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USMLE World:

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Questions

Infantile hydrocephalus -> macrocephaly, hypertonicity + hyperreflexia


(stretching of periventricular pyramidal tracts)

Triple Test
serum AFP first think dating error (underestimation of gestational
age) -> confirm w/US; then neural tube and ant abdo wall defects
(gastroschisis/omphalocele), mult gestation
AFP Downs, other trisomies
Estriol placental insufficiency
hCG hydatidiform mole, choriocarcinoma, mult gestation
Fragile X
>200 CGG repeats gene methylation
Mental retardation, macroorchidism, protruding ears, long thin face,
arched palate
Schwannoma Verocay bodies, cerebellopontine angle, NF2, S100+

SCID Thymic hypoplasia/aplasia, absent CD3+ T cells,


hypogammaglobulinemia
Mucocutaneous candidiasis, diarrhea, FTT
X-linked defective IL2-R gamma chain
AutR Adenosine deaminase deficiency

Bruton X-linked agammaglobulinemia - mature B cells


(CD19, 20, 21); pyogenic encapsulated bacteria (Strep
pneumo, HiB)
SHiNE SKiS

Selective IgA deficiency failure of B cells to switch IgM


IgA
Recurrent sinopulmonary, GI infections (lack of secretory IgA)

Hairy Cell Leukemia


Lymphocytes w/cytoplasmic projections
Marrow fibrosis (DRY TAP) Pancytopenia
+TRAP stain, flow cytometry

Acute stress disorder = PTSD < 4wks duration


Flashbacks, sleep disturbance, hyper-vigilance, social detachment

Acetylcholine, Bradykinin, Serotonin, Substance P, Shear Stress


ARGININE + O2 NO + CITRULLINE (via Ca2+ eNOS)
NO GTP cGMP (via GUANYLATE CYCLASE)
VASODILATION

Pleiotropy variety of potential phenotypes from single


gene
Incomplete penetrance not all show mutant phenotype
Heteroplasmy different organellar genomes in same cell
(e.g., mitochondrial disease)

Correction of metabolic
acidosis
1. HCO3- reabsorption
2. H+ secretion
H+/Na+ antiporter in PCT
H+/ATPase & H+/K+/ATPase in DCT

3. H+ buffer excretion
HPO4 (+ H+ = H2PO4-)
NH3 (+ H+ = NH4+)

TYPES OF EXOCRINE GLANDS

Merocrine

Secretion via
exocytosis

Salivary
Eccrine sweat
Apocrine sweat

Apocrine

Via membranebound vesicles

Mammary

Holocrine

Cell lysis
release of
cytoplasmic
contents

Sebaceous
Meibomian

Inflammatory acne keratinization of hair follicle -> keratin plug


-> obstruction of sebum -> hypertrophy of sebaceous gland ->
colonization w/Proprionibacterium acnes -> hydrolysis of
triglycerides in sebum -> release of Fas -> inflammation

Campylobacter from puppy


Black gallstones = extravascular hemolysis (e.g., sickle cell, Betathalassemia, hereditary spherocytosis)
Mycobacteria need cord factor for virulence
Cord factor mycoside = 2 mycolic acids bound to trehalose
disaccharide
Inactivates neutrophils, damages mitochondria releases TNF

Bacteria grow in serpentine pattern; acid fast

Galactosemia impaired metabolism Galactose-1-phosphate


Vomiting, lethargy, jaundice, FTT, infantile cataracts (from galactitol)

Fructose Intolerance impaired metabolism Fructose-1-phosphate


Vomiting, hypoglycemia, FTT, hepatomegaly, jaundice; Rx no fructose!

Exclusive breast fed babies


Need Vit D + K supplementation; esp D for Dark skin

Unfractionated heparin both Factor Xa and Thrombin


LMW heparin mostly Factor Xa
P-glycoprotein = MDR1
Mechanism of antineoplastic drug resistance
ATP-dependent cell surface transporter pumps out drug

Propionyl CoA carboxylase deficiency


Propionic acidemia (from catabolism of branched AA,
threonine, methionine, cholesterol, odd-chain fatty acids
Presents w/poor feeding, vomiting, hypotonia, lethargy,
dehydration, anion gap acidosis

Benzo while waiting for SSRI initiation


Triazolam = short-acting (<6 hrs)
Lorazepam = intermediate (6-24 hrs)
Diazepam, etc = long-acting (>24 hrs)

Multiple myeloma
B cells plasma cells monoclonal IgG light chain
fragments
Rx proteasome inhibitor [Bortezomib (boronic acid
containing)]

Somatostatin inhibits CCK biliary stones


Also insulin and glucagon hyper/hypoglycemia

Familial dysbetalipoproteinemia (type III)


Xanthoma, CVD, PVD
ApoE3 and ApoE4 defect inability to remove
chylomicrons, VLDL

Catecholamine Synthesis
PHENYLALANINE
TYROSINE

Phenylalanine hydroxylase +
BH4
Tyrosine hydroxylase + BH4

DOPA
(DIHYDROXYPHENYLAL
ANINE)

DOPAMINE
NOREPINEPHRINE
EPINEPHRINE

DOPA decarboxylase + vit B6


Dopamine -hydroxylase +
vit C
PNMT (phenylethanolamineN-methyltransferase) + SAM

CORTISOL +
[from ADRENAL
CORTEX (zona
fasciculata)]

Chromaffin cells (neural crest) of ADRENAL MEDULLA


(under direct sympathetic stimulation via Ach/nicotinic

21-HYDROXYLASE DEFICIENCY

Degree of
deficienc
y

Classic, saltwasting

Classic, not saltwasting

Non-classic,
delayed

Severe

Moderate

Mild

Presentat Girl: ambiguous


ion
genitalia
(clitoromegaly)
@birth

Girl: ambiguous
genitalia @birth
Boy: precocious
puberty @2-4yrs

Boy: FTT,
dehydration,
hyperkalemia,
@1-to suppress ACTH (
Rx hyponatremia
low does steroids
2wks old
Testosterone)

Premature
pubarche or
sexual precocity
in school-aged
children
Young women
w/acne,
hirsutism,
menstrual
irregularity

Hypertensive emergency
Fenoldopam selective D1 agonist (no alpha or beta effect);
renal, coronary, mesenteric vasodilation; BP NATRIURESI
Wide, fixed splitting S2 = ASD
MEN syndromes (AutD)
1 MEN1 tumor suppressor
3 Ps tumors: Parathyroid, Pituitary, Pancreatic endocrine

2A RET oncogene
2 PM: Parathyroid, Pheochromocytoma, Medullary thyroid (C cell)

2B RET oncogene
1 PMN: Parathyroid, Pheochromocytoma, Neuromas (mucosal)
Marfanoid habitus

Candidiasis (budding yeast w/pseudohyphae)


Superficial (oral/esophageal, cutaneous) T H lymphocytes HIV
Disseminated (candidemia, endocarditis) Neutrophils Chemotherapy
Coccidioides
Spherule filled w/round endospores on 10%KOH/silver stain, Sabouraud agar
CXR infiltrate, pleural effusion, hilar adenopathy
Flu-like, pneumonia (fever, cough), disseminated (HIV); desert endemic
Dengue (FLAVA FLAVE = +SS RNA w/envelope)
Classic: retro-orbital pain; flu-like (fever, myalgia, joint pain) = BREAK-BONE FEVER;
macular rash
Hemorrhagic: diff serotype (DENV 1-4), thrombocytopenia (+ tourniquet test);
spontaneous bleeding ( SHOCK)
E. coli
Lactose galactose+glucose via -galactosidase (MacConkey=pink, EMB=green
sheen)

Panic Disorder
Palpitations, chest pain, SOB, trembling, paresthesias, fear of dying
Rx: acute benzos, chronic SSRI/SNRI/CBT

HiB
Vaccine = polyribose-ribitol-phosphate (PRP) capsule conjugate w/tetanus or diphtheria toxoid
T cell mediated w/IgM -> IgG switching; and memory B cells

Vancomycin Resistant Enterococcus


Change vanc binding site from D-alanyl-D-alanine to D-alanine-D-lactate terminus in cell wall
peptide
Allows formation of peptidoglycan

Streptomycin
Aminogylcoside (inactivates 30s) protein synth
Requires O2 for uptake only works on AEROBES
Resistance: alter ribosomal binding sites
Anaerobic coverage
Clindamycin above diaphragm
Metronidazole below
PipTaz (piperacillin-tazobactam)
Concurrent tazobactam as beta-lactamase inhibitor
Protection against PEcK Pseudomonas, E coli, Klebsiella
3rd gen cephalosporins w/built-in beta-lactams

Pseudomonas
Gram, oxidase+, non-lactose fermenting, aerobic rod
Rx piperacillin, ticarcillin

HSV1
Ulcerative gingivitis + fever + cervical
lymphadenopathy in a toddler
Tzanck smear w/Wright-Giemsa stain multinucleated
giant cells

Clostridium gram+, anaerobic, spore-forming


Botulinum
Flaccid, floppy baby paralysis (honey)
Heat-labile toxin inhibits Ach release @NMJ
Adults eat preformed toxin, babies eat spores; Rx antitoxin

Tetani
Spastic paralysis w/trismus and risus sardonicus
Exotoxin = protease cleaving SNARE proteins for neurotransmitters
Inhibits GABA + glycine release @Renshaw cells (spinal cord)

Prevent w/vaccine; Rx antitoxin, booster, diazepam for spasm

Difficile
Diarrhea, pseudomembranous colitis via Toxin B
Toxin A = enterotoxin brush border of gut
Toxin B = cytotoxin cytoskeletal disruption via actin depolymerization
Dx PCR stool toxin; Rx vanc or metro, fecal transplant
Perfringens
Gas gangrene (myonecrosis) and hemolysis (double-zone on blood agar)

Small (Oat) Cell Carcinoma


Poorly differentiated = aggressive; smokers; central
4 As: ACTH, siADH, Antibodies against presynaptic Ca2+
(Lambert-Eaton), Amplification of myc
Neuroendocrine Kulchitsky cells = Chromogranin A+
Brachiocephalic vein obstruction
Ipsilateral face, neck, and arm swelling (engorgement of
veins)
Southern Blot = DNA mutations

EXAMPLE

HR

Contractilit
y

SVR

1 agonist

Phenylephrin
e
Midodrine

(reflex)

(reflex)

1
antagonist

Prazosin
Terazosin
Doxazosin

(reflex)

2 agonist

Clonidine
-methyldopa

(CNS)

(via central
receptors)

agonist

Isoproterenol

1
antagonist

Atenolol
Metoprolol

D1 agonist

Fenoldopam

DRUG

(reflex)

(2 effect)

HYPERTENSION
+ HYPOKALEMIA
(<3.5)

RENIN
ALDOSTERON
E
2
HYPERALDOSTERO
NISM
Renovascular HTN
Malignant HTN
Reninoma (JG cell
tumor)
Diuretics

RENIN
ALDOSTERO
NE

RENIN
ALDOSTER
ONE

1
HYPERALDOSTERONI
SM
Aldosterone-secreting
tumor
Bilateral adrenal
hyperplasia

NONALDOSTERONE
Congenital
adrenal
hyperplasia
Steroidsecreting
adrenal tumor
Cushing
syndrome

Multiple Sclerosis
Rx Baclofen (and tizanidine 2 agonist) for spasticity
GABAB receptor agonist @ spinal cord level skeletal
muscle relaxation

Mitochondrial Myopathies
Blotchy RED RAGGED muscle fibers
on Gomori trichome stain
0% inheritance from affected male
Myoclonic Epilepsy w/Red Ragged Fibers
(MERRF)
Leber Optic Neuropathy (blindness)
Mitochondrial Encephalopathy w/
Stroke-like Episodes and Lactic Acidosis
(MELAS)

RNA Virus Virulence


SS+ > than SS- or dS b/c latter need enzymes for infection
Adenovirus
Naked dS linear DNA
Febrile pharyngitis, conjunctivitis, pneumonia, hemorrhagic cystitis
DRESS Syndrome (Drug Reaction w/Eosinophilia + Systemic
Symptoms)
Typically following anticonvulsants (phenytoin, carbamazepine),
allopurinol, sulfonamides, vancomycin
Fever, generalized lymphadenopathy, facial edema, diffuse rash
RPGN = FIBRIN in BOWMANS SPACE

Type IV Delayed Hypersensitivity


Antigen taken up by dendritic cells presented to
CD4+ TH cells MHC II TH1 releases interferon-
recruit neutrophils monocyte infiltration (e.g., effect
of granuloma in TB)
Myasthenia Gravis
Eyes tired at end of day
Ptosis, diplopia, weakness
Associated w/thymoma, thymic hyperplasia
Autoantibodies against post-synaptic ACh receptor
Rx Cholinesterase inhibitors: physostigmine,
neostigmine, pyridostigmine, edrophonium acutely
(Tensilon test)

Lobar pneumonia
STAGE

MACRO

MICRO

Congestion (first
24hrs)

Lobe = red, heavy,


boggy

Vascular dilatation
Alveolar exudate
w/bacteria

Red Hepatization (23 days)

Red, firm lobe (liverlike)

Alveolar exudate
w/RBCs, neutrophils,
fibrin

Gray Hepatization
(4-6 days)

RBCs disintegrate
Gray-brown, firm lobe Exudate w/neutrophils +
fibrin

Resolution

Normal architecture

Enzymes digest exudate

Extrahepatic Biliary Atresia


Intrahepatic bile duct proliferation, portal tract edema + fibrosis,
parenchymal cholestasis
Light (acholic) stools + dark urine; jaundice (around wk3-4 of life)
direct + total bilirubin GGT ALP
Point mutation
Silent mutation: UCA (serine) UCU (serine)
Missense mutation: UUU (phenylalanine) UCU (serine)
Nonsense mutation: UCA (serine) UAA (stop codon)
Frameshift insertion: CAG CCC ACT CAG TCC CAC T
Cystic Fibrosis
Autosomal recessive; F508 deletion of phenylalanine of CFTR;
chrom 7

Development
Testosterone internal male genitalia,
spermatogenesis,
puberty (muscle mass,
libido)
DHT external male genitalia, prostate growth,
male-pattern
baldness (type 1), amplifies T
effects (high affinity for TR)
Estrogen endometrial proliferation, ovarian
granulosa cell development, breast
development

PRIMARY CILIARY
DYSKINESIA
PATHOGEN
ESIS

CYSTIC FIBROSIS

Dynein arm defect abnormal CFTR mutation on Chrom


ciliary motion + impaired
7 impaired ion
mucociliary clearance
transport

PRESENTAT Chronic sinopulmonary infections Chronic sinopulmonary


Bronchiectasis
infections
ION

Dx

Situs inversus (50% of cases)


Infertility (immotile
spermatozoa)
Dysfunctional fallopian cilia

Bronchiectasis
Pancreatic insufficiency
Infertility (absent vas
deferens)
azoospermia

Low nasal NO levels


Bronchoscopy + EM visualization
of cilia
Genetic testing

Sweat Cl- levels


Abnormal nasal
transepithelial potential
difference
Genetic testing (Aut
Recessive)

TB Rx
DRUG

MOA

SIDE EFFECTS

Rifampin

Inhibits bacterial
DNA-dependent
RNA polymerase

P450 inducer
Red-orange fluids
Hepatotoxity;
cytopenias

Isoniazid

Inhibits mycolic
acid synthesis
(ACID-FAST)

Hepatotoxicity
Neurotoxicity (give
B6)

Pyrazinamide

UNKNOWN

Hepatotoxicity
Hyperuricemia

Ethambutol

Inhibits
arabinosyltransferase

Optic neuropathy
Red-green color
blindness

MRSA
DRUG

Vancomycin

Daptomycin

MOA

SIDE
EFFECTS

Bacteriocidal
Blocks cell wall glycopeptide
polymerization by binding Dala-D-ala

Red Man
Syndrome
Nephrotoxicity
Ototoxicity
Thrombophlebiti
s

Creates transmembrane
channels in gram+ cocci
depolarizes membrane
NOT used for pneumonia
inactivated by surfactant

Linezolid

Binds to 50S protein


synthesis

Myopathy
Rhabdo CK

Thrombocytopen
ia
Optic neuritis
Serotonin
Syndrome

Motion at the hip


FLEXION
Iliopsoas
Rectus
femoris
Tensor
fascia lata

EXTENSION

ABDUCTION

Gluteus maximus
Hamstrings
Semitendinosu
s
Semimembran
osus
Biceps femoris
long head

Gluteus medius
Gluteus
minimus

ADDUCTION
Adductor
brevis
Adductor
longus
Adductor
magnus

Phencyclidine (PCP) and Ketamine (Special K)

NEONATAL ABSTINENCE SYNDROME


Pathophysiology

Withdrawal from transplacental opiates (mother


used during pregnancy)

Presentation

Neuro: irritability, hypertonia, jittery movements,


seizure
GI: diarrhea, vomiting, feeding intolerance
Autonomic: sweating, sneezing, tachypnea,
pupillary dilation

Rx

Opioid therapy: methadone, buprenorphine, etc.

CHRONIC GRANULOMATOUS DISEASE


Pathogene
sis

Inactivating mutation of NADPH OXIDASE


Impaired respiratory burst inhibits phagocytic
intracellular killing

Presentati
on

Recurrent infections of CATALASE POSITIVE


bacteria + fungi
Barnes & Noble PLACESS
Burkholderia
Nocardia
Pseudomonas
Listeria
Aspergillus
Candida
E. coli
Staph aureus
Serratia
Lungs, skin, lymph nodes, liver most commonly
involved
Diffuse granuloma formation

Dx

Measure NEUTROPHIL SUPEROXIDE


Dihydrorhodamine (DHR) flow cytometry
Nitroblue tetrazolium (NBT) dye reduction test =

Tricyclic action

Corresponding SE

Inhibition of presynaptic
neurotransmitter reuptake (5HT,
NE)

Tremor, insomnia

Blockade of cardiac fast Na+


channels

Conduction defects,
arrhythmias, hypotension

Antagonism of central +
peripheral muscarinic receptors
(anti-cholinergic)

Hyperthermia, flushing,
mydriasis, ileus, urinary
retention, sinus tachy

Antagonism of peripheral 1adrenergic receptors

Peripheral vasodilation
(orthostatic hypotension)

Antagonism of H1 receptors
(anti-histamine)

Sedation

DRUG CLASS
Anticholinergics
(M1)

EXAMPLES

USES

Scopolamine

Antihistamines (H1)

Diphenhydramine
Meclizine
Promethazine

D2 receptor
antagonists

Prochlorperazine
Metoclopramide

5-HT3 receptor
antagonists

Ondansetron
Granisetron

NK-1 (Neurokinin)
receptor
antagonists

Aprepitant
Fosaprepitant

Promethazine

Motion sickness

Hyperemesis
gravidarum

Chemotherapyinduced emesis

Sarcoidosis
Noncaseating granulomas (epithelioid cells [activated
macrophages] + multinucleated giant cells) , hilar
adenopathy, interstitial fibrosis
Erythema nodosum, serum: ACE CD4:CD8
HCC
Continued rise in AFP
MPGN
Type 1: C1q deposition; associated w/HBV+HCV
IgM binds to antigen conformational change exposure of
C1 binding site classical complement pathway activated

MURMUR MANEUVERS
Physiologic
maneuver

in cardiac
parameters

Murmurs that

Murmurs that

Inspiration

venous return
to R heart
venous return
to L heart

Right-sided
murmurs

Left-sided
murmurs

Valsalva strain
phase II

Mitral valve
prolapse (MVP)
Preload

Abrupt standing

Afterload

Squatting

Venous return
Preload
Afterload

Passive leg raise

Preload

Handgrip

Afterload

Hypertrophic
cardiomyopathy
HCM
( LV volume)

Most other
murmurs
( flow through
stenotic/incompe
tent valve)

Most other
murmurs ( flow MVP
through
HCM
stenotic/incompet ( LV volume)
ent valve)
AR, MR, VSD
( LV + aortic
pressure)

HCM ( LV
volume)
AS (
transvalvular

NORMAL
PRESSURE

MIN
mmHg

MAX
mmHg

R ATRIUM

R VENTRICLE

25

PULM ARTERY

25

L ATRIUM

12

L VENTRICLE

130

70

130

AORTA

WEDGE PRESSURE
(PCWP)

PULSUS PARADOXUS (>10 mmHg decrease on inspiration)


INSPIRATION VENOUS RETURN R HEART
VOLUME BOWING of INTERVENTRICULAR SEPTUM
into RV
LV END-DIASTOLIC
VOLUME + STROKE VOLUME
SYSTOLIC BP
Normally RV can expand into pericardial space, but
reduced in effusion
BECK TRIAD in tamponade = hypotension, JVP, muffled
heart sounds

ACUTE RHEUMATIC FEVER


Pathogenesis

Molecular mimicry
GABHS Ag (M protein) activates B +
T cells that are autoreactive against
homologous self-Ag
Anti-GABHS antibodies attack host Ag
on cardiac + neuronal tissue 2-4wks
post-pharyngitis

Presentation

Acute/subacute
Migratory arthritis
Pancarditis
Sydenham chorea
Chronic
Mitral regurg/stenosis

Prevention

Penicillin V

Carcinoid Syndrome
Clinical
manifestations

Skin: flushing, telangiectasia, cyanosis


GI: watery diarrhea, cramping
Resp: bronchospasm, SOB, wheezing
CV: valvular fibrous plaques (R > L)

Dx

24hr urinary 5-HIAA (5hydroxyindoleacetic acid)


CT/MRI abdo-pelvis for masses

Rx

Octreotide for symptoms


Surgery for liver mets

Octreotide = somatostatin analog


5-HIAA = metabolite of serotonin
Carcinoid tumor of enterochromaffin Kulchitsky
cells of small intestine

TYPE
Hyperac
ute

ONSET
Minutes to
hours

PATHOGENESIS
Preformed antibodies
to donor antigen
(TYPE II HS)
Complement activation

FINDINGS
Thrombosis of graft
vessels ischemia
Arterial fibrinoid
necrosis
Gross mottling and
necrosis
Rx remove graft

Acute

Weeks to <6
mos

Exposure to donor
antigen cellular
(CD8+ against donor
MHC) or humoral
(formation of antibodies)
activation

Cellular: lymphocytic
infiltrate and
endothelitis
Humoral: C4d
deposition, neutrophilic
infiltrate, necrotizing
vasculitis
Rx
immunosuppressants

Chronic

Months to
years

Chronic, low-grade
immune activation
CD4+ response to donor
peptides on APCs +
allogeneic MHC

T cells secrete
cytokines vascular
wall thickening +
luminal narrowing
Interstitial fibrosis +

Angiogenesis
Vascular endothelial growth factor (VEGF)
Anti-VEGF = bevacizumab (for colorectal + RCC)

Fibroblast growth factor (FGF)


Also embryogenesis, hematopoiesis, wound repair (chemotaxis)

Epidermal growth factor (EGF)


epithelial cells, fibroblasts, hepatocytes
Anti-EGFR = erlotinib (for non-small cell lung cancer)

Platelet-derived growth factor (PDGF)


Smooth muscle proliferation in atherosclerosis
Growth Hormone (GH)
Stimulates linear growth + muscle mass IGF-1
(somatomedin C)

insulin resistance diabetes


during sleep and exercise
glucose and somatostatin (Rx octreotide for acromegaly)

Congenital QT prolongation syncope Torsades SCD


Mutations in K+ channel protein delayed rectifier current
(IK)
Aut Recessive = Jervell & Lange-Nielsen syndrome
w/sensironeural deafness

Aut Dominant = Romano-Ward syndrome


no deafness

Ataxia Telangiectasia Mutation (ATM)


Recurrent sinopulmonary infections ( IgA)
Impaired DNA repair (non-homologous end pairing)
Increased risk of hematological malignancy
Eosinophilic granular inclusions with paleness = HEPATITIS B

Heparin-Induced Thrombocytopenia (HIT)


IgG antibodies to heparin-bound Platelet Factor IV
(PF4)
Widespread platelet activation thrombosis,
thrombocytopenia

Rx Direct thrombin inhibitors (dabigatran,


argatroban, hirudin)
Warfarin
Inhibits vit K-dependent -carboxylation of
glutamic acid residues on II, VII, IX, X

Pituitary
Sheehan Syndrome
vascularity of pituitary during pregnancy due to E feedback
Postpartum hemorrhage hypotension ischemic necrosis of pituitary
panhypopituitarism Prolactin ACTH TSH
No lactation, amenorrhea, fatigue, weight loss

Autoimmune hypophysitis
Both Ant+Post become inflamed in late preg/early postpartum
Headache, visual field defects, cortisol deficiency

Diabetes insipidus polydipsia, polyuria, dilute urine


Central
ADH administer desmopressin V2-mediated H20 + urea
reabsorption

Nephrogenic
ADH give amiloride blocks collecting duct Na+ channel, spares K+

FETAL EFFECTS OF GESTATIONAL DIABETES


Embryopathy

Congenital malformations (e.g.,


heart, neural tube defects)

Placental
vasculopathy

Asphyxia
Growth restriction
Polycythemia

Increased fetal
insulin

-cell hyperplasia
(hyperinsulinemia)
Macrosomia (>4kg)
Hypetrophic cardiomyopathy
Neonatal hypoglycemia

SPECIES

EPIDEMIOLOGY

PRESENTATION

LAB Dx (culture at
25C)

Sporothrix Gardening thorn


schenckii prick (rose
gardeners
disease)

Pustules, ulcers, and


subcut nodules along
lymphatics

Culture: branching
hyphae
Biopsy: round,
cigar-shaped
budding yeasts

Coccidioid SW US desert
es immitis areas
Mold in soil

Resp: flu-like, cough,


erythema nodosum
Disseminated:
meningitis, bone, skin

Culture: forms
hyphae
Biopsy: @37C thickwalled spherules
w/endospores

Histoplas
ma
capsulatu
m

OH & MS river
valleys
Soil, bird + bat
droppings

Resp: similar to TB
(granuloma
w/calcification)
Disseminated: lungs,
spleen, liver

Culture: branching
hyphae
Biopsy: oval yeast
cells w/in
macrophages

Blastomyc
es
dermatiti
dis

OH & MS river
valleys, Great
Lakes region
In soil.

Resp: pneumonia,
inflammatory lung
Disseminated:
common; skin and
bone

Culture: branching
hyphae
Biopsy: large, round
yeasts w/doubly
refractile wall +
single broad-based
bud

Dapsone (alternative to TMP/SMX)


Hemolytic anemia due to G6PD deficiency
Bite cells from removing Heinz bodies; reticulocytosis
Fatigue, jaundice, dark urine
Digoxin lengthens Phase 4 and 0 of cardiac AP
RNA Polymerase I transcribes 45SrRNA (rampant); in nucleolus
make 40S+60S subunits of ribosomes
Sirolimus (Rapamycin)
Kidney transplant
Binds FK506 binding protein (FKBP) inhibits mTOR
Disrupts IL-2 signaling pathway
Inhibits G1S phase and lymphocyte proliferation

Proteasome inhibitor = pro-apoptotic (e.g., Bortezomib)


POMC (proOPIOmelanocortin) gene products
ACTH, MSH, lipotropin, -endorphin (opioid receptors)

VACCINE

FAMILY

GENETICS

Measles, Mumps,
Rubella

Paramyxo,
Paramyxo, Toga

ssRNA -, -,
+

Smallpox

Poxvirus

dsDNA &
linear

Herpesvirus

dsDNA &
linear

Yellow fever

Flavivirus

ssRNA +

Rotavirus

Reovirus

dsRNA

Polio Sabin, Salk

Picornavirus

ssRNA +

Orthomyxovirus

ssRNA -

Rhabdovirus

ssRNA -

Picornavirus

ssRNA +

Hepadnavirus

dsDNA (circ
too)

Chickenpox
(VZV/HHV3)

Influenza
intranasal, inj
Rabies
HepA
HepB (surface Ag)

TYPE

LIVE

LIVE,
KILLED
KILLED

Vaccines bacterial
VACCINE
Strep
pneumoniae
H. influenzae
B
N.
meningitidis
Salmonella
typhi
BCG (M.
bovis)
C.
diphtheriae
C. tetani

TYPE
CONJUGATE
PCV
NONCONJ
PPSV
CONJUGATE
LIVE ORAL
CAPSULE IM
LIVE

TOXOID
(EXO)

MYOPATHY

PRESENTATION

CK

Glucocorticoidinduced

Progressive proximal
muscle weakness +
atrophy w/o pain
Lower > upper

Normal

Polymyalgia
rheumatica

Muscle pain + stiffness in


shoulder, neck, pelvis
Worse in morning +
w/activity

Normal

Skin rash +
Inflammatory
(poly-/dermatomy
inflammatory arthritis
ositis,
Proximal muscle weakness

Proximal muscle pain +


weakness w/in weeksmonths of starting statin

Statin-induced

Hypothyroid

Proximal muscle pain,


cramps, weakness
Delayed tendon reflexes +
myxedema

TYPE

MAJOR
LOCATIONS

DISTINCTIVE FEATURES

GLUT-1

RBCs
BBB

GLUT-2

Hepatocytes
Pancreatic -cells
Renal tubular
Regulation of insulin release
cells
Small intestine

GLUT-3

Placenta
Neurons

Placental & neuronal glucose


transport

GLUT-4

Skeletal muscle
cells
Adipocytes

Insulin-mediated glucose
uptake

GLUT-5

Spermatocytes
GIT

Fructose transport

Basal glucose transport

Muscarinic
agonism/antagonism
RECEPT
OR

GORGAN
PROTEIN
CLASS

STIMULATORY
EFFECT

INHIBITORY
EFFECT
Confusion

M1

Gq

Brain

Memory formation,
cognitive
functioning

M2

Gi

Heart

HR
HR
Atrial contraction Contractility

M3

Gq

Lungs

Bronchoconstriction Bronchodilation

Eyes

Miosis: pupillary
sphincter
contraction
Accommodation:
ciliary muscle
contraction

Mydriasis
Cycloplegia
Acute angle
glaucoma (lens
compresses iris)

Bladder

Detrusor
contraction

Detrusor
relaxation
(urinary retention)

GIT

Peristalsis

Constipation

HEMOGLOBIN ELECTROPHORESIS
Dx

Hb A

Hb S

Hb F

Normal

>99%

0%

<1%

Sickle cell
disease

0%

85-95%

5-15%

Sickle cell
trait

50-60%

35-45%

<2%

ANTIPHOSPHOLIPID SYNDROME
Presentatio Venous or arterial thromboembolism
DVT
n
PE
Ischemic stroke / TIA
Adverse pregnancy outcomes
Unexplained spontaneous abortion
Premature birth (placental insufficiency,
preeclampsia)
Laboratory

Lupus anticoagulant
Paradoxical aPTT prolongation not reversed
w/plasma mixing
Antiphospholipid antibodies
Anticardiolipin
Anti-2-glycoprotein

ACID-BASE
DISTURBANCE

pH

pC
O2

HCO3 Compensation
-

Metabolic
acidosis

Respiratory
acidosis

/N

Metabolic
alkalosis

Respiratory
alkalosis

/N

Immediate: hyperventilation
(CO2)
Delayed: HCO3- retention
(>30)
Immediate: hypoventilation
(CO2)

Delayed: HCO3- excretion


(<18)
CAUSES OF ANGIOEDEMA

pH:
pCO
: 33-45mmHg
Mast7.35-7.45
cell
Type
1 2HS
(IgE-mediated) pOPruritus
+
2: 75-105mmHg
activation
DirectHCO
activation
(e.g.,
urticaria
3: 22-28mEq/L
opioids)

Bradykinin
excess

ACE inhibitors
C1 esterase deficiency
(hereditary)

No pruritus or
urticaria

CYP450
INDUCERS

CYP450
INHIBITORS

Carbamazepin
e
Phenobarbital
Phenytoin
Rifampin
Griseofulvin

Cimetidine
Ciprofloxacin
Erythromycin
Isoniazid
Ritonavir
-Azoles
Grapefruit juice

COLLAGEN SUBTYPES
TYPE

LOCATION

ASSOCIATED
PATHOLOGY

Bone, dermis, tendon, ligament,


dentin, cornea, blood vessels,
scar tissue

Osteogenesis
imperfecta

II

Cartilage, vitreous humor,


nucleus pulposus

III

Skin, lungs, intestines, bone


marrow, blood vessels,
lymphatics, granulation tissue

Ehlers-Danlos types
3+4

IV

Basement membranes

Alport syndrome

INTESTINAL ATRESIAS
Duodenal

Jejunum/Ileum

Colonic

Pathophysio
logy

Failure of
recanalization @810wks gestation

Vascular injury

Unknown
(vascular?)

Presentatio
n

Bilious/nonbilious
Bilious emesis
emesis
Abdominal
Double-bubble
distension
sign Xray UREMIC SYNDROME
HEMOLYTIC

Association
Down syndrome
Gastroschisis
Etiology
Shiga toxin
s
E. coli O157:H7
Shigella

Constipation
Abdominal
distension
Hirschsprung
disease

Presentatio Antecedent diarrheal illness


n
Microangiopathic hemolytic anemia
w/schistocytes
Thrombocytopenia
Acute kidney injury

Hereditary Spherocytosis (E)


Epidemiolog
y

Autosomal dominant
Northern European

Pathogenesi
s

Defect in RBC membrane skeleton and plasma


protein
Spectrin, ankyrin, band 3, protein 4.2

Presentation

Hemolytic anemia
Jaundice
Splenomegaly

Lab findings

Mean corpuscular [Hb]


Osmotic fragility on acidified glycerol lysis
test
Negative Coombs test
Spherocytes on peripheral sphere

Rx

Splenectomy

Complicatio
ns

Pigmented gallstones
Aplastic crises from Parvovirus B19

Glaucoma drugs
DRUG CLASS

EFFECT ON AQUEOUS
HUMOR

Prostaglandins
Latanoprost
Travoprost

OUTFLOW

Cholinergic agonists
Pilocarpine
Carbachol

OUTFLOW

Carbonic anhydrase
inhibitors
Dorzolamide (topical)
Acetozolamide
(systemic)

PRODUCTION

Beta blockers
Timolol
Betaxolol

PRODUCTION

Alpha agonists

THROMBOTIC THROMBOCYTOPENIC PURPURA


PATHOPHYSIOL
OGY

ADAMTS13 (vWF metalloprotease) activity


Degradation of vWF multimers large vWF
multimers
Platelet adhesion Microvascular plateletrich thrombi
Acquire autoantibody or hereditary

PRESENTATION

Hemolytic anemia (LDH, haptoglobin)


Schistocytes (helmet cells)
Thrombocytopenia ( BT, normal PT/PTT)
Sometimes: renal failure, fever, neurological
deficits

Rx

Plasmapharesis, steroids

VIRION

CELL RECEPTOR

CMV

Cellular integrins

EBV

CR2 (CD21)

HIV

CD4 & CDXR4/CCR5

Rabies

Nicotinic ACh receptor

Rhinovir
us

ICAM1 (CD54)

SUPPURATIVE PAROTITIS
Risk factors

Salivary flow
Medications (anticholinergics)
Obstruction (calculi, neoplasm)
Dehydration
Intubation

Microbiology Staph aureus, anaerobes


Presentation Firm, erythematous pre/post-auricular swelling
Trismus, dysphagia, systemic (fever, chills)
Dx

Imaging: ductal inflammation/obstruction, frank


abscess
Lab: serum amylase w/o pancreatitis

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