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260 Cards in this Set

  • Front
  • Back
Chronic inflamm features?
pallor
Coolness
stiffness
Acute inflamm features?
redness (rubor)
pain (dolor)
heat (calor)
Swelling (tumor)
Mediators of inflamm?
prostaglandins
NO
IL-1
Histamine
Bradykinin
C5a
IL-8
C3b
What feature of inflamm do histamine and bradykinin share?
Exudation (=oozing forth)

(bradykinin ALSO does pain and vasodilation, like prostaglandins)
What does C3b do in inflamm?
opsonization --> phagocytosis
What feature of inflamm do C5a and IL-8 share?
chemotaxis
Define MHC
Major Histocompatibility Complex - an area of chromo 6
Define HLA
Human Leukocyte Antigens = group of proteins found on certain cell surfaces that represent the protein products of histocompatibility gene expression
Class I Human Leukocyte Antigens (HLA) are found where?
On all nucleated cells (note: RBCs DON'T have a nucleus)
Class II Human Leukocyte Antigens (HLA) are found where?
On antigen presenting cells: macrophages, B cells, dendritic cells (including Langerhan's cells), All APCs have class II antigens on cell surface
Which cytokine stimulates proliferation of bone marrow to create B and T cells?
IL-7
Which cytokine leads Macrophages, T cells, B cells and granolocytes to have an anti-viral effect by inducing MHC-1 and inhibiting viral mRNA translation
INF-alpha
Which cytokine works on platelet endothelial cells to promote proliferation of vascular sm. muscle and healing?
PDGF Platelet-derived growth factor
Fibroblasts use what cytokine to have an anti-viral effect by inducing MHC-1 and inhibiting viral mRNA translation?
INF-Beta
What cytokine leads macrophages to produce fever and cachexia?
TNF-alpha
Role of the cytokine IL-3?
Stimulate bone marrow
Role of the cytokine TGF-alpha?
stimulate angiogenesis and tumor growth
Role of the cytokine TGF-beta?
Inhibits T cells and promotes collagen formation
Role of the cytokine TNF-alpha
Fever, inhibits lipoprotein lipase, stimulates acute phase response as well as T and B cells (note, TNF-beta has similar actions)
What cytokine stimulates bone marrow?
CSF, colony stimulating factor
Role of the cytokine RANTES
RANTES = regulated and normal T cell expressed and secreted chemokine

Chemotaxis of monocytes
Role of the cytokine SRS-A?
Slow-reacting substances of anaphylaxis; leukotrienes.

Mediates exudation, vasoconstriction, and bronchoconstriction
Role of the cytokine IL-6
fever. stimulates acute phase response
What cytokines start the acute phase response as a result of immune system activation?
IL-1, IL-6, TNF-alpha
What does the liver do in response to the production of IL-1, IL-6, TNF-alpha?
Liver produces acute phase proteins, like c-reactive proteins, serum amyloid proteins, complement proteins, fibrinogen, prothrombin and other proteins
Which complement proteins stimulate mast cells, basophils and platelets to release histamine?
C3a and C5a (=Anaphylotoxins)
Purpose of opsonins?
coat foreign substances, allowing them to be more easily phagocytosed
What activates the classical pathway of the complement system? (complement proteins are those that are produced by the liver to carry out vital activities of the immune system)
Antigen-Ab complex
How does a membrane attack complex work?
lands on whatever cell/microbe its manufactured on and allows water and electrolytes to flow in and out causing its death.
Antidote for Acetominophen?
N-acetylcysteine
Antidote for Anticholinergics?
Physostigmine
Antidote for Benzodiasepines?
Flumazenil
Antidote for Beta-Blockers?
Glucagon and Calcium
Antidote for Carbon Monoxide?
Oxygen
Antidote for Cyanide?
Amyl nitrate
Antidote for Digoxin?
Anti-digoxin Fab Abs
Antidote for Ethylene glycol?
Ethanol
Antidote for Heparin
Protamine
Antidote for Iron
Deferoxamine
Antidote for Isoniazid?
Pyridoxine
Antidote for Lead?
EDTA or BAL
Antidote for Methanol?
Ethanol
Antidote for Opioids?
Naloxone
Antidote for Warfarin?
Vit. K
Antidote for Organophosphates?
Atropine or Pralidoxime
Overdose of Acetominophen causes what?
Liver failure
Overdose of an anticholinergic (=block Ach) presents with what symptoms?
"dry as a bone, mad as a hatter, blind as a bat"

Anhidrosis, fever, delirium, mydriasis
Opiate over dose causes what symptoms? (opiates = morphine, heroin, codeine)
"MORPHINE"
Miosis
Out if it (sedated)
Respiratory depression
Pneumonia (aspiration)
Hypotension
Infrequency (constipation, urinary retention)
Nausea
Emesis
Over dose symptoms of Benzodiazepines (=sedative, tranquilizer, antidote to alcohol withdrawal)?
Sedation and life-threatening respiratory depression
Over-dose of methanol presents as (=in anti-freeze and known as wood alcohol. component of improperly made wines)?
Abdominal pain and permanent blindness
Ethylene glycol poisoning (in anti-freeze)?
Renal failure
A pt accidentally injested Ethylene glycol and methanol, so you give them ethanol as an antidote. If you overdose them of ethanol, what side effects can you expect to see that are due to the ethanol?
Abdominal pain, respiratory depression, stupor, coma, death
Carbon monoxide is a product of what?
incomplete combustion
If you heat your home with oil or gas, have a car with a faulty exhaust system, or leave your car running in a closed garage, you are at increased risk of what type of poisoning?
carbon monoxide
How does carbon monoxide work to cause death?
binds Hb with greater affinity than Oxygen but ULTIMATELY causes death by DIRECTLY inhibiting the electron transport chain (respiration) in the mitochondria of cells
Cyanide causes death how?
Reacting with and inactivating respiratory enzymes (electron transport pathway in mito) preventing production of ATP
How do organophosphates work to stimulate skeletal muscle motion?
Cholinesterase inhibitors ie the enzyme that breaks down Ach is inhibited thus we have more Ach and stimulation of its receptors ie skeletal muscle stimulation and parasymps.
Malathion is what kind of drug?
organophosphate ie cholinergic agent
What happens if you OD on Cholinergics>
"SLUDGE"
Salivation
Lacrimation
Urination
Defecation
GI upset (diarrhea, cramps, etc)
Emesis
A farmer OD's on malathion. What antidote do you give him?
Atropine = an anti-cholinergic (=relieves muscle spasm and parasympathetic overdrive leading to sm. m. relaxation and pupil dilation)
Action of Pralidoxime ie "2-PAM"?
Restores cholinesterase activity (= the enzyme that breaks down Ach)
A plumber accidentally ingested lead. whats is MOA in terms of causing adverse reactions? What do you give him for antidote?
inhibits Hemoglobin production pathway

Antidote = EDTA
MOA of Coumadin?
Anti-coagulant that inhibits factors II, VII, IX, X ("1972" ie 10, 9, 7, 2)
Old lady pt has a thrombus and an embolism so is put on Heparin. How does it work? Whats do you look for in terms of over dose?
Prevents caog by activating anti-thrombin III.

Overdose = hemorrhage
How do penicillins and cephalosporins work?
Act to inhibit cell wall synthesis
What are the Aminoglycosides? What's their MOA?
Gentamicin, Amikacin, Neomycin, Streptomycin, Tobramycin.

Inhibit initiation of translation (ie inhibit ability to read RNA to make protien in bact thus inhibiting protein synth)

ONLY work for AEROBIC gram negatives!!!
Pt has been on an antibiotic for a couple weeks and starts noticing hearing loss. What class of Abx was he most likely on?
Aminoglycosides (Gentamicin, Amikacin, Neomycin, Streptomycin, Tobramycin)

NOTE: ototoxicity significantly increases with use of Loops like furosemide
MOA of Vancomycin?
Inhibits phospholipid plasma membrane synth and peptidoglycan polymerization (ie main component of cell wall) = inhibits cell wall synth.
Pt acquires meth-resistant staph. a. infection. DOC?
Vancomycin
MOA of Quinolones?
Inhibit Topoisomerase = inhibit bact. ability to use its own DNA

Ciprofloxacin, gatifloxacin, gemifloxacin, levofloxacin, moxifloxacin, ofloxacin
Whats the big side effect of Quinolones and why you need to NOT use them in pple under 16 or Over 60? What are some other Side Effects?
tendon rupture (tendinopathy)

Inc. QT Interval --> Torsades (so DON'T use with drugs that can inc. QT interval like azoles, NNRTIs, protease inhibs, nicardipine, TCAs, anti-arrhythmics, anti-psychotics, some SSRIs)
MOA of Chloramphenicol?
inhibits peptidyl transferase = enzyme needed for protein synth ie its a protein synth inhibitor
MOA of Erythromycin?
Inhibit protein synth (erythromycin class ie macrolides all do this)
MOA of tetracyclines?
Ex = Doxycycline, tetracycline, minocycline, tigecycline = inhibit tRNA binding and inhibit protein synth
MOA of sulfonamides?
inhibit folate synth
MOA of trimethoprim?
inhibit folate use
Bacitracin is only used in what form for what reason?
Topically, because its nephrotoxic
Polymyxin is used for what bacteria?
Pseudomonas aeruginosa (its an anti-pseudomonal agent)

Found in opthalmic preparations
Carpapenems like doripenem, ertapenem, imipenem and meropenem work how?
cell wall synth = high affinity for penicillin binding proteins in bacteria

Broad Anti-bacterial activity

Work on most Gram pos and many Gram negs including Enterobacteriaceae
Glycopeptides like teicoplanin and vancomycin cell wall inhibitors are effective against what type of bact?
Gram pos., especially used for serious gram pos. infections
Red man syndrome ie erythema and hypotension caused by glycopeptide-mediated histamine release is caused by what Abx?
Glycopeptides
Clindamycin MOA?
protein synth inhibitor
Metronidazole MOA?
activates things that destroy microbial DNA

Works for Anaerobic and many protozoa
Preggo pt has a UTI. DOC?
Nitrofurantoin = inhibits bact. enzymes by accumulating in urine. (DOC for UTI in preggos). Inhibits bacterial enzyme system
Empiric treatment of Osteomyelitis?
Less than 4 months old = nafcillin or oxacillin + ceftazidime or cephapime

All others: nafcillin or oxacillin
Empiric treatment of Any Encephalitis?
Acyclovir until HSV PCR results return. If HSV +, continue Acyclovir
Empiric treatment of Meningitis?
Neonate = Ampicillin + Cefotaxime
Child/Adult = Ceftriaxone or cefotaxime + dexamethasone + vancomycin
Over 50 years old, Alcoholics, or anyone with severe debilitating co-morbid disease or anyone who is immunocompromised = deftriaxine or cefotaxime + dexamethasone + vancomycin + ampicillin
Empiric treatment of Meningitis Prophylaxis of close contacts?
H. influenzae = rifampin
Neisseria menigitidis = rifampin (preferred) or ceftriaxone or ciprofloxacin
Empiric treatment of Otitis Externa?
Ofloxacin drops or (polymyxin+neomycin+ hydrocortisone drops) or (ciprofloxacin + hydrocortisone drops)
Empiric treatment of Otitis Media?
Amoxicillin if less than 2 years old. (if greater than 2 years old, afebrile, with no pain, = analgesics)
Empiric treatment of Conjunctivitis - NON neo-natal?
Viral conjunctivitis (pink eye) = nothing, or chilled artificial tears

Bacterial conjunctivitis (non-gonococcal, non-chlamydial) = Fluoroquinolones by drops
Empiric treatment of Conjunctivitis Neo-natal?
Newborn, onset within 1st day = nothing
Newborn, onset within 2nd-4th day = IV ceftriaxone
Newborn, onset within 3rd - 10th day = PO erythromycin
Newborn, onset within 2nd to 16th day WITH EVIDENT dendritic corneal ulcer = trifluridine drops and IV Acyclovir
Prophylaxis against opthalmia neonatorum?
tetracyclin ointment OR erythromycin ointment
Treatment of diarrhea in premature baby?
Piperacillin + tazobactam OR ampicillin + sulbactam
Treatment of diarrhea in post-antibiotic use pts?
Metronidazole
Treatment of diarrhea in travel-associated pts?
Fluoroquinolones or Rifaximin

(Diarrhea prophylaxis during travel = Fluoroquinolones, then imodium with first loose stool.
Mild-moderate Diarrhea treatment?
Fluids + Lactose and caffeine-free diet
Severe Diarrhea treatment?
Ciprofloxacin or Levofloxacin PLUS metronidazole PLUS fluids, lactose, and caffeine-free diet
Treatment for acute bronchitis?
Antitussives +/- inhaled beta 2 agonists
Treatment for Anthrax prophylaxis (post-exposure)?
Ciprofloxacin
Treatment for Pneumonia?
Less than 1 month old = Ampicillin + Gentamicin + /- Cefotaxime
1-3 months old = Erythromycin or Azithromycin (add cefotaxime if febrile)
3 months - 18 years old = Ampicillin +/- azithromycin +/- vancomycin
Older than 18 = Ceftriaxone OR ertapenem + azithromycin
Treatment of Prostatitis?
Less than 35 years old = Ceftriaxone or Cefixime, then doxycycline or and fluro or TMP-SMX

Older than 35 = Any fluroquinolone or TMP-SMX
Treatment of Sepsis?
Neonate less than 1 week old = amp + cefotaxime
Neonate greater than 1 week old = amp + cefotaxime OR amp + ceftriaxone
Child = Vanc + Cefotaxime or Ceftriaxone
Adult = Any carbapenem PLUS vancomycin
Adult with fever and hypotension = Abx of organism + fluids + Norepinephrine + Low dose steroids + blood glucose control with target range 150-180 mg/dL +/- activated protein C
Treatment of UTI?
Outpatient = TMP-SMX
Inpatient = Ciprofloxacin or Levofloxacin
Preggo = Nitrofurantoin
Treatment for human or animal bite?
Amoxicillin-clavulanic acid + consider anti-rabies prophylaxis
Bacillus cereus DOC?
Vanc or Clindamycin
Borrelia burgdorferi DOC?
Doxy
Campylobacter jejuni DOC?
1st line: Azithromycin then Erythromycin
ALL pts who are bitten by racoon, skunk or bat get what? (note: NOT rat or human bites unless rabies evident in biter)
Rabies vaccine
Candida spp. DOC?
Miconazole for skin/vagina/ Fluconazole for systemic infection
Chlamydia trachomatis DOC?
Doxy
Clostridium difficile DOC?
Metronidazole
Corynebacterium diptheriae DOC?
Erythromycin
Gardnerella vaginalis DOC?
Metronidazole
Hemophilus ducreyi DOC?
Azithromycin +/- Ceftriaxone
Hemophilus influenza DOC?
Cefotaxime or Ceftriaxone
Mycoplasma pneumoniae DOC?
Azithromycin +/- Cipro
Neisseria gonorrhea DOC?
Ceftriaxone + Doxy
Neisseria meningitidis DOC?
Pen G
Bacillus anthracis DOC?
Penicillin
Listeria monocytogenes DOC?
Amp
Pasteurella multocida DOC?
Amoxicillin-Clavulanate or Cefuroxime
Salmonella typhi DOC?
Cipro or Levo
Shigella species DOC?
Azithro or Cipro
Treponema pallidum DOC?
Pen G
Trichomonas vaginalis DOC?
Metronidazole
Staph aureus DOC?
Oxacillin or Nafcillin, dicloxacillin if on skin.

If methicillin resistant (MRSA) = vancomycin
Strep pyogenes DOC?
Pen G or V
Genital warts DOC?
Podophyllin resin OR cryotherapy or trichloroacetic acid
GBS (Group B Strep) Prophylaxis for pregnant females?
Pen G (during labor)
Staph saprophyticus DOC?
Any Cephalosporin or Amoxicillin-clavulanic acid
Strep pneumoniae DOC?
Pen G
Vibrio cholera DOC?
Doxy OR Azithro
Giardia lamblia DOC?
Tinidazole or Nitazoxanide
Entamoeba histolytica DOC?
Metronidazole or tinidazole
Ascaris lumbricoides DOC?
Albendazole or Mebendazole
Enterobius vermicularis DOC?
Mebendazole
Necator americanus DOC?
Albendazole or Mebendazole
Trichinella spiralis DOC?
albendazole + prednisone
Schistosoma spp. DOC?
Praziquantel
Diphyllobothrium latum DOC?
praziquantel
Adenovirus DOC?
Cidofovir + Probenecid
Influenza A DOC?
Zanamivir or Oseltamivir
Influenza B and Avian flu (H5N1) DOC?
Zanamivir or Oseltamivir
Measles DOC?
Vit A (children) or ribavirin +/- Vit. A (adults)
Smallpox DOC?
smallpox vaccine (within 4 days of exposure) + Cidofovir + Probenecid
What is the purpose of the Uncovertebral joints of Luschka on the cervical vertebrae?
Provide stability to that region of the spine to lessen the possibility of a herniated nucleus pulposus at each level.
Location of the alar ligament of the cervical vertebrae?
Connects sides of the odontoid process to the lateral aspects of the foramen magnum
Role of anterior and middle scalene muscles in respiration?
Aid in elevating the 1st rib
Role of posterior scalene muscle in respiration?
Elevation of 2nd rib
Where do the cervical nerve roots exit the spine?
C1-C7 emerge above their corresponding vertebra.

C8 emerges below cervical vertebra 7
What nerve roots does the brachial plexus emerge from?
C5-T1 nerve roots
Primary motion of Occipitoatlantal (OA) joint? Rotation and Sidebending?
Primary motion = Flexion/Extension. Rotation and Sidebending occur in opposite directions
Primary motion of Atlantoaxial (AA) joint? Rotation and Sidebending?
Primary motion = Rotation. Rotation and Sidebending = opposite directions
How do you check cervical vertebrae of the occipitoatlantial joint, upper cervical and lower cervical?
Translation (AA are checked via rotation). For ex. if you translate cervical vertebrae to the right, they will sidebend left. Check for restriction with this motion in neutral, flexion, and extension
What clotting factors are directly affected by a deficiency in vitamin K?
"1972"

10, 9, 7, 2
Name the 3 things that may trigger sickling in sickle cell anemia
Hypoxia, Dehydration, Acidity
What type of pneumonia may result in the production of cold antibodies?
Mycoplasma
Deficiency of what may result in megaloblastic anemia and neurological symptoms?
B12
What type of cell will rise in number in the blood following a severe hemorrhage?
Reticulocyte
If a pt. were infected with parasites, what type of WBC would you expect to see increased in number?
Eosinophils
Which type of leukemia is associated with the presence of the Philadelphia chromo?
CML
What cell type is classic in the diagnosis of Hodgkin's disease?
Reed-sternberg cell
What disorder is associated with osteolytic lesions in the skull and pelvis, along with Bence-Jones proteins in the urine?
Multiple Myeloma
What are the three features of Virchow's triad?
Stasis, Endothelial injury, Hypercoagulability
What type of arteritis must be diagnosed early in order to prevent blindness?
Giant cell (Temperal)
What kind of aneurysm if often associated with polycystic kidney disease?
Bony
What type of congenital heart anomaly is characterized by a continuous machine like murmur?
PDA, Patent Ductus Arteriosus
What is Eisenmenger Syndrome?
Reverse of L--> R shunt to R--> Left shunt
In ischemic heart disease, what two different conditions can an ST segment elevation often represent?
Prinzemental's angina
MI
What are the 4 major complications that may follow an MI?
Arrhythmia, CHF, Muscle Rupture, ______ shock
Is dypsnea and orthopnea a result of right-sided or left-sided heart failure?
Left
What kind of endocarditis are those with previously damaged or abnormal heart valves more at risk of getting? What are te common organisms responsible for this?
Subacute.

Strep. viridans and Gram neg. Bacilli
What syndrome involving the pericardium may occur following an MI?
Dressler's syndrome
What are the 5 features of the major Jones Criteria?
Polyarthritis, Carditis, Subacute nodules, Erythema marginatum, Chorea
Name the four major classifications of lung disease that represent obstructive lung disease
Asthma
Emphysema
Chronic Bronchitis
__________?
What restrictive lung disease is caused by the habitual inhalation of irritants such as coal dust and silica?
Pneumoconiosis
What is the drug of choice for vaginal candidiasis? Systemic candidiasis?
Vaginal candidiasis = Metronidazole

Systemic Candidiasis = Fluconazole
What is the DOC for N. meningitis N. gonorrhea?
N. meningitis = Pen G

N. gonorrhea = Ceftriaxone
Name the three anatomical aspects of the cervical vertebrae that differ from other spinal vertebrea
Bifid spinous process
Uncinate process
Transversarium Foramen
What ligament connects the dens to the foramen magnum?
Alar Ligament
Which scalenes aid in elevation of the first rib?
Anterior and Middle
If you are able to induce left translation, what type of sidebending are you inducing?
Right
If the occiput is rotated right, in what direction is it sidebent?
Left
If you are about to perform OMT, on the cervical spine, in what area would one generally start?
OA
What is the antidote for acetominophen Overdose?
N-acetylcysteine
What anti-tuberculosis drug is notorious for its hepatotoxicity?
Isoniazid
Name the drugs that we studied to be P450 inducers
OCP, Phenytoin, Barbiturates, Alcohol, Rifampin, L_______, M_______?
Auto-antibody involved in SLE?
Anti-nuclear Ab (ANA) for screening, Anti-ds DNA for confirmation
Auto-Ab involved in Drug-induced lupus?
Anti-histone
Auto-Ab involved in CREST?
Anti-centromere
Auto-Ab involved in Myasthenia Gravis?
Anti- ACh receptor
Auto-Ab involved in Grave's disease?
Anti-TSH receptor
Auto-Ab involved in Hashimoto's Thyroiditis?
Anti-microsomal
Auto-Ab involved in Wegener's granulomatosis?
Anti-neutrophil cytoplasm (ANCA)
Auto-Ab involved in Celiac Sprue?
Anti-gliaden
Auto-Ab involved in Goodpasture's syndrome?
Anti-glomerular basement membrane (anti-GBM)
Auto-Ab involved in Primary biliary cirrhosis?
Anti-mitochondrial
What mediates Type I Hypersensitivity Reactions?
IgE
Whats the only hypersensitivity that does NOT involve Abs?
Type IV - involves macrophages and T cells, ie its cell-mediated
Which hypersensitivity rxn involves immune complex deposition?
Type III
Which hypersensitivity rxn involves Ab-mediated cytotoxicity?
Type II
Rh- mom has Rh+ baby. Her second child is also Rh+. What type of hypersensitivity rxn occurs upon her second pregnancy?
Type II, ie Ab-mediated cytotoxicity means that the second babies tissues will swell with fluid ie vessels LOSE fluid --> erythroblastosis fetalis --> hydrops fetalis
A pt presents with an erythmatous rash after having done some gardening in a poison ivy patch. What type of hypersensitivity rxn is this?
Type IV cell-mediated
Drugs like penicillin can cause what types of hypersensitivity rxns?
Types I, II, III
Map out the Classical Complement pathway
C1 --> C2 and C4 --> C3a (naphylotoxin) and C3b (opsonin = coats stuff) and C4b2bC3b (=C5 convertase) --> C5a and C5b --> C6, C7, C8, C9 --> MAC (=C5-C9)
Map out the Alternate pathway of the complement pathway
Endotoxin, Cobra venom or Complex polysaccharides C3 and B --> Factor D --> C3bBb (alternate convertase) --> C3a (anaphylotoxin) and C3b (opsonin = coats stuff) and C4b2bC3b (=C5 convertase) --> C5a and C5b --> C6, C7, C8, C9 --> MAC (=C5-C9)
Auto-Ab involved in Auoimmune hemolytic anemia?
Anti-RBC
Auto-Ab involved in Bullous Pemphigoid?
Anti-epidermal basement membrane
Auto-Ab involved in Type I diabetes mellitus (insulin-dependent diabetes mellitus)?
Anti-islet cell
Auto-Ab involved in Pemphigus?
Anti-keratinocyte junction
Auto-Ab involved in Pernicious anemia?
Anti-intrinsic factor, anti-parietal cell
Auto-Ab involved in Microscopic polyangitis?
p-ANCA (peri-nuclear anti-neutrophil cytoplasm)
Auto-Ab involved in Polymyositis?
Speckled ANA (Anti-nuclear Ab) (20% also have anti0Jo-1)
Auto-Ab involved in Progressive systemic sclerosis (scleroderma)?
Anti-Slc 70
Auto-Ab involved in Idiopathic thrombocytopenic purpura (adult form)?
Anti-structural platelet
Auto-Ab involved in Vitiligo?
Anti-melanocyte
What oncogene is mutated in Burkitt Lymphoma?
c-myc (when NOT mutated and hence ACTIVE, helps prevent this cancer)
Whats the mutated oncogene in chronic myelogenous leukemia? (CML)
a-abl (when NOT mutated and hence ACTIVE, helps prevent this cancer)
What tumor supressor gene is mutated in breast and ovarian cancer?
BRCA-1
What gene is mutated in breast, coon and lung carcinomas?
p53
In what conditions will we see an increased alpha-fetoprotein, a tumor marker?
Hepatoma (hepatocellular carcinoma), Multiple Gestation, Neural tube defect (ex. = spina bifida, anencephalus), yolk sac tumor/ endodermal sinus disease
If Alpha fetoprotein (AFP) is low in a pregnant woman, what should we be concerned about?
Down's Syndrome
What does an elevated CEA tell us about the state of a mass in a pt?
CEA = carcinoembryonic antigen. There may be an adenocarcinoma.
Pt has an elevated PSA. What is this tumor marker used for?
PSA = prostate specific antigen. prostate cancer
Pt has an elevated acid phosphatase. What tumor are we concerned about this pt having?
prostate cancer
Alkaline Phosphatase is used to track or diagnose tumors produced in different places. What places?
Bone - Bone Cancer - Alkaline Phosphatase produced in growing bone, so kids and adolescents will naturally have high alkaline phosphatase. Also, pple with fractured bone will have inc. alkaline phosphatase
Kidneys - Renal cell carcinoma
Placenta
Biliary System - to Dx NON-Neoplastic disease of biliary system, like gallbladder infection

Alkaline Phosphatase is normally produced in all these places.
Pt has an increased 5'-HIAA (5'=hydroxyindole acetic acid). What cancer are we concerned about?
carcinoid
Pt has an increased CA 19-9. What cancers are we concerned about?
Colon, Pancreatic or Breast cancer
Pt has an increased CA 125. What cancer are we concerned about?
Ovarian cancer
Pt has an increased CD 25. What cancer are we concerned about?
Hairy Cell leukemia
Pt has an increased CD 30. What cancer are we concerned about?
Hodgkin's disease
Pt has an increased Neuron-specific endolase. What cancer are we concerned about?
Small cell lung cancer, Neuroblastoma
Pt has an increased Human Chorionic Gonadotropin (beta-hCG). What cancer are we concerned about?
Pregnancy, gestational trophoblastic disease (hydatidiform mole), choriocarcinoma
Whats the most common place for lung cancer to metastasize to?
Brain
Whats the most common place for breast cancer to metastasize to?
Bone
Define Hypophosphatemic rickets
X-linked dominant inherited dysfunction in vitamin D receptor --> bowed legs
Define Incontinentia pigmenti
X-linked dominant inherited disorder. Mini-teeth and patchy alopecia (hair loss)
If you do a punnet analysis of a family, and can't figure out the inheritance pattern (ie X-linked recessive, etc.) What two things should you consider?
De novo mutation = a new mutation that appears in a family where its never been before.

Mitochondrial inheritance - based on the fact that ALL mitochondrial DNA are passed from mother to offspring - the father NEVER passes mitochondrial DNA to offspring. Therefore, if EVERY offspring of a mother has a disorder, its probably this inheritance pattern, mitochondrial inheritance (ex. = Leber's optic neuropathy = bilateral blindness with onset sometime after age 15)
What will De Novo mutation look like in a pedigree?
In healthy parents, ONE of the progeny undergoes a spontaneous mutation
If a pt has a mitochondrial mutation, what tissues are more prone to damage?
Tissues that are the most ATP-dependent will be affected most

Ex. = retina = one of the most ATP-dependent tissues in the body
Two siblings inherited a mitochondrial mutation from their mother. One goes blind at age 16, the other goes blind at age 60. What can account for this?
Mitochondrial inheritance mutations are variable in their expression of the disease. This can be in terms of timing OR severity
Whats the most common lethal genetic disease of caucasians?
Cystic Fibrosis, due to mutation in CFTR gene = defect in chloride transmembrane movement in epi cells
Baby fails to pass a meconium in the first day of life. What two conditions are we worried about?
Cystic fibrosis or Down's syndrome
A pt presents with viscous mucus, recurrent respiratory infections, high NaCl in sweat and tears, Chronic pancreatitis (dysfunction of epi cells line pancreas = B islet cells destroyed = pancreatitis = type 1 like Diabetes), cholelithiasis (biliary ducts lined with epi, and malnutrition (due to poor bowel function from less pancreatic secretions = fatty stool, steatorrhea). They note that they did not pass a meconium until day 3 of life. What condition do they have?
Cystic Fibrosis
What bacteria are cystic fibrosis pts particularly susceptible to?
Pseudomonas aeruginosa - colonizes their lungs
What are the fat soluble vitamins?
ADEK

These are the vitamins we lose in cystic fibrosis because pancreatitis = lose pancreatic secretions, such as lipase = can't absorb fats = fatty stool, steatorrhea = lose fat-soluble vitamins ADEK
Define Phenylketonuria
Inability to metabolize phenylalanine = buildup of phenylalanine break down products and inability to make melanin and neurotransmitters Norepi and dopamine = leads to neurotoxicity = results in lighter complexion due to decreased melanin synthesis

We'll see lower levels of tryosine, which is made from phenylalanine
Define Albinism
Complete inability to make melanin, because tyrosine, made from phenylalanine, cannot be made into melanin
What will a deficiency in alpha-1-antitrypsin cause?
alpha-1-antitrypsin normally INHIBITS elastase, which breaks down elastin.

Without alpha-1-antitrypsin, elastase is fully active and digests all of the elastin, so tissues lose elastic recoil. The part of the body most affected is the lungs = lungs lose elastic recoil due to cirrhosis = lungs can be hyper-inflated ie emphysema results
Whats the underlying dysfunction in Thalassemia, sickle cell anemia, Beta-Thalassemia?
Abnormally structured Hemoglobin --> microcytic anemia
What are the glycogen storage disease, where there is an inability to utilize glycogen (=the storage form of glucose) normally?
Gierke disease, Pompe disease and McArdle disease

=these pts can make glycogen, they just can't "borrow from the bank" of glycogen to keep their glucose stable between meals
What keeps us from becoming hypoglycemic after a meal?
Glycogen. allows us to maintain normal glycemia between meals
What are mucopolysaccharidoses?
A group of disease due to a defect in lysosomes, so we can't degrade glycosaminoglycans = mucopolysaccharidoses (GAGs)

Mucopolysaccharides are critical to connective tissue = we start to form too much connective tissue, and can't break it down
What symptoms allow us to differentiate between Hurler, Scheie and Hunter mucopolyssaccharidoses?
Hurler and Scheie = Progressive Mental retardation (shceie is less-severe), corneal clouding

Hunter = Mental Retardation
Hunter mucopolysaccharidosis desplays what genetic transmission?
X-Linked recessive
If we can't metabolize sphingolipidoses, wt disorder do we have?
This is a type 1 lysosomal storage disease. We can't metabolize sphingolipids, a major component of the CNS and myelin.
A pt presents with a spingolipidoses disease, but NO CNS symptoms. Which Sphingolipidoses disease do they have?
Fabry's disease - this is the ONLY sphingolipidoses disease that present with NO CNS symptoms
What are the Sphingolipidoses diseases?
Neimann-Pick, Gaucher's, Krabbe's, Tay-Sachs, Metachromatic dystrophy, and Fabry's
Which is the Only Sphingolipidosis disease to NOT have CNS symptoms and is X-linked recessive?
Fabry's