Step 1 Musculoskeletal Part 3

Front 1

drug?

ae: used after transplants, can cause irreversible renal tubule damage, dec the kidney's ability to excrete uric acid

Back 1

Cyclosporine
-damage leads to inc serum levels of urate which can precipitate as monsoduium urate crystals in joints causing gout

Front 2

what is the following disease and type of genetic mutation is assoc with it?

->muscle weakness and/or cardiac disease beginning in midadolescence, does not usually have intellectual impairment

Back 2

Becker's muscular dystrophy

in-frame deletion
->maintain reading frame during translation process in dystrophin gene result in abn dystrophin protien that retains some level of fxn

Front 3

what is this diseaee and assoc type of genetic mutation?

->weakness in pelvic girdle and progresses superiorly, onset before 5 years old

Back 3

Duchenne's Muscular dystrophy
X-linked

type of genetic mutation: out of frame deletion
->deletion of dystrophin gene result in severly truncated or absent dystrophin protien, resulting in much more severe phenotype

Front 4

What is maternal imprinting and what disease is assoc with it?

Back 4

maternal imprinting:
-inactivation (methylation) of imprinted allele

disease: Angelman's syndrome

Front 5

what is paternal imprinting and what disease is assoc with it?

Back 5

paternal imprinting:
-inactivation (methylation)of imprinted allele

disease: Prader-Willi syndrome

Front 6

what is point mutations and what disease is an example of it?

Back 6

point mutation:
-mutation of a single base pair and have myriad downstream effects, including altered protien fxn

example: sickle cell anemia

Front 7

what is triple repeats and what disease are assoc wit this genetic mutation?

Back 7

triple repeats
-inc in severity with each generation, see disease at younger age = anticipation

examples:
huntingoton's disease = CAG repeat
Friedreich's ataxia= GAA
fragile X syndrome = CGG

X-linked diseases

Front 8

disease and txmt?

-when pt tx with general anesthetic to undergo sedation, pt has inc release of free Ca conc in pt skeletal muscle

what is the genetic inheritance of this disease?

Back 8

Malignant hyperthermia
-autosomal dominant disorder affecting skeletal muscles

->presents as muscular rigidity and hyperthermia when pt exposed to general anesthesia such as Halothane

txmt:
Dantrolene
->prevents calcium release from sarcoplasmic reticulum and relaxes muscles

Front 9

what disease is assoc with:

inc Ca levels
dec phosphorus levels
mild inc in alk phos levels

Back 9

primary hyperparathyroid ism

Front 10

what changes in Ca, Phosphours and Alk phos are assoc with osteoporosis?

Back 10

none, they are all with in normal limits and no lab abn are expected

Front 11

organism?

-bite by animal
-see purulence and inflammation at site of bite
-culture shows G(-) rod

Back 11

Pasturella multoceida

txmt: penicillin

Front 12

organism?

assoc with scratch of cat leading to chronic lymphadenitis mostly seen in young children

Back 12

Bartonella henselae

Front 13

organism?

-bit by dog
-cause fever, malaise, and hepatosplenomegaly in humans

Back 13

Brucella canis

Front 14

what is the cellular rxn to a pt developing a rash 2 days after playing in the woods?

Back 14

pt experiencing type IV or delayed-type hypersensitivity rxn

->requires prior exposure to trigger antigen and typically takes 24-48 hrs after new contact witha trigger

Type 4 hypersensitivity
-mediated by action of T lymphocytes which secrete cytokines and in turn recruit additional inflammatory cells to the contact

->T cell activation depends on interaction btwn cell surface T-lymphocyte receptor and antigen MHC comple on antigen presenting cell

Front 15

What disase assoc with following sx and what Ab is assoc?

>symmetric proximal weakness
>purple rash over eye lid = heliotrope rash
>elevated serum muscle enzyme
>myopathic changes on electromyography
>muscle biopsy abn in absence of histopathologic sign

Back 15

dermatomyositis
->Ab = Anti--Jo-1

heliotrope rash is highly specific for dermatomyositis

Front 16

disease assoc with anti-IgA autoantibodies

Back 16

RA

Front 17

diesease assoc with anti-microsomal auto antibodies

Back 17

Hashimoto's thyroiditis

Front 18

disease assoc with anti-mitochondrial auto antibodies

Back 18

primary biliary cirrhosis

Front 19

what structure is damaged if someone breaks the neck of the fibula?

Back 19

common peroneal nerve

Front 20

what ae is described in the following sx and what drugs are assoc with it?

immune-complex-mediated hypersensitivity rxn

->involves mucutanious surface and is potentially fatial

Back 20

this is a description of Steven-Johnson syndrome

lamotrigine
phenytoin
ethosuximide
carbamzepine

CLEP

Front 21

what drug used to tx ptwith tonic-clonic or gland mal seizures, which is thought to act on voltage-sensitive sodium channels?

Back 21

Lamotrigine

ae: stevens johnson's syndrome
->an immune-complex-mediated hypersensitivity rxn involving mucocutaneious surface and potentially fatal

Front 22

drug?

-benzodiazepine that acts as anxiolytic and naticonvulsant

moa: inc frequency of GABA channel opeining

->used to tx absence and myoclonic seizures

ae: ataxia, sedation, dizziness

Back 22

clonazepam

Front 23

drug?

anticonvulsant that is used as part of combo drug to tx seizures and neuropathic pain

ae: sedation dizziness, ataxia, fatigue

Back 23

Gabapentin

Front 24

drug?

anticonvulsant that is used for seizuress and for migraine prophyalaxis

->act on Na channels in neurons

ae: psychomotor slowing, sedation, renal stones

Back 24

Topiramate

Front 25

drug used for a wide variedy of seizures

-thought to affect levels of GABA in brain

severe ae:
->hepatotoxicity, pancretitis, and teratogenicity

Back 25

Valproic acid

Front 26

why does an the following hernia occur in men?

-nonpainful, reducible buldge in right groind that worsens when lifting

Back 26

due patent processus vaginalis

Front 27

what muscles allow a pt to say ah and what is the embryologic orgin of these muscles?

Back 27

muscles that allow pt to say ah are muscles that elevate the palate which are
-> stylopharyngues - from brachial arch 3 - innervatedby CN9 (glossopharyngeal)

-> levator veli palantini - from brachial arch 4 - innervatred by cn 10 (vagus nerve)

Front 28

if a pt has damage to lateral collateral ligament and post cruciate ligament, how did the injury occur?

Back 28

being kicked on medial aspec of knee

Front 29

what changes in

alk phos
Ca
phosphate

are seen in pt with Paget's disease?

Back 29

Phosphate - stays normal
Ca - normal or slightly elevated
alk phos - does not exceed 10x upper limit of 4 mg/dL

Front 30

what is the following and what other disease(s) is it assoc with?

-several red, tender, subcutaneious nodules from ant lower leg

histology:
panniculitis (inflammation of subcutaneous fat) with widening of tissue septa from edema, inc neutrophils and fibrin exudation

Back 30

pt has erythemia nodosum
->inflammation of subcutaneious fat often accompanied by fever and malaise

assoc with:
-inflammatory bowel disease - Crohns's disease or UC
-sarcoidosis
-certain drugs - oral contraceptives and sulfonamides
-certain neoplasms
-certain infections

Front 31

diesase and other disease assoc with it?

nonpruritic inflammatory skin disorder

Back 31

psoriasis
-nonpruritic inflammatory skin disorder assoc with:

arthritis
enteropathy
spondylitic disease
certain HLA including: HLA-B27, HLA-13, HLA-17

Front 32

disease and cause?

-pt present with pain in leg
-fever
-unable to stand on lef
-organism found in blood culture

Back 32

osteomyolitis
->most common cause, Staph aureus-> G(+) cocci in cluster

Front 33

organism?

G(+) cocci in chains assoc with pharyngitis, impetigo, scarlet fever and cellulits

Back 33

Strep pyogenes

Front 34

organism assoc with acute sinusitis and otitis media?

Back 34

strep pneumo = G(+) cocci in pairs

Front 35

cause of disease?

-involuntary mvmt of upper limbs
joint swellings
1st - left knee
few hrs later - left hip then couple hrs later right shoulder

pmh - sore throat 3 weeks ago

pe: fever and several nodules under sking of elbows

Back 35

pt has rheumatic fever
->autoimmune mulitsystem disease present several weeks after strep pyogenes (group A beta-hemolytic streptococci)

-pt has:
>migratory polyarthritis of large joints
>subcut nodules under skin overlying bony prominences

Front 36

dx:

toddler with
-multiple fractures
-bruised swollen joints
-multiple petichiae
-> x-ray shows:
metaphyseal thicking and fragmentation aaroudn epiphyseal plates

labs:
RBC count = 3.5 millin/mm3
WBC count = 2500 /mm3
MCV = 70
Hb conc = 33%

Back 36

pt has scurvy, defiency in vit c)(ascorbic acid)

Vit C has 3 roles:
1. hydroxylation of Lys and Pro residules in collagen
2. absorption of iron by reducing it in to a ferrous state
3. acting as antioxidant

anemia
-result of combo of poor iron uptake and blood loss from vessel leakage

vessel leakage
-result of malformed collagen, causes petechiae

Front 37

disease?

hereditary disorder caused by venule and cappilary malformation that tend to bleed in the skin and mucosa membrane

Back 37

Osler-Weber-Rendu syndrome
->hereditary hemorrhagic telangicetisia
-> AD

Front 38

what organism causes the following sx and what causes its transmission and what is the source?

pt went camping
PE:
-> well demarcated skin lesion with a black base on arm
-> small, itchy bump at site of lesion

Back 38

Francisella tulerensis -> G(-) coccobacilus
->ulceroglandular tularemia

transmission: tick or deerfly bit

source: deer or rabits

can be transmitted through inhallation of aerosols and considered agent ofbioterrorism