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Waterhouse-Frieerichsen syndrome
(Neisseria meningitidis)
4. Arachnodactyly
(spider fingers),
lens dislocation,
aortic dissection or
aneurysm,
Osteogenesis Imperfecta (Type I
hyperflexible
collagen defect forming triple helix)
joints, pectus
Blue due to exposure of choroidal veins
excavatum
Dressler syndrome
AR McArdle disease
(skeletal muscle glycogen
phosphorylase deficiency)
-defect in anaerobic glycogen
metabolism
24. Cold intolerance, Hypothyroidism Myxedema
weight gain,
bradycardia, facial Dx: Thyroxine (T4) (caused by hypothyroidism, Graves
myxedema, disease [pretibial])
hypercholesterolemia 28. Cutaneous
25. Conjugate horizontal flushing, diarrhea,
gaze palsy, horizontal bronchospasm
diplopia
Internuclear opthalmoplegia
Plummer-Vinson syndrome
Kaposi Sarcoma, associated with HHV-8
(may progress to esophageal squamous
Endothelial cell tumor, not of blood
cell carcinoma)
vessels (will not blanche)
Spindle cells 35. Elastic skin,
Sjogren syndrome
(autoimmune destruction of exocrine
glands)
Can have RF, Anti-SSA or SSB
Lymphocytic sialadenitis
Risk of B-cell lymphoma
Meniere disease:
excess of endolymph fluid in the inner
ear
38. Erythroderma, 41. Fibrous plaques in
lymphadenopathy, soft tissue of
hepatosplenomegaly, penis with
atypical T-cells abnormal
curvature
Jarisch-Herxheimer reaction
(rapid lysis of spirochetes results in
endotoxin release)
40. Fever, cough,
conjunctivitis, coryza, Kayser-Fleischer rings (copper
diffuse rash accumulation from Wilson disease,
check ceruloplasmin)
(coryza = rhinitis = Risk of basal Ganglia atrophy
irritation and 43. Gout, intellectual
inflammation of the disability, self-
mucous membr in the mutilating
nose) behavior in a boy
Measles (rubeola)
Koplik spots (white lesions on buccal
mucosa)
Risk of subacute sclerosing
panencephalitis (viral inclusions in white
and gray matter) Lesch-Nyhan syndrome (HGPRT
Fusion protein and HA (Hemagglutinin deficiency, X-linked recessive)
for binding) virulence factors Build up of hypoxanthine and guanine
Urate crystals on UA
44. Hamartomatous GI polyps, 47. Hyperphagia,
hyperpigmentation of hyper-sexuality,
mouth/feet/hands/genitalia hyperorality,
hyperdocility
Peutz-Jeghers syndrome
(inherited, benign polyposis can cause
bowel obstruction, increased cancer Kluver-Bucy Syndrome
risk-mainly GI)
45. Hepatosplenomgaly, (bilateral amygdala lesion)
pancytopenia, 48. Hyporeflexia,
osteoporosis, aseptic hypotonia,
necrosis of femur, bone atrophy,
crises in child fasciculations
LMN Damage
49. Hypoxemia,
Gaucher disease macrophage
polycythemia,
(glucocerebrosidase deficiency)
hypercapnia
Niemann-Pick disease
(genetic sphingomyelinase deficiency)
Foam cells
52. Infant with cleft
lip/palate,
microcephaly or Edwards Syndrome (trisomy 18)
holoprosencephaly (1 Mnemonic: E=election age at 18
hemisphere), 55. Jaundice, palpable Courvoisier sign
polydactyly, cutis distended non- (distal obstruction of biliary tree)
aplasia tender gallbladder
56. Male child, Bruton tyrosine kinase disease
recurrent bacterial (X-linked agammaglobulinemia)
and Lack of immunoglobulin, Tx: IVIG
enterovirus/giardia
(lack of IgA)
infections after 6
Patau syndrome (Trisomy 13) months of life, no
mature B cells
Mnemonic: P=puberty at 13
57. Mucosal bleeding
53. Infant with and prolonged
hypoglycemia, bleeding time
hepatomegaly
(glycogen in liver),
AR
Glanzmann thrombasthenia
Cori disease III (debranching enzyme
(defect in platelet aggregation due to
deficiency)
lack of GpIIb/IIIa)
Von Gierke disease IV (glucose-6-
phosphate deficiency in ER, more severe 58. Muffled heart
with increased blood lactate) sounds, distended
neck veins,
hypotension
Gardner syndrome
(subtype of FAP)
60. Myopathy (infantile
hypertrophic
cardiomyopathy),
exercise intolerance
Type IV hypersensitivity
Dx: Oligoclonal IgG bands and
periventricular plaques on MRI
64. Painful blue
fingers/toes,
hemolytic anemia
AR Pompe disease II (lysosomal alpha-
1,4-glucosidase deficiency)
Gout/podagra (hyperuricemia -
monosodium urate)
Precipitated by alcohol or meat
(compete with uric acid for excretion in
kidney)
Condylomata lata (secondary syphilis)
100. Swollen gums,
96. Splinter mucosal
hemorrhages in bleeding, poor
fingernails wound healing,
petechiae,
corkscrew hair
Subarachnoid hemmorhage
Tetralogy of Fallot
1) stenosis of RV outflow
2) VSD
3) Overriding aorta
4) RV hypertrophy Chagas disease (Trypanosoma cruzi)
Squatting increases preload, and more 133. Cellular
blood goes to lung crescents (fibrin
129. Branching gram- and
positive rods with macrophages) in
sulfur granules Bowman capsule
(anaerobic)
Pericaridal tamponade
145. Enlarged cells
with intracellular
inclusion bodies
Megaloblastic anemia:
B12 deficiency: subacute combined
degeneration of spinal cord (dorsal
Cowdry type A bodies (HSV or VZV)
column and lateral corticospinal tracts),
high MMA 169. Iron-containing
Folate deficiency: no neurologic nodules in
symptoms, glossitis) alveolar septum
Glioblastoma multiforme
Adults, GFAP, malignant
Minimal change disease (child with
194. RBC casts in urine
nephrotic syndrome)
Associated with hodgkin's (RS produce
cytokines)
Tx: steroids
190. Polished, "ivory-
like" appearance
of bone at
cartilage erosion
Glomerulonephritis
Eburnation (osteoarthritis resulting in
bony sclerosis)
Spares MCP
195. Rectangular, 200. Ring-enhancing
crystal-like, brain lesion in
cytoplasmic AIDS
inclusions in
Leydig cells
Acute pyelonephritis
Chronic pyelonephritis (usually due to 218. WBCs that look
recurrent infections) "smudged"
214. "Tram-track"
appearance of
capillary loops of
glomerular
basement
membranes on
light microscopy
PAS stain
CLL (almost always naive B cell)
Warm or cold agglutinin
CD5+ and CD20+
Membranoproliferative
219. "Wire loop"
glomerulonephritis
glomerular
Type 1: Subendothelial immune complex
capillary
deposits with granular IF, Hep B and
appearance on
Hep C
light microscopy
Type 2: deposits in BM, C3 nephritic
factor (c3 convertase always on)
215. Triglyceride
accumulation in
liver cell Diffuse proliferative glomerulonephritis
vacuoles (usually seen with lupus)
Granular IF and subendothelial C3 and
IgG Immune complex deposistion on
EM
220. Yellowish CSF
Fatty liver disease (alcoholic or
metabolic syndrome)
216. "Waxy" casts with
very low urine
flow
Cyclophosphamide, corticosteroids
Large necrotizing granulomas Macrolides (e.g., azithromycin)
265. Viral encephalitis HSV-1 280. Mycobacterium RIPE (rifampin, isoniazid, pyrazinamide,
affecting temporal tuberculosis tx ethambutol)
lobe 281. Neisseria Ceftriaxone (add doxycycline to cover
266. Vitamin Deficiency Folate (pregnant women at high risk, gonorrhoeae likely concurrent C. trachomatis)
(U.S.) body stores only 3-4 month supply, tx
prevents neural tube defects) 282. Neisseria Penicillin/ceftriaxone, rifampin
High homocysteine, normal MMA meningitidis tx (prophylaxis)
267. Hypercholesterolemia Statin (first-line) 283. Neural tube Prenatal folic acid
tx defect
268. Hypertriglyceridemia Fibrate prevention tx
tx
284. Osteomalacia/rickets 297. SIADH tx Fluid restriction, IV hypertonic saline
(poor osteoid SLOWLY to prevent central pontine
mineralization) tx myelinolysis, conivaptan/tolvaptan,
demeclocycline
Stop cyclophosphamide
298. Sickle cell
disease tx
Vitamin D supplementation
Hydroxyurea (Increase fetal hemoglobin)
285. Osteoporosis
(Trabecular spongy 299. Sporothrix Itraconazole, oral potassium iodide
bone loss) tx schenckii tx
300. Stable angina Sublingual Nitroglycerin
tx
301. Staphylococcus MSSA: nfacillin, oxacillin, dicloxacillin
aureus tx (antistaphylococcal penicillins); MRSA:
vancomycin, daptomycin, linezolid,
Calcium/vitamin D supplementation ceftaroline
(prophylaxis); bisphosphonates, PTH
302. Streptococcus Penicillin prophylaxis; evaluation for colon
analogs, SERMs, calcitonin, denosumab bovis tx cancer if linked to endocarditis
(treatment)
303. Streptococcus Penicillin/cephalosporin (systemic
286. Patent ductus arteriosus Close with indomethacin; open or pneumoniae tx infection, pneumonia); vancomycin
tx maintain with PGE analogs (meningitis)
287. Pheochromocytoma tx Alpha-antagonists first (e.g., 304. Stretococcus Penicillin prophylaxis
phenoxybenzamine), then beta blockers pyogenes tx
Prior to excision
305. Temporal (giant High-dose steroids
288. Pneumocystis jirovecii tx TMP-SMX (prophylaxis in AIDS patient) cell) arteritis tx
289. Prolactinoma tx Cabergoline/bromocriptine (dopamine
306. Tonic-clonic Levetiracetam, phenytoin, valproate,
agonists) seizures tx carbamazepine
290. Prostate Leuprolide, GnRH analog (continuous)307. Toxoplasma Sulfadiazine + pyrimethamine
adenocarcinoma/uterine gondii tx
fibroids tx
308. Treponema Penicillin
291. Prostate Flutamide (competitive inhibitor of pallidum tx
adenocarcinoma tx androgen)
309. Trichomonas Metronidazole (patient and partner)
292. Pseudomonas Piperacillin/Tazobactam or vaginalis tx
aeruginosa tx Ticarcillin/Clav.,
310. Trigeminal Carbamazepine
Aminoglycosides, carbapenems
neuralgia (tic
293. Pulmonary arterial Sildenafil, bosentan, epoprostenol douloureux) tx
hypertension
311. Ulcerative 5-ASA preparations (e.g., mesalamine), 6-
(idiopathic) tx
Colitis tx mercaptopurine, infliximab, colectomy
294. Rickettsia Rickettsii tx Doxycycline, Chloramphenicol (curative)
295. Schizophrenia (negative Atypical antipsychotics 312. UTI prophylaxis TMP-SMX (Bactrim)
symptoms) tx tx
296. Schizophrenia (positive Typical and atypical antipsychotics 313. Warfarin Fresh frozen plasma (acute), vitamin K
symptoms) tx reversal tx (chronic)
314. Actinic (solar) 320. Aortic aneurysm,
keratosis thoracic
315. Acute gastric Cushing ulcer (Increased intracranial 321. Aortic dissection
ulcer associated pressure stimulates vagal gastric H+
with CNS injury secretion)
316. Acute gastric Curling ulcer (greatly reduced plasma
ulcer associated volume results in sloughing of gastric
with severe burns mucosa)
317. Alternating areas Skip lesions (Crohn Disease)
Cause: HTN and atherosclerosis of vaso
of transmural
vasorum Presents with tearing chest
inflammation
pain to back
(leading to rare
Type A: ascending and urgent
enterocuteaneous
B: descending and B-blockers
fistulas) and
Complications: pericaridal tamponade
normal colon,
or renal failure
with non-
caseating 322. Atrophy of the Wernicke encephalopathy (thiamine
granulomas mammillary deficiency causing ataxia,
bodies ophthalmoplegia, and confusion)
318. Aortic aneurysm,
abdominal 323. Autosplenectomy Sickle cell disease (hemoglobin S)
(fibrosis and Gluatamic Acid to VALINE
shrinkage)
324. Bacteria
associated with
gastritis, peptic
ulcer disease,
and stomach
cancer
Atherosclerosis > fibrosis weakens wall >
turbulent flow > emboli
Location: Below renal arteries and
H. pylori
above bifurcation
325. Bacterial
319. Aortic aneurysm,
meningitis (adults
ascending or arch
and elderly)
VSD
Size of defect determines severity
Left to Right shunt reverses later in life
due to pulmonary hypertension
343. Congenital
Metastasis, myxoma (90% Left atrium; conjugated
"ball and valve") hyperbilirubinemia
Blocks mitral valve > syncope (black liver)
337. Cerebellar
tonsillar
herniation
Berger disease (IgA nephropathy) 363. Helminth Enterobius vermicularis (pinworm), Ascaris
Mesangial proliferation with IgA immune infection (in lumbricoides (treeman)
complex deposits USA)
Gross hematuria or RBC casts after
mucosal infections
364. Hematoma - 368. Autosomal
epidural dominant, most
common bleeding
disorder
Alcoholic cirrhosis 383. Metastasis to Lung > breast > GU > melanoma > GI
brain
384. Metastasis to Colon >> stomach, pancreas
liver
385. Mixed UMN and ALS
LMN motor
neuron disease
386. Myocarditis 390. Obstruction of
male urinary
tract
466. Alveolar gas PAo2 = PIo2 - (Paco2 / R) 478. CF vs Primary PCD: immotile sperm, situs inversus, and
equation Ciliary bronchiectasis (dilated bronchioles)
Dyskinesia CF: absence of vas deferens, pancreatic
467. Hep B High ALT and AST, symptoms include fever, (Kartagener) insufficiency, mucus build up in lungs
Presentation itchy rash, and joint pain
479. Ovarian/Uterine Ovarian: suspensory/infundibulopelvic
468. Hep B vs. Hep B: finely granular, homogenous, pale pink arteries ligament
C histology cytoplasm; C: lymphoid aggregates Uterine: Cardinal ligament/transverse
469. Hartnup Failed absorption of tryptophan in cervical
disease intestine/kidneys, that causes pellagra from
niacin deficiency
Tx: high protein diet, nicotinic diet
470. SIBO Often caused by Gastric bypass,
deficiency in all vitamins EXCEPT Vit K and
Folate!
480. Ovarian/Testicular LEFT side goes to renal vein (more likely 484. Adherens junction
VEINS!! (not for varicocele)
arteries) RIGHT side goes to from IVC
481. Polyhydramnios
vs.
Oligohydraminos
Connexin proteins
483. Tight junction
Integrin proteins
>> Bullous pemphigoid
487. Mild intellectual
disability, long
legs,
cryptorchidism >
infertility and low
inhibin due to
Claudin, occludin proteins failing sertoli
cells, testosterone
production less
effected by
temperature >
increased FSH
and LH >
gynecomastia
Klinefelter Syndrome (47 XXY) with
inactivated X (Barr body)
488. Direct vs. Indirect 498. Isoretinoin Microcephaly, thymic hypoplasia, small ears,
hernia as a hydrocephalus
teratogen MUST use contraception.
499. Lithium as a Atrialized right ventricle = Ebstein's anomaly
teratogen Nephrogenic DI, hypothyroidism
500. Methimazole Thyroid drug: Aplasia cutis congenita: absent
as a patch of epidermis on back of head (hair)
teratogen
Direct: Medial to inferior epigastric 501. Phenytoin as Fetal Hydantoin syndrome: cleft palate,
vessels, protrudes through abdominal a teratogen cardiac defects, nail/finger hypoplasia
wall Neural tube defects
Indirect: Lateral to inferior epigastric502. Tetracyclines Discolored teeth
vessels, protrudes through as a
internal/deep inguinal ring (an opening teratogen
in the transversalis fascia) -- if
congential due to patent processus 503. Thalidomide Limb defects (flipper limbs)
vaginalis as a
teratogen
489. Twinning Monozygotic: share a placenta,
seperate amniotic fluid AKA 504. Valproate as Neural tube defects: inhibition of maternal
monochorionic/diamnionic a teratogen folate absorption.
490. Sommatomammotropin Secreted by the syncytiotrophoblast 505. Warfarin as Bone deformities (stippled epiphysis), fetal
(human placental (like hCG), causing insulin resistance in a teratogen hemorrhage, abortion, opthalmologic
lactogen) pregnant women and gestational abnormalities, nasal hypoplasia
diabetes 506. Alcohol as a Leading cause of intellectual disability in the
491. Teratoma teratogen US.
Retardation, microcephaly, facial
abnormalities (smooth philtrum,
hypertelorism [eyes are wide apart]), limb
dislocation, heart defects. Heart-lung fistula
and holoprosencepahyl.
Failure of cell migration
507. Cocaine as a Abnormal fetal growth, fetal addiction,
teratogen placental abruption
508. Nicotine/CO Low birth weight, preterm labor, placental
Benign in women, malignant in men
as a problems, IUGR, and ADHD
492. ACE-I as a teratogen Renal damage (dysgenesis) > teratogen Nicotine is vasoconstriction, CO impairs O2
oligohydramnios delivery
493. Carbamazepine as a Facial dysmorpism. Developmental 509. Iodine Congenital goiter or hypothyroidism
teratogen delay. Neural tube defects. Finger (excess and (cretinism)
hypoplasia. lack) as a Excess > Wolff-Chaikoff effect, gland
494. Alkylating agents as a Absent fingers and toes teratogen downregulates
teratogen 510. Maternal Caudal regression syndrome (anal atresia to
495. Aminoglycosides as a CN VIII toxicity = Deafness. diabetes as sirenomelia) (mermaid syndrome)
teratogen a teratogen Transposition of the great vessels, Neural
tube defects,
496. Diethylstilbestrol as a Vaginal clear cell adenocarcinoma. Transient hypoglycemia and Macrosomia
teratogen Mullerian anomalies. (beta cell hyperplasia and hyperinsulinemia)
497. Folate antagonist Neural tube defects Neonatal Respiratory Distress Syndrome
(Methotrexate) as a 511. Vit. A excess Spontaneous abortions and birth defects
teratogen as a (cleft palate, cardiac)
teratogen
512. X-rays as a Microcephaly, intellectual disability 517. Brachial Arches - same 1: V nerve, 2: VII, 3: IX, 4/6: X
teratogen Use lead shield as tongue
513. Polyarteritis 518. DRESS syndrome Drugs, Rash, Eosinophilia, Swelling,
nodosa Serum ALT
519. Essential Tremor AD, improves with alcohol
Tx: Propranolol
520. Ataxia, spider angiomas, Ataxia Telangiectasia
IgA deficiency, high AFP ATM mutated gene responsible for DNA
break repair
521. Macular Degeneration
515. MI evolution 522. Internal Capsule Stroke Pure motor weakness contra laterally
(arm, leg, and lower face)
523. Thalamic Stroke Unilateral hemisensory loss including
face (R body, R face)
524. Cheyenne-Stokes
breathing
SWELLING
Loss of villi, RER swelling so decrease in Misfolded protein that deposits in
protein synth, membrane blebbing extracellular space causing damage
528. Irreversible cell Membrane damage B-pleated sheet
damage Leakage of cell proteins Congo red stain/apple green
LFT's, troponin, CK, leakage of Cyc C or birefringence
leakage of lysosomal enzymes > Primary: AL amyloid derived from light
apoptosis chain causing nephrotic syndrome,
restrictive cardiomyopathy
529. Loss of nucleus Pyknosis: shrinks (transthyretin), tongue size, pancreas
Karyorrhexis: breaking up (amylin)
Karyolysis: final break down Secondary: SAA aKute phase reactant in
530. Apoptosis Option 1) Inactivation of Bcl2, allowing chronic inflammatory states
leakage of cyt c from mitochondria 533. Medullary
Option 2) FAS ligand binds CD95 (ie carcinoma of
neg selection) thyroid
Option 3) CD8+ Perforins creates pores (Medullamy
and allows granzymes to activate calcitoma)
caspases
THEN CASPASES activate:
Proteases (cytoskeleton)
Endonucleases (DNA)
531. Free radical Superoxide dismutase (O2), ie Calcitonin deposits, parafollicular C-cells
removal (post reperfusion injury Sheets of cells in an amyloid stroma
NADPH oxidase) Catalase (H2O2) MEN2A and 2B (Ret mutations
Glutathione peroxidase (OH - most
534. Cavernous
dangerous)
sinus
597. Digitalis (digoxin) anti-dig Fab fragments 612. TNF Secreted by macrophages
overdose tx alpha Mediates septic shock. Activates endothelium (e-
selectin and CAMs).
598. Heparin overdose tx Protamine sulfate
Cachexia and fever
599. Iron overdose tx Deferoxamine, deferasirox
613. IL2 Secreted by T cells
600. Lead overdose tx EDTA, dimercaprol, succimer, Stimulates growth of helper, cytotoxic, and
penicillamine regulatory T cells, and NK cells.
601. Mercury, arsenic, gold Dimercaprol (BAL), succimer Cortisol and Corticosteroids block IL2
overdose tx production, leading to reactivation of TB and
candidiasis
602. Methemoglobin overdose Methylene blue, vitamin C
tx 614. IL3 Secreted by T cells
Supports growth and differentiation of bone
603. Opioids overdose tx Naloxone, naltrexone marrow stem cells. Functions like GM-CSF.
604. Salicylates overdose tx NaHCO3 (alkalinize urine), 615. IFN Secreted by Th1 cells
dialysis gamma Secreted by NK cells in response to IL-12 from
605. TCAs overdose tx NaHCO3 (plasma alkalinization) macrophages; stimulates macrophages to kill
phagocytose pathogens.
606. tPA, streptokinase, Aminocaproic acid
Also activates NK cells to kill virus-infected cells.
urokinase overdose tx
Increases MHC expression and antigen
607. Warfarin overdose tx Vitamin K (delayed effect), presentation by all cells.
fresh frozen plasma (immediate)
616. IL4 Secreted by Th2 cells
Require epoxide reductase in
Induces differentiation into Th2 cells. Promotes
liver to gamma carboxylate
growth of B cells. Enhances class switching to IgE
2,7,9,10,C,S
and IgG.
608. IL1 Secreted by macrophages
617. IL5 Secreted by Th2 cells
AKA Osteoclast-activating
Promotes differentiation of B cells. Enhances class
factor.
switching to IgA. Stimulates growth and
Causes fever, acute
differentiation of eosinophils.
inflammation.
Activates endothelium to 618. IL10 Secreted by Th2 cells
express e-selectin and CAMs. Modulates inflammatory response. Decreases
expression of MHC class II and Th1 cytokines.
Inhibits activated macrophages and dendritic cells.
Also secreted by regulatory T cells.
TGF-β and IL-10 both reduce the immune
response.
619. How do cytotoxic Perforin and Granzyme 633. Anti-glutamic acid Type 1 diabetes mellitus
and NK cells kill? Cytotoxic also binds via MHCI, but NK decarboxylase (GAD-
does not 65)
Cytotoxic kills resp and liver cells in flu
634. Anti-Jo-1(histdyl-
and Hep A
tRNA synthetase),
620. Tregs Suppress CD4 and CD8 anti-SRP, anti-Mi-2
Produce anti inflammatory IL10 and
TGF-B
Express CD3, CD4 and CD25 and
FoxP3 (TF)
621. T cell activation B7 (APC) and CD28 (T cell)
costimulatory
signal Polymyositis (CD8 - endomysial
inflammation)
622. B cell class CD40 (B cell) and CD40L (T cell)
Dermatomyositis (CD4 and risk of
switching signal Produce IL4 and IL5 to switch
adenocarcinomas - perimesium
with T cell
inflammation)
623. C3b (and IgG) Opsonization, clears immune complex Proximal muscle weakness
624. C3a, C4a, C5a Anaphylaxis 635. Antimicrosomal,
C3a and C5a activate mast cell antithyroglobulin,
degranulation antithyroidperoxidase
625. C5a Neutrophil chemotaxis
Upregulate integrin
626. C5b-9 Mac Complex (Neisseria)
Lyses microbes by creating holes in the
membrane
627. IFN alpha and Innate host defense against viruses
beta Glycoproteins synthesized by virus-
infected cells that prime uninfected Hashimoto thyroiditis
cells for defense by degrading viral Hurthle cells
DNA and protein Risk of non-hodgkin's lymphoma
Induces Apoptosis, limiting viral (marginal cell)
amplification Enlarged and NONTENDER
671. Telomerase
Hyperglycemia
Hypocholesterolemia
Scalloped Colloid
Exophthalmos
^ Na+/K+ ATP-ase
696. MEN2B 711. Creutzfeldt-
Jakob disease
722. What decreased enzyme Pyruvate dehyrodgenase isn't 738. Ornithine Only X-linked Urea cycle disorder
activity leads to lactic converting enough pyruvate to Acetyltranscarbamylase Vomiting, tachypnea, and confusion
acidosis? CoA, so it is converted to lactate deficiency (OTC) (hyperammonemia) with elevated
instead urinary orotic acid and low BUN
Tx: avoid proteins
723. What is the most abundant Glycine (also lysine and proline)
AA in CoLlaGen? 739. Thiamine Dry beriberi: peripheral neuropathy,
deficiency weakness
724. Western/Northern/Southern W=proteins, N=mRNA, S=DNA, SNoW
Wet: ♥ failure
Blots DRoP
W-K: confusion, opthalmoplegia,
725. Arginase deficiency Part of urea cycle, Tx: low-protein diet ataxia, perment memory loss, damage
without arginine to mammillary bodies
726. P bodies Regulate mRNA translation in the Important in pyruvate
cytoplasm dehydrogenase, branched chain
alpha-ketoacid and alpha KG
727. What activities occur within Replication, Transcription, Post-
dehydrogenase, and TRANSketolase
the nucleus? transcription modifications (cap/tail)
740. What is required Primers: nucleotide sequence of the
728. Which carbohydrate is Fructose-1-Phosphate
for PCR? regions flanking the target exon
metabolized the fastest?
729. Where does glucose come Overnight: Glycogenolysis (glycogen);
from when you're starving? Day 2: Gluconeogenesis from muscle
741. Tay-Sachs, AR 747. Polyol Glucose > Aldose reductase > Sorbitol
pathway: (gets stuck) > Sorbitol dehydrogenase >
Cataracts or Fructose
sperm Risk of cataracts and neuropathy with
nutrients hyperglycemia
748. Pyridoxine B6 - Transamination (nitro) reaction
between amino acid and a alpha-keto acid,
can cause sideroblastic anemia
IE: oxacloacetate and aspartate
749. Difference Marfan's: MicroFibrils, aortic
between aneurysms/dissections
Marfan's and ED: collagen (hypermobile), berry
Ehlers- aneurysm
B-hexosaminidase A deficiency Danlos?
GM2 metabolite increase.
Macrocephaly, startle reflex, cherry-red 750. Porphyria Uroporphyrinogen decarboxylase
fovea surrounded by white macula, cutanea tarda deficiency, resulting in abdominal pain,
regression of motor skills, onion skin (PCT) neuro symptoms, and photosensitive hyper
lysosomes, NO hepatosplenomegaly pigmented blistering
742. Adenylate TSH, glucagon (DMI), and PTH receptors 751. Lactate Shock hypo perfuses the organs, resulting
cyclase Acidosis in impaired oxidative phosphorylation
messenger which increases build up of lactic acid
system is causing an acidosis
utilized by? 752. Trisomy 13 vs. 13: cleft palette, polydactyly, high nuchal
743. Homocystinuria Cystathione synthase deficiency 18 translucency
Lens subluxation, thrombosis, marfanoid, 18: low-set ears, small gaw, overlapping
intellectual disabiliity fingers, rocker bottom feet, low labs
Tx: pyridoxine 753. Hereditary Anemia, high orotic acid crystals,
744. X-linked orotic retardation, defect in UMP synthase,
sideroblastic acuduria supplement with uridine
anemia 754. Nitric Oxide NO is synthesized from arginine
(microcytic) derivative
755. Loss of Two hit hypothesis
heterozygosity
756. Myotonic AD, CTG trinucleotide repeat
Dystrophy Frontal balding, testicular atrophy, muscle
wasting (no fatty deposits)
757. Vitamin E Hemolytic anemia, posterior and
Delta-Aminolevulinate (ALA) synthase
deficiency spincocerebellar tract demyelination
Low protoporphyrin synthesis, so iron
Looks like B12 def but without labs or
accumulates in mitochondria
hypersegmented neutrophils
Alcohol abuse, lead poisoning, copper
deficiency, and isoniazid (B6) 758. NADH/NAD Alcohol metabolism (alcohol
Ringed sideroblasts on prussian blue stain ratio increased dehydrogenase and acetaldehyde
dehyrodgenase)
745. Alkaptonuria AR homagentistic acid dioxygenase
Causes lactic acidosis and prevents
deficiency
gluconeogenesis
Arthritis and urine turns black when
exposed to air, dark skin 759. Polyploidy When more than two complete sets of
chromosomes exist in a cell or organism
746. Transmembrane Valine, Alanine, Isoleucine
(XXY or XYY)
protein amino
acids 760. Pleiotropy Multiple phenotypic manifestations result
(anchoring) from a single gene mutation
761. Homeobox 180 nucleotides that code for for DNA- 774. DiGeorge Maldevelopment of 3 and 4 pharyngeal
binding transcription factors that are Syndrome pouches, fascial dysmorphia, cardiac
important to morphogenesis (proper shunt, lack of T-cells, undeveloped
formation/placement of tissues in paracortex
body)
775. Superficial All Skin from the belly button down,
762. Linkage When a pair of alleles from two loci Inguinal Nodes including the anus, excluding the testes
Disequilibrium are inherited together in the same and posterior calf
gamete more/less often than random
776. Tongue Anterior 2/3: V3 for sensation, CT (7) for
chance would expect
Sensory taste; Posterior 1/3: Glossopharyngeal (9)
763. Heteroplasty Presence of different organellar
777. What organ is The spleen (mesodermal origin), BUT the
genomes (wile type, mutated) within a
most spleen is NOT retroperitoneal
single cell
commonly
764. Law of segregation Offspring only inherit half of each injured on
parent's composition trauma?
765. Kinesin and Dynen K-anterograde transport, D-retrograde 778. Pudendal Supplies sensation to external genitalia
transport on microtubules nerve and perineum (external hemorrhoids,
below dentate line)
766. What artery lies Superior Mesenteric Artery
between the 3rd 779. Lower Trunk of Upward jerking of the arm (tree branch),
part of the brachial Plexus damages intrinsic muscles of the hand and
duodenum and the Injury claw hand
pancreas? Also damaged with compression of nerve
and subclavian vessels (extra cervical rib,
767. What causes foot Injury to common peroneal nerve
pancoast tumor)
drop? Fibula neck fracture
Loss of dorsiflexion/eversion/dorsum 780. Pancreatic Ventral and dorsal pancreatic buds fail to
sensation Divisum fuse, dorsal contributes most of the
pancreas, but the ventral contributes the
768. What is the most GU abnormalities, like urinary tract
main pancreatic duct
common defect
association with 781. Direct Inguinal Older men, weakness of transversals
imperforate anus? Hernia fascia, travels medial to vessels, remains
superficial
769. What vein drains Splenic vein, can get a clot when
most of the patient has pancreatitis 782. Indirect Young adults and children, Patent
stomach? inguinal hernia processus vaginalis as the internal inguinal
ring does not close, protrudes through
770. Colon blood Left: superior mesenteric, Right:
deep inguinal ring and travels laterally to
supply inferior mesenteric, Sigmoid: internal
vessels
iliac
783. Median nerve Flexor Digitorum Superficialis and Flexor
771. What muscle is Serratus Anterior
(supracondyler digitorum profundus, pain with wrist
under your armpit
fracture) flexion and lost sensation in first three
and along your
digits
side?
784. Piriform recess Internal laryngeal nerve (X) provides
772. How is the In addition to facial sensation it helps
nerve sensory innervation and the cough reflex
mandibular the chewing muscles and tensor
division of the tympani!! (TMJ) 785. Stapedius Branch of facial nerve, paralysis of muscle
trigeminal nerve nerve will cause increased sensitivity to sound
different?
786. Reflexes L4: Patella, S1: Achilles
773. What part of the Herring Bodies
787. Wrist Drop Radial nerve injury after mid shaft humeral
pituitary derives
(loss of fracture or use of crutches, accompanied
from the
extension) by deep brachial artery damage
neuroectoderm?
Loss of posterior sensation
(arm/forearm/hand)
788. Supinator Radial nerve, Failed extension of fingers
Canal and thumb
789. What innervates Femoral nerve 802. Shin splints Compartment syndrome, compression of
the patellar deep perineal nerve and anterior tibial
tendon? artery, weak pulses and loss of sensation
between big and 1st toe
790. Trendelenburg
Sign 803. What tendon Extensor hallucis longus
runs with the
dorsals pedis
artery?
804. Where is the Between medial malleolus and the achilles
posterior tendon
tibial pulse?
805. Baker's Compress tibial nerve leading to inability to
(Popliteal) plantar flex and loss of plantar sensation,
Cyst can't curl toes
806. Lumbar Between L3/L4 or L4/L5, use Iliac crest (L4)
Puncture as a guide
Superior gluteal nerve, upper medial
Does not pierce the PIA
gluteal injection
Gluteus medius/minimus injured, 807. Disk Damages nerve below the compression, Ie
contralateral hip drops when he lifts his protrusion L4/L5, L5 is damaged because L4 comes
left foot off the floor out before the compression
791. Femoral neck Surrounded by anastomasies, majority 808. Hip Torn ilio/ischio femoral ligments, sciatic
fracture by medial circumflex femoral artery dislocation nerve and gluteal muscles in danger
792. Attachment ASIS and pubic tubercle 809. Winged Serratus anterior, long thoracic nerve
points for scapula (lateral thoracic artery)
Inguinal ligament Mastectomy, no arm abduction
793. What is in the Femoral artery, superficial inguinal 810. Dislocated Axillary nerve (Deltoid, teres minor, and
Femoral lymph nodes, femoral hernias! shoulder sensation over lateral part of arm)
triangle? (posterior circumflex artery)
794. Medial collateral Attached to medial meniscus, prevents 811. Shoulder AC ligament tear, with clavicle fracture...
ligament abdcution of tibia seperation "piano key" deformity
795. Deltoid Ligament Eversion sprains 812. Ulnar nerve Passes posterior to the medal epicondyle,
(Claw hand inability to flex the digitorum profundus,
796. Anterior Inversion sprain, "Low ankle sprain", most
when distal) sensation loss at ring finger
talofibular common
Guyon canal syndrome compression at
ligament
wrist (bikers)
797. Anterior High ankle sprain, inversion sprain Also hook of hamate fracture
tibiofibular
813. Median Lateral 3.5 digits of palm and DIP on back
798. Iliofemoral Resits anterior displacement of hip and cutaneous of hand
ligament prevents hyperextension nerve
799. Ischiofemoral Resists posterior displacement of sensation
ligament femoral head 814. Superficial Supplies sensation to dorsolateral part of
800. Prepatellar Housemaid's knee branch of the hand
Bursistis Working on knees, results in swelling radial nerve
801. Fibula neck Common peroneal nerve, inability to 815. Deep branch Motor to the extensor muscles and the
fracture evert the foot of radial supinator
nerve
816. Lateral Travels deep to brachioradialis
cutaneous
nerve of
forearm
817. Scaphoid fracture Anatomical Snuffbox > Radial artery 835. Tumor in the head of Common bile duct
here the pancreas would
Avascular necrosis, most commonly block which
injured wrist bone structure?
818. Lunate dislocatoin Carpal tunnel syndrome (tinel sign) 836. Foregut supply Celiac trunk
Median nerve, paresthesia in the
837. Midgut supply Superior Mesenteric Artery
lateral 3 and half digits, difficulty
opposing the thumb 838. Hindgut supply Inferior mesenteric artery
Can also be caused by dialysis (B2 839. "Double bubble" sign Overfilled stomach and duodenum
microglobulin) caused by duodenal atresia
819. Supraspinatus Initiates abduction for first 15 (trisomy 21)
degrees, before deltoid takes over 840. Annular pancreas Abnormal migration of the ventral
Most common rotator cuff injury pancreatic bud, Can compress
820. Teres Lateral rotation of arm duodenum, causing vomiting
minor/Infraspinatus Pitching injury of intraspinatus 841. Triangle of Calot Cystic artery, bile duct, liver
teres minor also adducts (axillary
842. Left colic flexture Vagus nerve supplies 2/3 of
nerve)
transverse colon, Pelvic splanchnic
821. Subscapularis Medial rotation and adduction nerve supplies to distal colon
muscle
843. Metanephros Definitive kidney
822. Smith's Fracture Fracture of distal radius, angled
844. Obstetric conjugate Length between pubis symphonis to
foreword, fall backward
the sacrum
823. Colle's fracture Falling forward, bones pulled
845. Spinal epidural nerve Inject anesthetic in epidural space
posteriorly, fracture of distal radius
block at sacral hiatus, peritoneum is
824. Mechanics of Inspiration: diaphrgam; Expiration: desensitized, woman can still feel
breathing contractions
825. Right coronary RV, RA, posterior 1/3 of septum, AV 846. Median episiotomy Cut the perineal body to make
artery and SA nodes room for head
826. Anterior Apex of heart Media-lateral cuts the transverse
interventicular perineal muscle
artery (LAD) 847. How to access Posterior Fornix of vagina
827. Right or left Which artery supplies the posterior rectouterine pouch
dominant heart? interventicular artery (Pouch of douglas)?
828. Heart layers Fibrous, Parietal, Visceral (Serous) 848. Which part of the Spongy urethra
urethra is most likely
829. Pre ductal vs. Depends on ductus arteriosus
to be damaged by
Postductal
trauma?
coarcation
849. Normal position of Anteverted and anteflexed
830. Needle aspiration ABOVE the rib
the uterus
site
850. What ligaments Uterosacral, lateral/cardinal
831. Costodiaphragmatic 8th-12th rib
prevent uterine ligamnet, round ligament, pelvic
recess
prolapse? diaphragm
832. If you choke on a Right mainstream bronchus (more
851. CN V Trigeminal nerve, supplies sensation
peanut, where does vertical)
to the face
it go?
852. Cavernous Sinus III, IV, VI, and V1 pass through and
833. Left recurrent Wraps under arch of the aorta, can
VI is most likely to be affected first
laryngeal nerve display hoarseness when aorta is
by hemorrhage of ICA
enlarged
853. Papiledema Occlusion of the ophthalmic vein,
834. Superior vena cava Tumor can compress SVC and cause
swollen optic nerves
syndrome swelling of face, JVD, and visible
chest veins
854. Blink reflex V1 sensory (long and short ciliary 875. Hyperchylomicronemia AR - lipoprotein lipase or C-II cofactor
nerve), Facial nerve closes the deficiency
orbicularis oculi Creamy layer in supernatant
855. Parotid Tumor Compresses the facial nerve 876. Peripheral neuropathy Fabry disease (XR)
causing facial droop of hands and feet, Def alpha galactosidease, build up of
angiokeratomas, renal ceremide trihexoside
856. Bell's Palsy Lesion to facial nerve, sensitivity to
failure
sound, facial paralysis, loss of taste
(chorda tympani - anterior tongue), 877. Maturity onset AD glucokinase mutation
drooling diabetes of the young Glucose can't be converted to G6P
857. Horner's Syndrome Sympathetic trunk/cervical ganglion 878. G6PD deficiency
damage, results in ptosis, pupil
constriction, vasodilation, and
absence of sweating
858. Sphenopalatine Profuse nosebleed
artery
859. Pterygoid (vidian) Presynaptic parasympathetic nerve
canal travels with facial nerve
860. Chorda Tympani 2/3 anterior tongue, submandibular
Low NADPH leads to hemolytic anemia
and sublingual gland
(free radicals) with bite cells and heinz
861. Superior lyarngeal Sensation above vocal cords bodies
nerve Fava beans, sulfonamides, primiquine,
862. Recurrent laryngeal Sensation below the vocal cords dapsone
nerve X-linked recessive
863. Emergency situation Cricothyroid membrane 879. Watery diarrhea and Arsenic poisoning, blocking lipoic acid
in which you need to garlic breath
provide O2 and can't 880. Essential fructosuria or EF: fructokinase def, bypass with
intubate fructose intolerance? hexokinase
864. Ansa cervicalis Infra hyoid muscles, C1-C3 FI: Aldolase B def, worse disease
865. Carotid Sinus Respond to blood pressure, Carotid 881. Galactokinase def or GKD: mild, avoid lactose, galactitol
Body responds to partial pressures Classic galactosemia? accumulates to form cataracts
of O2/CO2, supplied by CG: G-1-P uridyl transferase deficiency,
glossopharyngeal nerve cataracts, jaundice, failure to thrive
866. Articular eminence Critical in the TMJ 882. Sucrose Lactose S: Fructose and Glucose
Maltose L: Galactose and Glucose
867. Palatoglossus Vagus nerve supplies this tongue M: Glucose and Glucose
muscle
883. Riboflavin aka FADH Anemia mouth or lip sores, skin
868. Uvula/Tongue Uvula deviates to good side (X), disorders sore throat swelling of
deviation Tongue deviates to bad side (XII) mucous membranes and sensitivity to
869. Gag reflex Glossopharyngeal (IX) sensory, light/eye fatigue
Motor (X) 884. Peroxisomes Break down fatty acids and produce
870. Tonsillectomy Damage to glossopharyngeal nerve hydrogen peroxide
871. Levator veli palatini Muscle that prevents food from 885. DNA pol I vs. DNA pol Pol III is the primary one
going into nose III Pol I replaces RNA primer with DNA,
AND has exonuclease activity
872. Stylopharyngeus Innervated by IX
886. Biotin (B7) Def. Carboxylase deficiency
873. Pharyngeal Arches 1: Mastication/Jaw, 2: Facial nerve, 3:
Glossopharyngeal like taste, 4 and 887. Glutamate-Glutamine Within the brain, astrocytes and neurons
6: Pharynx/Palate cycle *** interact to regulate the metabolism of
glutamate, glutamine and ammonia.
874. B-100 Apolipoprotein that binds LDL
888. Reactive Chlamydia or bacterial GI infection 898. Osteopetrosis
Arthritis causing triad of mono-arthritis, (poor osteoclast
(Reiter's conjunctivitis, and urethritis, and function)
Syndrome) SOMETIMES sacroillitius
Causes
889. Psoriasis
904. Superficial Popliteal lymph node gets dorsolateral 913. Waldenstrom's Monoclonal IgM M spike, no lytic
inguinal or foot and posterior calf macroglobulinemia bone lesions or hypercalcemia,
popliteal? proliferation of plasma cells
905. Right lymphatic Right side of body above the 914. IFN function Inhibit protein synthesis by
duct diaphragm, everything else by thoracic degrading viral mRNA
duct 915. What Ig goes with Initial: IgM, Secondary: IgG
906. Spleen pulp initial, and then
secondary response?
916. Post Strep Acute Deposited Immune complexes, not
Glomerulonephritis is preventable by antibiotics
caused by
917. What is the best way Corticosteroids
to immune-suppress
transplant recipents?
T Cells: PALSheath in white pulp 918. Humoral Immunity B cells (B for banter)
B cells: white pulp follicles
Marginal zone: APCs 919. Cellular immunity T cells
983. AcH toxicity Atropine and tricyclics like Amitriptyline 999. Heroin withdrawal N/V, cramping, dilated pupils,
cause "hot as a hair, dry as a bone, red yawning
as a beet, blind as a bat, mad as a 1000. How do you treat Fluoxetine
hatter", due to inhibition of Na+ channels bulimia nervosa
984. Lithium Tx: Bipolar, SE: Induced Type I diabetes 1001. Buspirone Nonbenzo anxiolytic for
by antagonizing vasopressin preventing generalized anxiety disorder,
the CD's ability to concentrate urine, slow onset, few side effects
Can also affect TSH
1002. Methylphenidate ADHD, decreases reuptake of
985. Venlafaxine SNRI for depression, risk of developing NE and dopamine
a manic episode
1003. Olanzapine and Olanzapine: Hyperglycemia and
986. Phenylephrine alpha1 agonist, decreases HR and Clozapine side effects? lipidemia> obesity
increases vascular resistance Clozapine: BM suppression
987. How does Binds allosterically to GABAa receptors 1004. How do you Dependent: long term
lorazepam work? differentiate borderline relationships, scared to leave
988. Neuroleptic Adverse reaction to antipsychotics with and dependent them, Borderline: impulsivity and
Malignant severe "lead pipe" rigidty, FEVER, and disorder? unstable relationships, "splitting,"
Syndrome mental status changes suicidal threats
989. Serotonin Similar to NMS but caused by serotonin 1005. Projection Misattirubitng one's owns
Syndrome medications, and has HYPERreflexive feelings to others, i.e. angry
muscle activity child thinks his divorcing parents
are "angry" at him
990. ADHD Before age 12, inattentive and
hyperactive symptoms in two settings 1006. Reaction formation Responding in a manner
(home AND school) opposite to one's feelings
1007. Rett syndrome Neurodevelopment of child (girl, as 1021. Schizoid vs. Schizoid: loner, unemotional;
boys die in utero) fails between age Schizotypal Schizotypal: Eccentric with odd
1-4, with poor head growth thoughts/behavior
1008. Bupropion Antidepressant with no sexual side 1022. Alpha vs Beta
effects or weight gain, can cause thalessemia
seizures
1009. Rat Poison "Superwarfarin" Tx: fresh frozen
plasma for it's clotting factors
1010. Cyanide Poisoning Dyspnea, palpitations, flushed skin,
Tx: nitrates
1011. Lipid Soluble Thiopental is rapidly redistributed
Barbiturates in throughout the rest of the tissues
anesthesia after crossing the BBB, and loses
Alpha: Gene deletion (african-
effect (NOT due to metabolism)
trans/asian-cis)
1012. Anorexia Nervosa BMI <18.5, distorted body image, Beta: Pt mutation (Mediterranean), target
osteoporosis, amenorrhea, cell
arrythmias, salivation gland swelling
1023. OCD vs OC OCD: compulsions, time consuming,
if binge eating/purging sub-type
personality counting
1013. How is bulimia Patients with bulimia nervosa disorder OCPD: insistence on control and
nervosa different maintain body weight, anorexia orderliness
than anorexia nervosa have low BMIs
1024. Hepatic Rare, benign liver tumor, often related to
nervosa (Subtype
Adenoma oral contraceptive or anabolic steroid
binging/purging)?
use; may regress spontaneously or
1014. Trazadone Antidepressant for insomnia by rupture
inhibiting serotonin reuptake, SE:
1025. PCP vs. LSD PCP: nystagmus, dissociation, violence
priapism
LSD: visual hallucinations, tachycardia
1015. Organophosphates Found in pesticides, can cause
1026. Alpha-1- Panacinar emphysema
cholinergic overstimulation by
antitrypsin Intrahepatic accumulation of AAT
inhibiting cholinesterase, Tx:
deficiency molecules leading to cirrhosis
atropine
PAS stain +
1016. Methadone vs. Methadone: long half life, mu-
1027. Hepatoduodonal Common bile duct
Buprenorphine receptor agonist; Burprenorphine:
ligament Hepatic Artery
shorter half life, partial agonist, less
Portal Vein
SE (hard to overdose)
1028. Portal Esophageal varices
1017. How can you Look for child doing well in school
hypertension or Caput medusa
differentiate normal and hanging out with friends, social
thrombosis Anorectal varices
puberty and a isolation and academic failure
psychotic disorder? would be more indicative of a 1029. Acute interstitial
disorder nephritis
1018. Recurrent Panic Attack, Tx: benzodiazepine
unexplained chest
pain in young healthy
adults
1019. Suicide interventions Remove access to firearms,
decrease stress, provide support,
treat psychiatric illness, manage
pain
NSAIDs, penicillin, diuretics
1020. Avoidant vs. Avoidant: fear of criticism/rejection; Fever and rash, eosinophils in urine
Antisocial Antisocial: Disregard/violation of Can progress to renal papilary necrois
personality disorder others, often involved in criminal (also caused by sickle cell trait/DM)
behavior
1030. Schistosoma Middle eastern male >> bladder 1036. Arnold-Chiari
hematobium squamous cell carcinoma malformation
1031. Where is epo Renal Interstitial cells in peritubular
made? capillary bed
1032. Hemostasis