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85 Cards in this Set

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MOA of Hydroxyurea
Inhibits ribonucleotide reductase
Drugs which inhibits ribonucleotide reductase
Hydroxyurea
Drug which blocks de novo purine synthesis
6-mercaptopurine
Drugs which inhibits thymidylate synthesis
5-FU
Manifestations of Lesch-Nyhan Syndrome
Retardation
Self-mutilation
Aggression
Hyperuricemia
Gout
Choreoathetosis
Function of Peroxisome
Catabolism of long fatty acids and amino acids
Amino acids necessary for purine synthesis
Glycine
Aspartate
Glutamine
Amino acid sequnce at 3' end of every tRNA
CCA
RER in neurons is known as???
Nissl bodies
Responsibility of free ribosomes
Make cytosolic and organellar proteins
Drugs affecting micotubule?
-Bendazoles (vs helminths)
Griseofulvin (vs fungi)
Vincristine/Vinblastine (vs caner)
Paclitaxel (vs breast canver)
Colchicine (vs gout)
GFAP stain indicates which cell
Neuroglia
Desmin stain indicates which cell
Muscle
Action ouabain?
Inhibits NaK by binding K+ site
Stage of synthesis affected by osteogenesis imperfecta
Glycosylation in the ER so cannot form procollagen
Difference in elastin and collagen?
Elastin is rich in proline and glycine which are no glycosylated
Test used for detecting SNPs
Microarray
Test used to identify deletion or genetic anomaly at molecular level
Flourescent In Situ Hybridization
Diseases causing marfanoid body habitus and why?
Marfan's
MEN 2B
Homocystinuria

Locus of heterozygosity: mutations at different loci can produce the same phenotype
Manifestation of Angelman's Syndrome
Mental retardation
Seizure
Ataxia
Inappropriate laughter
Manifestation of Prader-Willi Syndrome
Mental retardation
Hyperphagia
Obesity
Hypogonadism
Hypotonia
X-linked dominant disorder
Hypophosphatemic Rickets

Presents as Rickets w/ increase phosphate wasting at the renal tubule
Cysts only in the medulla of the kidney should tip you off to what disease ???
Medullary sponge kidney

Predisposes to kidney stones
Cardiac manifestation of ADPKD
MVP
Chr of ADPKD
16
Chr of Familial Adenomatous Polyposis
5 (APC gene)
Manifestations of Osler-Weber-Rendu
Telangiectasia
Recurrent epistaxis
Skin discoloration
AVMs
Manifestations of von Hippel-Lindau
Bilateral renal cell carcinoma
Hemangioblastoma of retina/cerebellum/medulla
Pathogenesis of von Hippel-Lindau
Deletion of VHL gene on chr 3 causes constitutive expression of HIF and activation of angiogenic growth factors
Purpose of giving N-acetylcysteine to patients with CF
cleaves disulfide bonds w/i mucous glycoproteins to loosen mucus plugs
Molecular cause of CF
Mutated protein is abnormally folded and degraded prior to reaching cell surface.
How to diagnose muscular dystrophies
Increased CPK
Muscle Biopsy
Results of pregnancy quad screen in Down Syndrome
Decreased aFP and estriol
Increased Inhibin A and BhCG
Congenital microdeletion of short arm of Chr 5
Cri-du-chat Syndrome
Manifestations of Cri-du-chat syndrome
Microcephaly
Mental retardation
High pitched crying (cry of the cat)
Epicanthel folds
VSD
Congenital microdeletion of long arm of CHr 7
Williams Syndrome
Manifestations of Williams Syndrome
Elfin facies
Mental retardation
HyperCa2+
Well developed verbal skills
CV probelms
Friendly with strangers
Function of lamellar bodies of Type 2 pneumocytes
Produce surfactant
Major component of surfactant
dipalmitoyl phosphatidilcholine
Tracheal deviation in resorptive atelectasis
Ipsilateral
Hormones responsible for surfactant synthesis
Cortisol and thyroxine produce

insulin inhibits
Equation for Respiratory compensation in metabolic acidosis
Winters: 1.5 x HCO3- + 8 +/- 2
Most common site of fetal hydronephrosis
Ureteropelvic junction
Embryologic formation of glomerulus to DCT
Interaction of metanephric mesenchyme w/ uteric bud to induce differentiation and formation
Structures arising from the ureteric bud
Ureter
Renal pelvis
calyces
Collecting duct

Canalized by wk 10
Renal structure which contributes to male genitalial system
Mesonephros
Cause of S4 heart sound
Ventricular hypertrophy

Atrium must push against stiff wall
Immune cell responsible implicated in sarcoidosis
CD4
MOA of Amphotericin B
Binds ergosterol and forms membrane pores
Major clinical use for amphotericin B
Serious, systemic fungal infections
Toxicity of amphotericin B
Fever/chills
Hypotension.
Arrhythmia
Anemia
Phlebitis
Nephrotoxic (supplement K and Mg
Topical amphotericin B
Nystatin
MOA of Azoles
Inhibits fungal sterol synthesis by inhibiting P450 enzyme
Use of fluconazole
Cryptococcal meningitis in AIDS b/c it crosses BBB

Candidal infection
Azoles for topical fungal infections
Clotrim-
Micon-
Use of Ketoconazole
Blasto
Cocciodioides
Histo
Candida
Hypercortisolism
MOA of flucytosine
Inhibits DNA syn by conversion to 5-FU by Cytosine deaminase
Use of flucytosine
Coadmin w/ ampho in systemic infections
MOA of caspofungin
inhibits cell wall syn by inhibition of beta-glucan syn
Use of caspofungin
Invasive candida
MOA of terbinafine
Inhibits fungal enzyme squalene epoxidase
Use of Terbinafine
Dermatophytoses

(especially onychomycosis (fungal inf under the nail)
Tox of terbinafine
visual disturbances
MOA of Griseofulvin
Interferes w/ microtubule function.

Deposits in keratin tissue
Use of griseofulvin
Dermatophytes
MOA of chloroquine
Blocks plasmodium heme polymerase
Virulence factor of TB
Cord factor
Function of Cord Factor in TB
Inactivate neutrophils
Damage mitochondria
Induces release of TNFalpha
Function of sulfatides in TB
inhibit fusion of lysome w/ phagosomes
What does Wax D of TB do?
Acts as an adjuvant to activate protective immune response
What is scrofula
Lymph node tuberculosis
Cells in Infectious Mononucleosus
Abnormal lymphocytes

CD8+ T cells
Kallman Syndrome
Defective development of GnRH cells and olfactory placode.

Autosomal dominant

Decreased GnRH FSH LH testosterone
Strawberry hemangioma
Benign capillary hemangioma of infancy.

Appears in first few weeks of life.

Grows and rapidly and regresses spontaneously at 5 - 8 years of age
Cherry hemangioma
Benign capillary hemangioma of the elderly

Does not regress

Frequency increases with age.
Pyogenic granuloma
Polyploid capillary hemangioma which can ulcerate and bleed.

Assc w/ trauma and pregnancy
Glomus tumorq
Benign, painful, red-blue tumor under fingernails

Arises from modified smooth muscle cells of glomus body
Bacillary angiomatosis
Benign capillary skin papules found in AIDS patients caused by Bartonella henselae
Drugs causing disulfram-like reaction
Metronidazole
Certain cephalosporins
Procarbazine
1st gen sulfonylureas
Drugs causing fat redistribution
Glucocorticoids
Protease inhibitors
Specific gravity of transudate
> 1.020
Specific gravity of exudate
< 1.012
Characteristics of cardiogenic shock
Low output failure
Decreased CO
Increased TPR
Cold, clammy patient
Extrinsic pathway of apoptosis
Express CD95 (fas)

or

Lymphocytes secrete granzyme and perforin
Nerve implicated in cough reflex
Internal laryngeal of CN X

Near the piriform recess