Part 1 Rapid Review

Front 1

Abdominal pain, ascites, hepatomegaly (nutmeg liver & absent JVD)

Back 1

Budd-Chiari syndrome (posthepatic venous thrombosis)

Front 2

Jugular Venous Pressure

Back 2

A measure of central venous pressure (superior vena cava). Not elevated in Budd Chiari

Front 3

Achilles tendon xanthoma

Back 3

Familial hypercholesterolemia (Auto Dom + 2a) (decrease LDL receptor signaling)

Front 4

Adrenal hemorrhage, hypotension, DIC

Back 4

Acute Waterhouse-Friderichsen syndrome (meningococcemia)

Front 5

Arachnodactyly, lens dislocation, aortic insufficiency/dissection, hyperflexible joints

Back 5

Marfan's syndrome (fibrillin defect)

Front 6

Athlete with polycythemia

Back 6

2° to erythropoietin injection

Front 7

Back pain, fever, night sweats, weight loss

Back 7

Pott's disease (vertebral tuberculosis)

Front 8

Bilateral hilar adenopathy, uveitis, Elevated Vitamin D

Back 8

Sarcoidosis (noncaseating granulomas)

Front 9

Blue sclera

Back 9

Osteogenesis imperfecta (type I collagen defect). Choroidal veins show through. (Aut Dom)

Front 10

Bluish line on gingiva

Back 10

Burton's line (lead poisoning) (M: LLEEAADD)

Front 11

Lead Lines, Encephalopathy & Erythrocyte basophilic stippling, Abdominal colic, sideroblastic Anemia, wrist/foot Drop, Dimercaperal and eDta are 1st line treatments

Back 11

Lead poisoning (mnemonic LLEEAADD)

Front 12

Bone pain, bone enlargement, arthritis

Back 12

Paget's disease of bone (Increase osteoblastic and osteoclastic activity) woven bone pattern

Front 13

Bounding pulses, diastolic heart murmur (Left sternal border), head bobbing

Back 13

Aortic regurgitation

Front 14

Butterfly facial rash and Raynaud 's phenomenon in a young female

Back 14

Systemic lupus erythematosus

Front 15

Cafe-au-lait spots, Lisch nodules (iris hamartoma)

Back 15

Neurofibromatosis type I (+ pheochromocytoma , optic gliomas) (RAS GTPase activating protein)

Front 16

Cafe-au-la it spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities, multiple unilateral bone lesions

Back 16

McCune-Albright syndrome (mosaic G -protein signaling mutation)

Front 17

Bone replaced by fibroblasts, collagen, and irregular bony trabeculae.

Back 17

Polyostotic fibrous dysplasia

Front 18

Calf pseudohypertrophy

Back 18

Muscular dystrophy (most commonly Duchenne's) : X-linked recessive deletion of dystrophin gene (anchors sarcolemma to actin)

Front 19

Adolescent onset fibrofatty muscle replacement

Back 19

Becker's = X linked mutation in dystrophin gene. More mild than Duchenne's

Front 20

Cherry-red spot on macula + Progressive Neurodegeneration

Back 20

Tay- Sachs (GM2 ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion

Front 21

Mutated enzymes Tay-Sachs and Niemann Pick

Back 21

Tay-saX lacks heXosaminidase A. No man picks his nose with his Sphinger (sphingomyelinase)

Front 22

Chest pain on exertion

Back 22

Angina (stable : with moderate exertion; unstable : with minimal exertion)

Front 23

Chest pain, pericardial effusion/friction rub, persistent fever following MI (>1wk later)

Back 23

Dressler's syndrome (autoimmune-mediated post- MI fibrinous pericarditis, 1-12 weeks after acute episode)

Front 24

Child uses arms to stand up from squat

Back 24

Gowers' sign (Duchenne muscular dystrophy)

Front 25

Child with fever later develops red rash on face that spreads to body

Back 25

Slapped cheeks (erythema infectiosum/fifth disease: parvovirus B19)

Front 26

Chorea, dementia, caudate degeneration (pathophys?)

Back 26

Huntington's disease (autosomal-dominant CAG repeat expansion). Neuronal death via NMDA-R binding and glutamate toxicity

Front 27

Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria

Back 27

McArdle's disease (muscle glycogen phosphorylase deficiency)

Front 28

Lysosomal alpha 1,4 glucosidase deficency

Back 28

Type 2 - Pompe's disease (Pump trasher - heart)

Front 29

Cold intolerance

Back 29

Hypothyroidism

Front 30

Conjugate lateral gaze palsy, horizontal diplopia

Back 30

Internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])

Front 31

Eye muscles and innvervations

Back 31

LR6 SO4 R3

Front 32

Nerve damage resulting Down and Out

Back 32

CN3 (ptosis, mydriasis, loss accomodation)

Front 33

Medially directed eye w/ loss abduction, diplopia

Back 33

CN6

Front 34

Continuous "machinery" heart murmur

Back 34

PDA (close with indomethacin ; open or maintain with misoprostol). Heard over L 2nd interspace.

Front 35

MOA of Indomethacin & Misoprostol

Back 35

ENDomethacin (ENDs patentcy) via blocking PGE2. Misoprostol - is a PGE1 mimetic

Front 36

Cutaneous/dermal edema due to connective tissue deposition

Back 36

Myxedema (periorbital/facial) (caused by hypothyroidism, Graves' disease [pretibial])

Front 37

CLINICAL PRESENTATION

Back 37

DIAGNOSIS/DISEASE

Front 38

Dark purple skin/mouth nodules

Back 38

Kaposi's sarcoma (usually AIDS patients [MSM]: associated with HHV- 8 ). Malignant proliferation superficial vasculature.

Front 39

IFN-alpha treatment and MOA

Back 39

HBV, HCV, Kaposi sarcoma, leukemia, Melanoma. MOA - inhibit viral synthesis

Front 40

Deep, labored breathing/hyperventilation

Back 40

Kussmaul breathing (diabetic ketoacidosis). Attempts to blowoff CO2/acid (respiratory alkalosis)

Front 41

Dermatitis, dementia, diarrhea (DEATH)

Back 41

Pellagra (niacin [vitamin B3] deficiency). Hartnup disease

Front 42

PVT TIM HALL

Back 42

Essential Amino Acids: Phe, Val, Trp - Thr, Ile, Met - His, (a), Leu, Lys

Front 43

Tryptophan excretion in urine, less GI absorption, eventually pellagra

Back 43

Hartnup disease - Autosomal recessive defective renal/GI neutral amino acid transporter.

Front 44

Dilated cardiomyopathy, edema, alcoholism or malnutrition

Back 44

(High output failure) Wet Ber1Ber1 (thiamine [Vit B1 deficiency). (Dry is neuro/muscle based)

Front 45

Dog or cat bite resulting in infection

Back 45

Pasteurella multocida (cellulitis at inoculation site) May lead to osteomyelitis.

Front 46

Dry eyes, dry mouth, arthritis

Back 46

Sjogren's syndrome (autoimmune destruction of exocrine glands). Parotid enlargement w/ lymphocytic infiltrate. Anti-RibOnucleoprotein (Anti RO/la)

Front 47

Dysphagia (esophageal webs) , glossitis, microcytic anemia

Back 47

Iron deficiency leading to Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)

Front 48

Glossitis, macrocytic anemia

Back 48

Folate, VitB12, Orotic Aciduria deficiency (see orotic aciduria)

Front 49

Elastic skin , hypermobility of joints

Back 49

Ehlers-Danlos syndrome (type thrEE D collagen defect)

Front 50

Mnemonic for collagen types/properties

Back 50

BSTCRB or Strong, Slippery, Bloody, BM. Reticulin (blood vessels, uterus, fetal tissue, granulation tissue)

Front 51

Enlarged, hard left supraclavicular node

Back 51

Virchow's node (abdominal metastasis). Thoracid duct drains Left/lower lymph nodes.

Front 52

2 major divisions lymphatic flow

Back 52

RUQ of body (head, chest, arm) via R lymphatic duct & Remainder of body (RLQ/LLQ/LUQ) via Thoracic duct

Front 53

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

Back 53

Sezary syndrome (cutaneous CD4+ T-cell lymphoma) or mycosis fungiodes. Indolent course

Front 54

Facial muscle spasm upon tapping

Back 54

Chvostek's sign (hypocalcemia). Seen in Hypoparathyroidism

Front 55

Fat, female, forty, and fertile

Back 55

Cholelithiasis (gallstones). MC cholesterol MC are radiolucent. Calcification may lead to radioopaque.

Front 56

Fever, chills, headache, myalgia following antibiotic treatment for syphillis

Back 56

Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release) (Penicillin = Bactericidal = Beta lactam = block cell wall synthesis)

Front 57

Fever, cough , conjunctivitis, coryza, diffuse rash, Coplik Spots, Very contagious.

Back 57

Measles (Morbillivirus under the paramyxoviruses).

Front 58

Fever, night sweats, weight loss

Back 58

B symptoms (staging in hodgkin's) of lymphoma. Suggests systemic disease. Less helpful in non-hodgkins

Front 59

Fibrous plaques in soft tissue of penis

Back 59

Peyronie's disease (connective tissue disorder of tunica albuginea)

Front 60

Tunica Albuginea

Back 60

Surrounds Corpous caverosa (excludes spongiosum), surrounds testicles, covers ovaries

Front 61

Gout, mental retardation, self-mutilating behavior in a boy

Back 61

Lesch-Nyhan syndrome ( HGPRT deficiency, X-linked recessive)

Front 62

He Got Purine Recovery Problems

Back 62

HGPRT for Purine slavage pathway - deficeincy results in excess uric aciduria + Need for De Novo purine synthesis

Front 63

Green-yellow rings around peripheral cornea

Back 63

Kayser-Fleischer rings (copper - Wilson's disease) (Copper is Hella BAD)

Front 64

Copper is Hella BAD

Back 64

Ceruloplasmin low, Cirrhosis, Corneal deposits, hcCarcinoma, Hemolytic anemia, Basal ganglia degeneration, Asterixes, Dementia, Dyskinesia, Dysarthria

Front 65

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

Back 65

Peutz-Jeghers syndrome (Auto Dom, benign polyposis can cause bowel obstruction ; Increase CRC risk, mainly GI)

Front 66

Hepatosplenomegaly, osteoporosis, neurologic symptoms

Back 66

Gaucher's disease (lysosomal glucocerebrosidase deficiency). MC sphingolipidoses. Like majority of these dzs Auto Recessive.

Front 67

Hereditary nephritis, sensorineural hearing loss, cataracts

Back 67

Alport syndrome (mutation in a chain of collagen IV) "Can't pee, can't see, can't hear me"

Front 68

Hyperphagia, hypersexuality, hyperorality, hyperdoctily

Back 68

Kluver-Bucy syndrome (bilateral amygdala lesion). May occur post HSV1 encephalitis

Front 69

Hyperreflexia, hypertonia, Babinski sign present

Back 69

UMN damage (Everything UP - tone/DTR/toes)

Front 70

Hyporeflexia, hypotonia, atrophy, fasciculations

Back 70

LMN damage (Everything lowered - muscle mass/muscle tone/reflexes/toes)

Front 71

Toes go down

Back 71

Babinski reflex is absent (normal)

Front 72

Hypoxemia, polycythemia, hypercapnia

Back 72

Blue bloater (type of COPD = chronic bronchitis: hyperplasia of mucous cells = thick bronchial wall)

Front 73

Indurated, ulcerated genital lesion

Back 73

Nonpainful: chancre ( 1y syphilis , Treponema pallidum) Painful , with exudate : chancroid (Haemophilus ducreyi)

Front 74

Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia

Back 74

Patau's syndrome (trisomy 13 ) "Puberty at age 13" & "PED in numerical order"

Front 75

Congenital absence of skin

Back 75

Cutis Aplasia - absence of epidermis

Front 76

CLINICAL PRESENTATION

Back 76

DIAGNOSIS/DISEASE

Front 77

Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration

Back 77

Niemann-Pick disease (genetic sphingomyelinase deficiency). Hepatosplenomegaly differentiates it from Tay-Sachs.

Front 78

Infant with hypoglycemia, failure to thrive, and hepatomegaly

Back 78

Cori's disease (debranching (1,6glucosidase) enzyme def). Gluconeogenesis remains intact (G6Pase present) and ability to use Cori cycle

Front 79

Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect

Back 79

Edwards' syndrome (trisomy 18) "Election age 18" "PED in numerical order"

Front 80

Jaundice, palpable distended non-tender gallbladder

Back 80

Courvoisier's sign (distal obstruction of biliary tree). Commonly from pancreatic adenocarcinoma.

Front 81

Large rash with bull's-eye appearance

Back 81

Erythema chronicum migrans from Ixodes tick bite Lyme disease: Borrelia (Stage 1- Rash) (Stage 2-Neuro/heart) & (Stage 3-Msk/Vessel/Skin)

Front 82

Lucid interval after traumatic brain injury

Back 82

Epidural hematoma (middle meningeal artery rupture).Temporal bone fracture. Period before transtentorial herniation occurs from hematoma.

Front 83

Describe a lucid interval and etiology

Back 83

Knocked unconsiouss. Regain it. Then lose conciouness again (hematoma causing transtentorial herniation). Occurs from high pressure epidural (imaging shows lentiform shape)

Front 84

Male child, recurrent infections after 6mo, no mature B cells

Back 84

Bruton's disease (X-Iinked agammaglobulinemia). BTK tyrosinase defect that does not allow B cell maturation

Front 85

What is the B based immunodeficiency and what are the B's?

Back 85

Bruttons agammagloBulinemia. a B-cell maturation disorder. mc in Boys. Btk tyrosinase defect that slows maturation.

Front 86

Mucosal bleeding and prolonged bleeding time

Back 86

Glanzmann's thrombasthenia (defect in platelet aggregation due to lack of Gpllb/IIIa) Mimics ticlodipine/clopidogrel.

Front 87

Gp2b/3a drugs and diseases

Back 87

Abciximab inhibits expressed Gp2b/3a receptors. Ticlopidine & clopidogrel bind ADP receptor to block expression of these receptors. Receptor is deficient in Glanzmann thrombasthenia

Front 88

Muffled heart sounds, distended neck veins, hypotension

Back 88

Beck's triad of cardiac tamponade

Front 89

Decrease in systolic BP by 10mmHg during inspiration

Back 89

Pulsus paradoxus - Seen in cardiac tamponade, asthma, OSA, pericarditis, croup

Front 90

Multiple colon polyps, osteomas/soft tissue tumors, impacted/ supernumerary teeth

Back 90

Gardner's syndrome (subtype of FAP that has osseous + soft tissue tumors) "a garden of symptoms similar to teratomas"

Front 91

Multiple colon polyps, malignant CNS tumor

Back 91

Turcot syndrome (subtype of FAP that has malignant CNS tumors) "TURban that goes on your head"

Front 92

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

Back 92

Pompe's disease (lysosomal a-1,4-glucosidase deficiency). Cardiomegaly may lead to early death.

Front 93

Neonate with arm paralysis following difficult birth

Back 93

Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: "waiter's tip")

Front 94

Unopposed finger extensors at MCP (radial n.) & finger flexors at PIP/DIP (median n.)

Back 94

Klumpke's claw - Lower trunk (C8-T1) injury. Loss function lumbricals (ulnar and part median nerve).

Front 95

No lactation postpartum, absent menstruation, cold intolerance

Back 95

Sheehan's syndrome (pituitary ischemic infarct from INCREASED blood demand during pregnancy & its watershed location making it susceptible to ischemia w/ the blood loss of pregnancy)

Front 96

Nystagmus, Intention tremor, Scanning speech, bilateral Internuclear ophthalmoplegia

Back 96

Multiple sclerosis - Charcot's Triad NOT the cholelithiasis triad!

Front 97

What is Charcot's traid for and name the symptoms (5 total)

Back 97

Myasthenia Gravis "SIIIN - Scanning speech, Intention tremor, Incontinence, Internuclear opthalamplegia, Nystagmus"

Front 98

What disease is the other Charcot triad in the GI realm for & its findings?

Back 98

Cholangitis - Jaundice, Fever, RUQ pain. Could confrim w/ a Murphy's sign.

Front 99

What else does Charcot refer to?

Back 99

.+++ Charcot-Bouchard microaneurysm from chronic HTN +++ Charcot-Marie Tooth - Heriditary motor and sensory neuropathy due to defective proteins in peripheral myelin/nerves. +++ Charcot joint - seen in 3y syphillis. +++ Charcot Leyden crystals of eosinophil breakdown seen in asthma

Front 100

Oscillating slow/fast breathing

Back 100

Cheyne-Stokes respirations (central apnea in CHF or increased intracranial pressure).

Front 101

Oscillating pO2 and pCO2 levels

Back 101

Poor feedback from chemoreceptors to respiratory drive center resulting in cyclical pO2 and pCO2 levels.

Front 102

Painful blue fingers/toes, hemolytic anemia

Back 102

Cold agglutinin disease (hence peripheral findings) (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis). Frequently (+) on direct coombs test.

Front 103

Painful, pale, cold fingers/toes

Back 103

Raynaud's phenomenon (vasospasm in extremities) (Often seen in Mixed CT disease, SLE, CREST or Raynaud's disease if idiopathic)

Front 104

Buerger's Disease

Back 104

Medium vessel vasculitis seen in heavy smokers >40yo. Raynaud's is often present and may lead to severe autoamputation of the digits. Tx is smoking cessation.

Front 105

Painful, raised red lesions on pad of fingers/toes

Back 105

Osler's node (infective endocarditis, immune complex deposition Type 3 HPY) "frOm jane"

Front 106

Painless erythematous lesions on palms and soles

Back 106

JANEway lesions (infective endocarditis, septic emboli/ micro abscesses) "from Jane"

Front 107

Painless jaundice

Back 107

Cancer of the pancreatic head obstructing bile duct (Courvoisier's sign)

Front 108

Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria

Back 108

Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys) often follows URI and has self-limiting disease course.

Front 109

what diseases cause palpable purpura?

Back 109

Palpable suggests small vessel vasculitis. Where the palpable componet is from extravasation of RBC/WBC/PMNs.

Front 110

Pancreatic, pituitary, parathyroid tumors

Back 110

MEN l (autosomal dominant) - 3P's and diamond shape

Front 111

Zollinger Ellison syndrome

Back 111

A specific type of tumor of pancreas/duodenum that secretes gastrin. Stomach rugae thicken 2y to the increased gastrin levels. Recurrent ulcers are 2y to acid hypersecretion.

Front 112

Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia

Back 112

Nephrotic syndrome (>3.5g/day prothrogenic state since AT3 is lost)

Front 113

What are the causes of Nephrotic syndrome?

Back 113

FSGS, Membranous Nephropathy, MCD, Amyloidosis, MembranoProliferativeGN, Diabetic glomerulonephropathy

Front 114

Pink complexion, dyspnea, hyperventilation

Back 114

Pink Puffer" (COPD subtype - emPhysema: centriacinar [smoking], panacinar [alpha1 antitrypsin deficiency))

Front 115

Pathophys emphysema type COPD

Back 115

Overactive elastase which leads to increase in lung compliance and no recoil due to destruction of alveolar walls.