classic presentations Flashcards

1
Q

Abdominal pain, ascites, hepatomegaly

A

Budd chiari syndrome ( post hepatic venous thrombosis)

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2
Q

abdominal pain, diarrhea, leukocytosis, recent antibiotic use

A

C diff

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3
Q

achilles tendon xanthoma

A

Familial hypercholesterolemia (decreased LDL receptor signaling)

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4
Q

adrenal hemorrhage, hypotension, DIC

A

waterhouse-Friderchsen syndrome (meningococcemia)

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5
Q

Anaphylaxis following blood transfusion

A

IgA deficiency

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6
Q

anterior drawer sign

A

anterior cruciate ligament injury

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7
Q

arachnodactlyly, lens dislocation (upward), aortic dissection, hyperflexible joints

A

marfan syndrome (fibrillin defect)

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8
Q

Athlete with polycythemia

A

secondary to EPO injections

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9
Q

back pain, fever, night sweats

A

Pott disease (vertebral TB)

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10
Q

Bilateral acoustic schwannomas

A

NF-2

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11
Q

Bilateral hilar adenopathy, uveitis

A

sarcoidosis

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12
Q

black eschar on face of patient with DKA

A

Mucor or rhizopus infectgion

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13
Q

Blue sclera

A

osteogenesis imperfect (defect in type 1 collagen synthesis)

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14
Q

bluish line on gingiva

A

burton line lead poisoning

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15
Q

Bone pain, bone enlargement, arthritis

A

Paget disease of the bone (increased osteoblast and osteoclast activity

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16
Q

Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing

A

aortic regurgitation

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17
Q

butterfly rash and raynaud phenomenon in a young female

A

SLE

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18
Q

Cafe au lairt spots, Lish nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas.

A

NF-1

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19
Q

cafe-au lait spots (unilateral), Polyostotic fibrous dysplasia, precocious puberty, multiple endocribe abnormalaties

A

Mccune albright syndrome (mosaic G protein signaling mutation)

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20
Q

Calf psuedohypertrophy

A

muscular dystrophy (most commonly duchenne, due to X-linked recessive frameshift mutation of dystrophin gene)

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21
Q

cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjuctivae and tongue, hand foot changes

A

kawasaki disease (treat with IVIG and aspirin)

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22
Q

cherry red spots on macula

A

Tay Sachs (GM2 ganglioside accumalation) or Nieman-pick disease (sphingomyelin accumalation).. central retinal artery occlusion

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23
Q

chest pain on exertion

A

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

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24
Q

chest pain, pericardial effusion/friction rub, persistant fever following MI

A

Depending on time line fibrinous pericarditis 1-3 days post or dressler syndrome 2 weeks or more post Mi (Autoimmune mediated)

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25
Chest pain with St depression of EKG
Unstable angina (negative troponins) or NSTEMI (positive troponins)
26
child uses arms to stand up from squat
Duchenne muscular dystrophy gower's sign
27
child with fever later develops red rash on face that spreads to body
erythema infectiosum/fifth disease (slapped cheeks appearence, caused by parvo B19)
28
chorea, dimentia, caudate degeneration
Huntington disease. (autosomal dominant CAG repeat expansion)
29
chorioretinitis, hydrocephalus, intracranial calcifications
congenital toxoplasmosis
30
chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle disease (skeletal muscle glycogen phosphorylase deficiency)
31
Cold intolerance
Hypothyroidism
32
conjugate horizontal gaze palsy, horizontal diplopia
Internuclear opthalmoplegia (damage to MLF; may be unilateral or bilateral)
33
continuous machine like heart murmur
PDA
34
cutaneous/dermal edema due to connective tissue deposition
myxedema (caused by hypothyroidism, graves disease (pretibial))
35
cutaneous flushing, diarrhea, bronchospasm
carcinoid syndrome (right sided valvular lesion)
36
Dark purple skin/mouth nodules in a person with aids
kaposi sarcoma HHV-8
37
deep, labored breathing/ hyperventilation
kussmaul respirations in DKA
38
dermatitis, dementia, diarrhea
pellagra from a niacin (Vit B3 deficiency)
39
dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet berriberri vitamin B1 deficiency
40
Dog or cat bite resulting in infection
pasturella multicoda (cellulitis at infection site or may spread deeper causing osteomyelitis)
41
dry eyes, dry mouth, arthritis
sjoren syndrome (autoimmune destruction of exocrine gland)
42
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
plummer vinson syndrome (may progress to esophageal squamous cell carcinoma )
43
elastic skin, hyper mobility of joints, increased bleeding tendency
Ehlers-Danlos syndrome (type V collagen defect, Type III collagen defect seen in vascular subtype of ED)
44
Enlarged left supraclavivular node
virchow node (abdominal metastasis)
45
Episodic vertigo, Tinitus, hearing loss
Meniere disease
46
erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Mycosis fungoides (cutaneous T cell lymphoma ) or sezary syndrome (mycosis fungoides + malignant T cells in blood)
47
Facial muscle spasm upon tapping
chvostek sign (hypocalcemia)
48
Fat, female, forty, and fertile
cholelithiasis
49
fever, chills, headache, myalgia following antibiotic treatment for syphilis
jarisch Herxheimer RXN (rapid lysis of spirochetes results in endotoxin release)
50
fever, cough, conjuctivitis, coryza, diffuse rash
measles
51
Fever, night sweats, weight loss
B symptoms of lymphoma
52
Fibrous plaque in soft tissue of penis with abnormal curvature
Peyronie disease (connective tissue disease)
53
Golden brown rings around peripheral cornea
Wilson disease (kayser-Fleischer rings due to copper accumulation)
54
Gout, intellectual disability, self mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
55
harmatomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia
Peutz-Jeghers syndrome (inherited benign polyposis can cause bowel obstruction; increased cancer risk mainly GI)
56
Hepatomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crisis
Gaucher disease (glucocerebrosidase deficiency)
57
Heriditary nephritis, Sensineural hearing loss, cataracts
Alport syndrome (mutation in collagen IV)
58
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
59
Hyperreflexia, hypertonia, babinski sign present
UMN damage
60
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
61
hypoxemia, polycythemia, hypercapnia
Chronic bronchitis (hyperplasia of mucous cells "blue boater")
62
Indurated, ulcerated genital lesion
nonpainful: chancre (primary syphilis, treponema pallidum) | Painful with exudate: chancroid (hemophilus ducreyi)
63
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (trisomy 13)
64
cinfant with hypoglycemia, hepatomegaly
Cori disease (debraching enzyme deficiency) or von Gierke disease (glucose 6 phosphatase deficiency, more severe)
65
Infant with microcephaly, rocker bottom feet, clenched hands and sructural heart defect
Edwards syndrome (trisomy 18)
66
Jaundice, palpable distended non-tender gallbladder
courvoiser sign (distal malignant obstruction of biliary tree)
67
large rash with bulls eye appearance
Erythema chronicum migrans from ixodes tick bite (Lyme disease borrelia)
68
Lucid interval after traumatic brain injury
epidural hematoma (middle meningeal artery rupture)
69
Male child, reccurent infections, no mature B cells
bruton disease (X-linked agammaglobulenemia)
70
mucosal bleeding and prolonged bleeding
glanzmann thrombasthenia (defect in platelet aggregation due to lack of GPIIb/IIIa)
71
Muffled heart sounds, distended neck veins, hypotension
beck triad of cardiac tamponade
72
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner syndrome
73
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe disease (lysosomal alpha 1,4-glucosidase deficiency)
74
neonate with arm paralysis following difficult birth
Erb-duchenne palsy 9superior trunk {C5-C^}brachial plexus injury "waiter's tip"
75
No lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome (pituitary infarction
76
Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia
M.S
77
painful blue fingers/toes, hemolytic anemia
cold agglutinin disease (autoimmune hemolytic anemia caused by mycoplasma pneumoniae, infectious mononucleosis, CLL)
78
painful fingers/toes changing color fro, blue to white to red with cold or stress
raynaud phenomenom (vasospasm in extremities)
79
painful, raised red lesions on pads of fingers/toes
osler nodes (infective endocarditis, immune complex deposition)
80
Painless eythematous lesions on the palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
81
painless jaundice
cancer of the pancreatic head obstructing bile duct
82
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
83
Pancreatic, pituitary, parathyroid tumors
Men 1 (autosomal dominant)
84
Periorbital and/or peripheral edema, proteinuria (>3.5g/day), hypoalbuminemia, hypercholesterolemia)
nephrotic syndrome
85
pink complexion, dyspnea, hyperventilation
emphysema (pink puffercentriacinar smoking or pan acinar alpha 1 trypsin deficiency
86
polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (multiple combined dysfunction of the proximal convuluted tubule)
87
Pruitic, purple, polygonal, planar papules and plauqes
Lichen planus
88
ptosis, miosis, anhidrosis
Horner Syndrome (sympathetic chain lesion)
89
Pupil accommodates but doesnt react
neurosyphilis (argyll robertson pupil
90
Rapidly progressive limb weakness that ascends following GI/ upper respiratory infection
Guillain Barre syndrome (acute inflammatory demyelinating polyradiculopathy subtype)
91
Rash on palms and soles
Coxsackie A, secondary syphilis, Rocky mountain spotted fever
92
reccurent cold (noninflammed) abscesses, unusual eczema, high serum IgE, coarse fascies, retained primary teeth
Hyper IgE syndrome (job sndrome neutrophil chemotaxis abnormality) (deficiency of Th17 due to STAT 3 mutation
93
red currant jelly sputum in alcoholic or diabetic patients
Klebsiella pneumoniae pneumonia
94
red currant jelly stools
Acute mesenteric ischemia (adults), intussusception (children)
95
Red Itchy swollen rash of nipple/ areola
paget disease of the breast (sign of underlying neoplasm
96
red urine in the morning, Fragile RBCs
Paroxysmal nocturnal hemoglobinuria
97
Renal cell carcinomas (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
Von hippel-lindau disease (dominant tumor suppressor gene mutation)
98
Resting tremor, rigidity, akinesia, postural instability, shuffling gait
parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)
99
Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
100
severe jaundice in neonate
crigler najjar syndrome (congenital unconjugated hyperbilirubinemia
101
Severe RLQ pain with palpation of LLQ
Rovsing sign (acute appendicitis)
102
Severe RLQ pain with deep tenderness
McBurney sign (acute appendicitis)
103
Short stature, cafe au lait spots, thumb/ radial defects, increase incidence of tumors/ leukemia, aplastic anemia
Fanconi anemia (genetic loss of DNA cross link repair; often progresses to AML)
104
single palmar crease
Down syndrome
105
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome (dynein arm defect affecting cilia)
106
skin hyperpigmentation, hypotension, fatigue
primary adrenocortical insufficiency (addison disease) causes increase ACTH and increase alpha MSH production
107
slow progressive muscle weakness in boys
becker muscular dystrophy (X-linked missense mutation in dysrophin; less severe than duchenne)
108
small, irregular red spots on buccal/lingual mucosa with blue white centers
koplik spots (measles [rubeola] virus)
109
smooth, moist, painless wart like white lesions on genitals
condylomata lata (secondary syphilis)
110
splinter hemorrhages in finger nails
bacterial endocarditis
111
strawberry tongue
scarlet fever, Kawasaki disease
112
streak ovaries, congenital heart disease, horseshoe kidney, cystic hydroma at birth, short stature, webbed neck, lymphedema
turner syndrome (45, XO)
113
sudden swollen/painful big toe joint, tophi
gout/podagra (hyperuricemia)
114
swollen gums, mucosal bleeding, poor wound healing, petechiae
scurvy (vitamin C deficiency: cant hydroxylate proline/ lysine for collagen synthesis)
115
swollen hard painful finger joints
osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP[herberden nodes]
116
systolic ejection murmur (crescendo decrescendo)
aortic stenosis
117
telangiectasias, reccurent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
Osler-Weber-rendu syndrome
118
thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant RET mutation)
119
thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant RET mutation)
120
Toe extension/fanning upon plantar scape
babinski sign (UMN lesion)
121
Unilateral facial drooping involving forehead
LMN facial nerve (CN VII) palsy; UMN lesions spare the forehead
122
urethritis, conjuctivitis, arthritis in a male
reactive arthritis associated with HLA-B27
123
vascular birthmark (port wine stain) of the face
Nevus flammeus (benign, but associated with sturge Weber syndrome)
124
vomiting blood following gastroesophageal lacerations
Mallory weiss syndrome (alcoholic and bulemic patients)
125
weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (tropheryma whipplei)
126
worst headache of my life
subarachnoid hemorrhage
127
increase in AFP in amniotic fluid
dating error, anencephaly, spina bifida (neural tube defects)
128
anticentromere antibodies
scleroderma (CREST)
129
anti-desmoglein (anti-desmosome)antibodies
pemphigus vulgaris
130
ant-glomerular basement membrane antibodies
Goodpasture syndrome (glomerulonephritis and hemoptysis
131
antihistone antibodies
drug induced SLE (hydralazine, isoniazid, phenytoin, procanimide)
132
Anti- IgG antibodies
rheumatoid arthritis (systemic inflammation, joint pannus, boutonniere deformity)
133
anti-mitochondrial antibodies
primary biliary cirrhosis (female, cholestasis, portal HTN)
134
ANCA
microscopic polyangiitis and eosinophilic granulomatosis with polyangiitis (ghurg strauss syndrome) (MPO ANCA/ p-ANCA); granulomatosis with polyangiitis (wegner; PR3-ANCA/c-ANCA)
135
antinuclear antibodies (ANAs: anti smith and anti-dsDNA
SLE ( type III hypersensitivity)
136
antiplatelet antibodies
idiopathic thrombocytopenic purpura
137
anti-topoisomerase antibodies
diffuse systemic scleroderma
138
anti-transglutaminase/anti-endomysial antibodies
celiac disease (diarrhea, weight loss)
139
apple core lesion on barium enema x-ray
colorectal cancer (usually left sided)
140
atypical lymphocytes
EBV
141
azurophilic peroxidase positive granular incusions in granulocytes and myeloblasts
Auer rods (AML, especially the promyelocytic [M3] type
142
Bacitracin response
sensitive is S. pyogenes resistant is S. agalactiae
143
bamboo spine on x-ray
Ankylosing spondylitis (chronic infammatory arthritis HLA-B27)
144
basophilic nuclear remnants in RBCs
howell jolly bodies (due to splenectomy or nonfunctional spleen)
145
Basophilic stippling of RBCs
Lead poisoning or sideroblastic anemia
146
Bloody or yellow tap on lumbar puncture
subarachnoid hemorrhage
147
Boot shaped heart on X-ray
tetralogy of fallot (due to RVH)
148
Branching gram positive rods with sulfur granules
actinomyces israeli. treat with penicillin
149
bronchogenic apical lung tumor on imaging
Pancoast tumor (can compress cervical symathetic chain and cause horner syndrome)
150
Brown tumor of Bone
Hyperparathyroidism or osteitis fibrosa cystica (deposited hemosiderin from hemorrhage gives brown color)
151
cardiomegaly with apical atrophy
Chagase disease (T cruzi)
152
Cellular cresencts in Bowman capsule
rapidly progressive crescentic glomerulonephritis
153
chocolate cysts of ovary
endometriosis (frequently involved both ovaries)
154
circular grouping of dark tumor cells surrounding pale neurofibrils
Homer-Wright rosettes (neuroblastoma, medulloblastoma)
155
colonies of mucoid psuedomonas in lungs
cystic fibrosis (autosomal recessive mutations in CFTR gene--> fat soluble vitamin deficiency and mucus plugs)
156
decreased AFP in amniotic fluid/maternal serum
Down syndrome or other chromosomal abnormalaties
157
degeneration of dorsal column fibers
Tabes dorsalis (tertiary syphylis), subacute combined degeneration (dorsal columns, lateral corticospinal, spinocerebellar tracts affected)
158
Delta wave on EKG, short PR interval, supraventricular tachycardia
Wolf-parkinson-white syndrome (Bundle of kent bypasses AV node)
159
depigmentation of neurons in substantia nigra
parkinson disease (basal ganglia disorder: rigidity, resting tremor, bradykinesia)
160
Desquamated epithelium casts in sputum
curshman spirals (bronchial asthma; can result in whorled mucous plugs)
161
minoxidil
direct arteriolar vasodilator;; | AE: andrigenic lopecia and severe refactory hypertension
162
Diazoxide
a potassium channel opener with hyperglycemic effects; used for emergency HTN
163
bivalirudin
directly inhibits free and clot associated thrombin;; can be used in HIT
164
clopidogrel, prasugrel, ticagrelor (reversible), ticlopidine
Inhibit platelet aggregation by irreversibly blocking ADP receptors. Prevent expression of glycoproteins IIb/IIIa on platelet surface.
165
Sjoren syndrome
Anti SSA (anti-ro), Anti ssB (anti La) are anti ribonuclear proteins. keratoconjunctivitis sicca, xerostomia, bilateral parotid enlargement and can lead to MALT lymphoma (B cell)
166
Disarrayed granulosa cells arranged around collections of eosinophilic fluid
call exner bodies (granulosa cell tumor of the ovary). can cause different presentations based on increased estrogen production in different age groups
167
dysplastic squamous cervical cells with raisinoid nuclei and hyper chromasia
Koilocytes (HPV: predisposes to cervical cancer)
168
electrical alternans (alternating amplitude on EKG)
pericardial tamponade
169
enlarged cells with intranuclear inclusion bodies
Owl eye appearance of CMV
170
Enlarged thyroid cells with ground glass nuclei with central clearing
orphan annie eyes nuclei -- papillary carcinoma of the thyroid
171
eosinophilic cytoplasmic inclusion in liver cell
mallory body (alcoholic liver disease)
172
Eosinophilic cytoplasmic inclusion neuron
Lewy body (parkinson disease and lewy body dimentia) composed of alpha synuclein
173
eosinophilic globule in liver
councilman body (viral hepatitis, yellow fever), represents hepatocyte undergoing apoptosis
174
Eosinophilic inclusion bodies in cytoplasm of hippocampal and cerebellar neurons
negri bodies of rabies.
175
extracellular amyloid deposition in gray matter of brain
senile plaques (alzheimer disease)
176
Giant B cells with bilobed nuclei with prominent inclusions (owl's eye)
Reed sternberg Cells (Hodgkin lymphoma)
177
Glomerulus like structure surrounding vessel in germ cells
Schiller duval bodies (yolk sac tumor)
178
Hair on end (crew cut appearance on X-ray
beta thalassemia, sickle cell disease (marrow expansion)
179
hCG elevated
choriocarcinoma, hydatidiform mole (occurs with and without embryo, and multiple pregnancy)
180
heart nodules granulomatous
Aschoff bodies (rheumatic fever)
181
Heterophile antibodies
infectious mononucleosis
182
hexagonal, double pointed, needle like crystals in bronchial secretions
bronchial asthma (charcot leyden crystals: eosinophilic granules)
183
high level of D dimers
DVT, PE, DIC
184
Hilar lymphadenopathy, peripheral granulomatous lesion in middle or lower lung lobes (can calcify)
Ghon complex (primary TB)
185
honey comb lung on X-ray or CT
interstitial pulmonary fibrosis
186
Hypercoagubility (leading to migrating DVTs and vasculitis)
Troissseau syndrome (adnocarcinoma of the lung or pancreas
187
Hypersegented neutrophils
Megaloblastic anemia (B12 deficiency: neurologic symptoms; folate deficiency no neurologic symptoms)
188
HTN, hypokalemia, metabolic alkolosis
primary aldosteronism (conn syndrome)
189
hypochromic microcytic anemia
iron deficiency anemia, lead poisoning, thalassemia
190
intranuclear eosinophilic droplet like bodies
cowdry type A bodies (HSV or VZV)
191
iron containing nodules in alveolar septum
ferriginous bodies (asbestosis: increases chance of mesothelioma)
192
keratin pearls on skin biopsy
squamous cell carcinoma
193
large granules in phagocytes immunodeficiency
chediak higashi disease (congenital failure of phagolysosome formation)
194
Lead pipe appearence of colon on abdominal imaging
Ulcerative colitis (loss of haustra)
195
linear appearence of IgG deposition on glomerular and alveolar basement membranes
Goodpasture syndrome
196
low serum ceruloplasmin
wilson disease (hepatolenticular degeneration)
197
lumpy bumpy appearence of glomeruli on IF
PSGN, (due to deposition of IgG, IgM, and C3)
198
Lytic punched out bone lesions on X-ray
Multiple myeloma
199
mammary gland (blue domed) cyst
Fibrocystic change of the breast
200
Monoclonal antibody spike
``` multiple myeloma (usually IgG or IgA) monoclonal gammopathy of undetermined significance (MGUS) waldenstrom (M protein= IgM) macroglobulinemia primary amyloidosis ```
201
mucin filled cell with peripheral nucleus
signet ring (gastric diffuse type carcinoma)
202
Narrowing of bowel lumen of barium X-ray
string sign (chron disease)
203
Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis
granulomatosis with poliangiitis (wegner, PR#-ANCA/c-ANCA) and goodpasture syndrome (anti-basement membrane antibodies)
204
needle shaped, negatively birefringent crystals
gout (monosodium crystals
205
nodular hyaline deposits in glomeruli
kimmestiel wilson nodules (diabetic nephropathy)
206
Novobiocin response
Sensitive: S epidermidis; resistant: S saprophyticus
207
“Nutmeg” appearance of liver
Chronic passive congestion of liver due to right heart failure or budd chiari syndrome
208
onion skin periostal reaction
ewing sarcomma
209
optochin response
s pneumoniae sensitive | s viridans resistant
210
Podocyte fusion or “effacement” on electron microscopy
Minimal change disease (child with nephrotic syndrome
211
Polished, “ivory-like” appearance of bone at cartilage erosion
Eburnation (osteoarthritis resulting in bony sclerosis
212
Protein aggregates in neurons from hyperphosphorylation of | tau protein
``` Neurofibrillary tangles (Alzheimer disease) and Pick bodies (Pick disease) ```
213
Psammoma bodies
Meningiomas, papillary thyroid carcinoma, mesothelioma, | papillary serous carcinoma of the endometrium and ovary
214
Pseudopalisading tumor cells on brain biopsy
Glioblastoma multiforme
215
Raised periosteum (creating a “Codman triangle”)
Aggressive bone lesion (eg, osteosarcoma, Ewing sarcoma, | osteomyelitis)
216
RBC casts in urine
Glomerulonephritis
217
Rectangular, crystal-like, cytoplasmic inclusions in Leydig cells
Reinke crystals (Leydig cell tumor)
218
Recurrent infections, eczema, thrombocytopenia
Wiskott-Aldrich syndrome
219
Renal epithelial casts in urine
Intrinsic renal failure (eg, ischemia or toxic injury)
220
Rhomboid crystals, ⊕ birefringent
Pseudogout (calcium pyrophosphate dihydrate crystals)
221
Rib notching (inferior surface, on x-ray)
Coarctation of the aorta
222
Ring-enhancing brain lesion on CT/MRI in AIDS
Toxoplasma gondii, CNS lymphoma
223
Sheets of medium-sized lymphoid cells with scattered pale, | tingible body–laden macrophages (“starry sky” histology
``` Burkitt lymphoma (t[8:14] c-myc activation, associated with EBV; “starry sky” made up of malignant cells) ```
224
Silver-staining spherical aggregation of tau proteins in | neurons
``` Pick bodies (Pick disease: progressive dementia, changes in personality) ```
225
“Soap bubble” in femur or tibia on x-ray
Giant cell tumor of bone (generally benign) | special because it occurs in the diaphysis
226
Spikes” on basement membrane, “dome-like” subepithelial | deposits
Membranous nephropathy (nephrotic syndrome)
227
Stacks of RBCs
Rouleaux formation (high ESR, multiple myeloma)
228
“Steeple” sign on frontal CXR
Croup (parainfluenza virus)
229
Stippled vaginal epithelial cells
“Clue cells” (Gardnerella vaginalis
230
Streptococcus bovis bacteremia
Colon cancer
231
“Tennis racket”-shaped cytoplasmic organelles (EM) in | Langerhans cells
Birbeck granules (Langerhans cell histiocytosis)
232
Thousands of polyps on colonoscopy
Familial adenomatous polyposis (autosomal dominant, | mutation of APC gene)
233
Thrombi made of white/red layers
Lines of Zahn (arterial thrombus, layers of platelets/RBCs)
234
“Thumb sign” on lateral neck x-ray
Epiglottitis (Haemophilus influenzae)
235
Thyroid-like appearance of kidney
Chronic pyelonephritis (usually due to recurrent infections)
236
“Tram-track” appearance of capillary loops of glomerular | basement membranes on light microscopy
Membranoproliferative glomerulonephritis
237
Triglyceride accumulation in liver cell vacuoles
Fatty liver disease (alcoholic or metabolic syndrome)
238
increased uric acid levels
Gout, Lesch-Nyhan syndrome, tumor lysis syndrome, loop and thiazide diuretics niacin
239
“Waxy” casts with very low urine flow
Chronic end-stage renal disease
240
WBC casts in urine
Acute pyelonephritis
241
WBCs that look “smudged”
CLL (almost always B cell)
242
“Wire loop” glomerular capillary appearance on light | microscopy
Diffuse proliferative glomerulonephritis (usually seen with | lupus
243
Yellowish CSF
Xanthochromia (eg, due to subarachnoid hemorrhage)s
244
absence seizure
ethosuximide
245
Acute gout attack
NSAIDs, colchicine, glucocorticoids
246
Acute promyelocytic leukemia (M3)
All-trans retinoic acid
247
ADHD
Methylphenidate, CBT, atomoxetine, guanfacine, clonidine
248
Alcoholism
Disulfiram, acamprosate, naltrexone, supportive care
249
Alcohol withdrawal
Long-acting benzodiazepines
250
Anorexia
Nutrition, psychotherapy, mirtazapine
251
Arrhythmia in damaged cardiac tissue
Class IB antiarrhythmic (lidocaine, mexiletine)
252
Benign prostatic hyperplasia
α1-antagonists, 5α-reductase inhibitors, PDE-5 inhibitors
253
Bipolar disorder
``` Mood stabilizers (eg, lithium, valproic acid, carbamazepine), atypical antipsychotics ```
254
Breast cancer in postmenopausal woman
Aromatase inhibitor (anastrozole)
255
Buerger disease
Smoking cessation
256
Bulimia nervosa
SSRIs
257
Candida albicans
``` Topical azoles (vaginitis); nystatin, fluconazole, caspofungin (oral/esophageal); fluconazole, caspofungin, amphotericin B ```
258
Carcinoid syndrome
Octreotide
259
Chlamydia trachomatis
Doxycycline (+ ceftriaxone for gonorrhea coinfection), erythromycin eye drops (prophylaxis in infants)
260
Chronic gout
Xanthine oxidase inhibitors (eg, allopurinol, febuxostat); | pegloticase; probenecid
261
Chronic hepatitis B or C
IFN-α (HBV and HCV); ribavirin, simeprevir, sofosbuvir | HCV
262
Chronic myelogenous leukemia
Imatinib
263
Clostridium botulinum
Antitoxin
264
Clostridium difficile
Oral metronidazole; if refractory, oral vancomycin or fidaxomicin if refactory
265
Clostridium tetani
Antitoxin
266
CMV
Ganciclovir, foscarnet, cidofovir
267
Crohn disease
Corticosteroids, infliximab, azathioprine
268
Cryptococcus neoformans
if systemic amphoteracin B and flucytosine and ketocanazole for maintenance
269
Cyclophosphamide-induced hemorrhagic cystitis
Mesna
270
Depression
SSRIs (first-line)
271
Diabetes insipidus
Desmopressin (central); hydrochlorothiazide, indomethacin, | amiloride (nephrogenic)
272
Diabetes mellitus type 1
Dietary intervention (low carbohydrate) + insulin replacement
273
Diabetes mellitus type 2
Dietary intervention, oral hypoglycemics, and insulin (if | refractory)
274
DKA
Fluids, insulin, K+
275
Drug of choice for anticoagulation during pregnancy
Heparin
276
Enterococci
Vancomycin, aminopenicillins/cephalosporins
277
Erectile dysfunction
Sildenafil, tadalafil, vardenafil
278
ER ⊕ breast cancer
Tamoxifen
279
Ethylene glycol/methanol intoxication
Fomepizole (alcohol dehydrogenase inhibitor)
280
Haemophilus influenzae (B)
Rifampin (prophylaxis)
281
Generalized anxiety disorder
SSRIs, SNRIs (first line); buspirone (second line)
282
Granulomatosis with polyangiitis (Wegener)
Cyclophosphamide, corticosteroids
283
Heparin reversal
Protamine sulfate
284
HER2/neu ⊕ breast cancer
Trastuzumab
285
Hyperaldosteronism
Spironolactone
286
Hypercholesterolemia
Statin (first-line)
287
Hypertriglyceridemia
Fibrate
288
Immediate anticoagulation
Heparin
289
Infertility
Leuprolide, GnRH (pulsatile), clomiphene
290
Influenza
Oseltamivir, zanamivir
291
Kawasaki disease
IVIG, high-dose aspirin
292
Legionella pneumophila
Macrolides (eg, azithromycin)
293
Long-term anticoagulation
Warfarin, dabigatran, rivaroxaban and apixaban
294
Malaria
Chloroquine, mefloquine, atovaquone/proguanil (for blood | schizont), primaquine (for liver hypnozoite)
295
Malignant hyperthermia
Dantrolene
296
Medical abortion
Mifepristone
297
Migraine
``` Abortive therapies (eg, sumatriptan, NSAIDs); prophylaxis (eg, propranolol, topiramate, CCBs, amitriptyline) ```
298
Multiple sclerosis
Disease-modifying therapies (eg, β-interferon, natalizumab); | for acute flares, use IV steroids
299
Mycobacterium tuberculosis
RIPE (rifampin, isoniazid, pyrazinamide, ethambutol)
300
Neisseria gonorrhoeae
Ceftriaxone (add doxycycline to cover likely concurrent | C trachomatis)
301
Neisseria meningitidis
Penicillin/ceftriaxone, rifampin (prophylaxis)
302
Neural tube defect prevention
prenatal folic acid
303
Osteomalacia/rickets
Vitamin D supplementation
304
Osteoporosis
Calcium/vitamin D supplementation (prophylaxis); bisphosphonates, PTH analogs, SERMs, calcitonin, denosumab (treatment)
305
Patent ductus arteriosus
Close with indomethacin; keep open with PGE analogs
306
Pheochromocytoma
α-antagonists (eg, phenoxybenzamine)
307
Pneumocystis jirovecii
TMP-SMX (prophylaxis and treatment in immunosuppressed | patients)
308
Prolactinoma
Cabergoline/bromocriptine (dopamine agonists)
309
Prostate adenocarcinoma/uterine fibroids
Leuprolide, GnRH (continuous
310
Prostate adenocarcinoma
flutamide
311
Pseudomonas aeruginosa
Antipseudomonal penicillins, aminoglycosides, carbapenems
312
Pulmonary arterial hypertension (idiopathic)
Sildenafil, bosentan, epoprostenol
313
Rickettsia rickettsii
Doxycycline, chloramphenicol
314
Schizophrenia (negative symptoms)
Atypical antipsychotics
315
Schizophrenia (positive symptoms)
Typical and atypical antipsychotics
316
SIADH
Fluid restriction, IV hypertonic saline, conivaptan/tolvaptan, demeclocycline
317
Sickle cell disease
Hydroxyurea (increases fetal hemoglobin
318
Sporothrix schenckii
Itraconazole, oral potassium iodide
319
Stable angina
Sublingual nitroglycerin
320
Staphylococcus aureus
MSSA: nafcillin, oxacillin, dicloxacillin (antistaphylococcal penicillins); MRSA: vancomycin, daptomycin, linezolid, ceftaroline
321
Streptococcus bovis
Penicillin prophylaxis; evaluation for colon cancer if linked to endocarditis
322
Streptococcus pneumoniae
Penicillin/cephalosporin (systemic infection, pneumonia), | vancomycin (meningitis)
323
Streptococcus pyogenes
Penicillin prophylaxis
324
Temporal arteritis
High-dose steroids
325
Tonic-clonic seizures
Levetiracetam, phenytoin, valproate, carbamazepine
326
Toxoplasma gondii
Sulfadiazine + pyrimethamine
327
Treponema pallidum
peniccilin
328
Trichomonas vaginalis
Metronidazole (patient and partner
329
Trigeminal neuralgia (tic douloureux)
Carbamazepine
330
Ulcerative colitis
5-ASA preparations (eg, mesalamine), 6-mercaptopurine, | infliximab, colectomy
331
UTI prophylaxis
TMP-SMX
332
Warfarin reversal
Fresh frozen plasma (acute), vitamin K (non-acute)
333
Actinic (solar) keratosis
Precursor to squamous cell carcinoma
334
Acute gastric ulcer associated with CNS injury
``` Cushing ulcer (􀁱 intracranial pressure stimulates vagal gastric H+ secretion) ```
335
Acute gastric ulcer associated with severe burns
``` Curling ulcer (greatly reduced plasma volume results in sloughing of gastric mucosa) ```
336
Age ranges for patient with ALL/CLL/AML/CML
ALL: child, CLL: adult > 60, AML: adult ∼ 65, CML: adult | 45–85
337
Alternating areas of transmural inflammation and normal | colon
Skip lesions (Crohn disease)
338
Aortic aneurysm, abdominal
Atherosclerosis
339
Aortic aneurysm, ascending or arch
3° syphilis (syphilitic aortitis), vasa vasorum destruction
340
Aortic aneurysm, thoracic
Marfan syndrome (idiopathic cystic medial degeneration)
341
Aortic dissection
Hypertension
342
Atrophy of the mammillary bodies
``` Wernicke encephalopathy (thiamine deficiency causing ataxia, ophthalmoplegia, and confusion) ```
343
Autosplenectomy (fibrosis and shrinkage)
Sickle cell disease (hemoglobin S)
344
``` Bacteria associated with gastritis, peptic ulcer disease, and gastric malignancies (eg, adenocarcinoma, MALToma) ```
H pylori
345
Bacterial meningitis (adults and elderly)
S pneumoniae
346
Bacterial meningitis (newborns and kids)
Group B streptococcus/E coli (newborns), | S pneumoniae/N meningitidis (kids/teens)
347
Bilateral ovarian metastases from gastric carcinoma
Krukenberg tumor (mucin-secreting signet ring cells)
348
Bleeding disorder with GpIb deficiency
Bernard-Soulier syndrome (defect in platelet adhesion to von | Willebrand factor)
349
Brain tumor (adults)
Supratentorial: metastasis, astrocytoma (including | glioblastoma multiforme), meningioma, schwannoma
350
Brain tumor (kids)
Infratentorial: medulloblastoma (cerebellum) or supratentorial: craniopharyngioma
351
Breast cancer
Invasive ductal carcinoma
352
Breast mass
Fibrocystic change, carcinoma (in postmenopausal | women)
353
Breast tumor (benign, young woman)
Fibroadenoma
354
Cardiac 1° tumor (kids)
Rhabdomyoma, often seen in tuberous sclerosis
355
Cardiac manifestation of lupus
Marantic/thrombotic endocarditis (nonbacterial)
356
Cardiac tumor (adults)
Metastasis, myxoma (90% in left atrium; “ball and valve”)
357
Cerebellar tonsillar herniation
Chiari II malformation
358
Chronic arrhythmia
Atrial fibrillation (associated with high risk of emboli)
359
Chronic atrophic gastritis (autoimmune)
Predisposition to gastric carcinoma (can also cause pernicious anemia)
360
Clear cell adenocarcinoma of the vagina
DES exposure in utero
361
Congenital adrenal hyperplasia, hypotension
21-hydroxylase deficiency
362
Congenital cardiac anomaly
VSD
363
Congenital conjugated hyperbilirubinemia (black liver)
Dubin-Johnson syndrome (inability of hepatocytes to secrete | conjugated bilirubin into bile)
364
Constrictive pericarditis
TB (developing world); idiopathic, viral illness (developed | world)
365
Coronary artery involved in thrombosis
LAD > RCA > circumflex
366
Cretinism
Iodine deficit/congenital hypothyroidism
367
Cushing syndrome
- Iatrogenic (from corticosteroid therapy) - Adrenocortical adenoma (secretes excess cortisol) - ACTH-secreting pituitary adenoma (Cushing disease) - Paraneoplastic (due to ACTH secretion by tumors
368
Cyanosis (early; less common)
Tetralogy of Fallot, transposition of great vessels, truncus | arteriosus
369
Death in CML
Blast crisis
370
Death in SLE
Lupus nephropathy
371
dementia
Alzheimer disease, multiple infarcts vascular dimentia
372
Demyelinating disease in young women
Multiple sclerosis
373
DIC
Severe sepsis, obstetric complications, cancer, burns, trauma, major surgery, acute pancreatitis, APL
374
Diverticulum in pharynx
Zenker diverticulum (diagnosed by barium swallow
375
Ejection click
Aortic stenosis
376
Esophageal cancer
Squamous cell carcinoma (worldwide); adenocarcinoma (US)
377
Food poisoning (exotoxin mediated)
S aureus, B cereus
378
Gastric cancer
Adenocarcinoma | intestinal vs diffuse type
379
Glomerulonephritis (adults)
Berger disease (IgA nephropathy)
380
Gynecologic malignancy
``` Endometrial carcinoma (most common in US); cervical carcinoma (most common worldwide) ```
381
Heart murmur, congenital
Mitral valve prolapse
382
Heart valve in bacterial endocarditis
Mitral > aortic (rheumatic fever), tricuspid (IV drug | abuse)
383
Helminth infection (US)
Enterobius vermicularis, Ascaris lumbricoides
384
Hematoma—epidural
Rupture of middle meningeal artery (trauma; lentiform | shaped)
385
Hematoma—subdural
Rupture of bridging veins (crescent shaped)
386
Hemochromatosis
Multiple blood transfusions or hereditary HFE mutation (can result in heart failure, “bronze diabetes,” and 􀁱 risk of hepatocellular carcinoma)
387
Hepatocellular carcinoma
``` Cirrhotic liver (associated with hepatitis B and C and with alcoholism) ```
388
Hereditary bleeding disorder
von Willebrand disease
389
Hereditary harmless jaundice
``` Gilbert syndrome (benign congenital unconjugated hyperbilirubinemia) ```
390
HLA-B27
Psoriatic arthritis, ankylosing spondylitis, IBD-associated | arthritis, reactive arthritis (formerly Reiter syndrome)
391
HLA-DR3
Diabetes mellitus type 1, SLE, Graves disease, Hashimoto | thyroiditis, Addison disease
392
HLA-DR4
Diabetes mellitus type 1, rheumatoid arthritis, Addison | disease
393
Holosystolic murmur
VSD, tricuspid regurgitation, mitral regurgitation
394
Hypercoagulability, endothelial damage, blood stasis
Virchow triad (increased risk of thrombosis)
395
Hypertension, 2°
Renal artery stenosis, chronic kidney disease (eg, polycystic kidney disease, diabetic nephropathy), hyperaldosteronism
396
Hypoparathyroidism
Accidental excision during thyroidectomy
397
Hypopituitarism
Pituitary adenoma (usually benign tumor), sheehan syndrome, empty sella syndrome, pituitry apoplexy..
398
Infection 2° to blood transfusion
Hepatitis C
399
Infections in chronic granulomatous disease
S aureus, E coli, Aspergillus (catalase ⊕), candida, B cepacia...
400
Intellectual disability
Down syndrome, fragile X syndrome
401
Kidney stones
- Calcium = radiopaque - Struvite (ammonium) = radiopaque (formed by urease ⊕ organisms such as Klebsiella, Proteus species, and S saprophyticus) - Uric acid = radiolucent - Cystine = radiolucent
402
Late cyanotic shunt (uncorrected left to right becomes right | to left)
``` Eisenmenger syndrome (caused by ASD, VSD, PDA; results in pulmonary hypertension/polycythemia) ```
403
Liver disease
Alcoholic cirrhosis
404
Lysosomal storage disease
Gaucher disease
405
Male cancer
Prostatic carcinoma
406
Malignancy associated with noninfectious fever
Hodgkin lymphoma
407
Malignancy (kids)
ALL, medulloblastoma (cerebellum
408
Metastases to bone
Prostate, breast > lung > thyroid
409
Metastases to brain
Lung > breast > genitourinary > melanoma > GI
410
Metastases to liver
Colon >> stomach, pancreas
411
Microcytic anemia
Iron deficiency
412
Mitochondrial inheritance
Disease occurs in both males and females, inherited through | females only
413
Mitral valve stenosis
Rheumatic heart disease
414
Mixed (UMN and LMN) motor neuron disease
Amyotrophic lateral sclerosis
415
Myocarditis
Coxsackie B
416
Nephrotic syndrome (adults)
Focal segmental glomerulosclerosis
417
Nephrotic syndrome (kids)
Minimal change disease
418
Neuron migration failure
``` Kallmann syndrome (hypogonadotropic hypogonadism and anosmia ```
419
Nosocomial pneumonia
S aureus, Pseudomonas, other enteric gram ⊝ rods
420
Obstruction of male urinary tract
BPH
421
Opening snap
Mitral stenosis
422
Opportunistic infection in AIDS
Pneumocystis jirovecii pneumonia
423
Osteomyelitis
S aureus (most common overall)
424
Osteomyelitis in sickle cell disease
Salmonella
425
Osteomyelitis with IV drug use
Pseudomonas, Candida, S aureus
426
Ovarian tumor (benign, bilateral)
Serous cystadenoma
427
Pancreatitis (acute)
Gallstones, alcohol
428
Pancreatitis (chronic)
Alcohol (adults), cystic fibrosis (kids)
429
Pelvic inflammatory disease
C trachomatis, N gonorrhoeae
430
Philadelphia chromosome t(9;22) (BCR-ABL)
CML (may sometimes be associated with ALL/AML)
431
Pituitary tumor
Prolactinoma, somatotropic adenoma
432
1° amenorrhea
Turner syndrome (45,XO or 45,XO/46,XX mosaic)
433
1° bone tumor (adults)
Multiple myeloma
434
1° hyperaldosteronism
Adenoma of adrenal cortex
435
1° hyperparathyroidism
Adenomas, hyperplasia, carcinoma
436
1° liver cancer
``` Hepatocellular carcinoma (chronic hepatitis, cirrhosis, hemochromatosis, α1-antitrypsin deficiency, Wilson disease) ```
437
Pulmonary hypertension
Idiopathic, heritable, left heart disease (eg, HF), lung disease (eg, COPD), hypoxemic vasoconstriction (eg, OSA), thromboembolic (eg, PE)
438
Recurrent inflammation/thrombosis of small/medium vessels | in extremities
Buerger disease (strongly associated with tobacco)
439
Refractory peptic ulcers and high gastrin levels
Zollinger-Ellison syndrome (gastrinoma of duodenum or | pancreas), associated with MEN1
440
Renal tumor
Renal cell carcinoma: associated with von Hippel-Lindau and cigarette smoking; paraneoplastic syndromes (EPO, renin, PTHrP, ACTH)
441
Right heart failure due to a pulmonary cause
Cor pulmonale
442
S3 heart sound
increased ventricular filling pressure (eg, mitral regurgitation, HF), common in dilated ventricles
443
S4 heart sound
Stiff/hypertrophic ventricle (aortic stenosis, restrictive | cardiomyopathy)
444
2° hyperparathyroidism
Hypocalcemia of chronic kidney disease
445
Sexually transmitted disease
C trachomatis (usually coinfected with N gonorrhoeae)
446
SIADH
Small cell carcinoma of the lung
447
Site of diverticula
Sigmoid colon
448
Sites of atherosclerosis
Abdominal aorta > coronary artery > popliteal artery | > carotid artery
449
t(14;18)
``` Follicular lymphomas (BCL-2 activation, anti-apoptotic oncogene) ```
450
t(8;14)
``` Burkitt lymphoma (c-myc fusion, transcription factor oncogene) ```
451
t(9;22)
Philadelphia chromosome, CML (BCR-ABL activation, | tyrosine kinase oncogene)
452
Temporal arteritis
Risk of ipsilateral blindness due to occlusion of ophthalmic | artery; polymyalgia rheumatica
453
Testicular tumor
Seminoma (malignant, radiosensitive), increased placental ALP
454
Thyroid cancer
Papillary carcinoma (childhood irradiation)
455
Tumor in women
Leiomyoma (fibroids)(estrogen dependent, not precancerous)
456
Tumor of infancy
``` Strawberry hemangioma (grows rapidly and regresses spontaneously by childhood) ```
457
Tumor of the adrenal medulla (adults)
Pheochromocytoma (usually benign)
458
Tumor of the adrenal medulla (kids)
Neuroblastoma (malignant)
459
Type of Hodgkin lymphoma
``` Nodular sclerosing (vs mixed cellularity, lymphocytic predominance, lymphocytic depletion) ```
460
Type of non-Hodgkin lymphoma
Diffuse large B-cell lymphoma
461
UTI
E coli, Staphylococcus saprophyticus (young women)
462
Vertebral compression fracture
Osteoporosis (type I: postmenopausal woman; type II: elderly | man or woman)
463
Viral encephalitis affecting temporal lobe
HSV-1
464
Vitamin deficiency (US)
Folate (pregnant women are at high risk; body stores only 3- to 4-month supply; prevents neural tube defects)
465
congenital rubella
classic triad of eye (cataract), ear (deadness), and congenital heart disease (PDA, pulmonary stenosis. blueberry muffin rash
466
congenital CMV
hearing loss, seizures, petechial rash(blueberry muffin), periventricular calcifications.
467
congenital syphilis
often results in stillbirth, hydrops fetalis, if child survives presents with facial (notched teeth, saddle nose, short maxilla), saber shins, CN VIII deafness
468
sofosbuvir vs simepevir
both used for HCV. inhibits RNA dependent RNA Pol acting as chain terminator (NS5B) vs HCV protease inhibitor
469
Infant of a diabetic mother
transposition of the great vessels, caudal regression syndrome
470
williams syndome
``` microdeletion of long arm of chromosome 7. elfin facies hypercalcemia intellectual disability extreme friendliness to strangers supravalvular aortic stenosis ```
471
restrictive/infiltrative cardiomyopathy
``` sarcoidosis, amyloidosis, postradition fribrosis endocardial fibroelastosis (thick fibroelastic tissue in endocardium of young children) Loffler syndrome (endomyocardial fibrosis with a prominent eosinophilic infiltrate) ``` diastolic dysfunction ensues. can have a low voltage ECG despite thick myocardium
472
Hypertrophic cardiomyopathy
hereditary cases involve beta-myosin heavy chain... can be associated with friedrich ataxia.
473
golden cytoplasmic granules in macrophages that turn blue with prussian blue staining
hemosiderin laden macrophages
474
IVDU with sudden pulmonary symptoms
bacterial endocarditis septic emboli from tricuspid valve into lung
475
Pulmonary capillary wedge pressure in cardiogenic shock due to left heart failure vs right
in left PCWP is increased in right PCWP is decreased
476
dystrophic calcification
considered a hallmark of cell injury and death occuring in all types of necrosis in the setting of normal calcium lvls
477
cytokine involved in Giant cell (temporal) arteritis
IL-6 appears to closely correlate with the severity of the disease
478
tocilizumab
IL-6 monoclonal antibody
479
polyarteritis nodosa
typically involves renal and visceral vessels, not pul arteries immune complex mediated transmural inflammation of the arterial wall with fibrinoid necrosis different stages of inflammation may coexist in different vessels.
480
henoch schonlein purpura
``` most common childhood systemic vasculitis. often follows URI. triad: skin-palpable purpura on buttocks/legs arthralgias GI:abdominal pain ```
481
tesamorelin
GHRH analog used to treat HIV associated lipodistrophy
482
fronto temporal dementia
early changes in personality and behavior or aphasia may have associated movement disorders frontal temporal lobe degeneration inclusions of hyperphosphorylated tau or ubiquitinated TDP-43
483
lewy body dementia
initially dementia and visual hallucinations followed by parkinsonian features intracellular lewy bodies
484
osmotic demyelination syndrome
massive axonal demyelination in pontine white matter. secondary to osmotic changes--> overly rapid correction of hyponatremia
485
cerebral edema
correction of hypernatremia too quickly
486
agents used to treat MS
glatiramer- mix of 4 amino acids which are antigenically similar to myelin basic protein natalizumab- antibody against the alpha-4 subunit of intergrin molecules. limits adhesion and transmigration IV corticosteroids. baclofen-Gaba b receptor agonist for spasticity.
487
acute disseminated (postinfectious) encephalomyelitis
multifocal periventricular inflammation and demyelination after infection or vaccination. presents with rapidly progressive multifocal neurologic symptoms, AMS.
488
Charcot marie tooth disease (heriditary motor and sensory neuropathy)
defective production in the proteins involved in the structure and function of peripheral nerves or the myelin sheath. autosomal dominant associated with foot deformities (pes cavus), lower extremity weakness and sensory deficits.
489
natalizumab and rituximmab increase risk of
Progressive multifocal leukoencephalopathy
490
adrenoleukodystrophy
X-linked genetic disorder typically affecting males. disrupts metabolism of very long fatty acids--> excessive buildup in nervous system adrenal glands testes. progressive disease that can lead to longterm coma/death and adrenal crisis
491
tuberous sclerosis
``` harmatomas of in CNS and skin angiofibromas mitral regurg ash leaf spots rhabdomyoma autosomal dominant mental retardation renal angiolipomas seizures and shagreen patches increased incidence of subependymal astrocytomas and ungual fibromas. ```
492
neurofibromin
negative regulator of RAS. mutated in NF-1 | chromosome 17
493
von hippel lindau disease
hemangioblastomas angiomatosis bilateral RCCs pheochromocytomas.
494
middle cerebral artery
contralateral paralysis and sensory loss- face and upper limb aphasia if in dominant (usually left) hemisphere. hemineglect if in non dominant.
495
anterior cerebral artery
contralateral sensory loss lower limb. also most common location for a berry aneurysm in the CNS is at intersection with Acomm can lead to bitemporal hemianopsia
496
lenticulostriate artery
contralateral paralysis and or sensory loss- face and body. absence of cortical signs common location of lacunar infarcts, secondary to unmanaged HTN.
497
anterior spinal artery
contralateral paralysis of upper and lower limbs. decreased contralateral proprioception ipsilateral hypoglossal dysfunction (tongue deviates ipsilaterally) medial medullary syndrome
498
Posterior inferior cerebellar artery
vomiting, vertigo nystagmus (vestibular nuclei) decreased pain and temperature sensation from ipsilateral face and contralateral body dysphagia, hoarseness and decreased gag reflex ipsilateral horner syndrome ataxia dysmetria nucleus ambiguus effects are specific to PICA lesions.
499
anterior inferior cerebellar artery
vomiting vertigo nystagmus paralysis of face, decreased lacrimation, salivation and decreased taste from anterior 2/3s of mouth ipsilateral decrease in pain and temp of the face, contralateral decreased pain and temp of the body ataxia dysmetria facial droop means AICAs pooped
500
basillar artery
locked in syndrome preserved conciousness, vertical eye movement, blinking, quadraplegia, loss of voluntary facial, mouth, and tongue movements. reticular formation is spared
501
central post stroke pain syndrome
neuropathic pain due to thalamic lesions. initial paresthesias followed in weeks to months by allodynia.
502
lacunar infarctions
result of small vessel occlusion (due to lipohyalinosis and microatheroma formation) in the penetrating vessels supplying the deep brain structures.
503
neonatal interventricular hemorrhage
usually occurs in the fragile germinal matrix
504
prevent vasospasm 4-10 after SAH with
nimodipine
505
red neurons
12-48 hours after ischemic event
506
necrosis + neutrophils in brain matter
24-72 hrs post ischemic event
507
macrophages in brain post ichemic event
3-6 days
508
reactive gliosis + vascular proliferation timeline
1-2 weeks. closer to 2 weeks.
509
risk factors for idiopathic intracranial HTN (psuedotumor cerebri)
woman of childbearing age, Vitamin A excess, danazol and tetracycline
510
Liposarcoma
soft tissue malignancy. contain numerous lipoblasts, which are cells that produce non membrane bound cytoplasmic lipid. this well demarcated lipid shifts within the cell causing nuclear indentation and scalloping of the nuclear membrane.
511
Meckel diverticulum
derived from the omphalomesenteric (vitelline) duct which connects the midgut to yolk sac most common congenital abnormality of the small intestine. heterotopic gastric mucosa or pancreatic tissue may be seen . anemia can occur due to brisk but painless lower GI bleeding. complications such as volvulus, intussusception or obstruction can occur which would be painful
512
volvulus
presents with billious emesus, abdominal pain, and bloody stools. increased incidence in people with malrotation
513
intussusception
the proximal portion of the bowel telescopes into the distal portion. may present with severe intermittent abdominal pain, vomiting, bloody stools and palpable abdominal mass.
514
lynch syndrome
Genes: MSH2, MLH1, MSH6, and PMS2 | associated neoplasms: colorectal cancer, endometrial cancer, ovarian cancer
515
Familial adenomatous polyposis
gene: APC | associated neoplasms: colorectal cancer, desmoids and osteomas, brain tumors
516
Li fraumeni syndrome
``` Sarcomas breast cancer brain tumors adrenocortical carcinoma leukemia ```
517
Calcineurin inhibitors
tacrolimus and cyclosporine. cause nephrotoxicity that is dose related and manifests as a rise in serum BUN and creatinine levels as well as increased BP the above is thought to be a result of afferent and efferent arteriolar vasoconstriction leading to systemic HTN. and long term use can also lead to obliterative vasculopathy, tubular vacuolization and glomerular scarring
518
Tamm-horsfall glycoprotein
exclusively secreted by renal tubular epithelial cells of the ascending limb of the loop of henle.
519
foam stability test
index evaluates surfactant functionality. or lecithin:sphingomyelin ratio >2
520
Marfan syndrome
autosomal dominant normal intellect aortic root dilation upward lens dislocation
521
homocystinuria
``` Autosomal recessive intellectual disability thrombosis downward lens dislocation megaloblastic anemia fair complexion ```
522
heparin vs warfarin use in pregnancy
heparin is more water soluble.
523
Bowel epithelial stem cells are located in
crypts of lieberkuhn.
524
spherical nodues within the confines of sibrous septa in liver cirrhosis
regenerative spherical nodules of proliferating hepatocytes.
525
stellate (ito) cells
store vitamin A and support the sinusoids. can differentiate into a myofibroblast upon injiry to the liver and plays a large role in the production of fibrosis in cirrhosis
526
cystic hygromas
commonly associated with chromosomal aneuploidy. manifest as soft, compressible masses that transilluminate. they are most commonly found on the head and neck and typically on the left side.
527
Musculoskeletal causes of lower back pain.
Mechanical (muscel strain)-normal neuro exam and paraspinal tenderness radiculopathy- radiation below the knee, positive straight leg raise, neuro deficits. spinal stenosis- psuedoclaudication relieved by leaning forward.(old man leaning on shopping cart or stroller) compression fracture- osteoporosis
528
Malignant causes of lower back pain
metastatic cancer - age > 50 worse at night. not relieved with stress
529
infectious causes of lower back pain
osteomyelitis, discitis, abscess- recent infection or IVDU | fever spine tenderness
530
tardive kinesis
commonly associated with long term use of first generation antipsychotic meds. involuntary movements include rhythmic movements of the face, lips, and tongue. mechanism is believed to be upregulation of postsynaptic dopamine receptors due to longterm blockade leading to supersensitivity.
531
saddle pulmonary embolus central venous pressure, cardiac output and SVR
increase in CVP, decrease in CO and increase SVR
532
xerosis
itchy rash and dry cracked skin.common in older patients during the winter months when indoor heaters lower the relative humidity of the ambient air. these patients usually have defects in the stratum corneum permeability barrier.
533
Cough syncope
typically occurs in overweight overweight male patients with COPD. increased intrathoracic pressure during a coughing episode decreases venous return to the heart thereby transiently decreasing cardiac outputand cerebral perfusion.
534
composition of fleshy skin nodules in NF-1 aka neurofibromas
schwann cells. | the nodules are known as neuro fibromas
535
primary ovarian insufficiency
amenorrhea in women age <40 with eevated gonadotropins (FSH) and low estrogen levels. the pathophysiology is likely inadequate supply of ovarian follicles or a premature depletion of these follicles. --apoptosis
536
agglutination inhibition reactions
competition between soluble antigens and particle affixed antigens for antibody binding sites.
537
complications of stent placement
scute stent thrombosis and restonosis due to intimal hyperplasia. drug coated stents have reduced both of these complications. paclitaxel for intimal hyperplasia.
538
Ornithine transcarbamyolase deficiency
result in accumalation of carbomyl phosphate which is converted to orotic acid by the pyrimidine biosynthetic pathway and congenital hyperammonemia
539
Carbamoyl phosphate I synthetase deficiency
severe hyperammonemia and neurological damage.
540
endocrine hormones that increase cAMP
FLAT ChAMP: FSH, LH, ACTH, TSH, CRH, hCH, ADH(V2 receptor), MSH, PTH, calcitonin, GHRH
541
endocrine hormones that increase IP3
GOAT HAG: | GnRH, oxytocin, ADH (V1), TRH, Histamine (H1), angiotensin II, Gastrin
542
endocrine hormones that activate nonreceptor tyrosine kinase
PIGGLET | prolactin, immunomodulators (cytokines), GH, G-CSF, erythropoeitin, and thrombopoetin
543
primary vs secondary/tertiary adrenal insufficiency cortisol and ACTH levels
primary decreased cortisol and increased ACTH | secondary decreased cortisol and ACTH.
544
primary adrenal insufficiency
hypotension (hyponatremic volume contraction), hyperkalemia, metabolic acidosis skin and mucosal hyperpigmentation .
545
secondary adrenal insufficiency
decreased pituitary ACTH production, no skin/mucousal hyperpigmentation, no hyperkalemia (aldosterone synthesis preserved).
546
tertiary adrenal insufficiency
seen in patients with chronic exogenous steroid use; precipitated by abrupt withdrawal. aldosterone synthesis unaffected.
547
hyperaldosteronism clinical features
HTN, decreased or normal K+, metabolic alkalosis, (no edema due to aldosterone escape mechanism).
548
neuroblastoma
most common tumor of the adrenal medulla in children originates from neural crest cells. presents as abdominal distention and a firm, irregular mass that can cross the midline can present with opsoclonus myoclonus syndrome increase HVA and VMA in urine, homer wright rossettes bombesin and NSE positive. associated with over expression of N-myc.
549
riedel thyroiditis
thyroid replaced by fibrous tissue with inflammatory infiltrate. fibrosis may extend into local structures mimicking anaplastic carcinoma. 1/3 are hypothyroid. considered a manifestation of IgG4 related systemic disease (autoimmune pancreatitis, retroperitoneal fibrosis, nininfectious aortitis) fixed hard painles goiter
550
infiltrative opthalmpathy
edema and infiltration of lymocytes into the extraocular muscles and connective tissue. retroorbial fibroblaasts thatn stimulated by cytokines
551
Jod basedow phenomenom
thyrotoxicosis if a patient with iodine deficiency becomes iodine replete
552
associations of thyroid cancers: papillary follicular medullary
papillary- orphan annie eyes and increased risk with RET and BRAF mutations. follicular- uniform follicles. hematogenous spread common Ras mutations medullary- sheets of cells in amyloid stroma. MEN2a and 2b.
553
psuedohypoparathyroidism
albright hereditary osteodystrophy. unresponsive kidney to PTH. defective Gs protein alpha subunit short stature and sortened 4th and 5th digits.
554
brown bown tumor in osteitis fibrosa cystica consists of
osteoclasts and deposited hemosiderin from hemorrhages.
555
glucagonoma
tumor of pancreatic alpha cells. presents with dermatitis (necrolytic migratory erythema), diabetes, DVT, declining weight, depression
556
carcinoid syndrome
neuroendocrine cells. prominent rossettes. secrete serotonin. if mets to liver results in diarrhea, cutaneous flushing, asthmatic wheezing, right sided valvular heart disease (tricuspid regurg, pulm stenosis) increased 5-HIAA in urine, niacin deficiency
557
alpha 1 receptors
act through Gq. increase vascular smooth muscle contraction increase pupillary dilator muscle contraction (mydriasis), increase intestinal and bladder sphincter muscle contraction.
558
alpha 2
``` act through Gi. decrease sympathetic (adrenergic) outflow decrease insulin release decrease lipolysis increase platelet aggregation decrease acqueous humor production ```
559
beta 1
``` act through Gs increase heart rate increase contractility increase renin release increase lipolysis ```
560
beta 2
``` act through Gs vasodilation bronchodilation increase lipolysis increase insulin release decrease uterine tone (tocolysis) ciliary muscle relaxation increase aqueous humor production ```
561
beta 3
acts through Gs increase lipolysis. increase thermogenesis in skeletal muscle.
562
M1
Gq | CNS, enteric Nervous system
563
M2
Gi | decrease heart rate and contractility of atria.
564
M3
Gq increase exocrine gland secretions (lacrimal, sweat, salivary, gastric acid), increase gut peristalsis, increase bladder contraction, bronchoconstriction, increase pupillary sphincter muscle contraction (miosis), ciliary muscle contraction.
565
D1
Gs | relaxes renal vascular smooth muscle
566
D2
Gi | modulates transmitter release, especially in brain
567
H1
Gq increases nasal and bronchial mucus production increases vascular permeability
568
H2
Gs | increases gastric acid secretion
569
V1
Gq | increases vascular smooth muscle contraction
570
V2
increases h20 permeability and reabsorption in collecting tubules of kidney (V2 is found in the 2 kidneys).
571
heterochromatin
``` condensed. appears darker in EM, transcriptionally inactive sterically in accesible barr bodies. heterochromatin=highly condensed ```
572
euchromatin
less condensed. transcriptionally active
573
Telomerase
reverse transcriptase (RNA dependent) tha to the 3'end. it lengthens telemores by adding TTAGGG
574
purines vs pyrimidines
purines 2 rings. pyrimidine 2 rings. deamination of cytosine makes uracil thymidine has a methyl
575
disrupt pyrimidine synthesis
leflunomide, MTX, trimethoprim, pyrimethamine and 5-Fu
576
dusrupt purine synthesis
6-MP, mycophenolate and ribavirin
577
stop codons
UGA UAG UAA
578
start codon
AUG. is methionine.
579
nucleotide excision repair.
repair pyrimidine dimers. endonuclease release oligonucleotides and DNA polymerase and ligase fill and reseal the gap predominantly occurs in G1
580
base excision repair
important in repair of spontaneous/toxic deamination base specific glycosylase removes altered base. AP endonucleus and lyase cleave 5' and 3' sides respectively. DNA pol beta fills in gap and DNA ligase seals it occurs throughout cell cycle.
581
Mismatch match repair
occurs predominantlyin G2
582
RNA pol I RNA pol II RNA pol III
rRNA mRNA tRNA and 5s rRNA.
583
alpha amantin
found in amnita phalloides (death cap mushrooms). inhibits RNA pol II. causes severe hepatotoxicity if ingested.
584
Actinomycin D
inhibits RNA pol in both prokaryotes and eukaryotes
585
anti-U1 RNP antibodies
mixed connective tissue disease
586
intron splice sites
5' GU 3'AG
587
microRNAs
small, noncoding RNA molecules that post transcriptionally regulate protein expression. introns can contain miRNAs
588
energy use in tRNA charging vs translocation in protein synthesis
ATP in tRNA charging and GTP in protein translation
589
what catalyzes the peptide bond in the ribosome between amino acids
ribozyme
590
shortest phase of the cell cycle
M phase.
591
signal recognition particle
abundant cytosolic ribonucleoprotein that traffics from the ribosome to the RER. absent or dysfunctional SRP--> proteins accumalate in the cytosol.
592
microfilaments
muscle contraction cytokinesis | actin microvilli
593
intermediate filaments
maintain cell structure | i.e vimentin, desmin, cytokeratin, lamins, glial fibrillary acid proteins, neurofilaments.
594
microtubules
movement. cell division.
595
oubain
inhibits binding to K+ site on Na+/K+ atpase
596
type 1 collagen
bone, skin, tendon, dentin, cornea, late wound repair. | decreased production in osteogenesis imperfecta type I
597
type II collagen
cartilage, vitreous body, nucleus pulpus.
598
type III collagen
reticulin- skin, blood vessels, uterus, fetal tissue, granulation tissue deficient in the uncommon vascular type ehlors danlos
599
type Iv collagen
basement membrane, basal lamina, and lens defective in alport syndrome autoantibodies in good pasture.
600
requirements and defects in the hydroxylation, glycosylation and cross linking of collagen
hydroxylation- requires vitamin C (deficiency leads to scurvy) glycosylation- formation of procollagen via hydrogen and disulfide bonds (triple helix of 3 collagen alpha chains) problems forming triple helix osteogensis imperfecta. cross linking- reinforcement of many staggered tropocollagen molecules by covalent lysine-hydroxylysine cross linkage. (by copper containing lysyl oxidase) problems lead to ehlers danlos and menkes disease
601
blue sclarae, hearing loss and multiple fractures.
osteogensis imperfecta COLA1 and COLA2 autosomal dominant most common. bone matrix formation issue
602
pleiotropy
one gene contributes to multiple phenotypic effects.
603
uniparenty disomy: hetero disomy vs isodisomy
hetero implies miosis one defect | iso meiosis II
604
myotonia, muscle wasting, cataracts, frontal balding, testicular atrophy and arrhythmias
autosomal dominant myotonic type 1 CTG repeat
605
trinucleotide repeast expansion diseases
fragile X CGG (methylation leads to decreased expression; X linked dominant) huntington chromosome 4 CAG repeats myotonc type 1 CTG repeats friedrichs ataxia GAA
606
rate limiting enzyme of fatty acid synthesis
acetyl coA carboxylase regulators include insulin and citrate positively glucagon and palmitoyl coa negatively
607
rate limiting enzyme of de novo purne synthesis
glutamine phosphoribosylpyrophospahte | negative regulators are AMP, IMP and GMP.
608
rate limiting enzyme of denovo pyrimidine synthesis
carbamoyl phosphate synthetase II. | regulators ATP and PRPP positively and UTP negatively.
609
dysplastic nevus syndrome
manifests w numerous dysplastic nevi in a young person who has a family history of melanoma in more than 3 first degree relatives. this syndrome is associated w/ mutations in the CDKN2A gene on chromosome 9p21
610
fetal alcohol syndrome leads to congenital defects by
failure of cell migration
611
``` monozygotic identical twins cleavage timeline: 0-4 days 4-8 days 8-12 days >13 days ```
dichorionic diamniotic monochorionic diaminiotic monochorionic monoamniotic monochorionic monoamniotic conjoined.
612
Syncytiotrophoblast
synthesizes hormones | lacks MHC-I expression-decreases chance of attack by maternal immune system.
613
single umbilical artery
associated with congenital and chromosomal anomalies.
614
umbilical arteries and veins are derived from
allantois.
615
urachus
is derived from the yolk sac. isa connection between the bladder and the umbilicus if patent can lead to pee coming out the umbilicus. partial failure--> fluid filled cavity lined with urothelium can lead to infection and adnocarcinoma.
616
4th aortic arch derivative
on left aortic arch. on right proximal part of subclavian artery.
617
6th aortic arch derivative
proximal part of pulmonary arteries and ductus arteriosus.
618
branchial clefts/grooves.
dervied from ectoderm. 1st cleft develops into external auditory meatus. 2nd-4th clefts form temporary vervical sinuses, which are obliterated by proliferation of 2nd arch mesenchyme. if 2-4 persis leads to a branchial cleft cysts on lateral neck anterior to SCM.
619
pierre robin sequence
micrognathia, glossoptosis, cleft palate, airway obstruction.
620
Treacher collins syndrome
neural crest dysfunction --> mandibular hypoplasia, facial abnormalities.
621
brachial arch derivatives
``` refer to page 569 chew smile smile stylishly swallow simply swallow speak ```
622
3rd branchial pouch
dorsal wings--> inferior parathyroids | ventral wings--> thymus
623
4th branchial pouch
dorsal wings--> superior parathyroids | ventral wings--> ultimobranchial body--> parafollicular (C) cells of thyroid.
624
default development of an embryo
mesonephric duct degenerates and paramesonephric duct develops.
625
mullerian inhibitory factor
secreted by serotoli cells and suppresses the development of the paramesonephric duct
626
paramesonephric duct
develops into female internal structures-fallopian tubes, uterus, upper portion of vagina.
627
primary amenorrhea in females with fully developed secondary sexual characteristics
mullerian agenesis (mayer-rokitansky-kuster-hauser syndrome)
628
mesonephric duct
develops into SEED--> seminal vesicle, epididymis, ejaculatory duct, ductus deferens
629
no serotoli cells or lack of mullerian inhibitory factor?
develop both male and female internal genitalia and male external genitalia.
630
genital turbercle
glans penis and corpus cavernosum and spongiosum in males. | glans clitorus and vestibular bulbs in females
631
urogenital sinus
bulbouretheral glands of cowper and prostate gland in males | and greater vestibular glands and urethral and paraurethral glands in females.
632
urogenital folds
ventral shaft of penis in males | labia minora in females
633
hypo spadia vs epi spadia
hypo- failure of urethral folds to fuse | epi faulty positioning of genital tubercle.
634
gubernaculum
band of fibrous tissue in males anchors testes within scrotum in females it is the ovarian ligament + the round ligament of uterus
635
body of uterus/cervix and superior bladder drain to
external iliac nodes
636
glans penis drains to
deep inguinal nodes
637
infundibulopelvic ligament (suspensory ligament of the ovary)
connects ovaries to the lateral pelvic wall | contains the ovarian vessels
638
cardinal ligament
connects the cervix to side wall of pelvis contains the uterine vessels. ureter at risk of injury during ligation of uterine vessels in hysterectomy
639
round ligament of the uterus
uterus fundus to the labia majora. travels through the round inguinal canal. above the artery of sampson.
640
ovarian ligament
medial pole of ovary to lateral uterus.
641
pelvic fracture
membranous urethra prone to injury | urine to leak into retropubic space
642
perineal straddle injury
bulbar and penile urethra at risk | cause urine to leak beneath deep fascia of buck. if torn urine leaks into superficial perineal space
643
male sex response
erection - parasympathetic emission- sympathetic (hypogastric nerve) ejaculation-(pudendal nerve) the internal urethral sphincter contracts during ejaculation to prevent retrograde flow of semen from the urethra to the bladder.
644
serotoli secretion of androgen binding protein
maintains local levels of testosterone.
645
estrogen
increases transport proteins, SHBG, increases HDL, decreases LDL.
646
oogensis arrest ohases
arrested in meiosis I prophase I until ovulation | arrested in meiosis II metaphase II until fertilization.
647
low birth weight complications
increased risk of SIDS complications include respiratory distress syndrome, necrotizing enterocolitis, interventricular hemorrhage, and persistant fetal circulation
648
menopause
diagnosed by amenorrea for atleast 12 months. increased FSH causes hot flashes, atrophy of the vagina, osteoporosis, coronary artery disease, sleep disturbances
649
spermiogenesis
spermatids loss of cytoplasmic contents and gain of acrosomal caps.
650
severe acne, very tall, learning disabilities, autism spectrum disorders.
xyy
651
Kallman syndrome
failure to complete puberty; defective migration of GnRH cells and formation of olfactory bulb. anosmia. decreased GnRH, FSH, Lh, testosterone. color blindness.
652
vasa previa triad
membrane rupture, painless vaginal bleeding, and fetal bradycardia.
653
congenital torticollis
typically develops by 2-4 weeks of age caused by birth trauma or mal position of the head in utero may include hip dysplasia, metatarsus aductus, and talepes equinovarus
654
congenital torticollis
typically develops by 2-4 weeks of age caused by birth trauma or mal position of the head in utero may include hip dysplasia, metatarsus aductus, and talepes equinovarus
655
phsophofructokinase
rate limiting step of glycolysis AMP and fructose-2,6-bisphosphate postive regulators ATP and citrate negative regulators.
656
pyruvate kinase
PEP--> to pyruvate fructose-1,6-BP postive regulator ATP and alanine negative regulators
657
neurologic defects, lactic acidosis, increase serum alanine starting infancy
pyruvate dehrodrogenase deficiency X-Linked. increase intake of ketogenic nutrients lysine and leucine.
658
pyruvate carboxylase
in mitochondria. pyruvate to oxaloacetate requires biotin and ATP. activated by acetyl CoA
659
PEP carboxykinase
in cytosol. oxaloacetate to PEP. requires GTP
660
propionyl coa
generated from odd chain fatty acids and can enter TCA as succinyl CoA, undergo gluconeogenesis, and serve as a glucose source.
661
arginine and histidine are required during
periods of growth
662
treatment of hyperammonemia
lactulose to acidify the GI tract and trap NH4+ for excretion. rifaximin to decrease colonic ammoniagenic bacteria benzoate, phenylacetate, or phenylbututyrate to bund NH4+ and lead to excretion
663
glycine derivatives
-->porphyrin-->heme
664
arginine derivatives
creatinine, urea, and nitric oxide
665
maple syrup urine disease
blocked degradation of branched amino acids (Isoleucine, Leucine, Valine) due to decreased branched chain alpha ketoacid dehydrogenase piss smells like burnt sugar treatment restriction on branched amino acids and thiamine supplementation.
666
episodic peripheral neuropathy, angiokeratomas, hypohidrosis. late progressive renal failure and cardiovascular problems
fabry disease XR deficient alpha galactosidase accumulation of ceramide trihexoside (globotriacyl ceramide)
667
progressive neurodegeneration, hepatpsplenomegaly, foam cells and cherry spot on macula
niemann pick disease AR deficient sphingomyelinase accumulation of sphingomyelin
668
progressive neurodegeneration, developmental delay, cherry spot on macula, lysosomes w onion skin
tay-sachs disease AR hexosamindase A deficiency GM2-ganglioside accumalation
669
peripheral neuropathy, developmental delay, optic atrophy, globoid cells.
Krabbe disease AR deficiency of galactocerebrosidase galactocerebroside and psychosine accumalation
670
hurler syndrome
developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly. deficient alpha L iduronidase accumalation of heparin sulfate and dermatan sulfate
671
systemic primary carnitine deficiency
inherited defect in transport of LCFAs into mitochondra | causes hypotonia, weakness and hypoketotic hypoglycemia.
672
carnitine acetyl transferase
inhibited by malonyl CoA
673
medium chain acyl CoA dehydrogenase deficiency
autosomal recessive accumalation of 8-10 carbon fatty acyl carnitines in the blood and hypoketotic hypoglycemia. present in early infancy as lethargy, seizures, coma, and liver dysfunction. acetyl coA dehydrogenase.
674
triad of coombs (-) hemolytic anemia, pancytopenia, and venous thrombosis
``` paroxysmal nocturnal hemoglobinuria. treatment ecilizumab (terminal complement inhibitor) ```
675
Diamond blackfan anemia
rapid onset anemia within 1st year of life due to intrinsic defect in erythroid progenitor cells short stature, cranio facial abnormalaties, and upper extremity malformations (triphalangeal thumbs)
676
achondroplasia
``` FGFR3 mutation (constitutive activation which inhibits chondrocyte proliferation). autosomal dominant problem with endochondrial ossification leading to shortened limbs and normal sized head. ```
677
thickened dense bones prone to fracture.
failure of normal bone resorption due to defective osteoclasts--> thickened dense bones that are prone to fracture. bone fills marrow space --> pancytopenia, extramedullary hematopoeisis carbonic anyhydrase II mutations can be seen.--> impair ability of osteoclast to generate acidic environment necessary for bone resorption cranial nerve impingement and palsies as a result of narrowed foramina. bone marrow transplant potentially curative
678
Pagets disease of bone
caused by increase osteoclastic activity followed by increased osteoblastic activity that forms poor quality bone. serum calcium, phosphorus and PTH lvls normal ALP increased. mosaic pattern of woven and lamellar bone. increased blood flow from increased arteriovenous shunt formation may cause high output cardiac failure increased risk of osteogenic sarcoma. increase hat size hearing loss
679
osetonecrosis causes
corticosteroids, alcoholism, sickle cell disease, Trauma, the Bends (caisson/decompression disease), Legg-Calve perthes disease, Gaucher disease, slipped capital femoral epiphysis.
680
osteoma
benign tumor of bone aries on surface of facial bones. associated with gardner syndrome (FAP+osteoma)
681
osteoid osteoma
benign tumor of osteoblasts (produce osteoid) surrounded by rim of reactive bone ; bone pain that resolves with aspirin. bony mass less than 2 CM on imaging
682
osteoblastoma
similar to an osteoid osteoma but on vertebrae and larger than 2 CM and does not respond to aspirin.
683
Chondroma
benign tumor of cartilage. arises in medulla of small bones of hands and feet. olliers syndrome and maffuci's syndrome.
684
lichen sclerosis
thinning of epidermis and fibrosis of dermis. leukoplakia with parchment like vulvar skin. most commonly seen in postmenopausal women. associated with slightly increased risk of SCC
685
risk factors for CIN
multiple sexual partners, smoking, starting sexual intercourse at a young age, HIV infection (immunodeficiency)
686
PCOS
hyperinsulenemia and or insulin resistance. increased LH:FSH ratio anovulation enlarged bilateral cystic ovaries amenorrhea/oligorrhea, hirsutism acne, decreased fertility. associated with obesity increased risk of endometrial cancer.
687
follicular cyst
distention of unruptured graafian follicle. may be associated with hyperestrogenism, endometrial hyperplasi. most common ovarian mass in young women.
688
ovarian neoplasm risk factors
advanced age, infertility, endometriosis, PCOS, genetic predisposition.
689
factors decreasing risk of ovarian neoplasms
previous pregnancy, history of breast feeding, OCPs, tubal ligation.
690
mature cystic teratoma
Germ cell tumor, most common ovarian tumor in females (10-30YO) cystic mass containing elements of all 3 germ layers present with pain secondary to ovarian enlargement or torsion. monodermal form struma ovarii (presents with hyperthyroidism). somatic malignancy-SCC
691
ovarian tumor looks like bladder
Brenner tumor
692
ovarian fibroma, ascites, hydrothorax. pulling sensation in groin
meigs syndrome | variant of a ovarian fibroma- bundles of spindle shaped fibroblasts
693
ovarian fibroma, ascites, hydrothorax. pulling sensation in groin
meigs syndrome | variant of a ovarian fibroma- bundles of spindle shaped fibroblasts
694
granulosa cell tumor
most common malignant stromal tumor. often produces estrogen or progesterone and produces postmenpausal bleeding, sexual precocity (in pre adolescents), breast tenderness. histology shows call exner bodies
695
serous cystadenocarcinoma
most common malignant ovarian neoplasm, frequently bilateral. Psamomma bodies.
696
mucinous cusadenocarcinoma
psuedomyoma peritonei-intraperitoneal accumulation of mucinous material from ovarian or appendiceal tumor.
697
immature teratoma
aggressive contains fetal tissue, neuroectoderm | immature embryonic like neural tissue.
698
dysgerminoma
most common in adolescents sheets of uniform friend egg cells. hCG LDH
699
yolk sac (endodermal sinus tumor)
``` sacrococcygeal area in young children most common tumor in male infants yellow friable (hemorrhagic), solid mass. schiller duval bodies. AFP ```
700
lichen simplex chronicus
hyperplasia of vulvar squamous epithelium. leukoplakia with thick leathery vulvar skin. associated with chronic irritation and scafolding. benign
701
neuritic plaques
A beta amyloid and neuritic processes
702
layers where pyramidal neurons are located
3,5,6
703
thombotic stroke
pale infarcts
704
embolic stroke
hemorrhagic infarct
705
lewy bodies in parkin disease vs lewy body dimentia
in parkinson's they are located in the neuron of the substantia nigra pars compacta in lewy body disease they are located in the cortical neurons hence early dimentia in lewy body and late in parkinson's
706
histology in prion disease
spongy degeneration (spongiform encephalopathy)
707
normal pressure hydrocephalus causes stretching of the
corona radiata This sheet of both ascending and descending axons carries most of the neural traffic from and to the cerebral cortex. The corona radiata is associated with the corticospinal tract, the corticopontine tract, and the corticobulbar tract.
708
genes transferred by specialized transduction
``` ABCDS group A strep erythrogenic toxin botulinum toxin cholera toxin diptheria toxin shiga toxin ```
709
Van A gene from VRE to staph aureus is an example of
transposon
710
spore forming bacteria
bacillus and clostridium | spores have dipicolinic acid
711
Shiga and shiga like toxin
inactivate the 60s ribosome by removing adenine from rRNA
712
heat labile vs heat stabile toxins
heat labile increase cAMP leading to an increase in Cl- secretion heat stabile toxin increases cGMP leading to decreased NA reabsorption
713
two toxins that degrade cell membranes
alpha toxin from clostridium perfringens and streptolysin O from group A strep
714
M marinum
hand infection in aquarium handlers
715
M scrofulaceum
cervical lymphadenitis in | children
716
Cord factor
creates a “serpentine cord” appearance in virulent M tuberculosis strains; activates macrophages (promoting granuloma formation) and induces release of TNF-α.
717
Sulfatides (surface glycolipids)
inhibit | phagolysosomal fusion
718
leprosy | lepromatous vs tuberculoid form
lepromatous mainly TH2 response leading to leonine like facies and is communicable tuberculoid mainly TH1 response limited to few hypoesthetic hairless skin plauqes Treatment: dapsone and rifampin for tuberculoid form; clofazimine is added for lepromatous form
719
Lymphogranuloma venereum
small, painless ulcers on genitals 􀁰 swollen, painful inguinal lymph nodes that ulcerate (buboes). Treat with doxycycline.
720
``` receptors used by viruses: CMV EBV HIV Parvovirus B19 Rabies Nicotinic Rhinovirus ```
``` intergrins (heparin sulfate) CD21 CD4, CXCR4, CCR5 P antigen on RBCs AchR ICAM-1 ```
721
Picornoviruses
``` PERCH polio virus enterovirus rhino virus coxsackie virus hep A ```
722
FLaviviruses
``` Hep C west nile st louis dengue yellow fever zika ```
723
togaviruses
chukinguya rubella virus EEE WEE VEE
724
fillovirus
ebola/marbug
725
negative strand viruses
``` always bring polymerase or fail replication arena virus bunyavirus paramyxovirus orthomyxovirus filoviruses rhabdovirus ```
726
yellow fever virus
``` Aedes mosquitoes. Virus has a monkey or human reservoir. Symptoms: high fever, black vomitus, and jaundice. May see Councilman bodies (eosinophilic apoptotic globules) on liver biopsy. ```
727
segmented viruses
``` BOAR bunyavirus- 3 segments orthomyxovirus- 8 segments arenavirus- 2 segments riovirus 11 segments ```
728
influenza virus
Contain hemagglutinin (binds sialic acid and promotes viral entry) and neuraminidase (promotes progeny virion release) antigens. Patients at risk for fatal bacterial superinfection, most commonly S aureus, S pneumoniae, and H influenzae.
729
Warthin- | Finkeldey giant cells
(fused lymphocytes) in a background of paracortical hyperplasia. sign of measles
730
Dorsal motor nucleus
Sends autonomic (parasympathetic) fibers to heart, lungs, upper GI vagus
731
frontal eye field lesion vs PPRF
frontal eye field lesion produces gazes toward lesion side | PPRF produce gaze away from lesion side
732
hyperopia
Also known as “farsightedness.” Eye too short for refractive power of cornea and lens --> light focused behind retina. Correct with convex (converging) lenses.
733
myopa
Also known as “nearsightedness.” Eye too long for refractive power of cornea and lens --> light focused in front of retina. Correct with concave (diverging) lens
734
astigmatism
Abnormal curvature of cornea 􀁰 different refractive power at different axes. Correct with cylindrical lens.
735
presbyopia
Aging-related impaired accommodation (focusing on near objects), primarily due to decreased lens elasticity, changes in lens curvature, decreased strength of the ciliary muscle. Patients often need “reading glasses” (magnifiers).
736
greenstick fracture
Incomplete fracture extending partway through width of bone A following bending stress; bone is bent like a green twig.
737
torus fracture
Axial force applied to immature bone 􀁰 simple buckle fracture of cortex B . Can be very subtle.
738
Iliohypogastric | T12-L1
``` Sensory—suprapubic region Motor—transversus abdominis and internal oblique injury: Abdominal surgery Burning or tingling pain in surgical incision site radiating to inguinal and suprapubic region ```
739
Genitofemoral nerve | L1-L2
``` Sensory—scrotum/labia majora, medial thigh Motor—cremaster Laparoscopic surgery decreased anterior thigh sensation beneath inguinal ligament; absent cremasteric reflex ```
740
Lateral femoral | cutaneous (L2-L3)
``` Sensory—anterior and lateral thigh Tight clothing, obesity, pregnancy decrease thigh sensation (anterior and lateral) ```
741
Obturator (L2-L4)
``` Sensory—medial thigh Motor—obturator externus, adductor longus, adductor brevis, gracilis, pectineus, adductor magnus Pelvic surgery decreased thigh sensation (medial) and adduction ```
742
Femoral (L2-L4)
``` Sensory—anterior thigh, medial leg Motor—quadriceps, iliopsoas, pectineus, sartorius Pelvic fracture 􀁲 thigh flexion and leg extension ```
743
Sciatic (L4-S3)
``` Sensory—posterior thigh Motor—semitendinosus, semimembranosus, biceps femoris, adductor magnus Herniated disc Splits into common peroneal and tibial nerves ```
744
Common peroneal | L4-S2
``` Sensory—dorsum of foot Motor—biceps femoris, tibialis anterior, extensor muscles of foot Trauma or compression of lateral aspect of leg, fibular neck fracture PED = Peroneal Everts and Dorsiflexes; if injured, foot dropPED Loss of sensation on dorsum of foot Foot drop—inverted and plantarflexed at rest, loss of eversion and dorsiflexion; “steppage gait” ```
745
Tibial (L4-S3)
``` Sensory—sole of foot Motor—triceps surae, plantaris, popliteus, flexor muscles of foot Knee trauma, Baker cyst (proximal lesion); tarsal tunnel syndrome (distal lesion) TIP = Tibial Inverts and Plantarflexes; if injured, can’t stand on TIPtoes Inability to curl toes and loss of sensation on sole; in proximal lesions, foot everted at rest with loss of inversion and plantarflexion ```
746
``` Superior gluteal (L4- S1) ```
``` Motor—gluteus medius, gluteus minimus, tensor fascia latae Iatrogenic injury during intramuscular injection to upper medial gluteal region Trendelenburg sign/gait— pelvis tilts because weightbearing leg cannot maintain alignment of pelvis through hip abduction Lesion is contralateral to the side of the hip that drops, ipsilateral to extremity on which the patient stands Choose superolateral quadrant (ideally the anterolateral region) as intramuscular injection site to avoid nerve injury ```
747
Inferior gluteal (L5-S2)
Motor—gluteus maximus Posterior hip dislocation Difficulty climbing stairs, rising from seated position; loss of hip extension
748
Pudendal (S2-S4)
``` Sensory—perineum Motor—external urethral and anal sphincters Stretch injury during childbirth 􀁲 sensation in perineum and genital area; can cause fecal or urinary incontinence Can be blocked with local anesthetic during childbirth using ischial spine as a landmark for injection ```
749
``` nerve and artery associated with these locations: Axilla/lateral thorax Surgical neck of humerus Midshaft of humerus Distal humerus/ cubital fossa Popliteal fossa Posterior to medial ```
- long thoracic and lateral thoracic - axillary and posterior circumflex - radial and deep brachial - median and brachial - tibial and popliteal - tibial and posterial tibial
750
transferance
Patient projects feelings about formative or other important persons onto physician (eg, psychiatrist is seen as parent).
751
countertransferance
Doctor projects feelings about formative or other important persons onto patient (eg, patient reminds physician of younger sibling).
752
displacement
Redirection of emotions or impulses to a neutral person or object (vs projection). A teacher is yelled at by the principal. Instead of confronting the principal directly, the teacher goes home and criticizes her husband’s dinner selection.
753
Dissociation
Temporary, drastic change in personality, memory, consciousness, or motor behavior to avoid emotional stress. Patient has incomplete or no memory of traumatic event. A victim of sexual abuse suddenly appears numb and detached when she is exposed to her abuser.
754
Identification
A resident starts putting his stethoscope in his pocket like his favorite attending, instead of wearing it around his neck like before
755
Isolation (of affect)
Separating feelings from ideas and events. Describing murder in graphic detail with no emotional response.
756
Projection
Attributing an unacceptable internal impulse to an external source (vs displacement). A man who wants to cheat on his wife accuses his wife of being unfaithful.
757
Rationalization
Proclaiming logical reasons for actions actually performed for other reasons, usually to avoid self-blame. After getting fired, claiming that the job was not important anyway.
758
Reaction formation
Replacing a warded-off idea or feeling by an (unconsciously derived) emphasis on its opposite (vs sublimation). A patient with libidinous thoughts enters a monastery.
759
Repression
Involuntarily withholding an idea or feeling from conscious awareness (vs suppression). A 20-year-old does not remember going to counseling during his parents’ divorce 10 years earlier.
760
Sublimation
Replacing an unacceptable wish with a course of action that is similar to the wish but does not conflict with one’s value system (vs reaction formation). Teenager’s aggression toward his father is redirected to perform well in sports
761
Suppression
Intentionally withholding an idea or feeling from conscious awareness (vs repression); temporary. Choosing to not worry about the big game until it is time to play.
762
Vulnerable child | syndrome
Parents perceive the child as especially susceptible to illness or injury. Usually follows a serious illness or life-threatening event. Can result in missed school or overuse of medical services.
763
Rett syndrome
X-linked dominant disorder seen almost exclusively in girls (affected males die in utero or shortly after birth). Majority of cases are caused by de novo mutation of MECP2. Symptoms usually become apparent around ages 1–4, including regression characterized by loss of development, loss of verbal abilities, intellectual disability, ataxia, stereotyped hand-wringing. No longer a solitary diagnosis within DSM-5.
764
Tourette syndrome
Onset before age 18. Characterized by sudden, rapid, recurrent, nonrhythmic, stereotyped motor and vocal tics that persist for > 1 year. Coprolalia (involuntary obscene speech) found in only 10–20% of patients. Associated with OCD and ADHD. Treatment: psychoeducation, behavioral therapy. For intractable and distressing tics, high-potency antipsychotics (eg, haloperidol, fluphenazine, pimozide), tetrabenazine, α2-agonists (eg, guanfacine, clonidine), or atypical antipsychotics may be used.
765
Disruptive mood dysregulation disorder
Onset before age 10. Severe and recurrent temper outbursts out of proportion to situation. Child is constantly angry and irritable between outbursts. Treatment: psychostimulants, antipsychotics, CBT.
766
Depersonalization/derealization disorder
Persistent feelings of detachment or estrangement from one’s own body, thoughts, perceptions, and actions (depersonalization) or one’s environment (derealization).
767
delusional disorder
Fixed, persistent, false belief system lasting > 1 month. Functioning otherwise not impaired (eg, a woman who genuinely believes she is married to a celebrity when, in fact, she is not). Can be shared by individuals in close relationships (folie à deux).
768
Schizoaffective disorder
Meets criteria for schizophrenia in addition to major mood disorder (major depressive or bipolar). To differentiate from a major mood disorder with psychotic features, patient must have > 2 weeks of hallucinations or delusions without major mood episode.
769
Bipolar disorder (manic depression)
Bipolar I defined by presence of at least 1 manic episode +/− a hypomanic or depressive episode. Bipolar II defined by presence of a hypomanic and a depressive episode. Patient’s mood and functioning usually return to normal between episodes. Use of antidepressants can precipitate mania. High suicide risk. Treatment: mood stabilizers (eg, lithium, valproic acid, carbamazepine, lamotrigine), atypical antipsychotics. Cyclothymic disorder—milder form of bipolar disorder lasting at least 2 years, fluctuating between mild depressive and hypomanic symptoms.
770
major depressive disorder
Episodes characterized by at least 5 of the 9 diagnostic symptoms lasting ≥ 2 weeks (symptoms must include patientreported depressed mood or anhedonia). Treatment: CBT and SSRIs are first line. SNRIs, mirtazapine, bupropion can also be considered. Antidepressants are indicated if bipolar disorder is ruled out. Electroconvulsive therapy (ECT) in select patients. Persistent depressive disorder (dysthymia)— depression, often milder, lasting at least 2 years.
771
Depression with atypical features
Characterized by mood reactivity (being able to experience improved mood in response to positive events, albeit briefly), “reversed” vegetative symptoms (hypersomnia, hyperphagia), leaden paralysis (heavy feeling in arms and legs), long-standing interpersonal rejection sensitivity. Most common subtype of depression. Treatment: CBT and SSRIs are first line. MAO inhibitors are effective but not first line because of their risk profile.
772
Maternal (postpartum) “blues”
50–85% incidence rate. Characterized by depressed affect, tearfulness, and fatigue starting 2–3 days after delivery. Usually resolves within 10 days. Treatment: supportive. Follow up to assess for possible postpartum depression.
773
Postpartum depression
10–15% incidence rate. Characterized by depressed affect, anxiety, and poor concentration for ≥ 2 weeks. Treatment: CBT and SSRIs are first line.
774
Postpartum psychosis
0.1–0.2% incidence rate. Characterized by mood-congruent delusions, hallucinations, and thoughts of harming the baby or self. Risk factors include history of bipolar or psychotic disorder, first pregnancy, family history, recent discontinuation of psychotropic medication. Treatment: hospitalization and initiation of atypical antipsychotic; if insufficient, ECT may be used.
775
Adjustment disorder—
disorder—emotional symptoms (anxiety, depression) that occur within 3 months of an identifiable psychosocial stressor (eg, divorce, illness) lasting < 6 months once the stressor has ended. If stressor lasts > 6 months and causes continual impairment, it is GAD. Treatment: CBT, SSRIs.
776
obsessive compulsive disorder
Recurring intrusive thoughts, feelings, or sensations (obsessions) that cause severe distress; relieved in part by the performance of repetitive actions (compulsions). Ego-dystonic: behavior inconsistent with one’s own beliefs and attitudes (vs obsessive-compulsive personality disorder). Associated with Tourette syndrome. Treatment: CBT, SSRIs, and clomipramine are first line.
777
post traumatic stress disorder
Exposure to prior trauma (eg, witnessing death, experiencing serious injury or rape) 􀁰 persistent Hyperarousal, Avoidance of associated stimuli, intrusive Reexperiencing of the event (nightmares, flashbacks), changes in cognition or mood (fear, horror, Distress) (having PTSD is HARD). Disturbance lasts > 1 month with significant distress or impaired social-occupational functioning. Treatment: CBT, SSRIs, and venlafaxine are first line. Prazosin can reduce nightmares. Acute stress disorder—lasts between 3 days and 1 month. Treatment: CBT; pharmacotherapy is usually not indicated.
778
borderline personality disorder
Unstable mood and interpersonal relationships, impulsivity, self-mutilation, suicidality, sense of emptiness; females > males; splitting is a major defense mechanism. Treatment: dialectical behavior therapy
779
histrionic
Excessive emotionality and excitability, attention seeking, sexually provocative, overly concerned with appearance.
780
factitious disorder imposed on self
Also known as Munchausen syndrome. Chronic factitious disorder with predominantly physical signs and symptoms. Characterized by a history of multiple hospital admissions and willingness to undergo invasive procedures. More common in women and healthcare workers.
781
somatic symptom disorder
Variety of bodily complaints (eg, pain, fatigue) lasting for months to years. Associated with excessive, persistent thoughts and anxiety about symptoms. May co-occur with medical illness. Treatment: regular office visits with the same physician in combination with psychotherapy.
782
``` Conversion disorder(functional neurologic symptom disorder) ```
Loss of sensory or motor function (eg, paralysis, blindness, mutism), often following an acute stressor; patient is aware of but sometimes indifferent toward symptoms (“la belle indifférence”); more common in females, adolescents, and young adults.
783
Illness anxiety disorder (hypochondriasis)
Excessive preoccupation with acquiring or having a serious illness, often despite medical evaluation and reassurance; minimal somatic symptoms.
784
Refeeding syndrome
(increased insulin --> hypophosphatemia --> cardiac complications) can occur in significantly malnourished patients.
785
down syndrome first and second semester ultrasound and serologies
First-trimester ultrasound commonly shows 􀁱 nuchal translucency and hypoplastic nasal bone; decrease serum PAPP-A, increase free β-hCG. Second-trimester quad screen shows decrease α-fetoprotein, increase β-hCG, decrease estriol, increase inhibin A.
786
edward's syndrome serologies
PAPP-A and free β-hCG are decreeased in first trimester. Quad screen shows decrease α-fetoprotein, decrease β-hCG, decrease estriol, decrease or normal inhibin A.
787
patau syndrome
First-trimester pregnancy screen shows 􀁲 free | β-hCG, 􀁲 PAPP-A.
788
genetic disorders asociated with chromosomes 3-7
3 von Hippel-Lindau disease, renal cell carcinoma 4 ADPKD (PKD2), achondroplasia, Huntington disease 5 Cri-du-chat syndrome, familial adenomatous polyposis 6 Hemochromatosis (HFE) 7 Williams syndrome, cystic fibrosis
789
genetic disorders associated with chromosomes 9,11,13,15
9 Friedreich ataxia 11 Wilms tumor, β-globin gene defects (eg, sickle cell disease, β-thalassemia, MEN1) 13 Patau syndrome, Wilson disease, retinoblastoma (RB1), BRCA2 15 Prader-Willi syndrome, Angelman syndrome, Marfan syndrome
790
genetic disorders associated with chromosomes 16, 17,, 18, 21, 22, X
16 ADPKD (PKD1), α-globin gene defects (eg, α-thalassemia) 17 Neurofibromatosis type 1, BRCA1, p53 18 Edwards syndrome 21 Down syndrome 22 Neurofibromatosis type 2, DiGeorge syndrome (22q11) X Fragile X syndrome, X-linked agammaglobulinemia, Klinefelter syndrome (XXY)
791
In thiamine pyrophosphate (TPP), a cofactor for | several dehydrogenase enzyme reactions:
Pyruvate dehydrogenase (links glycolysis to TCA cycle) α-ketoglutarate dehydrogenase (TCA cycle) Transketolase (HMP shunt) Branched-chain ketoacid dehydrogenase
792
riboflavin
vitamin B2 | used in the succinate dehydrogenase reaction
793
vitamin B 5
pantothenic acid | used as a cofactor for fatty acid synthase and Co enzyme A(CoA)
794
vitamin B6
pyridoxine Converted to pyridoxal phosphate (PLP), a cofactor used in transamination (eg, ALT and AST), decarboxylation reactions, glycogen phosphorylase. Synthesis of cystathionine, heme, niacin, histamine, and neurotransmitters including serotonin, epinephrine, norepinephrine (NE), dopamine, and GABA.
795
vitamin B7 is a Cofactor for
Cofactor for carboxylation enzymes (which add a 1-carbon group): 􀂃 Pyruvate carboxylase: pyruvate (3C) --> oxaloacetate (4C) 􀂃 Acetyl-CoA carboxylase: acetyl-CoA (2C) --> malonyl-CoA (3C) 􀂃 Propionyl-CoA carboxylase: propionyl-CoA (3C) --> methylmalonyl-CoA (4C)
796
vitamin C
Antioxidant; also facilitates iron absorption by reducing it to Fe2+ state. Necessary for hydroxylation of proline and lysine in collagen synthesis. Necessary for dopamine β-hydroxylase, which converts dopamine to NE.
797
Glucose-6- | phosphatase
In ER. Glucose-6-phosphate --> glucose.
798
Renal oncocytoma
Benign epithelial cell tumor arising from collecting ducts well circumscribed mass with central scar). Large eosinophilic cells with abundant mitochondria without perinuclear clearing B (vs chromophobe renal cell carcinoma). Presents with painless hematuria, flank pain, abdominal mass. Often resected to exclude malignancy (eg, renal cell carcinoma).
799
Nephroblastoma | Wilms tumor
Most common renal malignancy of early childhood (ages 2–4). Contains embryonic glomerular structures. Presents with large, palpable, unilateral flank mass A and/or hematuria. “Loss of function” mutations of tumor suppressor genes WT1 or WT2 on chromosome 11.
800
WAGR complex
Wilms tumor, Aniridia (absence of iris), Genitourinary malformations, mental Retardation/intellectual disability (WT1 deletion)
801
denys drash
Wilms tumor, early-onset nephrotic syndrome, male pseudohermaphroditism (WT1 mutation)
802
beckwith-wiedeman syndrome
Wilms tumor, macroglossia, organomegaly, hemihyperplasia (WT2 mutation)
803
Most common tumor of urinary tract system (can occur in renal calyces, renal pelvis, ureters, and bladder)
transitional cell carcinoma can be suggested by painless hematuria. smoking, phenacetin, anyline dyes and cyclophosphamide
804
Squamous cell carcinoma of the bladder
Chronic irritation of urinary bladder --> squamous metaplasia --> dysplasia and squamous cell carcinoma. Risk factors include Schistosoma haematobium infection (Middle East), chronic cystitis, smoking, chronic nephrolithiasis. Presents with painless hematuria.
805
grossly orange nodules that can mimic tumor nodules; characterized by widespread kidney damage due to granulomatous tissue containing foamy macrophages
Xanthogranulomatous pyelonephritis
806
Diffuse cortical | necrosis
Associated with obstetric catastrophes (eg, | abruptio placentae), septic shock.
807
Acute interstitial nephritis(tubulointerstitial nephritis)
Acute interstitial renal inflammation. Pyuria (classically eosinophils) and azotemia occurring after administration of drugs that act as haptens, inducing hypersensitivity Associated with fever, rash, hematuria, and costovertebral angle tenderness, but can be asymptomatic 􀂃 Pee (diuretics) 􀂃 Pain-free (NSAIDs) 􀂃 Penicillins and cephalosporins 􀂃 Proton pump inhibitors 􀂃 RifamPin
808
Acute tubular necrosis
Can be caused by ischemic or nephrotoxic injury: 􀂃 Ischemic—2° to decreased renal blood flow (eg, hypotension, shock, sepsis, hemorrhage, HF). Results in death of tubular cells that may slough into tubular lumen B (PCT and thick ascending limb are highly susceptible to injury). 􀂃 Nephrotoxic—2° to injury resulting from toxic substances (eg, aminoglycosides, radiocontrast agents, lead, cisplatin, ethylene glycol), crush injury (myoglobinuria), hemoglobinuria. PCT is particularly susceptible to injury.
809
Renal papillary | necrosis
``` Sloughing of necrotic renal papillae A 􀁰 gross hematuria and proteinuria. May be triggered by recent infection or immune stimulus. SAAD papa with papillary necrosis: Sickle cell disease or trait Acute pyelonephritis Analgesics (NSAIDs) Diabetes mellitus ```
810
Autosomal dominant polycystic kidney disease
Numerous cysts in cortex and medulla
811
Autosomal recessive polycystic kidney disease
Cystic dilation of collecting ducts associated with congenital hepatic fibrosis. Significant oliguric renal failure in utero can lead to Potter sequence
812
Medullary cystic | disease
Inherited disease causing tubulointerstitial fibrosis and progressive renal insufficiency with inability to concentrate urine. Medullary cysts usually not visualized; shrunken kidneys on ultrasound. Poor prognosis.
813
choriocarcinoma
malignancy of trophoblastic tissue (cytotrophoblasts and syncytiotrophoblasts). no chorionic villi present. shortness of breath hemoptysis and increase in beta hCG hematogenous spread to lungs. Hematogenous spread to lungs --> “cannonball” metastases
814
androgen insensitivity syndrome (46XY)
defect in androgen recepto resulting in normal appearing female. female external genitalia with scant sexual hair, rudimentary vagina develop normal functioning testes increased testosterone, estrogen, LH (vs sex chromosome disorders)
815
placental aramotase deficiency
inability to synthesize estrogens from androgens. masculinization of female increase serum testosterone and androstenedione can present with maternal virilization during pregnancy
816
lung development embryonic weeks 4-7
lung-> tertiary bronchi Errors at this stage can lead to tracheoesophageal fistula
817
lung development psuedoglandular 5-17
terminal bronchioles | Respiration impossible, incompatible with life.
818
Respiratory zone
Lung parenchyma; consists of respiratory bronchioles, alveolar ducts, and alveoli. Participates in gas exchange. Mostly cuboidal cells in respiratory bronchioles, then simple squamous cells up to alveoli. Cilia terminate in respiratory bronchioles
819
conducting zone
Large airways consist of nose, pharynx, larynx, trachea, and bronchi. Small airways consist of bronchioles that further divide into terminal bronchioles (large numbers in parallel -> least airway resistance). Warms, humidifies, and filters air but does not participate in gas exchange 􀁰 “anatomic dead space.” Cartilage and goblet cells extend to end of bronchi Airway smooth muscle cells extend to end of terminal bronchioles (sparse beyond this point).
820
Inspiratory Capacity FRC VC TLC
Inspiratory capacity IRV + TV Air that can be breathed in after normal exhalation Functional residual capacity RV + ERV. Volume of gas in lungs after normal expiration Vital capacity TV + IRV + ERV. Maximum volume of gas that can be expired after a maximal inspiration Total lung capacity IRV + TV + ERV + RV Volume of gas present in lungs after a maximal inspiration
821
Lung volumes that cannot be measured on spirometry.
RV TLC FRC
822
changes in FRC with COPD fibrosis
increase | decrease
823
aging cganges in respiratory system
increase in RV, decrease in FVC and unchanged TLC
824
cyanosis and chocolate colored blood
methemoglobia nitrates and benzocaine and can lead to this treat with methylene blue and vitamin C.
825
confusion, headache and almond breathe
cyanide poisoning treat with sodium thisulfate and nitrate poisons cytochrome c and increases anaerobic metabolism.
826
asbestosis
``` Associated with shipbuilding, roofing, plumbing. “Ivory white,” calcified, supradiaphragmatic and pleural plaques are pathognomonic of asbestosis. affects lower lobes increases risk of pleural effusions. ```
827
berryllioses
``` Associated with exposure to beryllium in aerospace and manufacturing industries. Granulomatous (noncaseating) on histology and therefore occasionally responsive to steroids. affects upper lobes ```
828
silicosis
Associated with foundries, sandblasting, mines. Macrophages respond to silica and release fibrogenic factors, leading to fibrosis. It is thought that silica may disrupt phagolysosomes and impair macrophages, increasing susceptibility to TB. Affects upper lobes. “Eggshell” calcification of hilar lymph nodes on CXR.
829
Acute respiratory | distress syndrome
Endothelial damage --> increases alveolar capillary permeability --> protein-rich leakage into alveoli --> diffuse alveolar damage and noncardiogenic pulmonary edema (normal PCWP) Initial damage due to release of neutrophilic substances toxic to alveolar wall and pulmonary capillary endothelial cells, activation of coagulation cascade, and oxygen-derived free radicals
830
sleep apnea
Repeated cessation of breathing > 10 seconds during sleep --> disrupted sleep --> daytime somnolence. Diagnosis confirmed by sleep study. Normal Pao2 during the day. Nocturnal hypoxia --> systemic/pulmonary hypertension, arrhythmias (atrial fibrillation/flutter), sudden death. Hypoxia -- increased EPO release --> increased erythropoiesis.
831
obstructive sleep apnea
Respiratory effort against airway obstruction. Associated with obesity, loud snoring. Caused by excess parapharyngeal tissue in adults, adenotonsillar hypertrophy in children. Treatment: weight loss, CPAP, surgery.
832
obesity hypoventiallation syndrome
Obesity (BMI ≥ 30 kg/m2) --> hypoventilation increased PaCO2 during waking hours (retention); decreased PaO2 and increased PaCO2 during sleep. Also known as Pickwickian syndrome.
833
BMPR2
normally inhibits vascular smooth muscle proliferation. | inactivated in hereditary PH
834
decreased breath sounds, decreased fremitus and dull percussion
pleural effussion and atelectasis. | atelectasis can cause tracheal deviation towards side of the lesion
835
Bronchial breath sounds; late inspiratory crackles, egophony, bronchophony, whispered pectoriloquy, increased fremitus and dull percussion
consolidation (lobar pneumonia, pulmonary edema)
836
pleural effusions - transudate - exudate - lymphatic
-decrease protein content. Due to increased hydrostatic pressure (eg, HF) or decreased oncotic pressure (eg, nephrotic syndrome, cirrhosis). - increased protein content, cloudy. Due to malignancy, pneumonia, collagen vascular disease, trauma (occurs in states of increased vascular permeability). Must be drained due to risk of infection. - Also known as chylothorax. Due to thoracic duct injury from trauma or malignancy. Milkyappearing fluid; increased triglycerides
837
Cryptogenic organizing pneumonia
Formerly known as bronchiolitis obliterans organizing pneumonia (BOOP). Noninfectious pneumonia characterized by inflammation of bronchioles and surrounding structure. Etiology unknown. Secondary organizing pneumonia caused by chronic inflammatory diseases (eg, rheumatoid arthritis) or medication side effects(eg, amiodarone). ⊝ sputum and blood cultures, no response to antibiotics
838
Congestion Red hepatization Gray hepatization Resolution
- 1-2 Red-purple, partial consolidation of parenchyma Exudate with mostly bacteria - 3-4 Red-brown, consolidated Exudate with fibrin, bacteria, RBCs, and WBCs -5-7 Uniformly grayExudate full of WBCs and fibrin -8+ Enzymes digest components of exudate
839
pancoast tumor
Compression of locoregional structures may cause array of findings: 􀂃 Recurrent laryngeal nerve --> hoarseness 􀂃 Stellate ganglion --> Horner syndrome (ipsilateral ptosis, miosis, anhidrosis) 􀂃 Superior vena cava --> SVC syndrome 􀂃 Brachiocephalic vein --> brachiocephalic syndrome (unilateral symptoms) 􀂃 Brachial plexus --> sensorimotor deficits
840
duodenal atresia
failure to recanalize. Associated with “double bubble” (dilated stomach, proximal duodenum) on x-ray ). Associated with Down syndrome.
841
jejunal and ileal atresia
disruption of mesenteric vessels --> ischemic necrosis 􀁰-->segmental resorption (bowel discontinuity or “apple peel”).
842
ventral and dorsal pancreatic buds
Ventral pancreatic buds contribute to uncinate process and main pancreatic duct. The dorsal pancreatic bud alone becomes the body, tail, isthmus, and accessory pancreatic duct. Both the ventral and dorsal buds contribute to pancreatic head
843
hepatoduodenal ligament
Liver to duodenum Portal triad: proper hepatic artery, portal vein, common bile duct
844
gastrohepatic ligament
Liver to lesser curvature of stomach Gastric arteries Separates greater and lesser sacs on the right
845
ligaments of the greater curvature of the stomach
gastrocolic Greater curvature and transverse colon Gastroepiploic arteries gastrosplenic- Greater curvature and spleen Short gastrics, left gastroepiploic vessels Separates greater and lesser sacs on the left
846
splenorenal ligament
Spleen to posterior abdominal wall Splenic artery and vein, tail of pancreas
847
erosions vs ulcerations
into but not over the the muscularis mucosa. | ulcers can extend into the subucosa, inner or outer muscular layer
848
location of meissner plexus and myenteric (auerbach plexus)
meissner is in the submucosa | myenteric (auerbach) is in the muscularis between outer and inner muscular layers
849
transjugular intrahepatic portosystemic shunt
between the portal vein and hepatic vein relieves portal hypertension by shunting blood to the systemic circulation, bypassing the liver. Can precipitate hepatic encephalopathy
850
Above pectinate line
internal hemorrhoids, adenocarcinoma. Arterial supply from superior rectal artery (branch of IMA). Venous drainage: superior rectal vein --> inferior mesenteric vein --> splenic vein --> portal vein Lymphatic drainage to internal iliac lymph nodes. not painful
851
below pectinate line
external hemorrhoids, anal fissures, squamous cell carcinoma. Arterial supply from inferior rectal artery (branch of internal pudendal artery). Venous drainage: inferior rectal vein --> internal pudendal vein --> internal iliac vein --> common iliac vein --> IVC. External hemorrhoids receive somatic innervation (inferior rectal branch of pudendal nerve) and are therefore painful if thrombosed. Lymphatic drainage to superficial inguinal nodes
852
anal fissure
tear in the anal mucosa below the Pectinate line. Pain while Pooping; blood on toilet Paper. Located Posteriorly because this area is Poorly Perfused. Associated with lowfiber diets and constipation
853
lining of sinusoids
kuppfer cells which are macrophages
854
Zone I, II and III of liver
``` Zone I—periportal zone: 􀂃 Affected 1st by viral hepatitis 􀂃 Ingested toxins (eg, cocaine) Zone II—intermediate zone: 􀂃 Yellow fever Zone III—pericentral vein (centrilobular) zone: 􀂃 Affected 1st by ischemia 􀂃 Contains cytochrome P-450 system 􀂃 Most sensitive to metabolic toxins 􀂃 Site of alcoholic hepatitis ```
855
femoral triangle
Contains femoral nerve, artery, vein. Venous near the penis
856
femoral sheath
Fascial tube 3–4 cm below inguinal ligament. Contains femoral vein, artery, and canal (deep inguinal lymph nodes) but not femoral nerve
857
femoral triangle bordered by
bordered by the inguinal ligament (superiorly), adductor longus muscle (medially) and sartorius muscle (laterally)