April 5 Flashcards

1
Q

What does HPV have a tropism for and where do lesions most often occur?

A

Stratified squamous epithelium

True vocal cords
Cervix
Anus

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2
Q

What is Treacher Collins syndrome

A

Neural crest dysfunction
–Mandibular hypoplasia, facial abnormalities caused by abnormal development of the 1st and 2nd branchial arches

1st–trigeminal nerve, mandible, maxilla, zygoma, incus and malleus

2nd– facial nerve, stapes, styloid process, lessor horn of the hyoid

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3
Q

What two GI hormones cause an increase in Pancreatic HCO3- release and what cells are they produced from?

A

Cholecystokinin –I cells in small intestine

Secretin– S cells in the small intestine

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4
Q

What is the deficient enzyme with Pompe disease and how does it present?

A

Lysosomal a-1,4-glucosidase deficiency

Pompe trashes the pump–heart, liver and muscle

Cardiomegaly, hypertrophic cardiomyopathy, exercise intolerance, marcoglossia, hypotonia and systemic findings leading to early death

PAS + lysosomes on muscle biopsy

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5
Q

What are the 3 stop codons?

A

UAA
UAG
UGA

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6
Q

Lesion to the anterior cerebral artery can cause what symptoms?

A

Contralateral paralysis and sensory loss–lower limb

Urinary incontinence
Behavioral changes

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7
Q

What class of glucose transport proteins are insulin-mediated?

A

GLUT-4 which are on muscle cells and adipocytes

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8
Q

Where are the insulin-independent glucose transporters located?

A

GLUT- 1, 2, 3 and 5

Brain
Intestine
RBCs
Kidney 
Liver
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9
Q

What is the cause of Mallory-Weiss syndrome?

A

Vomiting–increased intraabdominal pressure

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10
Q

What causes a right shift in the O2 dissociation curve?

A

Right shift–ACE BATs right handed

Acid
CO2
Exercise
2,3-BPG
Altitude 
Temperature
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11
Q

What is the responsibility of the Golgi tendon system?

A

Negative feedback that monitors and maintains muscle force –sensitive to increases in muscle tension

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12
Q

Mucosal defects that do NOT fully extend through the muscularis mucosa?

A

Erosions

-Can be caused by NSAIDs, Burns (curling), Brain injury (Cushing), acute stress, ETOH or tobacco use

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13
Q

What is defective in Chronic granulomatous disease and what two test are used for dx?

A

Defect of NADPH oxidase

Abnormal dihydrorhodamine–decreased green fluorescence

Nitroblue tetrazolium dye reduction test

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14
Q

What is the cause of stress incontinence?

A

Urethral sphincter dysfunction

Leakage with increased intra-abdominal pressure–sneezing/lifting

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15
Q

Acute transplant rejection is what type of HSR?

A

Type IV–CD8+ T cell mediated against donor MHCs

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16
Q

Dilation of the coronary sinus is seen with what disease?

A

Pulmonary HTN –due to elevated right heart pressures

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17
Q

What is the most likely finding with an Uncal herniation?

A

Medial temporal lobe herniates and compresses the ipsilateral CN III–BLOWN PUPIL—dilated pupil

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18
Q

What is transthyretin and what does it cause?

A

Protein tetramer produced by the liver that can mutate, misfold and infiltrate the myocardium causing diastolic heart failure due to decreased ventricle compliance

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19
Q

If very long chain fatty acids or branched chain fatty acids are unable to be oxidized what is the most likely defect?

A

In born error of metabolism with a defect in peroxisomes

Beta oxidation–oxidizes VLCFAs
Alpha oxidation–oxidized BCFAs

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20
Q

What occurs within the nucleolus of a cell–stains basophilic (DARK)?

A

transcription of rRNA–using RNA polymerase I

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21
Q

What enzyme is deficient in Porphyria cutanea trada and how does it present?

A

Uroporphyrinogen decarboxylase

Accumulation of Uroporphyrin–tea colored urine

Photosensitivity–blister and vesicle formation on sun-exposed areas as well as edema, pruritus, pain and erythema

22
Q

What type of HSR is serum sickness?

A

Type III HSR–involves immune complex deposition and fixation of complement that leads to tissue damage

Fever, urticaria, arthralgia, proteinuria, lymphadenopathy–occur 5-10 days after antigen exposure

23
Q

What 2 organisms are the most prominent within the intra-abdominal cavity?

A

B. fragilis

E. coli

24
Q

Where does ADH act on within the kidney?

A

Medullary segment of the collecting duct –increases urea and water reabsorption

25
Q

Wide, fixed splitting of S2 is characteristic of what heart defect and what irreversible problem can this lead to?

A

ASD–can lead to pulmonary vascular sclerosis

26
Q

What heart chamber is closest to the esophagus and would be closest to the probe during TEE?

A

Left atrium

27
Q

What structure sits posterior to the esophagus?

A

Descending Aorta

28
Q

What does activation of the GABA-A receptor cause?

A

Increase in Cl- entering the cell causing hyper polarization

29
Q

The uterine arteries branch off of what arteries?

A

Internal iliac arteries

30
Q

What decreases during exercise compared to resting?

A

TPR decreases due to vasodilation to feed working muscles and maximize CO

31
Q

What is it called where there is the presence of both normal and mutated mtDNA, resulting in variable expression in mitochondrially inherited disease?

A

Heteroplasmy

Important mito diseases:

  • Leber hereditary optic neuropathy–leads to bilateral vision loss
  • Myoclonic epilepsy with ragged-red fibers–myoclonic seizures and myopathy associated with exercise
  • Mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes–MELAS
32
Q

What 2 lung parameters are markedly increased with emphysema?

A

Total lung capacity

Functional residual capacity

33
Q

What activates Azathioprine and 6-mercaptopurine and what inactivates them? What is CI with the use of these meds?

A

Activated by HGPRT
Inactivated by xanthine oxidase

CI with allopurinol or febuxostat–increase toxicity

34
Q

Administration of NE will cause what 3 things to occur–include what occurs within the cell?

A

a1– increased IP3–vasoconstriction
a2–decreased cAMP –decreased release of NE and insulin
B1–increased cAMP–increased contractility

35
Q

What is the cause of B-thalassemia?

A

Caused by a variety of mutations affecting the transcription, processing, and translation of B-globin mRNA

36
Q

Reed-Sternberg cells =

A

Hodgkin lymphoma

37
Q

What diseases mimic hydrocephalus (hydrocephalus ex vacuo) where there is no increase in ICP?

A

Alzheimer disease
Advanced HIV
Pick disease

Caused by brain atrophy

38
Q

What provides sensory to the anterior 2/3 of the tongue?

A
Mandibular branch (V3) of trigeminal 
--anything anterior to the terminal sulcus and foramen cecum
39
Q

What provides sensory to the posterior 1/3 of the tongue?

A

Glossopharyngeal nerve IX

–anything posterior to the terminal sulcus and foramen cecum

40
Q

How is number need to harm calculated?

A

NNH= 1/AR

AR= a/a+b - c/c+d

41
Q

What to homeobox or Hox genes encode for?

A

Transcription factors –that bind to the regulatory region on DNA

Involved in segmental organization of embryo in a craniocaudal direction
–Hox mutation–> appendages in wrong locations

42
Q

What cranial nerve is responsible for monitoring carotid body and sinus chemo and baroreceptors and what cranial nerve is responsible for monitoring aortic arch chemo and baroreceptors?

A

Carotid body and sinus–Glossopharyngeal IX

Aortic arch–Vagus X

43
Q

What is the cause of familial hypocalciuric hypercalcemia?

A

Defect in the CaSR– G-protein coupled receptor–requiring higher than normal Ca2+ levels in order to suppress PTH

  • -Hypercalcemia
  • -boarderline high PTH
  • -Low urinary Ca
44
Q

Mnemonic to remember the carpal bones?

A

So Long To Pinky, Here Comes The Thumb

Scaphoid
Lunate
Triquetrum
Pisiform
Hamate
Capitate
Trapezoid
Trapezium
45
Q

What does undigested lactose do to the stool?

A

Causes osmotic diarrhea and acidification of the stool

46
Q

What is defective when sideroblastic anemia is present?

A

Defect in heme synthesis due to X-linked defect in d-ALA synthase gene

B6 is a cofactor for d-ALA synthase–so this can be seen with isoniazid tx

47
Q

Eczema, recurrent infections and thrombocytopenia is the triad for what disease?

A

Wiskott-Aldrich syndrome

WATER

48
Q

What drug is used for short-term tx of insomnia that has a much lower risk of tolerance and dependence?

A

Zolpidem

49
Q

Oral contraceptives are used for treating hirsutism seen with PCOS. What is the mechanism by which this occurs?

A

Oral contraceptives suppress pituitary LH secretion leading to decreased ovarian androgen production

50
Q

What joints are involved with rheumatoid arthritis?

A

MCP
PIP
Wrist
Cervical spine