what is the defect in Kartagener's syndrome? - symptoms?
dynein arm defect, causing cilia to be immotile - symptoms: infertility, bronchiectasis, recurrent sinusitis, situs inversus
mechanism of action of cardiac glycosides (digoxin and digitoxin)?
inhibit Na+/K+-ATPase, causing decreased Na+/Ca2+ exchange - more Ca2+ in cell causes increased cardiac contractility
location of the different types of collagen
Be (So Totally) Cool, Read Books type I: Bone, Skin, Tendon (type I: bONE) type II: Cartilage (carTWOlage) type III (Reticulin): blood vessels, uterus, fetal tissue type IV: Basement membrane (type IV: under the floor)
what is the defect in scurvy?
vitamin C deficiency, so can't hydroxylate proline and lysine residues in collagen
what is the defect in Ehlers-Danlos syndrome? - which type of collagen is most affected? - symptoms?
faulty collagen synthesis, especially type III collagen - symptoms: hyperextensible skin, tendency to bleed, hypermobile joints
what is the defect in osteogenesis imperfecta? - which type of collagen is most affected? - symptoms?
abnormal type I collagen synthesis - symptoms: multiple fractures with minimal trauma (brittle bones), blue sclerae, hearing loss, dental imperfections
what is the defect in Alport's syndrome? - which type of collagen is most affected? - symptoms?
abnormal type IV collagen synthesis - symptoms: hereditary nephritis, deafness, ocular disturbances (type IV collagen found in kidney, ears, and eyes)
what is the defect in Marfan's syndrome?
mutation in fibrillin (component of elastin)
what disease can be caused by alpha1-antitrypsin deficiency? - why does this occur?
emphysema - due to excess elastase activity (alpha1-antitrypsin normally inhibits elastase)
what blotting procedures are used to probe for DNA, RNA, and protein?
SNoW DRoP: Southern = DNA Northern = RNA Western = Protein
Prader-Willi vs. Angelman's syndrome - inactivation of which parent's allele?
Prader-Willi - deletion of Paternal allele AngelMan's - deletion of Maternal allele
what is the defect in hypophosphatemic rickets (vitamin D-resistant rickets)? - what is the inheritance pattern?
phosphate wasting at proximal tubule - X-linked dominant
what is the primary symptom in Leber's hereditary optic neuropathy? - what causes this? - what is the inheritance pattern?
loss of central vision due to degeneration of retinal ganglion cells and axons - mitochondrial inheritance
what gene is mutated in achondroplasia?
fibroblast growth factor receptor 3
what gene is mutated in ADPKD? - what chromosome is it on?
APKD1 gene - on chromosome 16 (16 letters in "polycystic kidney")
what gene is mutated in familial adenomatous polyposis? - what chromosome is it located on?
APC gene - chromosome 5 (5 letters in "polyp")
what is the defect in familial hypercholesterolemia?
defective or absent LDL receptor
what is Osler-Weber-Rendu syndrome?
hereditary hemorrhagic telangiectasia - disorder of blood vessels
what is the defect in hereditary spherocytosis?
defect in spectrin or ankyrin
what chromosome is the mutation in Huntington's disease located on?
chromosome 4 (hunting 4 food)
what chromosome is the mutated gene in neurofibromatosis type 1 (von Recklinghausen's disease) located on? - symptoms?
chromosome 17 (17 letters in von Recklinghausen) - symptoms: cafe-au-lait spots, neural tumors, Lisch nodules (iris hamartomas)
what gene is mutated in neurofibromatosis type 2? - what chromosome is it on? - symptoms?
symptoms of 22q11 deletion syndromes - what is the cause? - 2 examples of syndromes?
CATCH-22: Cleft palate Abnormal facies Thymic aplasia (causes T cell deficiency) Cardiac defects Hypocalcemia due to parathyroid aplasia - due to aberrant development of 3rd and 4th branchial pouches - examples: DiGeorge syndrome, velocardiofacial syndrome
vitamin A - other name? - function?
retinol - constituent of visual pigments (retin-A)
vitamin B1 - other name? - what cofactor does it make? - what types of reactions does this assist in? - what diseases are caused by deficiency?
thiamine - TPP - for dehydrogenase reactions - beriberi (Ber1Ber1) and Wernicke-Korsakoff syndrome
vitamin B2 - other name? - what cofactors does it make? how many ATP? - symptoms of deficiency?
riboflavin - FAD and FMN (derived from riboFlavin) - FAD makes 2 ATP (B2) - 2 C's: Cheilosis, Corneal vascularization
vitamin B3 - other name? - what cofactor does it make? how many ATP? - what disease is caused by deficiency? symptoms?
niacin - NAD (derived from Niacin) - 3 ATP (B3) - pellagra - 3 D's: Diarrhea, Dermatitis, Dementia
vitamin B5 - other name? - what cofactor does it make?
pantothenate - CoA (from pantothen-A)
vitamin B6 - other name? - what types of reactions does it participate in?
pyridoxine - transamination and decarboxylation reactions
vitamin B12 - other name?
source of folate
green leaves (FOLate from FOLiage)
function of S-adenosyl-methionine
transfers methyl units (SAM the methyl donor man)
biotin - cofactor in what kind of reactions? - cause of deficiency?
carboxylation reactions - ingestion of raw eggs, which contain avidin (AVIDin in egg whites AVIDly binds biotin)
vitamin E - function?
antioxidant that protects erythrocytes and membranes from damage (E for Erythrocytes)
vitamin K - function?
needed for proper function of clotting factors II, VII, IX, and X and proteins C and S (K is for Koagulation)
disulfiram - mechanism of action?
inhibits acetaldehyde dehydrogenase, causing accumulation of acetaldehyde
kwashiorkor vs. marasmus - what are the causes and symptoms of each?
kwashiorkor - protein malnutrition - results from a protein-deficient MEAL: malnutrition, edema, anemia, liver fatty change marasmus - energy malnutrition - Marasmus results in Muscle wasting
cell processes that take place in both mitochondria and cytoplasm
HUGs take two: Heme synthesis Urea cycle Gluconeogenesis
hexokinase vs. glucokinase - what do they do? - where are they each located? - high or low affinity? - high or low Vmax?
both convert glucose to glucose-6-phosphate - hexokinase is everywhere and has high affinity and low Vmax - glucokinase is in liver and beta cells of pancreas - has low affinity and high Vmax
cofactors involved in pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase reactions
TPP (B1), FAD (B2), NAD (B3), CoA (B5), lipoic acid
purely ketogenic amino acids
Lysine and Leucine
substrates in TCA cycle
Citrate Is Krebs' Starting Substrate For Making Oxaloacetate: Citrate - Isocitrate - alpha-Ketoglutarate - Succinyl-CoA - Succinate - Fumarate - Malate - Oxaloacetate
enzymes unique to gluconeogenesis (all irreversible)
Pathway Produces Fresh Glucose: Pyruvate carboxylase PEP carboxykinase Fructose-1,6-bisphosphatase Glucose-6-phosphatase
purposes of HMP shunt
produce NADPH (for fatty acid/steroid biosynthesis and glutathione reduction to prevent oxidative damage) produce pentose sugars (for nucleotide synthesis)
what are Heinz bodies? - what disease do they occur in?
Heinz bodies = denatured Hemoglobin that precipitates within RBCs - occur in G6PD deficiency (oxidative damage)
what is the defect in fructose intolerance?
deficiency of aldolase B (converts fructose-1-P to DHAP and glyceraldehyde)
what is the defect in essential fructosuria?
deficiency of fructokinase (converts fructose to fructose-1-P)
what is the defect in classic galactosemia? - symptoms?
absence of galactose-1-phosphate uridyltransferase (converts galactose-1-P to glucose-1-P) - failure to thrive, infantile cataracts (galactitol accumulates in eye)
substrates in urea cycle
Ordinarily, Careless Crappers Are Also Frivolous About Urination: Ornithine - Carbamoyl phosphate - Citrulline - Aspartate - Argininosuccinate - Fumarate - Arginine - Urea
what is the defect in phenylketonuria? - symptoms?
decrease in phenylalanine hydroxylase (converts Phe to Tyr) or in THB cofactor - mental/growth retardation, fair skin, musty body odor (disorder of aromatic aa metabolism causes musty body odor)
what is the defect in alkaptonuria? - symptoms?
deficiency of homogentisic acid oxidase (involved in Tyr degradation) - dark connective tissue, pigmented sclera, urine turns black on standing
what is the defect in albinism?
deficiency of tyrosinase or defective tyrosine transporters (so can't make melanin from tyrosine)
what is the defect in homocystinuria?
defect in cystathionine synthase (in pathway converting homocysteine to cysteine) or in homocysteine methyltransferase (converts homocysteine to methionine) - both cause excess homocysteine
what is the defect in cystinuria? - what can result?
defect of renal proximal tubule transporter for cysteine - excess cystine in urine can cause precipitation of cystine kidney stones
what is the defect in maple syrup urine disease? - symptoms?
defect in alpha-ketoacid dehydrogenase, which degrades branched amino acids (Ile, Leu, Val - I Love Vermont maple syrup from the branches of maple trees) - urine smells like maple syrup, CNS defects
what enzyme deficiency is a major cause of SCID? - what patient population gets SCID?
adenosine deaminase deficiency (excess ATP imbalances nucleotide pool and prevents DNA synthesis) - SCID happens to kids
what is the defect in Lesch-Nyhan syndrome? - symptoms?
absence of HGPRT (He's Got Purine Recovery Trouble) - enzyme of purine salvage pathway, so block leads to excess uric acid - retardation, self-mutilation, gout
what is the defect in orotic aciduria? - findings?
inability to convert orotic acid to UMP (in de novo pyrimidine synthesis pathway) - orotic acid in urine, megaloblastic anemia
function of insulin with regard to glucose
Insulin moves glucose Into cells
tissues that don't need insulin for glucose transport
failure of urethral folds to close - causes abnormal opening of penile urethra on inferior side of penis (hypo is below)
what is the defect in epispadias? - what condition is associated with epispadias?
faulty positioning of genital tubercle - causes abnormal opening of penile urethra on superior side of penis (Epispadias - you hit your Eye when you pEE) - Extrophy of the bladder is associated with Epispadias
only bacteria with a protein capsule
bacteria that do not Gram stain well
These Rascals May Microscopically Lack Color: Treponema Rickettsia Mycobacteria Mycoplasma Legionella pneumophila Chlamydia
what does PAS stain for? - what does it diagnose?
glycogen and mucopolysaccharides (PASs the sugar) - Whipple's disease
name 4 obligate aerobes
Nagging Pests Must Breathe: Nocardia Pseudomonas aeruginosa (P. AERuginosa is an AERobe) Mycobacterium tuberculosis Bacillus
what drug is used to treat cryptococcal meningitis? why?
fluconazole - can cross blood-brain barrier
flucytosine - mechanism of action? - use? - side effect?
blocks DNA synthesis - systemic fungal infections - bone marrow suppression
caspofungin - mechanism of action?
blocks synthesis of beta-glucan (part of fungal cell wall)
terbinafine - mechanism of action?
inhibits fungal squalene epoxidase (part of ergosterol synthesis)
griseofulvin - mechanism of action?
blocks mitosis by interfering with microtubule function
amantadine - mechanism of action? - used to treat? - side effects?
blocks viral uncoating (a man to dine takes off his coat), increases dopamine release - Amantadine - used to treat influenza A and rubellA and Parkinson's - ataxia, slurred speech (causes problems with the cerebellA)
zanamavir/oseltamavir - mechanism of action?
inhibit influenza neuraminidase
ribavirin - mechanism of action? - used for? - side effect?
GTP analog - inhibits viral DNA polymerase - HSV, VZV, EBV
ganciclovir - mechanism of action? - used for? - side effects?
GTP analog - inhibits viral DNA polymerase - CMV - leukopenia, neutropenia, thrombocytopenia
foscarnet - mechanism of action? - how is it unlike acyclovir and ganciclovir? - side effect?
pyrophosphate analog (FOScarnet = pyroFOSphate analot) - viral DNA polymerase inhibitor - does not need to be activated by viral kinase to work - nephrotoxic
what class of drugs are saquinavir, ritonavir, indinavir, etc.? - side effects?
HIV protease inhibitors (NAVIR TEASE a proTEASE) - hyperglycemia, lipodystrophy
what class of drugs are zidovudine, didanosine, zalcitabine, stavudine, etc.?
HIV nucleoside reverse transcriptase inhibitors (have you dined/vudine with my nuclear/nucleoside family?)
name 3 HIV non-nucleoside reverse transcriptase inhibitors
Never Ever Deliver nucleosides: Nevirapine Efavirenz Delavirdine
side effects of HIV reverse transcriptase inhibitors
bone marrow suppression, peripheral neuropathy, lactic acidosis, rash, megaloblastic anemia
name an HIV fusion inhibitor - mechanism of action?
enfuvirtide - binds viral gp41 and blocks conformational change necessary for fusion with CD4
antibiotics to avoid in pregnancy
SAFE Moms Take Really Good Care: Sulfonamides Aminoglycosides Fluoroquinolones Erythromycin Metronidazole Tetracyclines Ribavirin Griseofulvin Chloramphenicol
where do T cells and B cells mature?
T cells = Thymus B cells = Bone marrow
what HLA genes encode MHC I? - MHC II?
MHC I - A, B, C (HLA I letter) MHC II - DR, DP, DQ (HLA II letters)
location of MHC I vs. II
MHC I - on all nucleated cells MHC II - only on APCs
cytotoxic vs. helper T cells - which has CD4 and which has CD8? - which MHC class do they each bind to?
cytotoxic T cells - CD8 (binds MHC I) helper T cells - CD4 (binds MHC II) (product of CD and MHC = 8)
what are the 2 signals needed for Th cell activation?
1. MHC II presents antigen to TCR 2. B7 on APC binds CD28 on T cell
what are the 2 signals needed for Tc cell activation?
1. MHC I presents antigen to TCR 2. IL-2 from Th cell signals Tc cell to kill
what are the 2 signals needed for B cell class switching?
1. IL-4, IL-5, or IL-6 from Th2 cell 2. CD40 receptor on B cell binds CD40 ligand on Th cell
characteristics of Fc portion of antibody
Constant Carboxy terminal of heavy chain Complement-binding area Carbohydrate side chains
3 functions of antibodies
1. opsonization 2. neutralization 3. complement activation (enhances opsonization and lysis of antigen)
which immunoglobulin is found in mucous membrane secretions?
which immunoglobulin can be a dimer? - which a pentamer?
dimer: IgA pentamer: IgM
which immunoglobulin mediates type I hypersensitivity?
what is an Ig allotype? - isotype? - idiotype?
allotype - epitope that differs among members of the same species (ALLotypes = different ALLeles) isotype - epitope common to a single class of Ig idiotype - epitope determined by antigen-binding site
what is a thymus-independent antigen? - what type of Ig is secreted in response?
no peptide component - IgM only (can't be presented on MHC to T cells, so no T cell activation of B cells for class switching)
what are the functions of IL-1-5?
hot T-Bone stEAk: IL-1 - inflammatory response, fever (hot) IL-2 - stimulates T cells IL-3 - stimulates Bone marrow IL-4 - stimulates IgE production IL-5 - stimulates IgA production
what is the function of IL-8? - what is it secreted by?
recruits neutrophils to clear infections (clean up on aisle 8) - secreted by macrophages
what activates the classic complement pathway?
IgG or IgM (GM makes classic cars)
what is the function of decay-accelerating factor (DAF) and C1 esterase inhibitor? - what does deficiency of each cause?
prevent complement activation on self-cells - deficiency of C1 esterase inhibitor - hereditary angioedema - deficiency of DAF - paroxysmal nocturnal hemoglobinuria (complement-mediated lysis of RBCs)
what is the function of C3b?
opsonization (C3b Binds Bacteria)
what is the function of C3a and C5a?
C3a, C5a - Anaphylaxis
what does deficiency of C5-C8 predispose to?
what are the functions of interferons?
interferons interfere with virus activity in uninfected cells: - alpha- and beta-interferons cause production of viral protein-inhibiting ribonuclease - gamma-interferons stimulate MHC I and II expression - also activate NK cells
with what infections are patients given preformed antibodies (passive immunity)?
given antibodies To Be Healed Rapidly: Tetanus toxin Botulinum toxin HBV Rabies virus
what cytokine plays a major role in granulomas? - what secretes it? - what does it do?
IFN-gamma - secreted by Th1 cells - stimulates macrophages
what are the 4 types of hypersensitivity reactions?
ACID: I - Anaphylactic and Atopic II - Cytotoxic (antibody-mediated) III - Immune complex IV - Delayed (cell-mediated)
what is serum sickness? - what type of hypersensitivity reaction? - how is the Arthus reaction different?
antibodies to foreign serum protein or drug form - immune complexes deposit in tissues and fix complement - tissue damage - type III hypersensitivity - Arthus reaction - local intradermal injection of antigen, so complexes formed locally in skin
what initiates type IV hypersensitivity reactions? - give 3 examples
phenoxybenzamine and phentolamine - mechanism of action? - used for? - what is the difference?
nonselective alpha blockers - pheochromocytoma - phenoxybenzamine is irreversible, phentolamine is reversible
prazosin, terazosin, doxazosin - mechanism of action?
selective alpha1 blockers
mirtazapine - mechanism of action? - used for?
selective alpha2 blocker - depression
name 5 selective beta1 antagonists
A BEAM of beta1 blockers: Acebutolol Betaxolol Esmolol Atenolol Metoprolol
name 2 non-selective alpha and beta antagonists
name 2 partial beta agonists
Partial beta Agonists: Pindolol Acebutolol
antidote for methemoglobin toxicity
METHylene blue (for METHemoglobin), vitamin C
symptoms of lead poisoning - treatment?
LEAD: Lead Lines on gingivae (Burton's lines) Encephalopathy, Erythrocyte basophilic stippling Abdominal colic, sideroblastic Anemia Drops (wrist and foot drop) - treatment: dimercaprol and EDTA, succimer for kids (it sucks to be a kid with lead poisoning)
which pathway in basal ganglia does each type of dopamine receptor act on?
D1 receptors stimulate the excitatory pathway D2 receptors inhibit the inhibitory pathway
what is the defect in Parkinson's disease? - symptoms? - characteristic pathology?
degeneration and depigmentation of the substantia nigra pars compacta (loss of dopaminergic neurons - so decreased stimulation of basal ganglia) - TRAP: Tremor at rest, cogwheel Rigidity, Postural instability - Lewy bodies
what is the defect in hemiballismus?
contralateral subthalamic nucleus lesion - so loss of inhibition of thalamus
what is the defect in Huntington's disease?
expansion of CAG repeats - atrophy of caudate nucleus
what is athetosis? - what is it characteristic of?