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WELL > Half mock 6/16/23 > Flashcards

Half mock 6/16/23 Flashcards

1
Q

pathogenesis of chediak higashi syndrome

AR

A

mutation in the lysosomal trafficing regulator LYST that leads to defective microtubule polymerization and impaired phagolysosome formation.

this causes lysosome degranulation to be impaired and not able to destroy the bacteria that is inside of the lysosome.

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2
Q

symptoms of chediak higashi syndrome

A

recurrent pus forming infections (abcess, pyroderma gangrenosum)

light colored silver gray hair

light blue eyes

albinism

mild coagulation defects

albinism (oculocutaneous)

neurodegeneration

(in childhood)

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3
Q

why does chediak higashi syndrome present with albinism and light blue eyes

A

albinism: impaire transfer of enlargent pigment granules to in melanocytes to keratinocytes

blue eyee: iris depigmentation

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4
Q

what is the pathogonomonic peripheral smear of chediak higashi syndrome

A

WBC (neutrophils) with large round to oval purple colored intracystoplasmic granules

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5
Q

Ataxia-telangiestasia pathogenesis

A

a mutation in ATM gene leads to defective DNA repair

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6
Q

symptoms of Ataxia telangiectasia

A

Cerebellar ataxia
angiomas
IgAAAAA deficiency
RESPIRATORY TRACT INFECTIONS

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7
Q

Chronic granulomatous disease pathogenesis

A

a lack of normal NADPH oxidase activity leads to decreased ROS and respiratory burst in neutrophils

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8
Q

symptoms of chronic granulomatous disease

A

recurrent infections with catalase positive organisms and impaired wound healing

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9
Q

what is the most common inheritance pattern of CDG

A

X-linked (boys)

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10
Q

pahtogenesis of wiskott aldrich syndrome

A

It is an adaptive and innate immune deficiency resulting from reduced activity of the WAS protein, which links signaling pathways to actin cytoskeleton reorganization. This leads to defective cytoskeleton reorganization in leukocytes and platelets and results in impaired formation of immunologic synapses between T cells and antigen-presenting cells. B cell, natural killer cell, and phagocytic cell functions are also impaired, and neutropenia and myelodysplasia occur in some patients.

no pus formation due to impairement of pus formation

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11
Q

symptoms of wiskitt aldrich

A

X linked recessive disorder whith thrombocytopenia, infections and eczema

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12
Q

symptoms of Digeorge syndrome

A

absent thymic shadow on chest x-ray
congenital heart defects
dysmorphic facies ( cleft palate)
hypocalcemia

CATCH22

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13
Q

leukocyte adhesion deficency type 1 symptoms

A

absent pus, late seperation of the umbilical cord

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14
Q

x-linked (bruton) agammaglobulinemia symptoms

A

absent/ scant lymph nodes and tonsils with recurrent bacterial and enterovirus infections

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15
Q

osteoporotic fractures

A

fragility fractures that occur from a fall from standing height or less; it occurs in the elderly, people on glucorticoid therapy, low body weight, cigarrette smoking, rheumatoid etc.

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16
Q

what does the X ray of an osteoportic fracture look like

A

anterior wedging of one or more vertebrae, biconcave deformitis and compression fractures

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17
Q

what is the most common type of osteoporotic fracture and where does it occur

A

vertebral compression and they occur at the mid thoracic junction or the thoracolumbar junction

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18
Q

symptoms of a veterbral compresion fracture

A

acute back pain after minor trauma (lifting/sidebending)

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19
Q

what is spondylolysis ?

A

a unilateral or bilateral defect in the vertebral pars interarticularis (usually in the lumbar region)

acquired bone fatigue will cause microtrauma to the segment that causes acute low back pain.

**scotty dog on Xray

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20
Q

what is spondylolisthesis?

A

when there are bilateral spondylolysis defcts the vetebral body and pedicles slips anteriorly

pesrsistent back pain and lack of healing

*stepladder sign on X ray

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21
Q

what pathology shows sequestrum and invulcrum on plain fil X-rays

A

vertebral osteomyelitis

sequestrum (avascualr bone) invulcrum (new bone)

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22
Q

pathogens in osteomyelitis can reach the bone in what three routes

A

hematogenous , inoculation from trauma or spinal surgery, and continguous spread from adjacent soft tissue

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23
Q

MCC of vertebral osteomyelitis

A

staphylococcous aureus

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24
Q

osteoid osteoma

A

benign bone forming tumor that has a small radiolucent nidus <2cm that can are in the cortex of long bones but can infiltrate the vetebrae and cause pain that is worse at night will improve with NSAIDS

sclerotic regions can surround the osteoid nidus

osteoid blastoma >2cm usually always in the vertebrae and does not respond to NSAIDS

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25
Q

what is ketamine

A

a dissociative anesthetic that has a rapid onset and short duration it is a N-methyl D aspartate receptor antagonists (NMDA) and activates opiod receptors producing pain relief

preferred if patients have bronchospasm, astham or for emergency intubation

stimulates sympathetic outflow and can cause hypertension and increased cardiac output

anesthetic and analgesic

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26
Q

side effects of ketamine

A

hallucinations/vivid dreams that can persists for several days

depression

dissociative state

diplopia, increased intraocular pressure

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27
Q

contraindications to using ketamine

A

uncontrolled HTN, myocardial infarction, anuerysyn, aortic dissection, schizophrenia

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28
Q

what does a dissociative anesthetic drug mean

A

production of analgesia, amnesia and sedation without loss of consciousness

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29
Q

MOA of propofol

A

GABA agonists that works as an anesthetic and a antiemeetic but can respult in respiratory and cardiovascular depression

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30
Q

MOA of propofol

A

GABA agonists that works as an anesthetic and a antiemeetic but can respult in respiratory and cardiovascular depression

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31
Q

what is the conversion pathway from tyrosine to dopamine and why cant dopamine be supplemented by itself in parkinsons disease

A

tyrosine is converted to L dopa then L dopa is converted to dopamine

dopamine cannot cross the BBB so it is ineffective to exogenous supplement dopamine in the treatment of parkinsons

give LEVODOPA so that it can cross the BBB and then be converted

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32
Q

why is carbidopa given in parkinsons therapy

A

it inhibits dopa carbboxylase and allows for more L-Dope to enter the CNS without being convereted peripherally to dopmaine before it crosses the BBB

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33
Q

serotonin is derived the AA _

A

tryptophan

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34
Q

obers test

A

flex the kee and abduct the hip and then letting it go allowing the hip to adduct. (IT band pathology)

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35
Q

the axillary nerve innervates the _ and function in _

A

deltoid

abduction of the shoulder

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36
Q

the radial nerve controls _

A

extension at the elbow, wrist and fingers

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37
Q

abduction of the second through fifth digits of the had is accomplished by

A

doral interosseous muscles ( ulnar nerve)

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38
Q

adduction of the thumb is accomplished by?

A

adductor pllicius muscle that is innervated by the ulnar nerve

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39
Q

wrist flecion is accomplished by what 3 muscles

A

flexor carpi radialis, flexor carpil ulnaris and palmaris longus

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40
Q

index fingers moving superior and the fifth fingers are moving inferiorly

A

inferior vertical strain

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41
Q

non physiological strain patterns

A

compression, lateral, and vertical

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42
Q

non physiologic cranial strain patterns are named for?

A

the motion occuring at the basphenoid relative to the occiput

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43
Q

an inferior vertical strain will have the sphenoid in _

A

extension and the occiput in flexion

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44
Q

a superior vertical strain will have the sphenoid in _

A

flexion and the occiput in extension

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45
Q

both index fingers moving to the left

A

right lateral strain

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46
Q

physioloigcal strains are named for

A

the side of the most superior greater wing of the sphenoid and the side of convexity ( torsion and SBR)

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47
Q

non-physiological strains are named for

A

what occurs at the SBS (sphenobasilar synchondrosis)

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48
Q

somatization

A

experiencing thoughts or feelings as body sensations

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49
Q

reaction formation

A

turing unnacceptable feelings into their opposite ones

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50
Q

altrurism

A

preforming positive acts as a way to cope with painful feelings or thoughts

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51
Q

sumblimations

A

expressing uncomforatble thoughts are feelings in useful manner

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52
Q

distortions

A

reshaping of external reality to suit inner needs )sustained delusional feelings or superiority or entitlement)

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53
Q

gout is precipitated by acute changes in?

A

a persons serum uric acid

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54
Q

risk factors for gout

A

pascific islander ethnicity, diets rich in meat and seafood, alcohol, sodas and fruit juices, obesity, males

loop diuretics

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55
Q

the precipitation of gouty crystals is enhanced in _ temperatures

A

low. (seen in winter, when sleeping)

urate crystals in the synovial fluid (negatively birefringent to polarized light)

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56
Q

colchicine

A

treats acute gout by binding and stablizing tubulin to inhibit polymerization (imparing leukocyte migration to the affected site)

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57
Q

imaging findings in gout

A

subcortical bone cysts with overhanging edges of bone

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58
Q

prevention of gout

A

allopurinol (xanthine oxidase inhibitor)

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59
Q

Lesh-Nyhan SYndrome

A

Hypoxanthine-guanine phosphoribosyl transferase (HGPRT) deficiency which leads to the buildup of hypoxanthing and eventually gout.

inborn error of metabolism with cognitive disability, self mutilating and agressive behavior

increase in PRPP (goes back to xanthine and uric acid)

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60
Q

what is the purine salavage pathway used for

A

essential in creating nucleotides from degredation products of DNA and RNA

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61
Q

symptoms of lesch nyhan syndrome

A

developmental delay
striatal dopaminergic damage
nail biting
gouty arthritis
urate crystals (in low pH)- rhomboid shaped cystrals

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62
Q

urate stones

A

radiolucent

urine alkalnization is a treatment

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63
Q

anterior chapman point for appendix

posterior chapman point for appendix

A

anterior: right 12th rib

posteiror: lamina of TP T11-T12

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64
Q

rosving test

A

indicative of peritoneal irritation

pain in the RLQ with palpation in the LLQ

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65
Q

chapman point for the gonads

A

pubic bone

testicular cancer, hydroceles, varicoceles and epididymis

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66
Q

chronic rejection

A

months to years after transplantation with a slow decline in the organs function

T and B cell response with a chronic inflammatory response with an overproduction of CD4+ cytokine release leading to collage infiltration and fibrosis of the graft, atrophy and proliferation of smooth muscle

**intersitial fibrosis

type II and type IV HSR

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67
Q

CD8+ T cell infilatration into the kidney parenchyma is seen in _ mistmatches and can contrivute to _ rejection

A

HLA

acute

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68
Q

hyperacute rejections involves

A

preformed antibodies in the recepient that reconizes antigens in the donors graft

activates complement, fibrin infiltration and acute thrombosis leading to inflammation and necrosis

type II hypersensitivty

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69
Q

graft vs host disease

A

grafted T cells reject host cells

type IV hypersensitivity

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70
Q

disseminated gonococcal infection

A

migratory polyarthritis, tensynovitis and dermatitis (fever, fatigue)

treat with certriaxone and a tetracycline (doxy) for suspected coinfection with chlamydia

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71
Q

ehlers danlos vascular form is associated with

A

berry anurysems in the circle of willis

mitral valve prolapse

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72
Q

biventricular hypertrophy on ECG

A

short PR with giant QRS complexes in all leads

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73
Q

infantile form of acid alpha glucosidase aka acid maltase deficiency aka POMPE disease

A

def in lysosomal GAA (alpha 1-4 glucosidase) which leads to the accumulation of glycogen in lysosomes and in the cytoplasm

causes myopathy in multiple systems, affects the heart, hypotonia, muscle reakness, respiratory distress, cardiomegaly in childhood

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74
Q

small cell lung cancer is _ located

A

centrally located

associated with paraneoplastic syndromes

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75
Q

meothelioma is in the _ and what are its characterisics

A

in the pleura

prolonged asbestosis exposure with pleural effusions and pleural plaques

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76
Q

paraneoplastic associated with small cell lung cancer

A

cushing syndrome, hyponatremia (SIADH) and lambert eaton syndrome

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77
Q

adenocarcinoma is located _ and what are the characteritics

A

peripherally located

finger clubbing, non smokers

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78
Q

squamous cell carcinoma is located _ and what are some characteristics

A

located cnetrally

cavitations with paraneoplastic syndtome of hypercalcemia )PTHrp_

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79
Q

DKA has what blood gas

A

metabolic acidosis with respiratory compensation

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80
Q

femoral triangle

superiorly:
medially:
laterally:
floor:

A

superiorly: inguinal ligament
medially: adductor longus
laterally: sartorius
floor: iliacus

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81
Q

what is the arragnement of neurovascular structures in the femoral triangle

A

NAVeL (lateral to medial)

nerve, artery, vein, lymphatics

deep inguinal lymph nodes

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82
Q

confidence interval

A

range of values that has a high probaility of containng the true mean of the entire population

CI of 95% indicated that there is a 95% chance the CI contains population mean.

if it overlaps with 1 it is not statistically significant

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83
Q

a 95% confidence interval is equal to a _ P value

A

0.05 p value

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84
Q

a 90 percent CI is equal to a _ p value

A

0.1 p value

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85
Q

familial dysbetalipoproteinemia occurs of a defect in _

A

apolipoprotein E

increase in chylomicron remnants, VLDL, IDL and LDL

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86
Q

muscarinic affects can be remembered with the mnemonic DUMBBELSS which is?

A

D- diarrhea (increased gastric motility)
U- urination (contract detrusor muscle)
M- miosis (pupillary sphinter contraction
B-bronchspasm
B- bradycaradia
E- emesis
L- lacrimation
S- sweating
S-salivation

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87
Q

what is bethanechol

A

a selective muscarinic aceytlcholin receptor agonist that is used to treat acute urinary retention. It stimulates M3 receptors and activates exocrine glands resulting in lacrimation, salivation, and diaphoresis

it is resistant to acetylcholinesterases

It is important to note that in most clinical settings, bladder catheterization is the first-line treatment for acute urinary retention because of the potential side effects of bethanechol.

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88
Q

what is atropine and what are its adverse effects

A

this is a muscarinic antagonist used to treat bradycardia

it causes the opposite of dumbells and can lead to a series of adverse effects like :

Hot as a hare, Fast as a fiddle, Dry as a bone, Red as a beet, Blind as a bat, Mad as a hatter, and Full as a flask (urinary retention)

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89
Q

what are the causes of down syndrome

A

meiotic nondisjunction or a robertosnian translocation

  • increased maternal age
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90
Q

in utero trisomy 21 is characterized by?

A

low AFP, low unconjugated estriol and high HCG and inhibin A on quad screen

nuchal thickening,

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91
Q

most common complications of down syndrome include

A

endocardial cushion defect, early onset alzhemier disease, leukemia (ALL), hirschprung disease, AA instability

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92
Q

what is hirschsprung disease

A

failure to pass first meconium secondary to a lack of NCC migration to the colon in utero

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93
Q

abdominal wall and neural tube defects quad/triple screening tests

AFP:
HCG:
Estriol:
inhibin:

A

AFP: high
HCG: normal
Estriol: n/a
inhibin: normal

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94
Q

trisomy 13 quad and triple screening tests

AFP:
HCG:
Estriol:
inhibin:

A

AFP: high
HCG: normal
Estriol: normal
inhibin: normal

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95
Q

trisomy 18 quad and triple screening tests

AFP:
HCG:
Estriol:
inhibin:

A

AFP: really low
HCG: low
Estriol: low
inhibin: low

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96
Q

angelman syndrome

A

deletion or mutation in the maternal UBE3A gene on chromosome 15 with a pateral gene methylation/ silencing

child will present with seizures, ataxia, intellectual disabilties and frequent laughter

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97
Q

williams syndrome

A

microdeletion of the long arm of chromosome 7 (deletion of elastin)

hypercalcemia, hypersocialability, elfin facies, intellectual disabilitiy, supravalvular aortic stenosis

98
Q

47 XXY

A

klinefelter syndtome (nondisjunction during meiosis)- testicular dygenesis, and testosterone deficiency)

99
Q

Primary Biliary Cholangitis

A

autoimmne disorder with T cell mediated destruction of small intralobular bile ducts which can lead to cholestasis and hepatic cirrhosis/failure.

antimitochondrial antibodies, high Alkaline phosphatase

100
Q

anti-ribonuceloprotein

A

mixed connective tisse disease

101
Q

mixed connective tissue diease

A

systemic sclerosis, systemic erythematous lupus, and polymyositis

102
Q

primary sclerosing cholangitis antibodies

A

p-ANCA

103
Q

autoimmune hepatitis antibodies

A

anti kidney microsome type 1 (LKM1) and anti-smooth muscle

104
Q

the iliotibial band originates from the

A

tensor fascia lata muscle travels over the lateral femoral condyle and inserts at the gerdy tubercle on the lateral aspect of the proximal tibia

105
Q

what is the function of the IT band

A

knee extension and flexion and is a lateral knee stabalizer

106
Q

carcinoid syndrome

A

neuroendocrine tumor that secretes high lecels of 5-Hydroxyinfoleacetic acid *5-HIAA)

carcinoid tumor for small intestines metasatasized to the liver (flushing, wheezing , diarrhea and right sided valvular lesions -tricuspid regurgitation)

107
Q

neuroblastoma tumors secrete

A

homovanillic acid (HVA), VMA and dompamine and cause hypertension

108
Q

neuroblastoma should be considered in children with

A

abdominal mass, proptosis, racoon eyes, horner syndrome, paraspinal mass, bladder dysfunction, scoliosis, diarrhea

109
Q

why does obesity in a post menopausal woman increase the risk for breast cancer

A

there are higher than normal levels of peripheral conversion of precursors to estrogen in adipose tissue

110
Q

isotonic contraction

A

one that generates a force by changing the length og the muscle

muscle tension is constant as the muscle changes length

111
Q

isotonic contractions can be?

A

concentric or eccentric

112
Q

concentric contractions

A

muscle shoortens while generating force

113
Q

upward motion of the bicep curl is what kind of contraction

A

isotonic concentric contraction

114
Q

eccentric muscle contraction

A

muscle increases in length with contraction

  • lowering the bicep curl
115
Q

isokinetic contraction

A

velocity of the contraction remains constant (rare and occurs with specialized instruments)

116
Q

isometric contraction

A

muscle contracts while maintaing constant length

(pushing against an immovable object like the wall)

117
Q

how does a prolactinoma cause amenhorrhea

A

a prolactinoma is a pituitary tumor that produces prolactin irrespective to dopamin levels (usually under the control of dopamine). Excess prolactin will supress GnRH levels being released from the hypothalamus and cause a decreased level of LH and FSH and subsequent amenorrhea

also galactorhea and decreased libido could cause bilateral hemianopsia if it compresses the optic chiasm

118
Q

turner syndrome 45X ovaries

A

undergo apoptosis and fibrosis in the ovaries and follicles

119
Q

nephritic syndromes mneumonic

A

IBRDAM

BRIM-AD

berger disease (iga) , rapidly progressive glomerulonephritis, infection associated, membranoprolifertive glomeruloneprhitis, alport syndtome,

120
Q

membranoproliferative glomerulonephritis on light microscopy

A

mesangial proliferation, GBM splitting with tram-track apperance

121
Q

causes of membranoproliferative glomerulonephritis

A

Autoimmune, monoclonal gammopathy , HCV or HBV or idiopathic

122
Q

IgA nephropathy

A

berger disease- igA deposits in the mesangium with hematuria following a respiratory or Gi infection

123
Q

nephrotic syndrome mnemonic

A

MFMAD

F- DAMM

Focal segmental glomerulocscerolsis, diabetes glomerulonephropathy, amyloidosis, minimal change disease, membranous nephropathy

124
Q

what is the most common site of hypertensive hemorrhage in patients with long standing hypertension

A

lenticulostriate arteries that supply the internal capsule

125
Q

posterior limb of the internal capsule contains

A

descedning corticospinal tract (UMN for the extremities) and ascedning somatosensory pathways for the body and face

  • lesions cause contralateral hemiparesis and hemianesthesia
126
Q

genu of the internal capsule contains

A

descening coticonuclear (corticobulbar tract) and UMN for the face

-lesion would cause motor loss for the contralateral side of the face only

127
Q

lesion in the lateral geniculate nucleus of the thalamus

A

visual field deficit : contralateral homnymous hemianopia

128
Q

kallman syndrome

A

lack of embryonic migration of the olfactory bulb cells to the hypothalamus and a lack of puberty development, sexual characteristics and decreased sense of smell.

hypogonadotrophic hypogonadism

129
Q

Prader willi

A

deletion of the paternally derived chromsome 15 and maternal silencing.

hyperphagia, obesity, hypogonadism, developmental delay, hypotonia and small hands and feet with almond shaped eyes

130
Q

testicular choriocarcinoma

A

secrete bHCG and presents with precocoious puberty, gynecomastia and loss of libido

when you transilluminate the testes they will not transilluminate

131
Q

neuroleptic malignant syndtome

A

caused by antipsychotics

fever, muscle rigidity, mental status changes, autonomic instability, rhabdomyolysis and CK elevation

  • dantrolene
132
Q

what is the MCC of death in kids less than 1

A

1 congential malformation, preterm gestation, pregnancy complications

133
Q

screening for aneuploidy consists of

A

nuchal translucency, AFP, bHCG, inhibin A, and pregnancy associated plasma protein (PAPP-A)

134
Q

at is the MCC COD in people ages 1-44

A

accidental injury

135
Q

what is the MCC COD in people aged 45-64

A

cancer

136
Q

what is the MCC COD in people older than 65

A

heart disease

137
Q

acetaminophen is metabolized how? - 2 ways

A

by the liver

converted to nontoxic metabolites by sulfonation and glucuronidation

OR metabolized by CytochromeP 450 enzymes into a toxic metabolite called N-acetyl-p-benzoquinone imine (NAPQ1)

138
Q

how does the body get rid of NAPQI the toxic metabolite from acetaminophen overdose

A

it is conjgated by glutathione and eliminated through the urine

139
Q

how can acute ethanol reduce acetaminophen induced hepatotoxicity?

A

it can be converted to acetaldhyde which is a competitive inhbitor or cytocrom P450 and decreasing the rate of acetaminophen metabolism to NAPQI (toxic metabolite)

Acetaminophen and ethanol are metabolized by the same cytochrome P450 enzyme. Through competitive inhibition, acute (not chronic) ingestion of ethanol can lead to decreased conversion of acetaminophen to N-acetyl-p-benzoquinone imine (a toxic metabolite), potentially reducing acetaminophen-induced hepatotoxicity. However, cytochrome P450 2E1 activity is upregulated by chronic ethanol use. As a result chronic alcohol consumption increases NAPQI concentrations and the risk of hepatotoxicity during an acetaminophen overdose.

140
Q

chronic alcohol consumption _ Cytocrhome P450

A

increases

141
Q

chronic ehtanol consuption _ intrahepatic glutathione synthesisi

A

decreases

142
Q

what is the normal pressure in the aorta and LV during diastole

A

aorta: 120/80

LV: 120/10

143
Q

what is the pressure of the aorta and left ventricle during aortic regurgitation (diastole)

A

aorta: 160/60

LV: 160/20

144
Q

aortic regurgiation is characterized by

A

rapid loss of aortic pressure during diastole with backflow into the left ventricle

LV become dialted and undergoes eccentric hypertophy

145
Q

characteristics of aortic regurgitation

A

rapid rise-rapid fall pulsation
widened pulse pressure
rapid distension and collapse of carotid arteries
bruit of the femoral arteries

146
Q

hemodynamic changes in AR on cardiac catherterization show

A

decreased aortic diasoltic pressure
elevated left ventrical diastolic pressure
increased systolic pressure for both

147
Q

the left ventricle undergoes _ hypertrophy due to pressure overload

A

concentric

148
Q

AT1-AT6 tenderpoint location and treatment

A

midline at the sternal notch and sternocostal juncitons

tx: flexion

149
Q

AT7 location and treatment

A

AT7 location: at rib 7 midline and lateral to the rectus abdominis

tx: F STRA

150
Q

AT8 tenderpoint location and treatment

A

location: T12 mindline and lateral to the rectus abdominis

tx: FSTRA

151
Q

AT9 tenderpoint location and treatment

A

location: above the umbilius midline and lateral to the rectus abdominis

tx: FST RA

152
Q

AT 10 and AT 11 location and treatment

A

AT 10: below umbilicus midline and lateral to rectus abdominis

AT 11: at the sacral base midline nad lateral to rectus abdominis

tx: FSTRA

153
Q

AT 12 tenderpoint and treatment

A

location: superior to ASIS near iliac crest

154
Q

PT1-PT12 spinous process and transverse process treatments

A

spinous process: ESARA

transverse process: ESART

155
Q

what is dyskeratosis congenita

A

a genetic disorder involving mutations in the genes related to telomere maintenece

  • cant protect against chromosomal degredation
156
Q

in cells with high turnover rate like _ _ _ the telomere length is maintained by telomerase

A

epithelial cells, lymphocytes, hematopoietic stem cells

157
Q

telomerase is composed of?

A

RNA template and reverse transcriptase that adds DNA repeates to the end of telomeres that are lost with each division

without it - premature cell death in rapidly dividng cells (bone marrow failure, mucocutaneous changes, pulmonary fibrosis)

158
Q

disorders in telomerase functioning can result in

A

mucocutaenous changes like oral leukoplakia

bone marrow failure

pulmonary fibrosis

159
Q

dihydrorhodamine testing evaluates for?

A

phagocytic oxidative response

  • chronic granulomatous disease

The DHR assay detects the conversion of DHR (a colorless substance) to rhodamine (fluoresces green) by free radicals produced when the NADPH oxidase pathway is stimulated (eg, by a protein kinase C agonist such as phorbol myristate acetate). In unaffected patients, stimulated cells show increased intensity of fluorescence (ie, rightward shift along the x-axis), indicating appropriate NADPH activity, whereas unstimulated cells remain colorless. In patients with CGD, the stimulated cells show no increased fluorescence (ie, no oxidation of DHR).

160
Q

chronic granulomatous disease is a disorder of?

A

phagocyte metabolism characterized by defective NDAPH oxidase an enxyme in the repiratory burst pathway

161
Q

LAD is a deficency in

A

CD18 integrins with impaired chemotaxis to the site of inflammatino

DHR testing is normal

162
Q

normal hemoglobin consists primarily of hemoglobin _ which migrates rapidly toward the positive electrode

A

hemoglobin A

163
Q

hemoglobin _ is an abonormal type of hemoglobin in which non plar amino acid valine replaces a negatively charged glutamine in the globin chain.

A

hemoglobin S

164
Q

hemoglobin _ has a glutamate residue replaced by a lysine

A

hemoglobin C

165
Q

both Hbc and Hbc result from _ mutations

A

missense

166
Q

patients with sickle cell disease have _ mutations in both beta chains

A

HbS

167
Q

patients with HbC disease have _ mutations

A

HbC (2)

168
Q

metformin MOA

A

inhibits mitochondrial glycerophosphate dehydrogenase

upregulates AMp activated tyrosine kinase

169
Q

metabolic effects of metformin

A

decreased hepatic glucose production
decreased intestinal glucose absorption
increased peripheral glucose uptake
decreased lipogenesis

170
Q

adverse effects of metformin

A

diarrhea, lactic acidosis, vitamin B12 def

171
Q

contraindications for metformin

A

renal insufficiency, hepatic insufficiency, decompensated heart failure

172
Q

sulfonylureas MOA

A

stimulate beta cell insulin release leading to decreased glycogenolysis and gluconeogenesis with increased periopheral uptake of glucose

173
Q

normal developmental milestones in preschoolers- 3 year olds

A

walks up stairs with alternating feet and rides tricycle

dresses with help uses fork and copies circle

says 3 word sentences, knows age and sex and plays with other children

174
Q

developmental milestones in 4 year olds

A

catches large ball
draws person with 3 body parts
unbuttons clothes
hold pensil between fingers and thumb
knows colors, says greater than 4 word sentences
confronts others
avoids danger
imaginative play

175
Q

developmental milestones in 5 year olds

A

hops on 1 foot
buttons clothes
writes letters
speaking in full sentences
counts to 10
follows rules and takes turns
nocturnal urinary continence

176
Q

congenital hydrocephalus

A

a congenital or acquired obstruction leads to the accumulation of cerebrospinal fluid in the brain

infants will have an elearging head circumfrence, bulging fontanelle, poor feeding, and dilation of lateral ventricles

muscle spaciity and hyeprreflexia

177
Q

why does muscle spasticity and hyperreflexia occur in congenital hydrocephalus

A

UMN injury due to the stretching of periventricular tracts

178
Q

how do you treat congenital hydrocephalus?

A

placement of a shunt via the ventriculoperitoneal route

179
Q

prolactinomas can cause

A

galactorrhea, irredular menses, decreased libido

bitemperal hemianopsia (compression of optic chiasm. inthe suprasellar region)

180
Q

treatment of prolactinomas

A

dopamine agonists (bromocriptine, cabergoline)

181
Q

arterial blood supply to the myocardium is provided by the?

A

right and left coronary arteries

182
Q

most cardiac venous blood drains into the right atrium via the _

A

coronary sinus

183
Q

the left ventricle is only perfused during

A

diastole

  • contraction during systole leads to compression of the coronary vesells and disruption of blood flow
184
Q

oxygen extraction is highest in the heart than in any other tissue so the _ is the most deoxygenated blood in the body

A

coronary sinus

185
Q

increased oxygen delivery to. theheart can only be achieved by

A

increasing coronary blood flow

186
Q

what are two pharamacological agents that can increase coronary blood flow via vasodilation

A

adenosine and nitric oxide

187
Q

how does isoniazid resistance occur

A

decrease in bacterial experssion of the caralase positive peroxidase enzymes (which causes isoniazid activation)

modification of protein target binding site for isonizaid

188
Q

isoniazid may only be used as a mono therapy in tuberculosis when

A

there is a positive PPD and a negative chest X-ray

189
Q

esophageal swaumous cell carcinoma on histology

A

keratin pearls with eosinophilic cytoplasm and intercellular bridges (nests of neoplastic squamous cells)

dysphagia, weight loss, poor prognosis (usually in men greater than 50)

190
Q

IL-2 is produced by

A

CD4, CD8 and NK cells

191
Q

high doses of IL-2 can be used for

A

renal cell carcinoma and metastatic melanoma

192
Q

what are the effects of high doses of IL-2

A

IL-2 convertes CD4 into type 1 helper T cells which secrete inflammatory cytokines that drive antitumor response

IL-2 explands the activated pool od CD8 and increasing their cytotoxic killing

IL-2 triggers NK proliferation and dramatically increases their cytotoxic activity (most profound antitumor affect)

193
Q

what is the pathogenesis of systemic sclerosis/scleroderma

A
  1. vascular endothelial cells produce excessive endothelin 1 which causes vasocontriction and activation of fibroblasts, they also increase adhesion molecules
  2. T lymphocytes migrate into the tissue and express cytokines that further activate fibroblasts
  3. dermal fibroblasts produce collagen

overall thickening of the skin

194
Q

psoriasis pathogenesis

A

dendritic cells recurit T helper cells which produce inflammatory cytokines and stimulate keratinocyte proliferation and neutrophilic infiltration

195
Q

the increased incidence. ofmucormycosis in diabetes mellitus is due to?

A

ketone reductase activity of rhizopus allowing it to thrive in ketoacidotic environments

196
Q

how do you diagnose mucormycosis caused by mucor or rhizopus (ascends from nasal passage-black eschar)

A

mucosal biopsy

ribbon liked, broad non septate hyphae with right angle branching)

Facial pain, headache, and a black necrotic eschar in the nasal cavity of a patient with diabetic ketoacidosis are highly suggestive of mucormycosis. Histologic examination of the affected tissue is necessary to confirm the diagnosis. The fungi show broad nonseptate hyphae with right-angle branching. Treatment consists of surgical debridement and antifungal therapy.

197
Q

tonic clonic seizures

A

generalized seizure that has a loss of consciousness and post ictal state with deiffuce contraction (tonic) and jerking (clonic)

198
Q

myclonic seizures

A

generalized seizure with no LOC or postictal state

brief jerking movements that usually occur within the first hour of waking up or provoked by sleep deprivaiton

199
Q

atonic seizure

A

sudden loss of muscle control and drop to the floor

200
Q

absence seizure and treatment

A

brief staring episodes with automatisms and no post ictal state

treat: ethosuximide

201
Q

generalized onset seizures are treatment with

A

borad spectrum anticonvulsants like valproic acid or levetiracetam

202
Q

focal seizures (aware and impaired awareness) are treated with?

A

narrow spectrum anticonvulsants like phenytoin, carbamazepine, gabapentin

or borad spectrum anticonvulsants as well

focal seizures

203
Q

Oocyte fertilization begins within the _ of the fallopian tubes and initiates completion of the _ _ division and zygote formation

A

ampulla

second mieotic

204
Q

the zygote travels through the fallopian tube undergoing multiple mitotic divisons and creating a smaller collection of cells called a _

A

morula

205
Q

about 3-4 days following fertilization the morula enters the uterine cavity and forms its own central cavity converting it into. a_

A

blastocyst

206
Q

cellular differentiation within the blastocyst forms an inner cell mass _ and an outer later of _

A

embryoblast

trophoblast

207
Q

the trophoblast has 2 different cell population -

A

cytotrophoblasts

and syncytiotrophoblasts (differentiated) that invades the endometrium

208
Q

following invasion the _ begin to secrete B-Hcg and other hormones into the maternal circulation

A

syncytiotrophoblasts

209
Q

cytotrophoblasts secrete _ which promotes villous invasion in early pregnancy

A

hyperglycosylated bHCG different from HCG

210
Q

what is the treatment of choice for trigeminal neuralgia

A

carbamazepine

211
Q

MOA of carbamezapine

A

inhiits neuronal high frequency firing by reducing the ability of sodium channels to recover from inactivation

just like phenytoin

212
Q

side effects of carbamazepine

A

aplastic anemia

  • monitor CBC
213
Q

GnRH is secreted from

A

the hypothalamus

214
Q

_ from the pituitary stimultes the _ cell to secrete tesosterone

A

LH

leydig

215
Q

testosterone negative influences what

A

LH and GnRH

216
Q

sertoli cells secrete

A

inhibin B

217
Q

inhibin B negatively influences what

A

FSH

218
Q

_ from the pituitary stimulates _ cells to produce androgen binding protein

A

FSH

sertoli

219
Q

what does androgen binding protein do

A

concentrates testosterone in the seminiferous tubules and facilitates spermatogenesis

220
Q

following unilateral orchiectomy there. is an initial drop in _ that stimulates the pituitary to secrete _ leading. tocompensatory production

A

testosterone

LH (leydig cell hyperplasia)

221
Q

what are the fiding after a unilateral orichectomy

A

normal libido and decreased spermatogenesis (due to the loss of a seminiferous tubule)

222
Q

bilateral testicular damage leads. to

A

azoospermia

223
Q

beer is particularly likely to cause gout as it contains high amounts of

A

absorbale purines that are metabolized to uric acid

224
Q

risk factors for increased uric acid production

A

purine rich foods, increases cell turnover, frustcose containg food, lesch nyhan syndrome, phophoribosyl phyrophosphate activity

225
Q

risk factors for decreased uric acid clearance

A

CKD, volume depletopn, diuretics, cyclocporine. and tacrolimus

226
Q

what form of bacterial menigitis benefits from glucoroticoid treatment to reduce inglammation

A

strep penumococcal meningitis

227
Q

the _ nerve supplies motor innervation to the diaphrgam

A

phrenic nerve

228
Q

the phrenic nerve is alsmost always transiently affected by

A

an interscalene block

229
Q

what are the attachment points of the diaphragm

A

anteriorly: xiphoid process of the sternum
lateral: ribs 6-12
posterior L1-L3 vertebral bodies

230
Q

the diaphragm moves _ during inhalation

A

down

231
Q

unilateral paralysis of the diaphragm causes an elevation of the _ side

A

affected

(decreased forced vital capacity)

232
Q

fever, jaw pain, swelling og the pre/postauricular area on the right side extending to the angle of the manible

A

acute suppurative parotitis

233
Q

suppurative parotitis can present with elevated

A

amylase

234
Q

what bacteria causes parotitis

A

staph aureus

235
Q

risk factors of parotitis

A

dehydration, intubation, decreased salivary flow (anticholinergics), stone, intense teeth cleaning

236
Q

what is alkaline phophatase and where is it found

A

an enzyme that hydrolyses and removes phosphate from other compounds

it is found in bone, liver, bile ducts and placenta

237
Q

GGT (gamma-glutamyl transpeptidase) function

A

helps convert glutathione to glutamate

(liver)

238
Q

the greater trochanter serves as an insertion site for _ which origitates from the _

A

gluteus medius

ilium

239
Q

main actions of the gluetus medius

A

hip abduction and stabilizationof the pelvis during ambulation

240
Q

damage to the point of inerstion of the greater trochanter can result in

A

weakness on abduction, lateral hip pain, and gait instability with a positive trendelenburg sign

A 73-year-old woman is brought to the emergency department due to right hip pain. The patient was getting out of the shower when she slipped and fell directly on her right hip. She now has pain and swelling over the lateral aspect of her hip and cannot walk without assistance. Vital signs are within normal limits. Bilateral pedal pulses are normal, and sensation is intact. X-ray of the right hip is shown below.

241
Q

methtrexate inhibits _ and allows for the accumulatino of

A

dihydrofolate reductase

increases in folic acid polygutamate, and Dihydrofolate polyglutamate

(they undergo polyglutamation to prevent them from leaving the cell)

242
Q

what drug resuces normal cells by competeing with MTX for DHF reductase binding sites, reactivating DHF reductase and allowing reentry of DNA synthesis

A

folinic acid

WELL (8 decks)

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