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Condensed Pathology

Terms in this set (298)

What presents with: conjunctival pallor, pica, spoon nails
Iron deficiency
A-thal causes inc
B4 and g4
What presents with crew cut skull, hepatosplenomegaly, risk with parvovirus B19?
B-thal
Lead poisoning inhibits what enzymes in heme synth
Ferrochelatase and ALA dehydrogenase
What causes basophilic stippling
rRNA degradation —> aggregate
Ringed sideroblasts characterizes what anemia
Caused by
Sideroblastic anemia

Iron deposits around nucleus — iron enters, can't make heme
What enzyme is defected in sideroblastic anemia
ALA synthase
What reversible causes lead to siderblastic anemia (6)
Alc
Lead
Vit B6 deficiency
Copper deficiency
Isoniazid
Chloramphenicol
How do you tx sideroblastic anemia
Vit B6
What is the bases for microcytic hypochromic anemia
Can't make heme or thalassemias
What is the bases for megaloblastic microcytic anemia
Impaired DNA synth
Alcohol malnutrition what vitamin deficiencies?
Folate, B1 thiamine
What drugs inhibit folate
Methotrexate, trimethoprim, phenytoin
Vitamins b12 has what types of symptoms
Neuro - bc B12 involved in myelin synth
What is the difference between orotic aciduria and ornithine transcarbamylase deficiency?
Both cause orotic acid in urine

Ornithine causes hyperammonia bc it affects urea cycle
What presents with: short, craniofacial abnormalities, triphalangeal thumbs
What type of Hb is increased?
Diamond-Blackman anemia — defect in erythroid progenitor cells —> nonmegaloblastic microcytic anemia
HbF
What causes an increase in hepcidin?
Inflammation in anemia of chronic disease
What does hepcidin do
Dec iron avail via gut and macrophages
What anemia can cause cafe-au-lait spots and thumb defects?
Aplastic
In what what cause is there a dec in haptoglobin
Intrinsic hemolytic anemia (bind lysed Hb)
How does pyruvate kinase deficiency cause extravascular hemolysis
Dec ATP makes RBC rigid
What 4 things cause oxidative stress?
Sulfa, antimalarias, infections, fava beans
What 2 anemias cause crew cut skull
Sickle cell, B-thalassemia
- due to bone marrow expansion
Tx for sickle cell
Hydroxyurea (inc HbF)
What disease is caused by defective CD55, CD59 on RBC
Paroxysmal nocturnal hemoglobinuria — due to complement attack
Tx for parox noct hemoglobinuria
Eculizumab - target complement C5
What's the difference between intrinsic and extrinsic anemia
Intrinsic has problem within RBC
Extrinsic has normal RBC but something is attacking the RBC
What anemia is caused by Ig attacking RBC?
AI hemolytic anemia
What is porphyria
Problem in making heme
What presents with: painful ab, port wine urine, polyneuropathy, psych (explain why you have these symptoms)
Acute intermittent porphyria

Ab: ALA affects neuro by crossing BBB —> ANS in GI problems
Port wine urine: excess porphopbilinogen
Polyneuropathy: ALA cross BBB
Psych: ALA cross BBB
What precipitates acute intermittent porphyria
CYP450 inducers, alc, starvation, certain drugs ——— sitatuations where need to make heme (but can't)
What hematologic disorder presents with blistering hyperpigmented photosensitivty
Porphyria cutaneous tarda
Porphyria cutaneous tarda - inh what enzyme
Uroporphyrinogen DC —> tea urine
Where do atherosclerotic plaques develop compared to hypercoaguable states
Atherosclerotic - high pressure areas like aorta, carotids, coronary
Hypercoag states -from stasis, embolism, causes pulm straddle embolism
What disorder is caused by anti-GpIIb/IIIa antibody
Immune thrombocytopenia
What type of disorder is TTP/ HUS?
Platelet disorder (normal PT/PTT)
Difference in etiology of TTP and HUS
TTP - ADAMTS13 def can't cleave vWF
HUS - EHEC toxin
What is the triad of TTP and HUS
Thrombocytopenia
Microangiopathic hemolytic anemia
Acute kidney injury
Tx of von Willebrand disease
desmopressin (releases vWF stored in endothelium)
What disorder is caused by widespread activation of clotting, leading to a clotting factor deficiency
DIC
Inc BT, PTT, PT
Hodgkin has what CD markers
CD15, CD30 ——NOT CD20
B cell origin
What causes the mass in hodgkins vs non hodgkins?
Hodgkins: reeds recruit other inflammatory cells via cytokines —> mass
Non-hodgkins: malignant cells themselves —> mass
What is characteristics of the most common type of hodgkins
Modular sclerosis - broad pink bands of fibrosis
What lymphoma is characterized by eosinophilia (recruited by?)
Mixed cell hodgkins (IL-5)
What translocation in burkitt lymphoma
What is the function?
C-myc on 8 —> IgH on 14

C-myc: activates multiple genes for promotion of growth
Which neoplasia is characterized by starry sky on histo
Burkitt - (due to fast turnover)
Which lymphoma grows diffusely in sheets
Diffuse large B-cell lymphoma

(No structure)
DLBCL (diffuse large B cell lymphoma) can arise from
Follicular lymphoma
What lymphomas present as painless lymphadenopathy?
Follicular and mantle (follicular is good, mantle is aggressive)
What translocation of follicular lymphoma
Function?
Bcl-2 on 18 —> IgH on 14
Inh apoptosis
Tx of follicular lymphoma
Rituximab —— Ab against CD20
Which lymphoma has CD5+
Mantle cell lymphoma
What translocation in mantle cell lymphoma
Funciton
Cyclin D1 on 11 —> IgH on 14
G1 —> S phase by phosphorylation
What lymphoma is seen following chronic inflammation
Marginal zone lymphoma
Which neoplasm is presents with cutaneous lesions, lytic bone lesions, hyerCa
Adult T-cell lymphoma

*don't confuse with MM —— T cell goes to skin!
What neoplasm has histo with fried egg appearance and cause bone lesions
Mult myeloma
What neoplasm has lots of Ig light chains, M spike, and stacked poker chip RBCs
Multiple myeloma
What does myelodysplastic mean?
Lymphoid neoplasms
Myeloproliferative disorders
Ineffective maturation of blood cells from bone marrow
Lymphoid - malignant transformation
Myeloprolif - overgrowth (commonly have JAK2 mutation which stimulates marrow growth)
ALL has what markers
TdT+, CD10
CLL has what markers
CD20, CD23, CD5, smudge cells
AML has what markers
MPO + inclusions
Which leukemia is associated with downs
ALL
Hairy cell leuk has what mutation
BRAF
What leukemia is asymptomatic
CLL
What leukemia can spread to CNS, testes, or present with SVC like syndrome
ALL
What leukemia presents with splenomegaly and pancytopenia
Hairy cell - (dry tap)
What leukemia presents with DIC
AML
What do you use to tx AML
Vit A and arsenic —> induce differentiation
What leukemia presents with splenomegaly no pancytopenia
CML
Which disorder is associated with tear drop cells, massive splenomegaly, dy bone tap
Myelofibrosis
—- due to TGF-beta secretion —> collagen and fibrosis —> extramedullary hematopoiesis
What presents with lytic bone lesions, skin rash, otitis media
Langerhans histiocytosis (S-100)
Otitis media (involves mastoid bone)
What chromosome is the Ig heavy chain on?
Chromosome 14
Tumor lysis syndrome has what effect?
HyperK, hyperPhos —> hypoCa, hyperUricemia

low Ca leads to seizures
High K leads to muscle weakness
Ca and K leads to arrhythmias
Ischemic stroke histo of: <1 day
Eosinophilic cytoplasm and red nuclei
Ischemic stroke histo of: 1-3 days
Necrosis and neutrophils
Ischemic stroke histo of: 3-5 days
Microglia
Ischemic stroke histo of: 1-2 weeks
Gliosis with astrocytes + vascular proliferation
Ischemic stroke histo of: >2 weeks
Glial scar
How can you tell its an transient ischemic attack?
(-) brain scan but focal brain lesion symptoms
What type of herniation can occur in epidermal hematoma
Transtentorial (uncal)
Subdural hematoma complications
Vasospasm or obstructive hydrocephalus
Subfalcine herniation can compress
Anterior cerebral artery
What presents with: Ipsilateral blown pupil and contralateral hemiparesis
Uncalled transtentorial herniation
What artery in stroke presents with: paralysis to half of body
Lenticulostriate a (basal ganglia and internal capsule)
What artery in stroke presents with: contralateral paralysis and ipsilateral tongue deviation
Anterior spinal artery
What artery in stroke presents with: locked in syndrome with only vertical eye movements
Basilar artery
What differentiates a posterior and anterior inferior cerebellar artery stroke
Posterior - affects medulla with dysphagia and hoarseness
Anterior - affects pons with paralysis of face
What presents with: contralateral hemianopia with macular sparing
Posterior cerebral artery stroke
What CT disease is associated with berry aneurysms
Ehlers danlos
Compression of posterior communicating branch of circle of Willis causes what
Ipsilateral CN III palsy —> mydriasis, ptosis
What complications can cause asterixis
Hepatic encephalopathy
Wilsons disease
What complications can cause myoclonus
Renal and liver failure (Brief, uncontrolled mvmt)
MPP+ drug causes what neuro disorder
Parkinsons
Lewy bodies are made of
Found in what neuro disorder
A-synuclein
Parks
Picks disease inclusions (characterize)
Hyperphosphorylated tau and ubiquinated TDP-43 inclusions
What cell types are found in herpes encephalitis
Lymphocytes and erythrocytes
Gillian-barre syndrome CSF (characterize)
Inc protein
(Normal everything else)
What disorder is associated with oligoclonal bands
MS
What type of neuro symptoms are due to post infectious encephalomyelitis
Multifocal
Type 4 hypersensitivty
Foot deformities, motor and sensory neuropathy is due to what?
Defective proteins in myelin sheath
(Charcot-Marie-tooth)
Progressive multifocal leuko (PML) due to what
Destruction of oligodendrocytes
Lysosomal disorder causing oligodendrocyte demyelination is what
Krabbe
Lysosomal disorder causing peripheral demyelination is what
Metacrhomatic leukodystrophy
Tram track calcifications, episcleral hemangioma, seizures, port wine stain is due to what gene mutation
GNAQ (sturge-Weber)
Angiofibromas, mitral regurg, cardiac rhabdomyoma, renal angiomyolipomas due to what mutation
TSC1 (tuberous sclerosis)
Cafe-ai-lait spots, Pheochromocytoma, bone lesions, cutaneous neurofibromas, optic gliosis due to what mutation
NF-1 (neurofibromatosis 1)
Lateral vestibular schwannomas, juvenile cataracts, meningiomas, ependymoma due to what mutation
NF2
Which brain tumor is pseudopalisading
Glioblastoma
Which brain tumor affects frontal lobes and is calcified
Oligodendroglioma
What brain tumor has a whorled pattern with psamomma bodies
Meningioma
What brain tumor is cerebellar and can produce EPO
Hemangioblastoma
What brain tumor can involve CN7 and 8
Schwannoma
What child brain tumor has eosinophilic fibers in the cerebellar area
Pilocystic astrocytoma
What child brain tumor has homer wright rosettes adn compress 4th ventricle
Medulloblastoma
What child brain tumor has perivascular pseudorosettes and compress 4th ventricle
Ependymoma
What child brain tumor has vertical gaze palsy and early puberty
Pinealoma
(From hCG)
ALS is caused by defect in
Superoxide dismutase
What spinal cord lesion can cause Romberg sign
Tabes dorsalis
(Dorsal column and roots - sensory ataxia)
Polio affects what part of the spinal cord
Anterior horn
Which ataxia is due to impaired mitochondrial function?
What else does it presents with?
Friedreich ataxia
Staggering gait, nystagmus, pes caves hammer toes, kyphoscoliosis, HOCM, DM
Which cranial nerve associated with uvula to one side
CN 10
Eye cupping and peripheral visual loss is due to
Glaucoma
Cotton wool spots and retinal hemorrhages are due to
Hypertensive retinopathy
Degradation of photoreceptors and crinkling retinal tissue is due to
Retinal detachment
Painless vision loss with cherry red fovea spot is due to
Central retinal artery occlusion
Optic disc swelling is due to
Pailledema
Horner syndrome is due to
Sympathetic denervation
DM glucose —> sorbitol accumulation leads to what ocular palsy
CN3 motor
Absent pupillary reflex, blown pupil, down out gaze is due to what ocular palsy
CN 3 Parasympathetic compression
Not being able to look down is due to what ocular palsy
CN4
Turner has what characteristics
Streak ovary, bicusp aorta, horschoe kidney, short 4th finger
Aromatase deficiency does what to the baby
Masculinization females - can't convert androgens to estrogen
5a reductase deficiency does what to thebaby
Ambiguus genitalia in male — until puberty
Can't convert testosterone to DHT
Choriocarcinoma is from what tissue — association>
Trophoblsatic tissue —> canonball lung opacities
HELLP syndrome
Hemolysis, elevated liver enzymes, low platelets
extrammamry paget disease is what type of neoplasia
Adenocarcinoma (glandular)
What causes hematocolops (menstrual blood in vagina)
Imperforate hymen
Koilocytes found where?
Cervical dysplsia
HPV 16, 18 produces what?
R6 (inh TP53) and E7 (inh pRb)
Invasive cervical carcinoma can cause what complication
Hydronephrosis by invading ureters
What are the most common causes of anovulation?
Polycystic ovarian syndrome, obesity, hyperprolactinemia, cushing syndrome, thyroid disorders, turner
What does PCOS present as:
Amenorrhea, hirsutism, acne, unopposed estrogen, big ovaries
What is CA-125
Used to monitor ovarian relapse and therpay
What ovarian neoplasm has psammoma bodies
Serous cystadenocarcinoma
EPITHALIAL
What ovarian neoplasm can be mets from GI
Mutinous cystadenocarcinoma
EPITHELIAL
What ovarian neoplasm can result in hyperthyroidism
Strums ovarii (mature cystic teratoma)
GERM CELL
What ovarian neoplasm is equivalent to male seminoma? What tumor markers
Dysgerminoma
hCG, LDH
GERM CELL
What ovarian neoplasm has fetal tissue and neuroectoderm
Immature teratoma
GERM CELL
What ovarian neoplasm has Schiller-Duvall bodies (glomeruli looking) and is yellow and friable
What tumor marker
Yolk sac tumor
AFP
GERM CELL
What neoplasm is associated with ascites, pleural effusion, pulling sensation at groin?
Ovarian fibroma
SEX CORD STROMAL
What ovarian neoplasm can cause virilization
Sertoli-leydig
SEX CORD STROMAL
What ovarian neoplasm can present with abnormal bleeding in postmenopausal woman? Why
Thecoma
Produce estrogen
SEX CORD STROMAL
What ovarian neoplasm has granulosa cells around eosinophilic fluid
Presents with postmen bleeding and hyperplasia, breast tenderness, make est/ prog
Granulosa cell tumor
SEX CORD STROMAL
What uterine neoplasm has a whorled pattern on histo and is estrogen sensitive
Leiomyoma
What breast pathology has mobile defined mass and gets bigger with estrogen
Fibroadenoma - Benign
What breast pathology commonly causes nipple discharge
Intraductal papilloma
How does cirrhosis cause gynecomastia
Inc SHBG —> cause dec testosterone
(In both males and females, SHBG is synthesized in the liver, but for males it is also synthesized in the Sertoli cells. When there is liver cirrhosis, the estrogen can't be metabolized and builds up. Estrogen induces SHBG synthesis, and because of the liver's inability to do so, the Sertoli cells take over.)
What drugs cause gynecomastia
Spironolactone, cimetidine, finasteride, ketoconazole
What breast pathology has microcalcifications and no mass
Ductal carcinoma in situ (non-inv malignant)
What breast pathology has central necrosis and dystrophic calcifications
Comedocarcinoma
What breast pathology has no mass no calcification
Lobular carcinoma in situ
Breast architecture from stroma to nipple
Stroma —> terminal lobular unit —> major duct and lactiferous duct
Lactiferous usually benign
Lobular usually malignant
What breast pathology has single file cells
Due to what?
Invasive lobular
Dec E Catherine expression
Often bilateral
What breast pathology can mimic fibroadenoma
Medullary (large anaplstic cells growing in sheets)
What breast pathology has orange peal
Inflammatory
What testicular pathology has fried egg appearance
What marker
Seminoma
ALP
What testicular pathology resembles glomeruli, yellow mucinous
What marker
Yolk sac tumor
AFP
What testicular pathology is associated with spread to lungs and brain, maybe gynecomastia and hyperthyroidism?
Marker
Choriocarcioma
hCG
What testicular pathology is hemorrhagic with necrosis
Embryonal
What testicular pathology has reinke crystals (eosinophilic), causes gynecomastia
Leydig
What testicular pathology arises from metastatic lymphoma
Testicular lymphoma
What injury when walking holding hands then fall
Presents with?
Radial head subluxation
Extended and pronated
What kind of mutation/environment in osteopetrosis
CA1 mutation - non acidic
What enzyme is increased in osteomalacia/ rickets
ALP
What bone pathology: lateral bony projections of growth plate
Osteochondroma
What bone pathology: surface of facial bones
Osteoma
What bone pathology: bony mass radiolucent core, relieved by NSAIDs
Osteoid osteoma
What bone pathology: found on vertebrae
Osteoblastoma
What bone pathology: small bones, cartilage
Chondroma
What bone pathology: soap bubble lesions
Giant cell tumor
What bone pathology: sunburst pattern, malig blasts
Osteosarcoma
What bone pathology: malignant chrondro at pelvis
Chondrosarcoma
What bone pathology: neuroectodermal, onion skin
Similar to? How can you tell apart
Ewing sarcoma
Chronic osteomyelitis
Ewing has t(11;22) fusion protein EWS-FLI1
What happens in rheum arth?
Macrophages release TNF-a for inflammation
What non joints are associarted with ankylosing spondylitis
Uveitis, aortic regurg, restrictive lung disease
Reactive arthritis triad
Conjunctivitis, urethritis, arthritis
SLE presents with (3)
Rash joint pain fever
SLE associated with
Libyan-sacks endocarditis and lupus nephritis
Polymyalgia rheumatica is associated with
Presents with
Giant cell temporal arthritis
Inc ESR, C-receptor protein, normal CK
Gottron papules, facial erythema on eye lids w/ CD4 and risk of malignancy
Dermatomyositis
Difference between myasthenia gravis and lamber-Eaton myasthenic syndrome
MG - against ACh, worsens with muscle use
LE - against Ca, improves with muscle use
What disorder presents with: scanty lymph nodes and tonsils, absent B cells in blood, no B-cell maturation, dec in all Ig
X-linked agammaglobulinemia
What disorder presents with: dec in plasma cells and Ig (differentiation problem)
Common variable immunodeficiency
What disorder presents with: 22q11 microdeletion and failure to develop 3rd/ 4th pouches
Associarted with?
Absent thymus and parathyroids
Cardiac defects
DiGeorge
IL-12 receptor deficiency has decreased response to
IFN-gamma and Th1 (dec response from macrophages and cytotoxic T cells)
What disorder presents with: absent thymic shadow on CXR and and germinal centers in lymph nodes
SCID
Ataxia-telangiectasia is due to
Unable to detec DNA damage
Neurodegneration and albinism due to
Lysosomal trafficking defect and Microtubule dysfx in phagolysosome pfusion
What glomerular disease can be caused by NSAIDs
Membranous (nephrotic)
What glomerular diseases are associated with SLE
Diffuse prolif
Membranous
What 3 glomerular diseases have complement deposition
Membranous - under podocytes
Type 1 membranoproliferaive - subendothelial
Type 2 memranoproliferative - basement membrane
Difference between membranoproliferative types
Type 1 - hep B/C infection
type 2 - C3 nephritic factor that stabilizes C3 convertase
Difference between goodpasture and wegners
Goodpasture - Ab agaisnt lungs and kidneys —> hematuria, hemoptysis
Wegner - c-ANCA —> above + sinusitis
Both have linear IF glomerulonephritis
What 2 disorders have p-ANCA
Microscopic polyangiitis
Churg struasss - has granulomatous eosinophilia

Both have linear IF glomerulonephritis
What glomerular disease has type IV collagen mutation
Presents as:
Alport
Can't see can't pee can't hear a bee
What kidney stone can precipitate from vit C abuse
Calcium ocalate
Nephroblastoma wilms tumor can be associated with what 3 syndromes
WAGR - no iris (WT1 mutation)
DD - dysgenesis of gonads (WT1 mutation)
Beck - macroglossia, organomegaly (WT2 muation)
What presents with smaller kidneys on ultrasound
AD tubulointerstitial kidney disease (medullary disease where can't concentrate urine)
What presents with eosinophilic casts that look like thyroid tissue
Chronic pyelonephritis
Prerenal azotemia has what BUN/Cr
Inc bc urea reabs, Cr not
Intrinsic renal failure/ acute tubular necrosis has what BUN/Cr ratio
Dec GFR cause dec BUN/Cr ratio
Acute interstitial nephritis is due to
5 Ps: Pee, Pain free, Penicillins and cephs, PPIs, rifamPin
Diuretics, NSAIDs, penicillins and cephalosporins, PPIs, rifampin
Acute tubular necrosis presents with
Oliguria then polyuria
What presents with S1Q3T3
Pulmonary emboli
Pulmonary HTN has what pressure
> 25 mm Hg
What disease has permanently dilated airways
Presents with
Bronchiectasis
Hemoptysis, digital clubbing
What pneumoconioses presents with: calcified supradiaphrgmatic and pleuritic plaques
Asbestos
What pneumoconioses presents with: noncaseating granulomas
Berylliosis
What pneumoconioses presents with: small, rounded nodular capacities on imaging in upper lobes
Coal
What pneumoconioses presents with: eggshell calcification of hilar lymph nodes
Silicosis w/ TB risk bc silicosis impairs macrophages
What presents as bilateral hilar lymphadenopathy and noncaseating granuloma
Srcoidosis
What lung pathology associated with pancreatitis
ARDS
ARDS presents as
Abnormal CXR, resp failure in 1 week, not due to HF
What is atelectasis
Alveolar collapse
What pneumonia has (-) sputum cultures (actually not microbial lol)
Cryptogenic organizing - caused by chronic inflammatory diseases
Atypical pneumonia invades what
Interstitium
Progression of lobar pneumonia
Congestion - bacteria, neutrophils, cytokines (1-2 days)
Red hepatization - fibrin RBC WBC (3-4 days)
Grey hepatization - macrophages (5-7 days)
Resolution - mo digest (8+ days)
What marker is in mesothelioma not carcinoma
Calretinin
Small cell carcinoma has what types of cells
Neuroendocrine Kulchitsky cells
Chromogranin A, synaptophysin
What lung neoplasm makes PTHrP
Squamous cell carcinoma (hilar mass)
Pancoast tumor located where
Apex lung
What esophageal pathology associated with T cruzi
Achalasia
Esophagitis differences in HSV-1 vs CMV
HSV-1 - punchedout ulcers
CMV - linear
Difference between boerhaae adn Mallory Weiss
Boerhaave - transmural
Mallory Weiss - mucosa/ submucosa
CREST
Calcification on skin, raynauds, esophageal dysmotility, sclerodactyly skin tightening, telangiectasia
Cushing ulcer pathogenesis
Inc ICP —> vagal stim —> ACh —> histamine release —> inc cAMP —> H+ production —> acid/ ulcer
Acute gastritis due to:
NSAIDs, hypovolemia, cushing ulcer/ ICP
Gastric cancer can involve what node
Left supraclavicular node
What presents with villous atrophy, crypt hyperplasia
Celiac disease - leads to malabsorption
Pancreatic insufficiency can be measured with
Dec fecal elastase
Whipple disease presents with
Cardiac, arthralgias, neuro
What polyp syndrome presents with thousands of polyps
FAP: APC mutation on 5q22
What polyp syndrome presents with osseous and soft tissue tumors
Gardner syndrome
Lynch syndrome is due to what problem
Associated with
Microsatellite instability
Endometrial, ovarian, skin cancers
Peutz jeaghers presents as
Polyps + hyperpigmented macules
Adenoma carcinoma pathway
Normal — APC lost — at risk, inc proliferation — KRAS mutation — adenoma — p53 tumor suppressor lost — carcinoma
Metastatic carcinoid is usually from where
ECL cells — produce 5-HT, bradykinin, PG
Hirschsprung disease is due to failed what
Neural crest migration (RET mutation)
Kids with viral infection given aspirin presents with
Hepatic encephalopathy
What marker in hepatocellular carcinoma
AFP
Kaiser-fleischer rings in cornea found in what
Wilsons copper build up
Hemochromatosis is what
Iron overload —> form free radicals
a1-antitrypsin deficiency also affects
Liver
Conjugated hyerblirubinemia is due to
Problem secreting bile (already conjugated but can't secrete)
What enzyme is used to conjugate bile
UDP-glucoronyltransferase
What effect does biliary atresia have
No bile flow —> Conjugated bilirubin build up in liver —> Jaundice, dark urine, pale stools
Onionskinning of bile duct is associated with
Ulcerative colitis, p-ANCA, middle aged men w/ IBD
AI with lymphocytic infiltrate of bile duct is associated with
Inflammatory states in middle aged women, anti-mitochondrial Ab
What is associated with cholesterol stones
Crohns (bile acid reabs)
Estrogen therapy (inc cholesterol)
Cirrhosis (can't make bile acids)
Pigment stones are due to
Hemolysis
What presents with nausea vomiting RUQ pain after fatty meal
Biliary colic - gallbladder contract adn force stone out
+ Murphy sign indicates - may radiate to right shoulder
Cholecystitis
Cholangitis due to bacterial growth presents with jaundice fever RUQ pain and what?
Altered mental status, shock
What presents with epigastric pain radiating to back?
Acute pancreatitis
Acute pancreatitis has inc of what enzymes
Amylase, lipase
Imaging of acute pancreatitis shows
Edema/ pseudocyst
Imaging of chronic pancreatitis shows
Atrophy, calcification
Causes of acute vs chronic pancreatitis
Acute all sorts of irritants
Chronic - alc and CF
CA 19-9 is tumor marker for
Pancreatic adenocarcioma
What presents with: ab pain radiating to back, migratory thrombophlebitis, enlarged nontender gallbladder
Pancreatic adenocarcinoma
Paraneoplastic ACTH can come from
SCC, bronchial carcinoids
Neuroblastoma grows where
What mutation
Adrenal medulla
N-myc oncogene amplification
Carcinoid syndrome is found where
Small bowel, lung
What vitamin deficiency can precipitate carcinoid syndrome?
Niacin (B3) shunts tryptophan to serotonin instead of niacin
Chromaffin cells are located where
Adrenal medulla
What germline mutations are associated with Pheochromocytoma
NF-1, VHL, RET (MEN2A, 2B)
What presents with pressure, pain, perspiration, palpiations, pallow
Pheochromocytoma (sympathetic symptoms!)
Which thyroid disorder is AI antithyroid peroxidase?
What neoplasm is it associated with
What characteristic is the thryoid
Hashimotos - HYPO
Risk for non-hodgkins
Enlarged, nontender
Which thyroid disorder presents with yellow skin, large fontanels, macroglossia, umbilical hernia, pale, puffy faced?
Congenital hypothyroidism - from mother Ab-mediated hypothyroidism
Wolff-chiakoff effect vs Jon basedow
Thyroid gland down reg — due to inc iodine
Iodine induced hyperthyroidism
What findings in hypo and hyperthyroidism
Myopathy, myxedema, abnormal uterine bleeding, gynecomastia, dec libido
Which thyroid neoplasm has empty appearing nuclei, psommmoma bodies, nuclear glooves
Papillary
Which thyroid neoplasm has amyloid stroma
Associated with?
Medullary
From parafollicular C cells
MEN2A, 2B
Contract facial muscle by tapping cheek and carpal spasm when BP cuff are signs of
Low Ca2+ due to hypoparathyroidism
What causes hypoCa, shortened 4th/5th digits, short, obese, developmental delay?
What is the defect from?
Gs protein end organ resistance to PTH in kidney and bone
Defect from mother due to imprinting
What presents with stones, thrones, bones, groans, psychiatric overtones
Hyperparathyroidism
SIADH presents with
Why?
Euvolemic, hypoNa
Water retention and high pressure inhibits aldosterone and inc ANP/ BNP —> Na excretion
What 2 main complications are due to DM
Non-enyzmatic glycation
Osm damage

Sorbitol accumulation —> peripheral neuropathy, cataracts
Osmotic damage from DM causes what
Peripheral neuropathy and cataracts
What is associated with HLA DR3, DR4
DM1
What do you administer if DM2 is hypoglycemic?
Glucagon to stimulate liver to make glucose
In hyperOsm hyperglycemic state what is: serum osm, pH, ketones?
Inc serum osm
Normal pH (because no ketones)
MEN1
Pituitary - prolactin, GH
Pancreatic - gastrinoma, insulinoma, VIPoma, glucagonoma
Parathyroid - adenoma
MEN2A
Parathyroids
Medullary thyroid carcinoma (makes calcitonin)
Pheochromocytoma —> catecholamines
MEN2B
Medullary thyroid carcinoma
Pheochromocytoma
Mucosal neuromas
*marfinoid habitus
Which MI is associated with bradycardia
Inferior MI (where SA node is)
what presents with anemia and neurologic defects?
vit B12 deficiency
methylmalonyl CoA and homocysteine build up in vit B12 deficiency has what neuro effects
methylmalonic --> impaired myelin
homocysteine --> impaired DNA synthesis
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