Heme/Onc Flashcards
hypochromic, microcytic anemia
- low iron, low ferretin
- high TIBC
koilonychia, atrophic glossitis, weakness, pallor
iron def anemia
African American, self-limiting fatigue and jaundice after taking NSAIDs or TMP-SMX
- dark urine, increased bili
- AR
G6PD deficiency
- hemolysis after oxidative stress
warfarin effect on PT, PTT, bleed time
PT: up
PTT: +/-
bleed time: normal
heparin effect on PT, PTT, bleed time
PT: normal
PTT: up*
bleed time: normal
vWD effect on PT, PTT, bleed time
PT: normal
PTT: normal
bleed time: up
DIC effect on PT, PTT, bleed time
PT: up
PTT: up
bleed time: up
hemophilia A effect on PT, PTT, bleed time
PT: normal
PTT: up
bleed time: up
young female, mediastinal mass, painless LAD, B sx, Reed Sternberg, lacunar cells, lymphocytes
HL: nodular sclerosis type
- excellent prog
t(14:18)
follicular lymphoma
- second most common B cell lymphoma
- arises from germinal centers
- middle age caucasians
t(8:14)
Burkitt lymphoma
auer rods?
APML
t(15:17)
APML
hypotension, paresthesias, paralysis caused by eating fish
tetrodotoxin, from puffer fish
- blocks sodium channels
what is the MOA of latrotoxin (black widow spider)?
depolarizes neurons -> enhances calcium -> uncontrolled exocytosis from nerve terminals
type I collagen defect arising from a deficiency of the amino acid glycine
- blue sclera
- frequent fractures
- scoliosis, hyperextensible joints
osteogenesis imperfecta
type III and V collagen defect
- hypermobile joints, tendon rupture, fragile skin
- dental crowding, flat feet
- valvular heart disease (MVP)
- myalgias
Ehlers-Danlos
MC lymphoma of adulthood, males in their 80’s
- usually asx, or painless LAD
- small mature lymphocytes, clumped chromatin, smudge cells
- CD 5, CD 19, CD 20, CD 23
CLL
δ-aminolevulinic acid is formed by the combination of what?
succinyl-CoA and glycine
- first step in heme synthesis (inhibited by lead)
ristocetin cofactor assay is diagnostic of what?
vWD
what 2 enzymes does lead inhibit?
- ferrochelatase (last enzyme in the pathway of heme synthesis)
- δ-aminolevulinic acid dehydratase (ALA-dehydratase)
what is tx for mild hemophilia?
desmopressin
70-80’s, fever, night sweats, and weight loss
- anorexia, fatigue, chest discomfort
- mediastinal lymphadenopathy -> rapidly enlarging mass
- extranodal manifestations are common in liver, spleen, testes, etc
- on histo, diffuse infiltrate of large and small cells
- xsome translocation involving BCL-6.
diffuse large B cell lymphoma
what 3 drugs are known to cause folate deficiency?
- methotrexate
- OCP’s
- phenytoin -> inhibits intestinal conjugase that converts polyglutamate to monoglutamate in the jejunum
what seizure med inhibits sodium influx into neurons, thereby decreasing their ability for depolarization
- does so for neurons in the resting state and in the depolarization state
- adverse drug reactions include gingival hyperplasia, megaloblastic anemia secondary to folate deficiency, hirsutism, and inhibition of anti-diuretic hormone release
phenytoin
- teratogenic
elevated homocysteine?
folate def
- elevated levels of homocysteine -> hypercoagulability
- risk of vessel thrombosis
elevated homocysteine and MMA?
vit B12 def
- look for neurological sx to distinguish folate from b12 def!
Anti-microsomal antibodies are associated with what?
Hashimotos thyroiditis
Anti-histone antibodies are associated with what?
drug-induced SLE
Antinuclear antibody (ANA) screening
- specific tests for anti-topoisomerase I (anti-Scl-70), anticentromere (ACA)
- anti-RNA polymerase III antibodies
scleroderma
teenage male with mid shaft pain of long bones
- bx shows anaplastic small blue cells with hyperchromatic nuclei and scant cytoplasm
- “onion skin” layers around the involved diaphysis
- MIC2 (12E7) antigen (CD99) positive
ewing sarcoma
- t(11:22)
malignant tumor that peaks at 10 to 20 years of age
- arises from the metaphysis of long bones
- destruction of the marrow cavity, and extension into the surrounding tissue with formation of a Codman triangle
- sunburst pattern on x-ray
osteosarcoma
rare, slow-growing, locally aggressive neoplasms of bone that arise from embryonic remnants of the notochord
- tumors typically occur in the axial skeleton and are most common in the inner skull base and sacrum (will never be in extremities)
- vesicular nuclei with abundant vacuolated, soap bubble-like cytoplasm and contain glycogen or mesenchymal mucin
chordoma
individuals between 20 and 40 years of age with pain, swelling, and limited joint movement
- tumor in the epiphyseal end of long bones (distal femur or proximal tibia)
- double bubble or soap-bubble on x-ray
- sheets of round to oval polygonal or spindle-elongated mononuclear cells that are interspersed with multinucleated osteoclast-like giant cells
giant cell tumor
men 30-60 years old
- usually located in the pelvis, spine, scapula, humerus, tibia, and femur
- low to intermediate grade and show moderate cellularity with small, round nuclei; the cells are occasionally binucleated
- abundant hyaline cartilage-type matrix
chondrosarcoma
anti-Jo-1 antibodies are associated with what?
dermatomyositis
- idiopathic inflammatory myopathy characterized by symmetric proximal skeletal muscle weakness and evidence of muscle inflammation
- Heliotrope eruption (erythematous eruption on the upper eyelids)
- Gottron papules (violaceous papules on the dorsal aspects of MCP/lP joints)
C1 esterase deficiency?
hereditary angioedema
- episodes of angioedema and severe laryngeal edema that could be life-threatening
CD40 ligand defect
hyper IgM
- B cells can’t receive proper activation signal -> no class switching (lots of IgM, nothing else)
- present with infections due to Pneumocystis jiroveci (fungi), cytomegalovirus, or Cryptococcus (fungi)
Male infants usually present with prolonged bleeding, petechiae, purpura, or abnormal bruising
- thrombocytopenia, eczema, and a humoral immunodeficiency due to decreased amounts of IgM
- increased risk for skin disorders, such as impetigo, cellulitis, furuncles, or abscesses. Otitis media, sinus infections, pharyngitis, and thrush
Wiscott-Aldrich syndrome (x-linked)
- low IgM, high IgA, IgE
X-linked disorder found primarily in males that presents early in childhood with recurrent infections with extracellular encapsulated bacteria
- patients will have an absence of B cells, however, normal T cell levels will be present
Bruton agammaglobulinemia
don’t forget that impetigo can also lead to acute post strep glomerulonephritis!!
:)
CD40L def?
hyper IgM, can’t class switch
defect in DNA double-strand break repair enzymes is commonly associated with what?
ataxia-telangiectasia (Louis-Bar syndrome)
- can lead to ataxia, spider angiomas, and immunoglobulin (Ig) A deficiency
Defective phagosome-lysosome fusion in neutrophils is seen in what?
Chediak-Higashi syndrome
- can present with recurrent pyogenic infections, along with partial albinism and peripheral neuropathy
lack of nicotinamide adenine dinucleotide phosphate oxidase results in chronic granulomatous disease, which decreases reactive oxygen species leading to recurrent infection with what organisms?
catalase-positive organisms (Staphylococcus aureus, Pseudomonas aeruginosa, Klebsiella pneumoniae)
competitive inhibitor of reverse transcriptase
- adverse effects include bone marrow suppression, hepatitis, and lactic acidosis
Zidovudine
disorder characterized by the excretion of urine that appears normal when fresh but turns dark brown or black if left standing or after alkalinization
- asx in childhood
- during the third decade, deposits of the brownish or bluish pigment become apparent, typically first in the ear cartilage and sclerae
alkaptonuria
- the dark color is caused by oxidation of homogentisate, which is why alkaptonuria has also been called black urine disease
complement protein required for neutrophil chemotaxis?
C5a
failure to thrive
- mental retardation
- microcephaly
- large facial bones
- gapped teeth/enamel defects
- eczematous rash
- hyperreflexia/increased muscle tone
- fair skin, urine with a “mousy” odor
PKU (AR)
- no phenylalanine hydroxylase = can’t form tyrosine
- must supplement tyrosine in diet!
what antibiotic inhibits DNA gyrase to block replication
fluoroquinolones
what TB med induces P450, thereby increasing metabolism of warfarin and decreasing international normalized ratio (INR) levels?
rifampin
- inhibits DNA-dependent RNA pol
what is the tx for malignant hypothermia?
- developing muscle rigidity, hypertensive urgency, and increased end-tidal CO2
dantrolene
- elfin face
- mental developmental delay
- well-developed verbal skills
- friendly to strangers
- high calcium levels d/t increased sensitivity to vitamin D
Williams syndrome
- microdeletion on Xsome 7 (elastin gene)
difference between FISH and karyotype?
FISH: Presence/absence of specific DNA sequence in a specific chromosome location
karyotype: gross abnormalities (trisomy)
- midfacial underdevelopment
- microcephaly
- delayed CNS development
- dysmorphic facial features: smooth philtrum, thin vermillion (lip) border, and small palpebral fissures
- height, weight, and head circumference likely at or below the 10% percentile (small for gestational age)
fetal alcohol syndrome
delayed closure of fontanelles, parietal/frontal bossing, enlargement of the costochondral junction (rachitic rosary), widening of the wrist, and lateral bowing of the femur and tibia (genu varum)
rickets
Askenazi jew with hypoglycemia, lactic acidemia (primary cause of the high anionic gap acidosis), hypertriglyceridemia, hyperuricemia, and hepatomegaly
von Gierke
- Inactivating mutations in the gene encoding glucose-6-phosphatase
- GSD type 1
dark urine due to increased porphyrins or porphobilin
- poorly localized abdominal pain (most common)
- may be accompanied by diarrhea and decreased bowel sounds
- decreased DTRs, tachycardia
acute intermittent porphyria (AD)
- defect in porphobilinogen (PBG) deaminase, an enzyme involved in heme synthesis
mutation causing increased purine synthesis?
- phosphoribosyl pyrophosphate synthetase
can cause gout!
- NOTE: neutrophils are primary cells responsible for inflammatory rxn
urase producing organisms that can precipitate struvite stones?
klebsiella, proteus
hemolytic anemia, jaundice, splenomegaly
- pigmented gallstones
hereditary spherocytosis
deficiency of homogentisic acid dioxygenase
- blue-black pigment builds up in connective tissue (sclera, ear cartilage)
alkaptnuria (AR)
virulence factor of N. meningitidis?
lipooligosacharide endotoxin
- release of endotoxin into blood causes rapid-onset sepsis
- endotoxin is in gram-NEG only!
virulence factor of S. pyogenes?
M protein
- prevents phagocytosis, inhibits complement binding, aids in epithelial attachment
virulence factor of S. aureus?
Panton-Valentine leukocidin (VPL)
- destroys leukocytes, causes tissue necrosis
- only found in most virulent strains of S. aureus (MRSA) that cause skin and soft tissue abscesses and necrotizing pneumonia
virulence factor of S. pneumoniae?
polysaccharide capsule
- prevents phagocytosis
round budding yeast with thick capsule?
cryptocacus neoformans
- causes meningoencephalitis in immunocomp
