Professional Documents
Culture Documents
High YIeld - DI Podcasts - READ ONLY
High YIeld - DI Podcasts - READ ONLY
High YIeld - DI Podcasts - READ ONLY
Table of Contents 1
Episode 97: “Most Important ” 2
Episode 239: OBGYN Risk Factors 3
Episode 250: HY Vaccine 4
Episode 251: The HY Thyroid Podcast 8
Episode 255 Legendary Step 2CK/3 Pharmacology 13
Episode 286 ULTRA HY ARDS Podcast 17
Episode 287 ULTRA HY Urinalysis Podcast 19
Episode 289 Ultra HY Alcoholic Podcast 21
Episode 304 Floridly HY Ortho/Trauma Podcast Part 2 27
Episode 305 Upper Limbs Rapid Review 1 30
Episode 308 Floridly High Yield NBME Cortisol 33
Episode 310 Floridly HY Knee Exam and Pathologies 38
Episode 313 Floridly HY Hyperkalemia 43
Episode 325 Extremely HY Screening Guidelines 46
Episode 339 HY Pulmonary Embolism 52
Episode 379 A Series of HY “Elderly Vignettes” 55
Episode 381 Some HY Pharmacology Vignettes 59
Episode 404 Floridly HY CXR (Chest X-Ray) 61
Episode 424 HY Rules For Remembering Inheritance Patterns 74
Episode 453 Quick Review HY Psych Timelines 75
Episode 455 HY Autosomal Dominant Disorders 77
Episode 460 Floridly HY Antibiotic Review I 77
Episode 461 Floridly HY Antibiotic Review II 80
Episode 97: “Most Important ”
MI = most important
MIPF = most important prognostic factor
#1 RF = most important risk factor
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Episode 239: OBGYN Risk Factors
● You see a newborn with hypothyroidism, what is the most common cause of this?
○ Thyroid dysgenesis (ie where thyroid doesn't properly form)
○ Baby will have large tongue, umbilical hernia
○ Side note: PTU/Methimazole in mom can suppress babies thyroid (they are
teratogenic afterall and cause aplasia cutis), don't freak out when you see these
babies hypothyorid levels, just chill for a few days and repeat exams and labs
later, they'll be fine once those drugs are out of their system
● PT is hypertyroid but RAIU shows no uptake at all, they recently had an URI and their
thyroid is tender, diagnosis?
○ Subacute Thyroiditis (also called De Quervains thyroiditis or granulomatous
thyroiditis, so it has multiple names to confuse you lol)
○ How to differentiate between De Quervains and a person who is taking
exogenous thyroid factiously (i.e. like a person trying to lose weight)?
■ So in DeQuervains there is a dump of thyroid hormone leading to
suppressed TSH and hence cold RAIU
■ Likewise exogenous thyroid also suppresses TSH and leads to cold
thyroid
■ The nbme won't be nice and say “hey they just had a URI and now their
thyroid is tender” so how to tell the difference?
■ Use Thyroglobulin (kind of like using “c-peptide” in insulinoma),
exogenous thyroid will not have thyroglobulin but pts with De Quervains
will have it (ie increased levels of it i think)
● PT has neck mass, biopsy reveals xys, what is the biggest Risk Factor for this condition?
○ Prior history of head or neck radiation!
■ Like they had hodgkins as a kid and got radiation, now have neck mass
■ Especially Papillary, which is the most common type of thyroid cancer,
● Papillary = Psammoma bodies, orphan annie nuclei on histology
● PT has Thyroid Cancer that metastasis to the brain, what type of thyroid cancer do they
most likely have?
○ Follicular Thyroid Cancer as it spreads hematogenously!
■ Papillary spreads through lymphatic channels so less likely to go to brain
then Follicular
■ (example like choriocarcinoma spreads hematogenously and goes
everywhere quick)
■ Papillary thyroid cancer has great prognosis unlike follicular
● Pt is like 70 (ie they're old, not like 30-40s) has widespread, firm neck, diagnoses?
○ Anaplastic thyroid cancer
○ Awful prognosis :(
● Pt is a 25 yo they're super sick, they've been in ICU, or they had bad sepsis, they're TSH
is fine, T4 is fine, T3 is low, diagnoses?
○ Euthyroid Sick Syndrome
○ Whenever someone that is very sick think this
○ They'll have normal TSH, normal T4, decreased T3, and increased reverse T3
(HY)
○ If patient is sick, losing a lot of weight, body needs to conserve energy, one way it
does this is by decreasing metabolic rates, via decreasing thyroid level (T3)
● Most common cause of hypothyroid on any human (not newborn) you see on an NBME
exam?
○ Hashimotos
■ T3 and T4 low, TSH is high
■ Usually question stem will give you history of some other autoimmune
disease
■ What if PT with hx of Hasimotos has rapidly expanding neck mass, biopsy
shows germinal follicles? Diagnoses?
● Thyroid Lymphoma
● Signs of Hypothyroid
○ Low heart rate (seen in a lot of nbme exams)
○ Decreased fertility, because if hypothyroid, TRH will go up, which increases
Prolactin, which decreases GnRH (sidenote antipsychotics ie dopamine blockers
work through similar mechanism to decrease fertility)
○
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Episode 255 Legendary Step 2CK/3 Pharmacology
● Blood drugs
○ antiplatelet/ anticoagulants
○ Anti-platelet
■ Who?
● Stroke or carotid stenosis (TIA)
○ 1st line drug?
■ Aspirin
○ 2nd drug
■ Clopidogrel
○ 3rd drug
■ Dipyridamole
● Peripheral Arterial disease
○ Aspirin for life
● Percutaneous coronary intervention (MI)
○ Dual antiplatelet agents for a few months after the stent is
placed
● Acute MI / Chest pain
○ 1st line drug?
■ Aspirin
● Kawasaki
○ Aspirin + IVIG
● Preeclampsia in previous pregnancy and prevent in future
pregnancy
○ Aspirin prophylaxis
● Woman with cervical insufficiency. How to prevent insufficiency in future pregnancy?
○ Progestin suppository
● Primary Hemostasis
○ Adhesion step
■ GP1B - VWF binding
● Begin to eject ADP from platelet
○ ADP binds to ADP receptor (P2Y12)
■ GPCR triggers signaling cascade
○ Aggregation step
■ GpIIb/IIIa binds to other GpIIb/IIIa
○ Formation of platelet plug
● What does aspirin do?
○ Irreversible COX-1 and COX-2 inhibitor
■ Can’t make TXA2 (helps with platelet aggregation) so you can’t aggregate
● GpIIb/IIIa inhibitors
○ Abciximab, eptifinabie, terafibine
■ Prevent GpIIb/IIIa from binding to another GpIIb/IIIa can’t form platelet
plug
● ADP receptor antagonists (P2Y12 receptor blockers)
○ clopidogrel ,
■ Block receptor ADP won’t bind to it and can’t activate the receptor.
● PD3 inhibitors
○ Cilostazol, dipyridamole
○ Increase cAMP
■ Increase cAMP in platelet INHIBIT signaling cascade downstream of p2y2
receptor
■ P2Y2 is inhibitory GPCR. less camp = more platelet activation. So if you
inhibit PD3 leads to more cAMP and decreased platelet activation.
○ When cAMP is high it causes smooth muscle?
■ To Relax!
● Vasodilation
○ Cilostazol and NBME?
■ Give after trying a supervised exercise program in patients with Peripheral
Arterial Disease.
○ Dipyridamole
■ Pharmacological stress test
■ Boosts levels of adenosine
● Adenosine deaminase inhibitor
○ Causes vasodilation
● Theophylline antagonizes Adenosine
■ ~12 mins
○ Warfarin
■ Prosthetic Heart Valve indication
● Target INR 2.5 - 3.5
● INR 6 and 7
○ Stop the Warfarin, give oral vitamin K
○ Bleeding Out? Reverse with 4FPCC
○ Reverse Heparin with Protamine Sulfate
■ A. Fib from valvular cause i.e. MS cause
■ Risks
● Don’t give to pregnant woman
● Duodenal hematoma (SBO), rectus sheath hematoma, intracranial
bleed
● Don't’ give tPA with warfarin (they’ll bleed out and die)
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Pathophysiology of ARDS
1st event (Injury in lungs) --> inflammation (due to recruitment of neutrophils, T-cells) -->
inflammatory mediators released (histamine, bradykinin) --> decrease capillary permeability,
increase vascular permeability --> fluid leaks into lungs (alveoli) --> begin to form hyaline
membrane (diffuse alveolar damage) --> increase distance/thickness O2 must travel to perform
gas-exchange (diffusion ability decreases) --> Oxygen tension inside alveoli lower than in
pulmonary capillaries
Pulmonary Values:
DLCO (in ARDS): DECREASED
A-a Gradient (in ARDS): INCREASED
Ptx presents with 3-month history of Shortness of Breath, chronic epistaxis, serpiginous tracts
on buccal mucosa: Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendau Syndrome)
Pathophysiology: Excessive number of AV malformations (AVMs) --> pulmonary AVMs
leads to DECREASED gas exchange --> hypoxemia (intrapulmonary shunts) --> High Output Heart
Failure
High Output Heart Failure: Type of Dilated Heart Failure (due to overwork of heart muscle)
3 types of alveoli:
perfectly normal----middle ground; partially filled with fluid ----destroyed/damaged alveoli
PEEP helps recruit “middle ground” alveoli to work better
3 measures to increase survival in ARDS: Low Tidal Volumes on mechanical ventilators, ECMO
(extra-corporal membrane oxygenation), Placing people in Prone position (laying on belly)
Specific Gravity 1.012 (normal) (less than 1.012 = dilute; greater than 1.012 = concentrated)
RAAS activation due to hypoperfusion of afferent arterioles --> JGA release renin --> activate
RAAS --> ADH secretion & Mineralocorticoids (i.e. aldosterone) from zona glomerulosa
CHF: Effective Arteriole blood flow REDUCED --> hypoperfusion of Kidneys --> activation of RAAS
--> net constriction of vessels in body --> INCREASE SVR
Which CAH associated with LOW levels of aldosterone with NO Type IV RTA: 11-β Hydroxylase
deficiency
Vaginal pH:
Trichomonas pH > 4.5
Candida pH < 4.5
Gardnerella Vaginalis pH > 4.5
Basic urine: Urease + bugs: Proteus Mirabilis (staghorn calculi; swarming motility); Staph
Saprophyticus (#2 cause of UTIs, E. Coli #1), Ureaplasma Uryliticum (high urine pH)
● Tx for alcohol use disorder? Naltrexone (or acamprosate) + 12-step program (Alcoholics
Anonymous)
● Liver finding a/w chronic alcoholism? Alcoholic fatty liver disease aka alcoholic
steatohepatitis
○ Mechanism? Chronic EtOH results in ↑ acetic acid → ↑acetic acid is converted
into ↑ acetyl CoA → acetyl CoA is a substrate for triglyceride synthesis → ↑ TG’s
● Etiology of high-anion gap metabolic acidosis a/w chronic alcoholism? Lactic acidosis
○ Mechanism? See below
● Does chronic alcoholism promote fat synthesis or fat breakdown? ↑ Fat synthesis
○ Mechanism? See below
● Note: What other enzyme reactions are upregulated d/t chronic alcohol metabolism?
○ Acetoacetate → beta-hydroxybutyrate
■ Results in ketoacidosis
○ Dihydroxyacetone phosphate → glycerol-3-phosphate
■ Glycerol-3-phosphate is a substrate for triglyceride synthesis → so, it
further contributes to alcoholic steatohepatitis!
● Rhabdomyolysis
○ Mechanism? Alcohol is toxic to muscle
○ Classic vignette? Person drank alcohol + “found down” by friend next day/many
hours later
■ “Alcoholic passes out for hours → so, body muscles not being used → so
muscle cells die
○ Specific kidney injury a/w rhabdomyolysis? ATN (intrinsic AKI)
■ Released myoglobin → causes acute tubular necrosis.
○ UA findings? 3+ blood but no RBC’s
○ Classic sxs of rhabdomyolysis? Dark red urine + ↑ SCr + hemoglobinuria + no
RBC’s
■ Note: vignette will say “positive hemoglobinuria” b/c urinalysis cannot
distinguish myoglobin vs hemoglobin – this is why “no RBCs on
microscopy” is important to DDx myoglobinuria (i.e. rhabdomyolysis) vs
hemoglobinuria
● Effect of acute alcoholism on CYP P450 enzyme activity? ↓ CYP P450 activity
○ Drugs metabolized by CYP 450 accumulate → can lead to drug toxicity!
● Infertility
○ Alcoholism can cause infertility including erectile dysfunction.
○ Any cells that have ↑ mitochondrial content are destroyed by chronic alcoholism.
○ Men develop smaller testes + ↓ testosterone levels + ↓ libido
● What 2 birth defects are a/w fetal alcohol syndrome? Abnormal philtrum + VSD
● Esophageal Tears
○ Mallory-Weiss Tear → Alcoholic + coughing up blood + HDS
■ NBSIM? Endoscopy
○ Boerhaave syndrome → Alcoholic + coughing up blood + HDUS +
subcutaneous emphysema or sxs of shock or pneumomediastinum or
pneumopericardium →
■ NSBIM? Water-soluble contrast enema (or gastrography) + immediate
surgery!
● Do not use barium!
■ Note: Boorhaave syndrome is also called “esophageal rupture” on the
USMLE!
● Acute Pancreatitis
○ Mechanism? Damage to acinar cells → release of pancreatic enzymes
● Chronic Pancreatitis
○ Mechanism? Pancreas is calcified
○ Endocrine sequelae? Diabetes Mellitus d/t ↓ insulin levels 2/2 pancreatic cell
damage
○ GI sequelae? Fat malabsorption with oily stool.
■ NBSIM? Pancreatic enzyme supplementation
● Do not pick “pancreatic resection”
● Cerebellar atrophy
○ Mechanism? Atrophy of Purkinje fibers + cerebral cortex 2/2 mitochondrial death
● Subdural Hematoma
○ Mechanism? Shearing of bridging veins
■ brain is atrophied aka smaller brain → so, brain dances around in skull →
this increases susceptibility to shearing of bridging veins
● Wernicke-Korsakoff Syndrome
○ Associated vitamin deficiency? Thiamine deficiency aka B1 deficiency
○ Mechanism? Several mechanisms:
■ EtOH destroys enzymes that normally convert thiamine to its co-factor
form → so, biochemical pathways that use the thiamine co-factor stop
running
■ Thiamine normally stored in liver, but chronic alcoholism forces liver to
store fat (which is not its primary job – that is the job of adipose tissue) →
so, the body is depleted of thiamine stores
○ Wernicke encephalopathy = confusion + ophthalmoplegia (e.g. nystagmus) +
ataxia
■ Reversible or irreversible? Reversible
■ Tx? First thiamine then glucose (give together!)
● Note: Administer thiamine first, otherwise glucose metabolism will
deplete any remaining thiamine – this is b/c thiamine is a cofactor
for glucose metabolism enzymes
○ Korsakoff Syndrome = amnesia (retrograde or anterograde) + confabulation
(problem with memory source, person agreeing with false statements)
■ Reversible or irreversible? Irreversible
■ Affected brain structure? Mammillary bodies
● Note: Give thiamine then IV glucose to all hypoglycemic pt’s presenting to ED!
○ b/c you may not know who is or is not an alcoholic!
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Government agency worker + works with sheep or in textile factory + widened mediastinum --> anthrax
Pt with high output CF; MVO2 will be increased (same as in septic shock, also a potential cause of high
output CF)
Oxygen tension of blood returning to right atrium (MVO2) is higher
Refer Episode 273 for more info on this
Intubations
Classic indications for intubations?
GCS < 8
Gurgling sounds on auscultation
Expanding hematoma in neck
Pt with intubation few mins ago + becomes hypoxic, O2 not rising appropriately + worsening abdominal
rigidity and diameter
Think: Esophageal intubation
Confirm with CXR
Next best step: take out and re-intubate
Pt with 3 day old intubation + ventilator alarm triggered + higher than normal pressure + CXR: left white
out lung
Think: right main stem bronchus intubation (left main bronchus is wider, shorter, more vertical)
Biggest risk factor: emergency intubation
CXR LEFT side because atelectasis--> air not flowing to left side; blood is still flowing to left, which
will reabsorb all the gas in left lung, but it is not replenished--> resorption atelectasis
Compression atelectasis?
Pneumothorax
Pleural effusion
If you are having trouble with intubation after multiple attempts + unsuccessful
Next best step: perform cricothyroidotomy (surgical airway)
Intubated for 2-3 weeks + mild resp difficulty several months later + auscultation of chest= stridor
Think: tracheal stenosis
Biggest risk factor: prolonged intubation
Pt has penetrating injury/ stab injury--> what do you do with the penetrating object?
DO NOT pull out
Remove in controlled conditions (e.g., theater)
Nerve that innervates the POSTERIOR compartment of the arm (extension work)? RADIAL
nerve
HY blood vessel that travels with radial Nerve: Deep Brachial Artery (Profunda Brachii)
Breast surgery/mastectomy patient with bulges on upper part of back? Winged scapula
Common complication of breast surgery —> Long thoracic nerve palsy
Arm Abduction
0-15 degrees: Supraspinatus Muscle (Rotator cuff injury —> difficulty initiating abduction;
empty can test/NEER test)
15-90 degrees: Deltoid Muscle (Issue with Axillary nerve prevents abduction to 90)
Boundaries of Quadrangular spac (Transmits Axillary nerve and Posterior Circumflex Humeral
Artery)
Superior Border: Subscapularis & Teres Minor Muscle
Inferior Border: Teres Major Muscle
Medial Border: Long head of Triceps Brachii
Lateral Border: Surgical neck of Humerus
Key high yield spaces Bordered by triceps (Quadrangular space, Triangular space, Triangular
interval)
Key anastamoses:
Scapular Circumflex Artery <—> Suprascapular Artery (Blood supply to Supraspinatus &
infraspinatus muscles)
Subclavian Artery —> Thyrocervical Trunk —> Suprascapular Artery (crosses over the top of
scapula; supply supraspinatus and infraspinatus muscles)
Muscle that does MOST things for the arm? Deltoid Muscle
FEAR (Flexion, Extension, Abduction, Rotation-medial & lateral)
Muscle that laterally rotates the arm innervated by Suprascapular nerve? Infraspinatus Muscle
Deltoids ABduct arm and medially rotate (vs Subscapularis ADduct arm and medially rotate)
Innervated by Axillary nerve
3HY extensors at the shoulder joint? Deltoid, Teres Major, Latismus Dorsii
5 HY medial rotators at shoulder joint? Pectoralis, Teres Major, Latismus Dorsii, Deltoid,
Subscapularis
Patients will also have hyperkalemia because corticosteroids have a mild mineralocorticoid
effect, can bind mineralocorticoid receptors
This is the reason why the body has 3-beta-hydroxysteroid dehydrogenase 2 ( which is inhibited
by glycyrrhetinic acid found in licorice )
Normal pathway:
3BHSD2 converts cortisol to cortisone.
Cortisol is active on MR whereas cortisone is not active on MR.
Body takes advantage of that pathway to deal with the cortisol problem because you don't want
to have a mineralocorticoid like state when your cortisol is high
Patient takes a ton of licorice: develops a Conn syndrome like presentation: high BP,
hypokalemia, metabolic alkalosis.
In this state, high levels of cortisol are built up, and not converted to cortisone because of
inhibition of 3BHSD2, thus exerting mineralocorticoid like effect by acting on the
mineralocorticoid receptors
When there is cortisol excess, glucose tends to be high because cortisol is a diabetogenic
hormone
In the same way when cortisol is low, glucose tends to be low.
On NBME exams, hypocortisolism is almost always associated with low glucose levels.
If you see the patient has symptoms of hypercortisolism ( buffalo hump, obese, hyperglycemia )
Investigations
● Document person has hypercortisolism ( 3 ways )
○ Increased 24 hour urinary cortisol
○ Late night salivary cortisol
■ Late at night you’re supposed to be relaxed, not to worry about stuff, so
cortisol is supposed to be low at nigh. If your cortisol is high at night, that
makes you a potential candidate for hypercortisolism
○ Low dose dexamethasone suppression test
■ Normal: after giving low dose dexamethasone at night, the next morning
their cortisol is supposed to be low
■ If you notice that the next morning their cortisol is elevated ( failed to
suppress ), this indicates hypercortisolism
● Measure levels of ACTH ( some cases have high ACTH, some have low ACTH ) . This is
going to help you to find out the cause of ACTH
○ If ACTH levels are low, this means something is suppressing the pituitary gland
to not release ACTH, so the probable cause is person is taking exogenous
corticosteroids or from an adrenal adenoma making ton of cortisol
■ Next step in this circumstance: Abdominal imaging ( Abdominal
CT/MRI, Adrenal CT/MRI )
○ If ACTH levels are high, indicates pituitary adenoma ( Cushing’s disease ) or the
person has another location in the body ( like the lungs: small cell lung cancer )
which is producing lots of ACTH
■ Differentiate these 2 conditions from high dose dexamethasone test
■ Normal tissue will suppress the cortisol release in response to high dose
dexamethasone ( will suppress the anterior pituitary gland adenoma aka
Cushing’s disease )
● Next step: MRI of brain ( NOT CT SCAN )
■ If the cortisol is not suppressed, it indicates ectopic ACTH production
● Lung imagining : Chest Xray, Chest CT scan to find the small cell
lung cancer.
● Treatment of hypercortisolism
○ Steroid synthesis inhibiting agents like ketoconazole
○ Treat the underlying cause if treatable
Causes of hypocortisolism
Primary adrenal insufficiency ( Addison’s disease ) : m/c in the US also known as autoimmune
adrenalitis
Most commonly antibodies are produced against 21 hydroxylase ( necessary for production of
cortisol and aldosterone )
○ Tx is by steroids and fludrocortisone to replace corticosteroids and aldosterone
○ Patients will addison’s disease will also have past medical history of some other
autoimmune disease ( rule of thumb: 90% of NBME questions about an
autoimmune disease will have PMHx of some other autoimmune disease:
Hashimoto’s, vitiligo, pernicious anemia
○ Addison’s disease is commonly associated with Hashimoto’s/Grave’s disease
Type 1 DM ( called the DTA triad: this is an autoimmune polyglandular syndrome
type-2. Associated with AIRE-LG mutations.
○ AIRE is a transcription factor which helps in presentation of endocrine gland
antigens in the thymus, so the immune system develops tolerance
○ When this is absent, there is autoimmune activity against endocrine glands
● Tuberculosis ( most common cause worldwide )
● Neisseria meningitidis ( water house friderichsen syndrome )
● 21 hydroxylase deficiency
○ Most common cause of congenital adrenal hyperplasia
○ Can present in newborn with symptoms of cortisol deficiency
○ Can present in teenager ( antibodies develop later in life ), produces similar
phenotype like CAH
○ Px: hyponatremia, hyperkalemia, normal anion gap metabolic acidosis, skin
hyperpigmentation ( loss of feedback from cortisol on the pituitary gland leading
to excess ACTH production, stimulating melanocytes)
● Hypothalamic tumor
● Prolonged use of exogenous corticosteroids causing atrophy of the CRH producing cells
in hypothalamus and corticotrophs in the anterior pituitary gland
Patients with autoimmune etiology of adrenal insufficiency ( which is also associated with a low
aldosterone state ) also causes type 4 RTA ( hyperkalemic RTA ) : normal anion gap metabolic
acidosis
Hypocortisolism also causes orthostatic hypotension because as discussed earlier cortisol plays
a role in maintaining the peripheral vascular tone
Also causes eosinophilia, because steroids cause eosinophil apoptosis, so in state of low
corticosteroids, eosinophils have an incrreasd half life
4. VaLgus test
a. Lie supine
b. Flex knee 20 degrees (creating small triangle under knee)
c. Apply LATERAL force to test MCL
i. If a lot of displacement --> rupture or torn MCL
d.
5.
6. ACL
a. Suddenly slow down while running & smashes lateral aspect of knee
b. Ant Drawer sign- tibia moves anteriorly a lot compared to unaffected knee
i. If both ant drawer sign & lachman given as ans choices= pick LACHMAN
(more sensitive)
d. 2 HY things about ACL tears
i. Usually a/w fracture of lateral tibial plateau
ii. If pt has meniscal tears --> need to assess for ACL tear
7. PCL
a. If tibial dislocation posteriorly
b. Post Drawer sign – tibia moves posteriorly a lot relative to femur
8. Meniscal tears
a. “clicking/catching/locking of knees” + joint line tenderness (medial or lateral)
b. McMurray test for LATERAL meniscus
1. Positive if click/pop/catch at joint line
ii. Lie supine (on back)
iii. Put knees in 90 degree flexion
iv. Use 1 hand to support ant knee- thumb on medial joint line; index on
lateral joint line
v. Other hand on pt heel/foot
1. Apply VARUS (medial) force for Lateral meniscus (VIRUS)
a. VIRUS for lateral = vaRus force (medial) IR= internal
rotation
2. Apply VALGUS (lateral) force for Medial meniscus
c. Apley compression test
i. Place prone & flex knee 90 degrees
ii. One hand- stabilize hit
iii. Other hand-grasp feet & compress foot downward then internally &
externally rotate legs
iv. Positive=a lot of pain
v.
vi.
10. Playing sports & heard popping sound, now cant straighten (extend) knee. Pain,swelling,
palpable defect along superior patella
a. Quadriceps rupture
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Patient misses a dialysis session, what’s causing the hyperkalemia? Renal failure.
Immobile patient with hyperkalemia - muscles are MADE TO MOVE, so when you’re immoblie,
your muscles will start to break down and release K into the blood.
Alcoholic - passed out for many hours, muscles breakdown, K leaks into blood.
Ecstasy can cause hyperkalemia - patients dancing and partying and using their muscles for
6-7h can lead to muscle fatigue.
NSAIDs - inhibit COX1, COX2, COX2 causes us to release prostacyclin which can make the
kidneys secrete K+ ions into the urine.
Taking NSAIDs and inhibiting COX2 (celecoxib) -> cannot secrete K+ ions into the urine.
HIV pneumocystis patient taking TMP-SMX --> Block ENaC channel of the collecting duct,
cannot displace the K --> accumulates.
Patient taking beta blockers - β-2 receptors increase the Na/K ATPase pump.
Blocking b2 receptors -> low activity of the Na/K ATPase --> K cannot enter the cell -->
build up outside the cell.
Patient took succinylcholine - depolarizing Neuromuscular Blocking Agent --> Na+ rushes into
cell --> K+ displaced.
This is why burn patients shouldn’t be intubated with succinylcholine.
Burn patients have a lot of K released already because their muscles have
broken down, succinylcholine causes more K to be released so we cannot give
them.
Organ transplant - Calcineurin inhibitors (cyclosporine, tacrolimus) also inhibit the Na+/K+
pump.
Patients treated for a hematological malignancy - killing many cells in one swoop. Also knocking
out the kidneys by all the uric acid, cannot effectively remove the K+.
Patient has altered mental status after they exercise and develop hyperkalemia with paralysis -
HYPERKALEMIC PERIODIC PARALYSIS.
AD, chromosome 17.
Na+ channels are very very slow to close, displacing K+ ions.
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Smokers
· Screen for AAA (Abdominal aortic aneurysm)
o Between ages 65-75
o Only men!!!
o If you have smoked as a male or have a family history of AAA
o With an ultrasound
o If more than 5.5 cm you need intervention (endovascular repair of some sort)
· Screen for Osteoporosis
o Screen in woman
o Normally you start screening with DEXA scan at age 65 for general population.
o But in smokers you can start screening for osteoporosis at younger age
o You can also screen for osteoporosis at less than 65 if:
§ Very thin like with Anorexia Nervosa
§ Premature ovarian failure
· Lung Cancer
o You need to be between ages 50-80
o Have a 20 or more pack-year history
o Currently smoking or have quit less than 15 years ago.
o Screen with a low dose CT scan and you only do it 3 times every year
§ If you screen 3 times year after year and it is negative you can stop
Lynch Syndrome
· Its not a matter of if but when will you get a medullary thyroid cancer
· You offer a prophylactic thyroidectomy !!!
APC gene mutation-> Polyps -> Kras mutation-> p53 mutation-> Adenocarcinoma
BRCA Mutations
Screening guidelines
Metabolic Diseases
Hypertension
Diabetes
Osteoporosis
· Screening at age 65
· We only screen Women
· DEXA scan looking at t score
o -2.5 or less
o Needs treatment
Hyperlipidemia
For metabolic disease the screening guidelines gets more frequent the older you become.
· Men
o Ages 20-45: Every 5 years
o Ages 45-65: Every 1 to 2 years
o Over age 65: Every single year
· Women
o Risk increases more after menopause
o Ages 20-55 every 5 years
o Ages 55-65: Every 1-2 years
o Older than 65: Every years
· Diabetics
o You screen every year, the end!
o If LDL is 70mg/dl or higher they will be placed on a high intensity statin like
rosuvostatin or atorvastatin.
Cancer Screening
Colon Cancer
Breast Cancer
The problem is NBME uses ACS so know both of them, the question stem will probably give you enough
information to know both of them
USPSTF guidelines
Cervical Cancer
· Screen ages 21-29 with pap smear every three years
· If you are 30 to 65 years old
o Preferred modality: Pap smear + HPV contesting every 5 years
o Pap smears every three years
o HPV testing every 5 years
· Special Cervical Screening guidelines
o HIV or immunodeficiencies:
§ They get pap smears every year!!!
§ Especially T cell deficiencies like DiGeorge
· Hysterectomy and pap smears:
o If it was done do to benign conditions like leiomyomas: You do NOT NEED TO DUE A
PAP!
o If it was done due to malignant reason (cervical or endometrial cancer): Pap smear of
the vaginal cuff.
o If hysterectomy was done due to cervical cancer you will continue doing pap smears
until 20 years after the surgery
· Stop screening at 65:
o No history of cervical cancer
o No history or severe Pap smear HSIL OR CIN 3
§ If they did then you need to have 3 negatives in a row
§ Or 2 pap smears plus HPV contesting in a row
Children
Patients with Language difficulties:
Miscellaneous
Women Less than 24 years old: Screen annually for gonorrhea and chlamydia ONLY IN women
Who needs to be screened for Hep B?
· Easy questionnaire:
o PHQ-9
o Beck depression inventory
-------------------------------------------------------------------------------------------------------------------------------
Risk Factors for PE: VIRCHOW’S TRIAD (Stasis, Hypercoagulability, Endothelial dysfunction)
Bed-bound (Stasis), Pregnancy (stasis, hypercoagulability), Long plane/train ride without
moving (stasis),
Factor V Leiden (hypercoagulable state), Antithrombin III deficiency (genetic/acquired cause i.e.
nephrotic syndrome),
Puncture Blood vessel (endothelial dysfunction)
Pleural effusion associated with PE: EXUDATIVE effusion (violate 1 or more of Light’s criteria)
Inflammatory cascade --> inflammatory markers --> increase vascular permeability
Patient with suspected PE and CT angiogram, V/Q scan, D-dimer NOT answer choices…
Pick Duplex ultrasound of Lower Extremities
Gold Standard test for diagnosing PE: Pulmonary Angiogram (NOT CT angiogram)
Patient is 75 year old with knee pain, cannot golf in the morning. Has had the problem for a few
months. Dx: OSTEOARTHRITIS
Most Common Joint disease in the elderly
Old patients, on their skin, have ecchymoses and purpura. The patient has decreased skin
turgor. Dx: Loss of skin elasticity
Fibers that contribute to elasticity in skin BREAK DOWN --> blood vessels in skin become
unstable --> rupture easily (petechiae, purpura) --> decreased skin turgor
Wrinkles common in the elderly
Woman in her 60s, comes into the clinic stating that sex with her husband has become more
painful. DX: LOW ESTROGEN STATE
Ovaries become functionally nonexistent (do not work well) --> granulosa cells not
present --> little estrogen present --> no maintenance of vulva and vagina --> no natural
lubrication for intercourse
Tx: Estrogen creams, Estrogen lubricants
Male who has lower abdominal pain a few times a month, complains of urinary dribbling.
Patient’s creatinine is slightly elevated. Most likely mechanism behind these problems?
Hyperplasia of the Prostate Gland (BPH)
Prostate gets really big --> squishies the prostatic urethra --> difficult for bladder to drain
--> urinary stasis --> predisposes to infection --> Causes urinary retention --> obstructive
uropathy --> can cause chronic renal failure
BPH management:
Acute (symptomatic) --> catheterization immediately, alpha-1 blocker (terazosin,
prazosin, tamsulosin; open bladder sphincter)
Chronic --> 5-alpha reductase inhibitor (Finasteride, Dutasteride); TURP (transurethral
resection of the prostate)
Do NOT give alpha-1 blocker with OTHER powerful vasodilators (i.e. nitrates for CHF; sildenafil
for ED; Hydralazine for HTN; Amlodipine): may cause ORTHOSTATIC HYPOTENSION
Patient who is placed on alpha-1 blocker what psych meds should you be careful with? (2 meds)
TCAs (anti-HAM symptoms; anti-H1 (sedation), anti-alpha 1 (orthostatic hypotension),
antimuscarinic (anticholinergic toxidrome))
Low-Potency 1st Gen antipsychotics (i.e. chlorpromazine): anti-HAM symptoms
MOA of 5-alpha reductase inhibitors: 5-alpha reductase normally converts testosterone to DHT;
DHT is responsible for growth of prostate
Block 5-alpha reductase --> decrease amount of DHT --> decrease size of prostate by
50% in a few months
Older person is having trouble reading signs at night, and cannot read at night. Dx: CATARACTS
Cataracts: opacification of the lens
Tx: Lens replacement
Surgery with NO real pre op testing (low-risk surgery)
Older gentleman who is having trouble hearing needs to turn the TV louder during his golf and
basketball matches. Dx: Presbycusis
Presbycusis: Hearing loss; very common in elderly individuals
Pathophys: Hair cells in inner ear not working as well --> Hearing slowly degenerates
In the elderly, the activity of taste buds reduces --> food doesn’t have as much taste as it used
to
As a person gets older, they begin to have higher risk of ALL skin cancers
Skin becomes thinner as we age --> UV rays can penetrate much better --> many skin
cancers can occur
Actinic Keratosis (common in the elderly who spend a lot of time outside)
Usually goes away by itself, most patients get better over time
SOME patients progress to Squamous Cell Cancer of the skin
SCC of skin: On histology, keratin pearls present
African American with melanoma on the skin, will be found in “weird places” (i.e. under the
nails)
Acral Lentiginous Melanoma
In the elderly, the immune system does not generate cell-mediated immunity well
More susceptible to severe infections
# of CD+ T-cells decreases over time --> cannot deal with viruses and cancers well
As a woman gets older, due to the relative DECREASE in estrogen --> BREAST ATROPHY
The longer time a person has lived, the more time they have had to develop genetic mutations
More malignancies
For individual to have multiple cancers, they most likely have a genetic inherited condition
Lynch Syndrome, Li-Fraumeni Syndrome, BRCA-1 mutation, etc..
69 year old female, the patient complains of lower back pain. Labs reveal normal calcium,
normal ALP, no anemia. Dx: Osteoporotic Fracture
Osteoporosis very common among the elderly, especially in females
Most common site of fracture Is in the vertebra
Uses of Acetaminophen:
Child with febrile seizures (with seizures that last less than 15 min), previous history of viral
infection
History of Osteoarthritis (1st line medication; start with exercise and diet prior to meds)
Pain control (if you cannot use a NSAID)
Patient recently started on an anti-hypertensive medication, the patient presents 2-3 weeks
later with significantly elevated creatinine (1 to 3), BUN has increased significantly. Dx?
ACE-Inhibitor Toxicity
ACE-inhibitors are powerful dilators of efferent arterioles (arterial portal system; fed by
afferent, drained by efferent)
Kidney system: Afferent arteriole --> glomerular capillary --> efferent arteriole
MOA: Dilate efferent arteriole --> decrease hydrostatic pressures in glomerular
capillaries --> favor filtration/decreased reabsorption --> Increase creatinine/GFr slightly
Side Effect: Dry cough (due to bradykinin NOT being broken down) (mitigate with ARB)
Bradykinin stimulates coughing, edema
Uses: Hypertension, Hypertension with kidney issue (ESRD), Hypertension with Diabetic
Nephropathy (prevent hyperfiltration injury)
Contraindicated in PREGNANCY
In patients with bilateral renal artery stenosis (kidneys NOT perfused well)
If given an ACE-Inhibitor/ARB --> excess reabsorption --> increase creatinine and BUN
Family who has had a bad reaction to ACE-inhibitors: Dry cough, significant mucosal edema,
abdominal pain. Dx? Hereditary Angioedema
Pathophys: C1-esterase inhibitor deficiency --> excess buildup of bradykinin (only
problematic IF they take an ACE-inhibitor)
Autosomal Dominant inheritance pattern
African Americans and have essential hypertension, no kidney issues. DOC?
Only give ACE-Inhibitor/ARB IF they have a kidney problem
Pregnant woman with a history of hypertension does NOT receive regular care during
pregnancy. Woman comes in for a prenatal checkup and has oligohydramnios. Cause?
ACE-inhibitor teratogenicity
ACE-inhibitor and ARB are teratogens (cause renal damage in fetus --> no urine
production --> source of amniotic fluid has dried up --> oligohydramnios (no urination
leads to no swallowing leads to no urination)
35 year old female who is hearing voices, and is started on haloperidol. Patient presents with
cogwheeling rigidity, loss of speech, rigidity. Dx? Drug-Induced Parkinsonism
Haloperidol causing drug-induced parkinsonism
Tx: Muscarinic antagonist/Cholinergic receptor blockers (Benztropine,
Trihexyphenidyl), Dopamine Agonist (Bromocriptine, Cabergoline)
Drugs listed above can also be used for parkinsonism (early on)
Benztropine, Trihexyphenidyl; Bromocriptine, Cabergoline
TTE vs TEE?
TTE ONLY if TEE is NOT an option (TEE always a better answer than TTE)
Patient comes in with a fever and a productive cough. On chest x ray there is a pneumonia
present. (Any sort of “white” = aka radiodense)
MCC of Pneumonia: S. Pneumonia
One side well circumscribed, an infiltrate --> LOBAR PNEUMONIA
White “stuff” going on all over the lungs --> INTERSTITIAL PNEUMONIA
Typical Pneumonia: Toxic, High Fevers, very sick, Productive Cough, Lobar consolidation (“white”
that is well circumscribed)
Atypical Pneumonia: Indolent course, little to no symptoms, diffuse process on CXR
Person who has been on prolonged steroid therapy (bad asthma)/immunocompromised (HIV)
and has fever, cough and is hypoxic. On Chest X-ray there is a diffuse process. Dx? Pneumocystis
Jirovecii Pneumonia
If patient has a CD4 count < 200, prophylaxis for PJP is given (TMP-SMX)
Very hypoxic patient (PaO2 <70) --> give a corticosteroid with the TMP-SMX
HIV patients can also get a lobar pneumonia (Most likely S. Pneumoniae)
Young patient with very mild symptoms of pneumoniae, on Chest X-ray there is an interstitial
process present. Dx? Mycoplasma Pneumoniae
Alcoholic Patient with Gram (-) organisms in their sputum with pneumonia. Dx? Klebsiella
Pneumonia
Patient who has pneumonia and is in constant contact with birds/parrots. Dx? Chlamydia
Psittaci Pneumonia
Patient who is from the southwestern part of the USA (i.e. New Mexico) and has a pneumonia.
Dx? Coccidiomycosis
Patient is a farmer who works with farm animals and presents with pneumonia. Dx? Q fever
(Coxiella Burnetii)
Child who is under the age of two and presents with pneumonia. Dx? RSV (Respiratory
Syncytial Virus) Pneumonia
Patient recently was at a business conference and had a humidifier in his room, presents with
pneumonia. Dx? Legionella
Patient is from Kentucky/Ohio and presents with pneumonia. Dx? Histoplasmosis (Histoplasma
Capsulatum)
Older patient who has been a smoker for a long time, comes in to the doctor with hemoptysis
and has lost weight. On Chest x-ray a density (pulmonary nodule) in the lungs is present. Dx?
Lung Cancer
Patient who is a smoker and has JVD. On Chest X-ray a nodule/mass is visible. Dx? Superior
Vena Cava Syndrome
Female patient who has shortness of breath, cough, hypercalcemia with a restrictive lung
disease pattern. On chest x-ray there is a diffuse process, on the sides of the heart (lymph
nodes) are enlarged. Dx? Sarcoidosis
Noncaseating granulomas in the lungs (macrophages make excess vitamin D (due to
1-alpha hydroxylase expression) which leads to hypercalcemia)
Tx: Corticosteroids
Patient has a history of COPD OR a tall, thin young male patient in their 20s/30s. On Chest X-ray,
there is a straight line (lung edge visible separate from the chest wall; one side of line very white
and one side very dark) Dx? Simple Pneumothorax
Pathophys: Patient has popped an apical “bleb” --> lung is being squished
Treatment: Chest tube (Tube thoracostomy)
Symptoms: Absent breath sounds, hyperresonance to percussion
Smoking patient has a very large lung field on Chest X-ray. There is a lot of black where the lung
fields should be, lungs are very “long”. Dx? Emphysema
Young smoking patient (smoked for 10 years) and is 40 years old with elevated LFTs. On Chest
X-ray, hyperinflation of the lungs is present. Dx? Panacinar Emphysema (due to alpha-1
antitrypsin deficiency)
Patient is a young child (under 10) with the “steeple sign” or “wine bottle sign”. Dx?
Croup/Laryngotracheobronchitis
Barking, seal like cough; caused by the parainfluenza virus
Person who is an alcoholic/neuromuscular disorder (i.e. ALS, Parkinson’s disease). On chest
x-ray there is an area of darkness with a straight line the horizontal plane (aka an air-fluid level).
Dx? Lung Abscess
Patient with very blunt costophrenic angles bilaterally on CXR. Dx? CHF exacerbation
Person has been a smoker or has been working at a shipyard for a long period of time and on
Chest X-ray there is a large unilateral pleural effusion. Dx? Malignancy
Person who has had a very severe illness (acute pancreatitis, emergency surgery, almost
drowned). On chest x-ray the whole lung is white. Dx? ARDS (Acute Respiratory Distress
Syndrome)
Patient will be profoundly hypoxic
Patient who, on CXR, has cephalization (vessels engorging with blood and pointing upward). Dx?
Pulmonary Edema (Decompensated CHF, CHF exacerbation)
-------------------------------------------------------------------------------------------------------------------------------
Episode 424 HY Rules For Remembering Inheritance Patterns
Autosomal Dominant Disorders
Huntington’s disease
Sickle Cell Disease, Cystic Fibrosis, Alkaptonuria, Galactosemia, PKU, glycogen storage
diseases, Bartter’s syndrome, Oculocutaneous albinism, Wilson’s Disease
Enzyme-defects
Immunodeficiency Diseases
Hemophilia A/B
Muscular Dystrophies
BIPOLAR I DISORDER: Must have symptoms of mania for GREATER THAN (>) 1 week\
OR if you require hospitalization for manic symptoms
Symptoms: DIG FAST (Distractibility, Insomnia, Grandiosity, Flight of Ideas, Activities,
Speech pressured/more talkative, Thoughtlessness risk-taking behavior)
Schizo-symptoms
Brief Psychotic Disorder: Auditory Hallucinations, hearing voices for less than 1 month
Schizophreniform Disorder: Same symptoms as above for 1-6 months (less than 6
months, greater than 1 month)
Schizophrenia: Same symptoms as above for greater than 6 months
Panic Disorder: Recurrent panic attacks with worrying about having another panic attack for
OVER 1 month
-------------------------------------------------------------------------------------------------------------------------------
Episode 455 HY Autosomal Dominant Disorders
40 year old male presents to his PCP with dementia, weird arm movements and lower
extremities. The patient says inappropriate things during the history. Dx? Huntington’s Disease
Chromosome 4 Issue; Huntingtin Gene
Trinucleotide Repeat CAG
Chorea commonly (choreiform movements)
Atrophy of Caudate nucleus
ANTICIPATION: future generations will have more severe disease + earlier in life
Number of trinucleotide repeats INCREASES (mechanism behind anticipation)
Pathophysiology: Hypermethylation of Histone Proteins
Person from Europe comes into the clinic with Jaundice. The patient has an increased
hematocrit with an indirect hyperbilirubinemia. A Coombs test is performed and is negative. Dx?
Hereditary Spherocytosis
Hemolysis NOT due to autoantibodies
Defect in spectrin/ankyrin/band proteins —> insufficient membrane —> super
concentrated hemoglobin
Diagnosis: Osmotic Fragility Test OR Eosin-5’-Maleimide test
Treatment: SPLENECTOMY (splenic macrophages destroys RBCs)
Patient comes in with recurrent nose and gum bleeding. On physical exam, the tongue is
covered in red spots. The patient has elevated cardiac output with elevated EPO. Dx?
Hereditary Hemorrhagic Telangiectasias (Osler-Weber-Rendu Syndrome)
Mucosal Telangiectasias, Epistaxis, AV-malformations, GI bleeds
Elevations in EPO?
Lots of AVMs –> improper gas exchange –> hypoxic tissue –> increases Cardiac
Output (eventual High Output Heart Failure) + increases EPO production
Athlete that dies during a basketball game. Dx? HOCM (Hypertrophic Obstructive
CardioMyopathy)
Mutation in beta-myosin heavy chain –> Sudden Cardiac Death
Young person that collapses during a sports activity
Murmur heard best at the LLSB (Left Lower Sternal Border)
Murmur gets softer when you put more blood in the LV –> pushes the hypertrophic
muscular interventricular septum –> relieves tension in Left Outflow tract
Tx: beta blockers
MOA: Slow down heart –> increases filling of Left Ventricle –> allows for Left ventricular
outflow tract to be opened
Person that has short limbs compared to their body, abnormal ossification of bones.
Achondroplasia
FGFR-3 (Fibroblast Growth Factor Receptor-3)
Chromosome 4 Issue
2 year old child that is having frequent seizures throughout the day. The child has
hypopigmented skin lesions. Recently the child had a cardiac mass removed. Dx? Tuberous
Sclerosis
Issues with TSC-1 and TSC-2
TSC-1: codes for hamartin
TSC-2: codes for tuberin
Chromosome 16 defects
Hypopigmented skin lesions (ash-leaf spots)
Seizure disorder: Infantile spasms (West Syndrome)
Hypsarrhythmia on EEG
Treatment: ACTH (possibly steroids)
Cardiac masses: Cardiac Rhabdomyomas
Kidney masses: Renal angiomyolipomas
SEGA (subependymal Giant cell Astrocytomas): Developmental delay
“Tubers” in the brain
Adenoma Sebaceum (facial angiofibromas)
Shagreen Patches
Shagreen Patches Ash-Leaf Spots
20 year old that gets an MI. Their parent died of a MI at age 32. Dx? Familial
Hypercholesterolemia
Issues with LDL receptor –> cannot clear LDL from circulation –> elevated LDL levels –>
increased risk of MI
Treatment: Statins, PSK-9 inhibitors
Many variations
Familial hyperchylomicronemia
Person that has tons of polyps in the colon. Dx? FAP (Familial Adenomatous Polyposis)
APC gene mutation
Lots of polyps in colon early in life
Turcot syndrome: FAP with brain tumors
Gardner syndrome: FAP with soft tissue tumors
Person has lots of hyperpigmented macules on the LIPS with polyps in the colon. Person may
have a history of pancreatic cancer, hamartomas in the GI tract. Dx? Peutz-Jaghr Syndrome
6 foot 5 guy comes in with severe chest pain. The patient describes the pain as tearing and
feels it in his back. BP is extremely elevated. The patient’s father passed away due to a stroke.
Dx? Marfan’s Syndrome
Chromosome 15 gene disorder
Fibrillin Gene defect
Fibrillin key for extracellular matrix
Dislocated lenses dislocated upwards AND outwards
Mitral valve prolapse
Myxomatous degeneration of the mitral valve
Aortic Dissection (dissect through intima into the media)
Cystic medial necrosis/degeneration
Extremely tall
Pneumothorax (chest pain with no widened mediastinum on Chest X-ray)
Pop apical blebs –> pneumothorax
Restrictive Lung Disease
Pectus excavatum –> lungs do not have enough room to expand –> restrictive
lung disease
Normal DLCO (normal parenchyma), decreased TLC (total lung capacity),
A-a Gradient NORMAL (no issue with the lung)
Why did the father die of a stroke?
Aneurysms in the circle of willis –> aneurysm bursts –> intracerebral hemorrhage
Person has a lot of arrhythmias in their family. The patient has frontal balding, and a family
history of cataracts. The testicles are atrophied. Dx? Myotonic Dystrophy
Trinucleotide Repeat Disorder: CTG repeats
DMPK (myotonic dystrophy protein kinase) gene issue
Decreased muscle tone; difficult to release grip (during a handshake)
Frontal balding
Cataracts
Lots of arrhythmias (muscle of heart affected)
Person that has a triad of abdominal pain, neuropsych symptoms, and discolored urine. Dx?
Acute Intermittent Porphyria (AIP)
Issue with porphobilinogen deaminase (deficiency) –> buildup of porphobilinogen in the
blood
Heme synthesis pathway disorder
Port wine urine
Treatment: ALAS inhibitor (heme, hematin, glucose)
Person presents with posterior mediastinal mases, hyperpigmented macules on the skin, and on
CT scan of the brain there are tumors growing near the cerebral convexities. Dx?
Neurofibromatosis Type I (von Recklinghausen’s disease)
Chromosome 17 disorder
Scoliosis
Posterior mediastinal masses: neurofibromas
Hyperpigmented macules on the skin: Cafe-Au-Lait spots
Lisch Nodules in the eye (Hamartomas of the iris)
CN II gliomas (optic gliomas)
Gliomas derived of diencephalic origin
Pheochromocytomas possible (high BP, episodic headache)
Meningioma: mass that grows around cerebral convexities (falx cerebri)
Psammoma bodies (lamellated calcifications) on histology
Patient presents with hypertension and hematuria. Both kidneys can be palpated on physical
exam. A murmur is heard at the apex of the heart. Dx? Autosomal Dominant Polycystic
Kidney Disease (ADPKD)
Mutation in PKD-1 gene (Polycystin 1, Transient Receptor Potential Channel Interacting)
Chromosome 16 mutation (more common)
Mutation in PCKD-2 gene (Polycystin 2, Transient Receptor Potential Cation Channel)
Chromosome 4 mutation (15% of cases)
Cysts in the Liver, Pancreas, Kidneys
Can produce EPO –> polycythemia vera
Some cysts can turn cancerous –> renal cell carcinoma
Mitral Valve Prolapse
Aneurysms in the circle of willis
Diverticula of the colon
Person that has extremely dense bones on imaging and is coming to the ED frequently with
bone fractures. Dx? Osteopetrosis (aka Brittle Bone Disease)
Osteoclasts dysfunction due to a mutation in Carbonic Anhydrase Type II
Osteoclast function
Resorption of bone is due to pumping excess acid (H+) into the bone –> leech the bone
–> destroy it
Carbonic anhydrase type II necessary to convert CO2 and water into Carbonic Acid and
Hydrogen
Bones very dense/thick
Patient who has had uterine rupture, and in the past has had pelvic organ prolapse. In the past
the patient has had a history of aortic dissection. Dx? Ehlers-Danlos Syndrome
Type III and Type V collagen defect
Rupture of uterus
DO NOT WANT PATIENTS TO GO INTO NATURAL LABOR (scheduled C-sections)
Child has a renal mass. The child also has polycythemia. Previously the child had a cerebral
tumor resected a few years ago. Dx? Von-Hippel-Lindau Syndrome (VHL)
Chromosome 3 problem
VHL: Ubiquitin ligase
If mutated –> cannot ubiquitinated things that should be destroyed (i.e.
HIF-1A; Hypoxia Induced Factor 1 alpha)
Cerebellar hemangioblastomas
Calcified masses in the cerebellum; can secrete EPO –> polycythemia vera
Renal Cell Carcinoma (bilaterally)
Pancreatic Tumors
Pheochromocytomas
Person who bleeds a lot. The PTT is up, bleeding time is elevated, and abnormal ristocetin
cofactor assay. Dx? Von-Willebrand Disease
Deficiency of von-Willebrand Factor (vWF)
Primary platelet problem –> bleeding time increased
vWF binds with GP1b –> primary hemostasis –> abnormal ristocetin cofactor assay
vWF extends efficacy of Factor VIII → PTT elevation (due to ineffective Factor VIII)
Treatment: Desmopressin/ADH-analog (increases release of vWF from the Weibel-Palade
bodies)
Patient who gets lots of cancers (leukemias, adrenal cancers, breast, brain). The patient has a
family history of many cancers. Dx? Li-Fraumeni Syndrome
P53 mutation
Grab-bag of Autosomal Dominant disorders
Lynch Syndrome (Hereditary Nonpolyposis colorectal cancer (HNPCC)
BRCA mutations
Gilbert’s Disease
Antithrombin III Deficiency
Idiopathic Hypoparathyroidism
Protein C Deficiency
Treacher Collins Syndrome
-------------------------------------------------------------------------------------------------------------------------------
Amoxicillin Ampicillin
Good for UTI treatment (UTIs: cystitis, NOT Prophylaxis before dental procedures
pyelonephritis)
Prophylaxis after dog/cat bite (to prevent
Part of Triple therapy for Helicobacter Pylori: osteomyelitis)
CAP (Clarithromycin + Amoxicillin + Proton
Pump Inhibitor) Group B strep prophylaxis in pregnant
woman weeks 35-37
Adverse effect of Amoxicillin: In a mono
patient —> full body rash Good for UTI treatment (UTIs: cystitis, NOT
pyelonephritis)
Prophylaxis with Amoxicillin/Ampicillin before dental procedures IMPORTANT for patients with
heart defect or previous history of endocarditis or mechanical valve in the heart
KEY indication
SINGLE dose
Cephalosporins
1st generation: Cefazolin, Cephalexin
Cefazolin: Antibiotic of choice PRIOR to surgery (30-60 min prior)
Cephalexin: Useful in skin infections (cellulitis, erysipelas), UTIs (SAFE IN
PREGNANCY)
2nd generation: Cefuroxime
Cefuroxime: Good for treatment of Lyme disease (NOT 1st line; Doxycycline 1st line)
3rd generation: Ceftriaxone, Cefdinir, Cefotaxime, Cefixime, Ceftazidime, Ceftizoxime
Ceftriaxone: DOC for pyelonephritis, DOC for N. Gonorrhea infection, N. Meningitidis,
MOST GI infections (MCC of GI infections: E. Coli), Spontaneous Bacterial Peritonitis (SBP;
ascites, mild fever, mild abdominal pain, altered mental status), Close contact prophylaxis for
people exposed to N. Meningitidis (spreads by respiratory droplets), Pneumonia (S. Pneumo, H.
Influenza)
CHELATES calcium —> biliary stasis (biliary issues)
Cefotaxime: ANYTHING you can use for ceftriaxone; Preferred in small children over
ceftriaxone; sepsis in a neonate; SBP
Ceftazidime: Covers PSEUDOMONAS AERUGINOSA
4th generation: Cefepime
Covers Pseudomonas
Adverse Effect: Abdominal pain, Diarrhea
5th generation: Ceftaroline
Covers MRSA (Methicillin-Resistant Staph Aureus)
Macrolides can be used for chlamydia (however less effective and not first line; more treatment
failures)
Chloramphenicol
Adverse Effect: Gray-Baby Syndrome
Rarely used on exams
Clindamycin
MOA: Protein Synthesis inhibitor
Uses:
Anaerobic infections
Necrotizing Fasciitis (due to the toxin in the bacteria causing the illness)
Endometritis (ECG: Endometritis treated with Clindamycin + Gentamycin)
MRSA coverage
Side Effects: C. Difficile Colitis (due to destroyed GI tract),
Linezolid
MOA: Binds 50S ribosomal subunit –> prevents formation of 60S ribosomal complex
(50S/30S complex)
Uses
MRSA and VRSA
Adverse Effect: MAOI effects (can trigger serotonin syndrome IF taken with another
serotonergic drug)
Fluoroquinolones: 3 generations
1st generation: Norfloxacin, Nalidixic Acid, Cinoxacin
2nd generation: Ciprofloxacin, Ofloxacin, Lomefloxacin
3rd generation: Levofloxacin, Gatifloxacin, Moxifloxacin
4th generation: Trovafloxacin
Attempt to avoid using them (if possible)
Adverse effects: QT prolongation, Tendon rupture
MOA: Inhibit DNA gyrase
Cover Gram negatives well (i.e. E. Coli)
Uses:
Cover Pseudomonas (good coverage)
Many respiratory infections (levofloxacin/moxifloxacin)
SBP prophylaxis (in patients with variceal bleeds, previous SBP)
SBP: Ascites, abdominal pain, fever, slight/subtle altered mental status
Metronidazole
MOA: Binds DNA to block nucleic acid synthesis
Covers Anaerobes very well
2nd/3rd line for agent for C. Difficile (Vancomycin 1st line)
Uses
Part of Quadruple therapy of H. Pylori: PPI, Tetracycline, Metronidazole, Bismuth
OBGYN infections
bacterial vaginosis (vaginal pH greater than 4.5, “clue cells” on cytology,
“fishy smell)
Trichomoniasis (motile protozoa on cytology; vaginal pH greater than 4.5)
“GET GAHP on the metro”
Gardnirella Vaginalis
Entomeaba Histolytica (blood diarrhea, liver abscess)
Trichomoniasis
Giardial Lamblia (Long-term traveler’s diarrhea; common in IgA
deficiency/Bruton’s Agammaglobulinemia/CVID)
Anaerobes (Clostridium, Bacteroides, actinomyces)
H. Pylori
Adverse Effect: Disulfiram-Reaction (can inhibit acetaldehyde dehydrogenase)
DO NOT DRINK ALCOHOL WITH METRONIDAZOLE
Sulfonamides: Trimethoprim-Sulfamethoxazole
Uses:
Pneumocistis Jirovecii (treatment AND prophylaxis IF CD4 < 200)
MRSA skin infections
Toxoplasmosis (T. Gondia infection) Prophylaxis IF CD4 < 100
Toxoplasmosis infection treatment: Pyrimethamine-Sulfadiazine
Many UTIs (Cystitis, Pyelonephritis)
Cover Gram (-) bacteria well
MOA: Trimethoprim and sulfamethoxazole inhibit bacterial synthesis of tetrahydrofolic
acid (Trimethoprim (TMP) prevents reduction of dihydrofolate to tetrahydrofolate.
Sulfamethoxazole (SMX) inhibits conversion of p-aminobenzoic acid to dihydropteroate)
Adverse Effect: Hyperkalemia; Drug-Induced Lupus
Contraindicated in People with G6PD deficiency (trigger a hemolytic crisis)
Digoxin Adverse Effect: Optic Neuropathy (halos around objects; green vision)
Hydroxychloroquine: Retinopathy
Requires yearly eye exams
Voriconazole: Antifungal
Treats MOST fungal infections
Effective against invasive aspergillosis
Amphotericin B: Antifungal
Treat Mucormycosis
2nd line treatment for invasive candidal infections
2nd line treatment of invasive aspergillosis
Treatment of HIV patient associated Cryptococcal meningitis
Given WIth 5-Flucytosine; Flucanozole after 12 months (to prevent recurrence)
Liposomal Amphotericin B
Used to treat cutaneous Leishmaniasis
Itraconazole: Antifungal
Used to treat dermatophyte infections (tinea cruris/tinea pedis)
Used to treat endemic fungal respiratory infections
Histoplasmosis, Blastomycosis, Coccidiomycosis
Topical Permethrin
Used to treat SCABIES
CYP450 inducers
Griseofulvin
Barbiturates
Rifampin
St John’s Wort
Phenytoin
Valproic Acid
-------------------------------------------------------------------------------------------------------------------------------