / liver disease, burns)
  215. Capillary permeability
    capillary pores enlarged/walls damaged protein and other osmotic particles leak out into interstitial space
  216. Obstruction to lymph flow
    lymphedema when particles/proteins cannot be reabsorbed through cap membrane pores
    Increased Capillary Pressure (13)
    • Increased vascular volume
    • Heart failure
    • Kidney disease
    • Premenstrual sodium retention
    • Pregnancy
    • Environmental heat stress
    • Thiazolidinedione (e.g., pioglitazone, rosiglitazone) therapy
    • Venous obstruction
    • Liver disease with portal vein obstruction
    • Acute pulmonary edema
    • Venous thrombosis (thrombophlebitis)
    • Decreased arteriolar resistance
    • Calcium channel–blocking drug responses
  218. Decreased Colloidal Osmotic Pressure (6)
    • Increased loss of plasma proteins
    • Protein-losing kidney diseases
    • Extensive burns
    • Decreased production of plasma proteins
    • Liver disease
    • Starvation, malnutrition
  219. CAUSES OF EDEMA:Increased Capillary Permeability (4)
    • Infammation
    • Allergic reactions (e.g., hives)
    • Malignancy (e.g., ascites, pleural effusion)
    • Tissue injury and burns
  220. CAUSES OF EDEMA:Obstruction of Lymphatic Flow (2)
    • Malignant obstruction of lymphatic structures
    • Surgical removal of lymph nodes
  221. Edema Assessment:
    • visual inspection ,
    • palpation,
    • daily weight(1 liter=2.2 lbs or 1 Kg),
    • measurement
  222. Edema Treatment
    • depends on type of edema,
    • correcting life altering types,
    • controlling the cause,
    • Diuretic Therapy,
    • elastic stockings,
    • massage for lymph edema,
    • elevating extremities,
    • pt/family education
  223. Concentrations of Extracellular Sodium
    135-145 mEq/L
  224. Concentrations of Extracellular Potassium
    3.5-5.0 mEq/L
  225. Concentrations of Extracellular Chloride
    98-106 mEq/L
  226. Concentrations of Extracellular Bicarbonate
    24-31 mEq/L
  227. Concentrations of Extracellular Calcium
    8.5-10.5 mg/dl
  228. Concentrations of Extracellular Phosphorus
    2.5-4.5 mg/dL
  229. Concentrations of Extracellular Magnesium
    1.8-3.0 mg/dL
  230. Regulation of Na+/water balance:
    Maintenance of effective circulating volume (arterial BV), vascular & Kidney baroreceptors, ADH & Renin/Angiot./Aldost. system
  231. Regulation of sodium (Na+ most abundant cation in body, (3)
    • Gains and Losses (In GI, out *Kidney & GI, skin)
    • Sources of sodium (diet, need 500 mg/day, most take in 6000-15,000/day
    • Causes of loss *Kidney (disease), GI (vomiting/diarrhea), skin/sweat
  232. Electrolyte Disorders: Sodium: Overview (2)
    • Normal level is 135–145 mEq/L
    • Regulates ECF fluid volume and osmolarity
  233. Hyponatremia
    • <135 mEq/L
    • Common, Plasma loss,
  234. Hyponatremia Hypertonic translocational:
    • shift H2O out of ICF,
    • Diabetes
  235. Hyponatremia: *Hypotonic (dilutional) water retention,
    classified by volemia/ECFvolume
  236. Hyponatremia: Hypovolemic hypotonic:
    H2O & Na= loss, but more Na+ loss: excessive sweating
  237. Hyponatremia: Euvolemic Hypotonic:
    retain H2O, dilute Na+, ECF WNL= SIADH
  238. Hyponatremia: Hypervolemic hypotonic (edema):
    Heart Failure, Kidney & liver disease
  239. Hyponatremia Clinical Manifestations (11)
    • (sudden or slow):
    • Muscle cramps,
    • weakness,
    • fatigue,
    • Finger print edema,
    • n/v/d,
    • abd cramps,
    • Neuro:
    • lethargy,
    • apathy,
    • headache,
    • disorientation &
    • confusion
  240. Hyponatremia Diagnosis & TX:
    • Labs, exam, SIADH (syndrome of inappropriate antidiuretic hormone secretion):
    • limit water intake,
    • removing medications,
    • correct underlying cause,
    • Oral or IV saline solutions,
    • occasionally a diuretic,
    • CNS: requires slow correction
  241. Hypernatremia
    (>145 mEq/L)
  242. Hypernatremia Causes:
    • Net loss of H2O (unable to drink, increasedloss in urine )
    • or Na+ gain (rapid ingestion, IVinfusion)
    • Follows a loss of body fluids that have low concentration of Na+, so more fluid than sodium loss(loss in respiratory tract/fever, strenuous exercise,watery diarrhea, tube feedings)
  243. Hypernatremia Clinical manifestations:
    • ECF & cell dehydration,
    • *Thirst,
    • weight loss,
    • increased Hematocrit (blood cellconcentration, decreased urinary output (UOP) &
    • urine osmolality (renal conservation) skin warm/flushing,
    • elevated body temp,
    • decreased blood volume,
    • rapid pulse,
    • dry skin & mucous membranes,
    • CNS: decreases reflexes, agitation, headache
  244. Hypernatremia Diagnosis & TX:
    • Exam,
    • labs (urine/serum),
    • fluid replacement,
    • correct underlying cause,
    • slow correction: CNS
  245. Fluid Volume deficit: Isotonic (Decrease in ECF: vascular & interstitular, proportionate loss of sodium & water, when effects circulating blood volume-Hypovolemia)

    Loss of body fluid, poor fluid intake, lack of thirst, GI fluid loss,polyuria, sweating due to fever/exercise
  246. Fluid Volume deficit: Isotonic (Decrease in ECF: vascular & interstitular, proportionate loss of sodium & water, when effects circulating blood volume-Hypovolemia)
    Clinical manifestations :
    • thirst,
    • weight loss,
    • impaired temperatureregulation,
    • decrease UOP,
    • increased Urine osmolality & specific gravity,
    • sunken eyes,
    • decreased BP & skin turgor
  247. Fluid Volume deficit: Isotonic (Decrease in ECF: vascular & interstitular, proportionate loss of sodium & water, when effects circulating blood volume-Hypovolemia) Diagnosis & RX:
    • H&P,
    • Vitals,
    • Capillary refill,
    • urinalysis,
    • increases BUN & Hematocrit,
    • blood chemistry,
    • replace fluids
  248. Fluid volume excess: Isotonic (isotonic expansion of ECF) Causes:
    • hot weather,
    • increased sodium quickly followed by increased fluid(diet or kidney disorder decreased elimination) heart, liver ,or kidney failure,excess corticosteroids…
  249. Fluid volume excess: Isotonic (isotonic expansion of ECF) Clinical manifestations:
    • weight gain,
    • edema,
    • Decreased BUN & Hematocrit,
    • distended neck veins,
    • bounding pulse,
    • increased BP & CVP,
    • Ascites pulmonary edema
  250. Fluid volume excess: Isotonic (isotonic expansion of ECF Diagnosis & RX:
    • above labs,
    • H & P,
    • chest xray,
    • vitals,
    • cardiac,
    • low sodium diet
    • & Diuretics
  251. Thirst disorders:
    • Stimulated by cell dehydration, increased ECF osmolality, decreased blood volume, increased angiotensin II
    • Hypodypsia
    • Polydipsia:
  252. Hypodypsia
    (decreased ability to sense thirst, lesionshypothalamus, brain trauma, tumors, hemorrhage,decreased sense in elderly/CVA)
  253. Polydipsia:
    (excessive thirst, types: true/symptomatic,*false/inappropriate, & compulsive: *Psychogenic
  254. ADH Anti-Diuretic Hormone (Vasopressin) disorders
    • Diabetes Insipidus
    • Syndrome of Inappropriate Secretion of ADH (SIADH)
  255. Diabetes Insipidus: (Neurogenic & Central/Nephrogenic) ADHdeficiency or decreased response, inability to concentrateurine in periods of water restriction, excrete large volumes ofurine, 3-30L/day, excessive thirst, little alteration in body fluidlevels if thirst is nl & fluids available, danger if these are impactedor cannot communicate need for water.
    Neurogenic & Central/Nephrogenic) ADH deficiency or decreased response, inability to concentrate urine in periods of water restriction, excrete large volumes of urine, 3-30L/day, excessive thirst, little alteration in body fluid levels if thirst is nl & fluids available, danger if these are impacted or cannot communicate need for water.
  256. Diabetes Insipidus:DX:
    • 24 Hour UOP measurement,
    • r/o kidney & glucose disease,
    • ADH levels,
    • urine osmolality before & after fluid deprivation,
    • correct underlying cause
  257. Diabetes Insipidus:TX:
    • pharmacologic replacement of synthetic ADH with response monitoring,
    • MRI pituitary & hypothalamus,
    • drugs: Desmopressin for chronic DI, thiazide diuretics, other…
  258. Syndrome of Inappropriate ADH (SIADH): CM:
    • Same as dilutional hyponatremia,
    • high urine osmolality,
    • LOW serum osmolality,
    • decreased UOP, (despite fluid intake),
    • serum Hematocrit,
    • sodium, & BUN all decreased,
  259. Syndrome of Inappropriate ADH (SIADH): 5 cardinal features for DX:
    • hypotonic hyponatremia
    • natriuresis
    • Urine osmolality in excess or serum osmolality
    • Absence of edema & volume depletion
    • Normal renal& Adrenal function
  260. Syndrome of Inappropriate ADH (SIADH): TX:
    • Depends on severity,
    • fluid restriction,
    • Drugs: Diuretics, Lithium, otherdrugs, hypertonic 3% saline for severe cases only
  261. Potassium Overview (5)
    • Normal level is 3.5–5.0 mEq/L
    • Maintains intracellularosmolarity
    • Controls cell resting potential
    • Needed for Na+/K+ pump
    • Exchanged for H+ to buffer changes in blood pH
  262. Potassium Imbalances
    • Hypokalemia
    • Hyperkalemia
  263. Hypokalemia
    • (<3.5 mEq/L)
    • cardiac: dysrhythmia,bradycardia, weakness,fatigue, muscle cramps
  264. Hyperkalemia
    • (>5 mEq/L)
    • cardiac,interrupts conduction=cancause cardiac arrest
  265. Calcium Normal level
    is 8.5–10.5mg/dL
  266. Calcium: Overview (5)
    • Extracellular: blocks Na+gates in nerve and musclecells
    • Clotting
    • Leaks into cardiac muscle,causing it to fire
    • Intracellular: needed for all muscle contraction
    • Acts as second messenger in many hormone and neurotransmitter pathways
  267. Hypocalcemia
    (< 8.5mg/dL)
  268. Hypercalcemia
  269. Magnesium
    Normal level is 1.8–2.7 mg/dL
  270. Magnesium Cofactor in enzymatic reactions
    • Involving ATP
    • DNA replication
    • mRNA production
  271. Normal value: pH
    = 7.35–7.45
  272. Acid (H+) Hydrogen Ion
    • Blocks Na+ gates
    • Controls respiratory rate
  273. Individual acids have different functions
    • Byproducts of energy metabolism (carbonic acid, lacticacid)
    • Digestion (hydrochloric acid)
    • “Food” for brain (ketoacids)
  274. An increase in CO2 will cause (3)
    • Increases in CO2 (increased PCO2)
    • Increases in H+ (lower pH)
    • Increases in bicarbonate ion
  275. Normal Hydrogen Ion Concentration
    7.35 - 7.45
  276. Acidic Solution
    • Higher H+, lower pH
    • pH <7.4
  277. Basic Solution
    • Lower H+, higher pH
    • pH >7.4
  278. 3 Major Mechanisms for Regulating pH
    • ICF and ECF buffering systems
    • Lungs (control elimination of CO2)
    • Kidneys (reabsorb HCO3 [bicarbonate] and eliminate H+)
  279. Respiratory Acidosis
    • Increased PCO2
    • Increased Carbonic Acid
    • Increased H+ = low pH
    • Increased Bicarbonate
  280. Respiratory Alkalosis
    • Decreased PCO2
    • Decreased Carbonic Acid
    • Decreased H+ = low pH
    • Decreased Bicarbonate
  281. Decrease in pH,
    Increase in CO2.
    Caused by slow respirations, over-sedation, chest wall trauma, pulmonary edema, emphysema, asthma, and bronchitis. Tx: Adjust ventilation.
    Respiratory Acidosis
  282. Decrease in pH, Decrease in HCO3. Caused by lactic acidosis, poor perfusion, renal failure, DKA. Tx: Adjust ventilation, administration of HCO3.
    Metabolic Acidosis
  283. Increase in pH.
    Decrease in CO2.
    Caused by hypermetabolic states (fever), lung disease, liver failure. Tx: Decreasing ventilation, breathing through bag, decreasing hypermetabolic states.
    Respiratory Alkalosis
  284. Increase in pH.
    Increase in HCO3.
    Caused by vomiting, GI suctioning, diruretics, and excessive HCO3 intake.
    Tx: Respiratory compensation through hypoventilation (increases CO2 which increases H+, lowering pH), renal compensation by decreasing acid excretion through urine and bicarbonate regeneration.
    Metabolic Alkalosis
  285. PCO2
    Partial Carbon dioxide
  286. H2CO3
    Carbonic Acid
  287. HCO3
  288. Metabolic Acidosis
    • Increased H+ = low pH(<7.35)
    • Decreased bicarbonate
    • Heavier breathing causes
    • decreased PCO2
  289. Metabolic alkalosis
    • Decreased H+ = high pH(>7.45)
    • Increased bicarbonate
    • Lighter breathing causes increased PCO2
  290. Normal Arterial PCO2 level
    35-45 mEq/L
  291. Normal HCO3
    22-28 mEq/L
  292. The condition of respiratory alkalosis is present if the PCO2 number is below 35 mmHg. This means there is too little carbon dioxide in the blood
    the PCO2 number is below 35 mmHg. This means there is too little carbon dioxide in the blood
  293. The condition of respiratory acidosis is present if the PCO2 number is above 45 mmHg. There is too much carbon dioxide in the blood
    the PCO2 number is above 45 mmHg. There is too much carbon dioxide in the blood
  294. An HCO3 level is below 24 mEq/L
    indicates metabolic acidosis. The body cannot produce enough bicarbonates to keep up with the carbonic acid in the blood.
  295. An HCO3 level above 26 mEq/L indicates
    metabolic alkalosis. There are too many bicarbonates in the blood.