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DAY 15
DAY 15
What drug is a derivative of 6-mercaptopurine?
Azathrionine
Causes phocomelia
Thalidomide
Immunosupressant that is Nephrotoxic in 75% of patients
Cyclosporine

preventable with?
Mannitol diuresis
Side effect of acne, HTN, osteoporosis, hyperglycemia and immunosuppression --> infection
Glucocorticoids like prednisone
inhibits secretion of IL-2 and other cytokines
Tacrolimus and Cyclosporine
Alkylating agent that requires bioactivation in the liver
Cyclophosphamide
inhibits Dihydrofolate reductase
Methotrexate
What arachidonic acid product opposes prostacyclin?
Thromboxane -- proTHROMBOTIC, vasoconstriction, bronchoconstriction

Prostacyclin does the opposite
Causes hemolytic anemia in G6PD patients
Sulfa drugs, Fava beans, Dapsone, Primaquine, Isoniazid, High Dose Aspirin, Ibuprofen, Nitrofurantoin, Naphthalene
What enzyme is deficient in fructose intolerance
Aldolase B
WHat enzyme deficient in Essential fructosuria
Fructokinase
What enzyme deficient in Classic Galactosemia
Galactose -1-phosphate Uridylyltransferase
What might you see in a 1st trimester fetus with Down Syndrome
increased nuchal translucency
Which protozoa matches description:
Diarrhea in campers and hikers
Giardia Lamblia
Which protozoa matches description:
Itchy Vaginitis
Trichomonas
Which protozoa matches description:
Sandfly is the vector
Leishmania
Which protozoa matches description:
Ixodes tick is the vector
Babesia
What else uses this vector?
Burrelia Borgdorferi
Which protozoa matches description:
Anopheles mosquito is the vector
Plasmodium
Which protozoa matches description:
Sodium Stibogluconate is the treatment
Leishmania
Which protozoa matches description:
Suramin or melarsoprol is treatment
Trypanosoma
Which protozoa matches description:
Maltese cross seen in RBC
Babesia
Which protozoa matches description:
treat with metronidazole
Giardia Entamoeba or Trichomonas
Which protozoa matches description:
Severe diarrhea in AIDS patients
Cryptosporidium
What is the result of a glycolytic enzyme deficiency?
RBC hemolysis
What is the result of a deficiency in Pyruvate dehydrogenase?
Neurologic defects
What cofactors required for pyruvate dehydrogenase
Tender Loving Care For No One

Thiamine pyrophosphate, Lipoic acid, CoA, FAD, NAD,

What other enzyme requires these cofactors?
Alpha ketoglutarate dehydrogenase
How does the presentation of a right parietal lobe lesion differ from a left parietal lobe lesion
non dominant(right) lesion presents with hemispatial neglect syndrome

dominant(left) lesion presents with Gerstmann syndrome(agraphia, acalculia, finger agnosia, L-R disorientation)
What disorder is a/w internuclear ophthalmoplegia?
Multiple Sclerosis

Where is the lesion?
Medial Longitudinal Fasciculus
Symptoms of fructosuria
benign, asymptomatic since fructose cannot enter cells
fructose intolerance causes what?
F1P accumulates causing decrease in available phosphate which results in inhibition of glycogenolysis and gluconeogenesis
What sugars do you avoid in fructose intolerance?
fructose AND sucrose(glucose+fructose)
Presents with failure to track objects or develop a social smile
Galactokinase deficiency
Symptoms?
Galactose in blood/urine, but more importantly INFANTILE CATARACTS
What sugars do you avoid in Classic Galactosemia?
Galactose and lactose(glucose + galactose)

symptoms?
infantile cataracts with mental retardation
What causes infantile cataracts? Why?
Both galactokinase deficiency and classic galactosemia due to galactitol accumulating in the lens
What is another name for catalase?
Glutathione peroxidase
What does it do?
destroys hydrogen peroxide and consumes glutathione
Hyperacute rejections
Ab mediates(Type II)
Chronic rejection -
T-cell and antibody mediated vascular damage where MHC I from donor are perceived as MHC I from self presenting non-self antigen.

fibrosis of?
Graft tissue(like small airways of lung--NOT ALVEOLI)
Acute rejection
Cell mediated(Type IV), reversible with?
cyclosporine and OKT3(CD-3 Ab)
Cyclosporine MOA
inhibits calcineurin, preventing production of IL-2 and its receptor
Tacrolimus MOA
binds to FK binding protein which inhibits secretion of IL-2 and other cytokines
Sirolimus MOA
binds mTOR and inhibits T-cell proliferation in response to IL-2
Toxic effects increased by allopurinol
Azathioprine because active metabolite is metabolized by..?
xanthine oxidase
Results of pregnancy quad screen in down syndrome
decreased AFP,
decreased estriol,
increased beta-hCG,
increased inhibin A
What type of down syndrome is not maternally associated?
down syndrome from mosaicism. Two cell lines due to defect during early embryogenesis
What diseases demonstrate locus heterogeneity?
Marfan's syndrome, MEN 2B, homocysteinuria all cause Marfanoid habitus.

Albinism
Pleiotropy
1 gene, many problems

PKU is a good example
What genetic disease is X-linked dominant?
hypophosphatemic rickets or vitamin d resistant rickets. Increased phosphate wasting at proximal tubule results in ricket like presentation.
What mitochondrial diseases?
mitochondrial myopathies and Leber's hereditary optic neuropathy - acute loss of central vision due to egeneration of retinal ganglion cells and axons.
bilateral absence of vas deferens
CF
Treatment?
N-acetylcysteine which cleaves disulfide bonds within mucous glycoproteins
DAY 14
DAY 14
Most common primary malignant bone tumor of children
Osteosarcoma
Most common benign bone tumor
Osteochondroma
11;22 translocation
Ewing Sarcoma
Soap bubble appearance on x-ray
Giant Cell tumor of bone
onion skin appearance on bone
Ewing Sarcoma
Codman's triangle on xray
Osteosarcoma
MCC Hypocalcemia
deficiency of PTH or deficiency of Calcium

Insufficient calcium intake, or Vit D deficiency(more common)

Acute Pancreatitis or
Parathyroid disease,

What can cause Vit D deficiency?
Chronic Renal Disease
Pseudohypoparathyroidism
Kidneys are unresponsibe to PTH
Wernicke's Encephalopathy
Confusion, Ophthalmoplegia, Ataxia

Korsakoff Syndrome?
Memory Loss, Personality Changes, Confabulation
Side effect: Agranulocytosis
Clozapine, Carbemazapine, Colchicine, PTU/Methimazole
Side effect: Osteoporosis
Corticosteroids and long term heparin use
Side effect: Pulmonary Fibrosis
Bleomycin, Busulfan, amiodarone
Side effect: Gynecomastia
Some Drugs Create Awesome Knockers

Spironolactone
Digitalis
Cimetidine
Estrogen
Ketoconazole
Chronic Alcohol/MJ
Side effect: Photosensitivity
SAT
Sulfonamides
Amiodarone
Tetracycline
Side effect: Drug induced lupus
Sulfonamides, Hydralazine, Isoniazid, Procainamide, Phenytoin
4 Cardinal features of Parkinsons
Tremor(pill rolling), Akinesia, Rigidity(Cogwheel), Lewy Body Dimentia

Lewy Body Dementia
--Visual Hallucinations
--Repeated falls
--Syncope
HTN cutoff

Where does the thoracic duct drain?
140/90

At the junction of the left subclavian and internal jugular
Organisms causing endocarditis
Staph Aureus(most common)
Staph Epidermidis
Viridens Strep
Enterococci

Culture negative
Haemophilus
Actinobacillus
Cardiobacter
Eikenella
Kingella
Common locations of tophi in gout
External Ear
Olecranon Bursa
Achilles Tendon

Acute attacks occur commonly after?
A large meal or alcohol consumption
Anti-TSH receptor antibodies
Grave's Disease
Antimitochondrial antibodies
Primary Biliary Cirrhosis
anticentromere antibodies
CREST Scleroderma
antihistone antibodies
Drug induced lupus
anti smooth muscle antibodies
Autoimmune Hepatitis
Which lymph node does cancer in the stomach met to?
Celiac nodes
Which lymph node does cancer in the duodenum/jejunum?
Superior Mesenteric Nodes
Which lymph node does cancer in the sigmoid colon met to?
colic --> Inferior mesenteric nodes
Which lymph node does cancer in the rectum met to?
internal iliac --> inferior mesenteric
Which lymph node does cancer in the Testes met to?
Para-aortic(retroperitoneal)

Scrotum?
Superficial Inguinal