Everything week 6 Flashcards

1
Q

Smoking not only worsens the complications of ___ but increases the likelihood of developing this disease?

A

Diabetes

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2
Q

This disease is characterized by abnormal systemic proliferation of mast cells and increased histamine release?

A

Systemic Mastocytosis

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3
Q

How does histamine release in mastocytosis produce the symptoms seen in this disease?

A

Histamine release causes hypersecretion of gastric acid by parietal cells (diarrhea) + other symptoms including hypotension flushing & pruritus.

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4
Q

Systemic mastocytosis is often associated with mutations in the ____?

A

KIT receptor tyrosine kinase

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5
Q

How can galactosemia present?

A

Vomiting and lethargy soon after breastfeeding, impaired liver function (precursor accumulation), and renal dysfunction and predisposed to E Coli sepsis.

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6
Q

What are the dysfunctional enzymes in the two types of galactosemia?

A

Galactokinase deficiency - GALK (galactokinase)

Classic galactosemia - GALT (galactose-1- phosphate uridyl transferase)

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7
Q

The 2 most important factors for osteoclastic differentiation are?

A

M-CSF macrophage stimulating colony
and RANK-L (receptor for activated nuclear factor kappa -B)
Produced by osteoblasts and bone marrow stromal cells.

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8
Q

What is the first line tx for gonorrhea infection?

A

Macrolide and 3rd generation cephalosporin (ceftriaxone and azithromycin) - due to concerns about resistance and chlamydia co-infection.

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9
Q

Cavernous sinus thrombosis is most commonly due to contiguous spread of an infection from the ____ (3 places?

A

Medial third of the face, sinuses (ethmoidal or sphenoidal) or teeth.

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10
Q

Cavernous sinus thrombosis often presents with these symptoms?

A

HA?fever, diplopia and injury to CN 3, 4, 6 (ocular muscles) and 5 (loss of corneal reflex and upper facial sensation).

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11
Q

LH levels in PCOS are high/low?

A

High

**due to altered hormonal feedback response.

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12
Q

What medication can be used to treat PCOS?

A

Clomiphene - SERM. Prevents -ve feedback inhibition in the hypothalamus and pituitary by circulating estrogen -> increased FSH and LH & ovulation.

**treats fertility

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13
Q

Acute and painless monocular vision loss is characteristic of?

A

Central retinal artery occlusion.

Most common cause: emboli. Others: temporal arteritis (giant cell)

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14
Q

This condition often occurs with more than half of patients with temporal arteritis?

A

Polymyalgia rheumatica (characterized by neck, torso, shoulder and girdle pain and morning stiffness).

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15
Q

Presentation of temporal arteritis?

A

HA (focal over temple)
Craniofacial pain (jaw or tongue claudication and facial pain)
If with polymyalgia rheumatica - shoulder, neck, torso pain.
Sudden vision loss (dreaded complication)

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16
Q

How do OCPs work?

A
Decrease LH -> decrease androgen production. 
Increase SBG (sex binding globulin) decrease free testosterone.
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17
Q

DUring menopausal transition what happens to FSH levels?

A

Increase (due to resistant ovarian follicle and lack of feedback from inhibin)

**Elevated FSH levels is diagnostic

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18
Q

The biggest risk of hookworm infection is?

A

Iron deficiency anemia.
Will aslo px with transient, pruritic, maculopapular rash.

** Dx - stool microscopy. Eosinophilia is also important diagnostic clue

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19
Q

What is the enzymatic defect found in homocystinuria.

A

Unable to convert homocysteine -> cysteine (defect of cystathionine synthase). Converted instead to methionine.

**So cysteine will be essential in the diet

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20
Q

What is the presentation for homocystinuria?

A
HOMOCYstinuria
H- homocysteine in urine
O- Osteoporosis
M- Marfan habitus
O - ocular disturbances (lens displacement)
C - CV defects
Y - kYphosis
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21
Q

Colchicine is a treatment for _____ gout?

A

Acute (especially in patients with NSAIDs contraindications e.g PUD).

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22
Q

Methadone ( a mu opioid agonist) is metabolized by?

A

P450 system - especially CYP3A$4.

**Inhibitors can increase plasma concentration and lead to opioid toxicity.

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23
Q

Prodrome of measles?

A

Cough, congestion and conjunctivitis followed by maculopapular rash that spreads, cephalocaudal and centrifugally.

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24
Q

Which vitamin is a recommended supplementation during a measles infection?

Why?

A

Vitamin A (prevents and treats ocular complications and reduces risk of other comorbidities (pneumo & encephalitis))

Measles depletes vitamin A stores

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25
Q

What is the Thayer-Martin medium used to identify?

A

Pathogenic Neisseria organisms.

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26
Q

What Antibiotics does the Thayer Martin Medium contain?

A

Vancomycin (to inhibit gram +)
Colistin & TMP (to inhibit gram -ve other than Neisseria)
Nystatin (to inhibit yeast)

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27
Q

In breast cancer, overlying skin retractions (puckering) signal involvement of ___?

A

Suspensory ligaments of the breast (cooper ligaments). Malignant infiltration leads to shortening and fibrosis.

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28
Q

Treatment of streptococcal upper respiratory infection with __ can prevent development rheumatic fever.

A

Penicillin V

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29
Q

Candidemia (systemic candida infection) can be attributed to these causes?

A

Vascular catheter, skin & soft tissue infection.

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30
Q

Which pathway is the main source of NADPH?

A

PPP

affected in G6PD deficiency

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31
Q

Why is this pathway important?

A

Major pathway for generation of reduced glutathione (an antioxidant)

Biosynthesis of FA, cholesterol and CYP450

Phagocytic cells generating respiratory burst via NADPH oxidase

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32
Q

MOA of Adalimumab?

A

Recombinant igG that binds to TNF -alpha (inflammatory cytokine involved in promoting leukocyte migration, neutrophil and macrophage function and granuloma activity).

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33
Q

Mechanism of failure of Adalimumab?

A

Can become less effective overtime due to formation of anti drug antibodies and les to more rapid drug clearance.

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34
Q

Dx of HSV encephalitis?

A

Temporal lobe hemorrhage/edema on brain imaging, PCR for HSV.

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35
Q

How are the two ways that HSV can become present in the body?

A

Oropharyngeal infection that travels via the olfactory tract or from the reactivation of latent virus in trigeminal ganglion.

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36
Q

Functions of LH and FSH in males?

A

LH -> testosterone from Leydig cells

FSH -> inhibin from Sertoli cells in the seminiferous tubules. Also produces Androgen binding hormone (responsible for high local testosterone concentration)

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37
Q

MAOis are especially helpful in the treatment of this type of depression?

A

Treatment-resistant depression with atypical features; mood reactivity - mood improves in response to positive events, leaden paralysis - patients limbs feel heavy, rejection sensitivity and increased sleep and appetite).

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38
Q

Functions of LH and FSH in the ovaries?

A

LH -> androgen and progesterone synthesis in theca interna
FSH-> aromatase converts androgen to estradiol in granulosa cells.

Theca externa serves as connective tissue

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39
Q

A posterior hip dislocation will present physically as?

A

Adducted and Internal rotated

** Sciatic nerve will be affected.

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40
Q

What pathway connects the hypothalamus to the pituitary gland and is responsible for the tonic inhibition of prolactin secretion?

A

Tuberoinfundibular pathway.

**antipsychotics disrupt this pathway

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41
Q

What neural pathway connects the Broca and Wernicke areas?

A

Arcuate fasciculus

**disruption -> conduction aphasia (fluent speech, intact comprehension and impaired repetition)

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42
Q

What type of medication is Anastrozole?

A

Aromatase inhibitor (often used to treat ER+ breast cancer) by decreasing the synthesis of estrogen from androgens, decreasing estrogen levels.

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43
Q

The superior gluteal nerve innervates what muscles?

Lesion to this nerve can cause?

A

Gluteus medius and minimus & tensor fascia latae.

+ trendelenburg sign

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44
Q

Psoas abscess presents with these symptoms and is often due to ?

A

Fever, flank pain, pain with extension (psoas sign)

Direct or Hematogenous spread in immunocompromised patients (or IV drug use)

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45
Q

Psoas sign is also present in this condition?

A

Retrocecal appendicitis (irritates r. psoas m)

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46
Q

In lactate dehydrogenase deficiency, why is glycolysis inhibited?

A

Because exercising muscle cells cannot regenerate NAD+ (from pyruvate conversion to lactate).

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47
Q

Px for congenital hypothyroidism?

A
slowed metabolism (constipation, poor feeding lethargy). 
Umbilical hernia macroglossia and large anterior fontanelle.

**may progresses to irreversible neuro damage.

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48
Q

Tx for hypothyroidism?

A

Levothyroxine

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49
Q

In tetanus (clostridium tetani) from puncture wounds, the toxin blocks release of?

A

Glycine and GABA (leads to disinhibited motor neurons -> muscle spasms and hyperreflexia).

**is a clinical diagnosis only

**The toxin migrates by retrograde axonal transport. Other symptoms; lock jaw or trismus and backward arching (opisthotonos)

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50
Q

What food product is often implicated in infant botulism?

A

Honey

**blocks release of Acth

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51
Q

What is often the first manifestation of infant botulism?

DX?

A

Constipation.
Days to weeks later: mild weakness, lethargy & reduced feeding, flaccid paralysis.

Toxin in stool samples

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52
Q

What is often the first line therapy for Essential tremor treatment?

A

B - blocker (often propranolol) - prevent Epi and NE interaction with receptor.

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53
Q

A cystic tumor in the cerebellum of a child is most likely?

A

pilocytic astrocytoma

**well differentiated neoplasm composed of spindle cells with hair like glial processes associated with microcysts. Mixed with Rosenthal fibers and granular eosinophilic bodies

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54
Q

This is an indication of damage to the facial n. close to its origin from the brainstem?

A

Hyperacusis (increased sensitivity to sound)

*Nerve to the stapedius m, is one of first branch of facial n.

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55
Q

These drugs and hepatic cholesterol production;
Simvastatin?
Cholestyramine

A

Decreased (by inhibiting HMG COA reductase) -> decreased hepatic synthesis ->
upregulate LDL receptors -> increasing uptake

Increased
Bile acid binding resins interfere with enterohepatic circulation of bile acids -> increased excretion -> increased synthesis of new bile acids -> deplete liver stores.

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56
Q

Meningioma histopathology?

A

Slow growing, well circumscribed, whorled pattern of cellular growth that forms nests that may calcify into round eosinophilic psammoma bodies.

** can px with seizures

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57
Q

Which is the most sensitive test for primary hypothyroidism TSH or T3/T4?

A

TSH

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58
Q

The golgi tendon circuit is -ve feedback system that regulates and monitors?

A

Muscle tension (not length aka stretch).

Intrafusal muscle fibers are sensitive to muscle length

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59
Q

Monomicrobial cases of Necrotizing fasciitis can be due to this bacteria?

A

Strep pyogenes

**is also PYR +ve (pyrrolidonyl arylamidase)

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60
Q

Primary blood supply to the ACL?

A

Middle geniculate artery

**ACL tears -> acute onset of hemarthrosis.

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61
Q

I primary osteoporosis what are the serum concentrations of calcium, phos and PTH?

A

All typically normal

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62
Q

Craniopharyngiomas arise from?

How many components do these tumors typically have?

What are they?

A

Rathkes pouch

3 components

Solid, cystic and calcified

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63
Q

What is the most common disorder of the urea cycle?

A

Ornithine transcarbamylase deficiency (OTC)

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64
Q

How do urea cycle disorders typically present?

A

Vomiting, tachypnea and confusion coma (secondary to

Increased ammonia) and increased urinary orotic acid.

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65
Q

Most common cause of nipple discharge (serous or bloody)?

A

Intraductal papilloma ( proliferation of papillary cell in a cyst wall or duct with fibrovascular core).

** patients will typically have no masses or skin changes

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66
Q

The etiology fo Polyhydramnios is due to? (2)

A

Decreased fetal swallowing (GI obstruction – duodenal, esophageal or intestinal atresia) and anencephaly or increased fetal urination

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67
Q

What is a Rheumatoid factor?

A

IgM antibody that targets IgG Fc region

**will also see HLA-DR4 (4 walled rheum)

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68
Q

In distal clavicle fracture, the deltoid muscle and weight of arms cause ____ displacement of lateral fragment?

A

Inferolateral

**SCM and trapezius cause superior medial displacement

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69
Q

Dermatomyositis or polymyositis may occur alone or in combination with?

A

Paraneoplastic syndrome associated with underlying adenocarcinoma (ovary, lung, pancreas).

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70
Q

Insulin dependent transporters (GLUT 4) is expressed in these cells?

A

Skeletal muscle cells and adipocytes

Translocate GLUT4 to membrane in response to increasing insulin levels.

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71
Q

These two physical features are specific for Graves dz?

A

Pretibial myxedema and Graves ophthalmopathy. Accumulation of glycosaminoglycans in these tissues

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72
Q

Symptoms of spinal stenosis are ____ dependant?

A

Positional/posture

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73
Q

The most common cause of spinal stenosis?

A

Degenerative arthritis

This leads to narrowing of the spinal canal due to disc herniation, ligamentum flavum hypertrophy and osteophyte formation.

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74
Q

Which muscle form the levator ani muscles?

A

Illiococcygeus, pubococcygeus and puborectalis

*injury to these muscles lead to urethral hypermobility and/or prolapse

75
Q

Why does propofol have short duration of action?

A

Rapidly distributed to others organs (initially accumulates in organs with increased blood flow then redistributes to organs receiving less blood flow).

76
Q

Treatment of CAH should target this hormone.

A

ACTH - low dose exogenous steroids will negatively feedback on ACTH decreasing androgen production.

77
Q

In Niemann-Pick disease, what is deficient, what accumulates?

A

Sphingomyelinase deficiency
Sphingomyelin ( lipid constituent if cell membranes)

Lipid foam cells accumulate in the liver and spleen (hepatosplenomegaly). in neurons - neurodegeneration, in the retina - cherry-red spot.

78
Q

MI in which leads often lead to bradycardia?

A

Inferior leads.

**MI affects RCA which controls SA and AV node.

79
Q

What can be used to treat bradycardia caused by inferior MI?

A

Atropine (prevents vagal stimulation)

80
Q

WHat effect does atropine have in the eye?

A

Mydriasis (contraindicated in pts with glaucoma)

81
Q

Most common causes of HIV esophagitis?

A

Candida, CMV and HSV

82
Q

Functions of osteocytes?

Osteocytes communicate via?

A

Detect mechanical stress and modulate activity of surface osteoblasts (regulate bony remodeling) & control short term release and deposition of calcium.

Gap junctions in their calculi

83
Q

Enzymes for the following rxns?

Tyrosine -> Dopa
Dopa-> Dopamine
Dopmaine -> NE
NE-> E

A

Tyrosine hydroxylase
Dopa decarboxylase
Dopamine B-hydroxylase
PNMT (this is regulated by cortisol)

84
Q

While dopamine and NE are produced primarily in the CNS, where is Epinephrine primarily produced?

Primarily stimulated by?

A

Adrenal medulla

Cortisol

85
Q

What do COMT and MAO do to NE & Epi?

A

Inactivates NE & E (turns them normentanephrine & metanephrine -> MAO converts to vanillymandelic acid.

86
Q

What component of the prostate gland in BPH does finasteride work on?

A

Epithelial component

They can be either predominant epithelial or stromal component (collage or smooth muscle predominance)

87
Q

What is finasteride?

A

5-alpha reductase inhibitor

88
Q

What is the most sensitive imaging method for diagnosis vertebral osteomyelitis?

A

MRI

89
Q

Carnitine deficiency impairs what function in fatty acid metabolism?

A

Transport across the plasma membrane from the cytoplasm to mitochondria (preventing B-oxidation into acetyl-coa)

**this will px with cardiac and skeletal myocyte injury due to lack of ATP and impaired production of ketone body by liver during fasting (acetyl-coa -> TCA cycle or Ketone body)

90
Q

When is Reverse T3 (rT3) generated?

A

Peripheral conversion of T4

91
Q

What is the function of aromatase in the ovaries, placenta, testes and other peripheral tissues?

A

Convert androgen -> estrogens

**Placental aromatase deficiency causes accumulation of androgen during pregnancy -> affects infant.

92
Q

A patient with carpel tunnel syndrome will present with?

A

Thenar atrophy, weakness of thumb opposition and pain and numbness.

**can be treated with surgical decompression (longitudinal incision)

93
Q

Acalculous cholecystitis commonly occurs in this population?

A

Critically ill patients (sepsis, severe burns, trauma, immunosuppression).

**Will see fever, RUQ pain +ve murphy, and leukocytosis in absence of stones

94
Q

In stress hyperglycemia which GLUT transporter is up regulated? down-regulated?

A

GLUT 1 brain and macrophages

GLUT 4 - to prevent uptake by peripheral tissues.

95
Q

What is implicated in the pathology of giant cell (temporal arteritis)?

A

Cell-mediated process. Production of cytokines especially IL6 correlates with severity of disease.

**Tx with a monoclonal antibody against IL-6 (tocilizumab)

96
Q

Which ovarian tumor will present with virilization?

A

Leydig-sertoli tumor

**Arise from sex chord stroma and secrete testosterone

97
Q

How can anticonvulsants that induce CYP450 lead to osteoporosis?

A

Increased vitamin D catabolism

98
Q

Where do medullary thryoid cancer arise?
Often seen in the context of?
Associated with mutations in?

A

C cells (calcitonin secereting parafollicular cells)

MEN (A&B)
RET prontoncogene

99
Q

Examples of HLA class II proteins?

A

DR, DQ, DP

100
Q

Seronetive spondlyitis are associated with this disorder?

Individuals expressing this are at greater risk for seronegative spondyloarthropathies?

A

IBD

HLA B27

101
Q

Cancers from the pelvis to the lumbosacral spine (e.g spread of prostate cancer) occur via this path?

A

Vertebral venous plexus, which communicated the the prostatic venous plexus.

102
Q

1 alpha hydroxylase that activates vitamin D is down regulated by this?

A

FGF23 (which in increased in

CKD)

103
Q

Inheritance pattern on duchenne muscular dystrophy?

This condition induces weakness of these muscles?

A

X-linked recessive

Proximal muscles (will see hypertrophy of distal muscles which are later replaced by fat)

104
Q

iron absorption occurs mainly in the ___ of the stomach?

A

Duodenum and proximal jejunum

will be affected in gastrojejunosomy

105
Q

In primary hyperaldosteronism, what happens to sodium concentration

A

Despite increased re-absorption, the levels remain normal due to aldosterone escape (limits edema and hypernatremia via activation of atrial naturetic peptide).

106
Q

What are clue cells?

A

Epithelial cells covered with gram variable rod, found in bacterial vaginosis (Gardenella)

107
Q

How many days after fertilization does a blastocyte implant?

A

6 day. B-hCG is produced by the syncytiotrophoblast after implantation. Can start seeing B-hCG in serum after day 8.
Urine -> after 14 days

108
Q

Can the liver use ketone bodies? Yes/No

Why/ Why not?

A

No

Does not have the enzyme to convert acetoacetate -> acetoacetyl cOA

109
Q

What is an important predictor of insulin resistance?

A

Visceral obesity (waist circumference or waist -hip ratio)

110
Q

What are the factors that make up metabolic syndrome?

A

Insulin resistance, increased visceral adiposity, hypertension & lipid abnormalities (high TAGs or low HDL)

111
Q

Loss of red reflex is often indicative of these conditions?

A

Retinoblastoma or cataracts

112
Q

What is the pathology of cataracts formation in diabetics?

A

Poly-ol pathway becomes saturated. Poly-ol pathway is glucose -> sorbitol -> fructose. In diabetes, the pathway is overwhelmed and accumulation of sorbitol which leads to oxidative and osmotic stress -> diabetic retinopathy -> catarcts

113
Q

What hyperlipidemia drug can lead togallstones?

How does this occur?

A

Fibrates

Fibrates inhibit cholesterol 7-alpha hydroxylase (rate limiting step in synthesis of bile acids -> decreased cholesterol solubility -> formation of stones.

114
Q

Intermittent administration of PTH analog (e.g teriparatide) causes?

A

osteoblast activity > osteoclast activity -> net increase in bone formation

115
Q

What is neurophysin?

A

Carrier proteins for oxytocin and ADH (from production in paraventricular and supraoptic nuclei -> site of release in posterior pituitary)

** point mutations in neurophysin underlie most cases of diabetes insipidus (due to decreased ADH)

116
Q

Pathogenesis of alchohol induced hepatic steatosis?

A

Decreased in fatty acid oxidation due to Excess NADPH produced by two major alcohol metabolism enzymes alcohol and aldehyde dehydrogenase

117
Q

MOA of leuprolide?

A

GnRH analog. Long term use surpress LH release -> decreased testosterone production.

**leuprolide can be used in lieu of GnRH

118
Q

The most common cause of a pneumoperitoneum is?

A

A perforated duodenal ulcer.

119
Q

What is the most common outcome for pneumoperitoneum?

A

Peritonitis -> diffuse abdominal pain with rebound and guarding and referred shoulder pain due to diaphragmatic irritation

120
Q

What are some risk factors for primary psoas abscess development?

A

IV drug use, HIV and diabetes mellitus

121
Q

What is an accurate and non invasive method of diagnosing pancreatic insufficiency?

A

Low fecal elastase

122
Q

How would leukocyte adhesion deficiency present?

What is the genetic basis for LAD?

A

Constant infection without purulence and persistent leukocytosis (unable to migrate out of blood vessels). Also late separation of umbilical cord.

Autosomal recessive - absence of CD18 (necessary for integrin formation).

123
Q

Where do squamous cell carcinomas of the neck typically spread first to?

A

Cervical (jugular) LN via lymphatics

124
Q

Carbon monoxide affects the ___ NOT the ____ of oxygen in the blood.

A

Carrying capacity not the partial pressure (amount of O2 dissolved in the blood)

125
Q

Explain the process of a cohort study?

A

Follow a group over time and track development of disease.

126
Q

Bile stone color and associated conditions.

Black pigment stone? Contain what?

Brown stones?

A

Chronic hemolysis (hemolytic anemia) and increased enterohepatic cycling of bilirubin. Both increase levels of unconjugated bilirubin and increase levels of Calcium bilirubinate(ileal disease)

Brown stone s- biliary tract infection (microbes producing B-glucorinidases)

127
Q

When does carcinoid tumor cause problems?

A

After metastasis (extra intestinal). If confined to the Gi often o not cause any symptoms because they are metabolized by the liver.

128
Q

What is the function of the Kozak consensus sequence?

A

Helps with initiation of translation. Occurs on eukaryotic mRNA.

**gCCgCC (Rcc) preceeds start codon AUG. Where R is either A or G.

129
Q

Apart from hereditary spherocytosis what other situations can cause spherocytosis?

A

Bone marrow response to immune mediated hemolytic anemia (igG coated RBC are taken out by spleen)

**will also see reticulocytes, larger than RBC (with bluishish coloration due to presence of ribosomes) AND RBC with nucleus (immature)

130
Q

What genetic mutation is often associated with myeloproliferative disorders?

A

JAK/STAT Tyrosine kinase

131
Q

Function of Ristocetin cofactor assay?

A

Activates GP Ib so in vWF disorder, this will be abnormal.

132
Q

A delayed hemolytic transfusion reaction is often due to?

A

This reaction occurs in patients that were previously exposed to foreign minor RBC blood cell antigens.

** these are often mild and occur >24 hours after a transfusion.

133
Q

Exertional heat stroke can trigger this condition?

A

DIC - leads to increase in thrombin, fibrin and plasmin

**will show thrombocytopenia and prolonged PT & PTT

134
Q

How is hemophilia inherited?

A

X-linked recessive

135
Q

Patients that undergo splenectomy often develop this cells with this feature?

A

Target cells - increased cell membrane or reduced cell volume (because the spleen often trims excess cell membrane)

136
Q

What are the two mechanisms by which hydroxyurea works?

A

Increases HgbF

And inhibits ribonucleotide reductase (causing cell cycle arrest of rapidly diving hematopoietic cells)

137
Q

What is responsible for the thrombotic and thromboembolic complications of nephrotic syndrome?

A

Loss of anticoagulant factors especially antithrombin III

138
Q

How does Heparin induced thrombocytopenia occur?

A

IgG against heparin and platelet 4. Ab coated platelets are taken out by the spleen.

139
Q

How does follicular lymphoma present?

A

Painless waxing and waning lymphadenopathy

14:18) -> Bcl-2 over expression (has anti-apoptotic effects

140
Q

What is the most common cause of anti-phospholipid syndrome?

A

SLE

141
Q

What features would you need to diagnose Antiphospholipid syndrome?

A
Lab findings of lupus anticoagulant (prolonged PTT not corrected by addition of plasma). 
Anti cardiolipin (can cause false + VDRL/RPR) & anti- Beta 2-glycoprotein I
Recurrent thrombosis or spontaneous abortions.
142
Q

In acute intermittent porphyria (AIP), what is the deficient enzyme?

Px?

Tx?

A

Porphobilinogen deaminase.

Px: Precipitated by drugs, with Painful abd, Port wine colored stain, Poly neuropathy, Psych disturbance

Tx with dextrose infusion and hemin (heme preparation)

143
Q

Maturing erythrocytes lose their ability to synthesize heme when they loose their?

A

Mitochondria

144
Q

How do you notice B cell in histology?

A

Abundant basophillic cytoplasm & Clockface (peripheral) chromatin

145
Q

Enzyme deficiency in the early stages of heme synthesis present with?

Late stage?

A

Early stage - Neuro symptoms and Abd pain

Late stage - photosensitivty (blister formation in sun exposed areas, edema, pruiritus)

146
Q

This drug is a factor Xa decoy without proteolytic effect, it is given to reverse Xa inhibitors who have life threatening bleeding?

A

Andexanet alfa

147
Q

Most carcinoma spread to other sites via?

A

Lymphatics

148
Q

Rituximab targets whats antigen?

A

CD20

149
Q

EPO uses this signal transduction pathway?

A

JAK/STAT

150
Q

G6PD deficiency has this inheritance pattern?

A

X-linked recessive

**males are most affected

151
Q

Spherocytosis inheritance pattern?

A

Autosominal Dominant

152
Q

What signal transduction pathway does HER2 oncogene use?

What does HER2 code for?

Tx?

A

Tryosine Kinase

Human epidermal growth factor (activation -> apoptosis resistant & increased proliferation)

Tratuzumab

153
Q

Warfarin induced skin necrosis is often caused by patients that are deficient in?

A

Protein C or S

154
Q

How is epidermal growth factor receptor activated?

A

Constitutive KRAS activation.

155
Q

Adhesion to cells of the ECM involves integrin binding to these components extracellularly?

Intracellularly?

A

Extra: Collagen, fibronectin and laminin

Intra: Actin and keratin (intermediate filaments)

156
Q

In Polycythemia Vera, the bone marrow is more sensitive to?

A

Growth factors (via JAK Kinase mutation)

157
Q

vWF is inherited in this pattern?

A

AD

158
Q

The surface marker for macrophages is?

A

CD14

159
Q

Wiskott-Aldririch syndrome is characterized by the triad of?

A

Eczema, thrombocytopenia and combined B and T cell deficiencies (infections).

160
Q

Pathology and presentation of cyanide poisoning.

A

Cyanide binds to Fe3+ (ferric) -> inhibition of cytochrome C - oxidase > inhibition of ETC -> switch to lactic acidosis.

Px: red discoloration of skin, tachypnea/cardia, HA -> progress to seizure and death

161
Q

Treatment for cyanide poisoning? MOA?

A

Inhaled amyl nitrite.

MOA; Converts iron in Hgb from Fe2+ -> Fe3+ -> conversion of Hgb to methamoglobin -> binds and sequesters cyanide (has preference for ferric iron state)

162
Q

Anemia of chronic disease is a consequence of chronically elevated cytokines especially?

A

Hepcidin. Inactivates iron channels on enterocytes and macrophages -> decreased iron absorption.

163
Q

What are some of the things that can disrupt INR findings in patient on warfarin?

A

Increase: Decrease in vitamin K (via diet or disruption of colonic flora which produce vitamin K)

Incr/Decr: CYP450 alteration

164
Q

Where are the two places that heme is synthesized?

A

Liver cells (for CYP enzyme system) & Bone marrow fro Hgb use.

165
Q

How does hypocalcemia occur in Multiple Myeloma?

A

Destruction of OPG and upregulation of RANK-L -> activation of osteoclasts and inhibition of osteoblasts (via cytokine secretion)

166
Q

What molecule is considered to be the central regulator of iron homeostasis?

A

Hepcidin. Many of its function is via interaction with ferroporitin (transfers intercellular iron into circulation). High levels -> decrease iron levels. Low levels -> increase iron levels.

167
Q

Cancer related cachexia is driven by __ and occurs via ____ pathway.

A

Cytokines (TNF-alpha & IL6)

Ubiqutin-proteosome pathway (targeted protein degradation)

168
Q

Pure red cell aplasia (absence of erythroid precursors) is associated with these conditions?

A

Thymoma, leukemias (IgG or CD8 inhibit erythropoietic precursors) and parvovirus B19 infection (preferentially attacks proerythroblasts)

169
Q

Proxysmal Nocturnal hemoglbinuria is due to mutated _____. This leads to the unattachment of CD ___ that helps RBC to _____?

A

PIGA gene

CD 55

Inactivate complement

170
Q

What happens in Factor V Leiden?

A

Mutation in Protein C binding site, so it is unable to be inactivated by protein C

171
Q

Patients with Sickle cell often have a ___ deficiency due to?

A

Folic acid deficiency due to increased folic acid requirement due to rapid RBC turnover.

172
Q

What are melanocytes embryologically derived from?

A

Neural crest cells

173
Q

Xeroderma pigmentosum is due to defect in?

A

Nucleotide excision repair caused by UV light

174
Q

Erythema multiforme is a ____ shaped inflammatory skin lesion that typically arises in the setting of_____?
Caused by?

A

Target shaped

Setting of inflammation

deposition if infectious antigen in keratinocytes -> strong cell mediated cytotoxic immune response

175
Q

Keloid formation is due to?

A

Inactivation of TGF-B (promote differentiation of fibroblasts into myofibroblast) on completion of wound repair.

176
Q

Vitamin D analog is used in tx for psoriasis, why?

A

Inhibit T cell and kertinocyte proliferation.

**use corticosteroid as well

177
Q

Along with antinflammatory actions, corticosteroids also affect the skin by?

A

decreasing production of ECM collagen and glycoaminoglycans

178
Q

Deficiency of ascorbic acid can lead to petechial hemorrhages, how?

A

Defect in collage (vitamin C is needed in the hydroxylation of proline; a component of collagen)

  • Pt will also px with gingivitis and impaired wound healing
179
Q

Severity of leprosy is dependent on?

A

TH1 response. If strong -> tuberculoid (TH1 -> macrophage activation). If weak -> lepromatous

180
Q

Acute allergic dermatitis (type IV HS) histology is characterized by?

A

Spongiosis (accumulation of edema fluid in intracellular spaces)

181
Q

Hair loss (androgenetic alopecia) has this inheritance pattern?

A

Polygenic (genetic - hormonal and environmental)

**others- glaucoma, schizophrenia, T2D

182
Q

What is Kobners phenomenon and in what condition is it commonly found?

A

Development of plaques on body surfaces that are prone to trauma/friction

Psoriasis

183
Q

How does late state radiation dermatitis present?

A

Ulcerating skin with hypopigmentation and telangiectasias at site of prior radiotheraphy.

Histo changes: vascular abnormalities & fibroblast proliferation and homogenization of dermal collagen due to Increased TGF-B

**occurs months to years after radiation

184
Q

Features of lichen planus?

A

CD 8 mediated response: Chronic hyperkeratosis
lymphocytic infiltrates at dermo-epidermal junction (interface dermatitis)
Scattered eosinophilic, colloid (civatte) bodies in papillary dermis
Thickened stratum granulosum with saw sooth ridges