U world 6/13/23 Flashcards

1
Q

key features of autism spectrum disorder include

Patients with milder forms of autism spectrum disorder frequently have normal language and cognitive development. Characteristic features include deficits in social communication and reciprocal social interactions, restricted interests, and behavioral rigidity that become more apparent as social and academic demands increase.

A

social communication deficits, and social interactions are restricted with repeated interests and sterotyped behavior.

trouble taking turns in coversations, fixated on sameness and interests

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2
Q

frameshift mutations

A

deletion or insertion of any number of nucleotides that are not a multiple of 3- changes the reading from during protein translation

A frameshift mutation occurs with the deletion/addition of a number of bases not divisible by 3 in the coding region of a gene. Frameshift mutations alter the reading frame of the genetic code, dramatically changing the protein structure and often resulting in the formation of a premature stop codon

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3
Q

intrabdominal infections/abcessess are most common caused by

A

polymicrobial and members of the normal colonic flora

Intraabdominal infections are polymicrobial, with B. fragilis and E. coli being the most prominent organisms isolated.

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4
Q

what are the organisms that are apart of normal colonic flora

A

Bacteroides fragillis, Ecoli, Enterococci and Streptococci

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5
Q

what gram negative rod expresses surface polysaccarhides that have been shown to favor abscess formation?

A

bacteroides fragilis

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6
Q

what are the 2 phases of type IV delayed hypersensitivity

A

sensitzation phase: where cutaneous langerhan cells take up the allergen and present them to Cd4- TH1 and Cd8 cells in the lymph nodes. This results in the clonal expansion of allergen sensitive T cells (takes about 12 days)

Elicitation phase: with reexposure to the allergen the APC present the allergen to the sensitized T cells and the T cell mediated damage that causes a puritis erythema, vesicles and bullae this happes 2 days after reexposure.

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7
Q

in type 1 hypersensitivty what happens

A

initally allergen stimulates TH2 induced B cell heavy chain isotype switching and production of IgE which binds to mast cells

CD40 and CD40 L bind together

reexposure: allergen binds to IGE on mast cells and vasopeptides are released leading to uticaria (minutes)

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8
Q

bullous pemphigoid has autoantibodies against

epidermal and dermal seperation

A

hemidesmosomes

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9
Q

pemphigus vulgaris has autoantibodies against?

A

desmosomes

acatholysis

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10
Q

immune complex deposition in small cutaenous vessels causes

A

cutaneous small vessel vasculittis

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11
Q

what are the symptoms of cutaneous small vessel vasulitis

A

non blanchable purpura and petechiea

caused by medications **extravasation of red blood cells due to vessel wall inflammation

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12
Q

what gives blood its inital purple bluish color

A

hemoglobin containg erythrocytes

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13
Q

what converts heme into billiverdin

A

heme oxygenase

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14
Q

what does heme oxygenase convert heme into

A

biliverdin, carbon monoxide, ferrous iron

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15
Q

what color is biliverdin

A

green

Heme oxygenase converts heme to biliverdin, a pigment that causes the greenish color to develop in bruises several days after an injury.

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16
Q

billiverdin is converted to billirubin by

A

billiverdin reductase

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17
Q

what color is bilirubin

A

yellow

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18
Q

what is the enzyme necessary for conjugating bilirubin

A

5’ diphospho-glucuronyl transferase (UGT)

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19
Q

uroporphyrinogen dercarboxylase def is see in what disease

A

prophyria cutanea tarda

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20
Q

porhobillinogen deaminase def is seen in what disease

A

acute intermittent porphyria

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21
Q

what is ghrelin

A

hormone produced in the stomach that responds to facting, it stimulates apetitie and promotes weight gain

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22
Q

what is leptin

A

hormone produced by fat cells in response to short term food intake and long term adequecy fat stores’

it cats on the hypothalamus to decerase appetite

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23
Q

what blunts leptin action to decrease appetite

A

obestity

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24
Q

during fasting states leptin levels _

A

fall

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25
Q

what is insulin

A

a hormone produced by the pancreatic beta cells in response to high blood glucose levels it decreases appetitie as well.

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26
Q

weight los is associated with _ insulin sensitivity and _ insulin levels

A

greater

lower

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27
Q

caloric restriction and falling fat stores leads to what changes in weight gain hormones

grhelin
insulin
leptin

A

with a decrease in fat stores you would see a decrease in leptin

with caloric restriction aka fasting you would see an increase in ghrelin

with weight loss you will see a decrease in insulin

Ghrelin stimulates appetite and promotes weight gain. Leptin and insulin act in the CNS to decrease appetite. Caloric restriction leads to increased ghrelin levels along with decreased insulin and leptin levels, causing an increase in appetite that can make it difficult to maintain weight loss.

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28
Q

lithium adverse effects

A

diabetes insipidus
hypothyroidism
tremor
ebstein anomaly

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29
Q

valproate adverse effects

A

hepatotoxicity
NTD

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30
Q

carbamazepine adverse effects

A

aplastic anemia, SIADH, NTD

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31
Q

lamotrigene adverse effects

A

benign rash
stevens johnson syndrome

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32
Q

folate derivates are crucial in the synthesis of? (3)

A

nucleic acids, converting homocysteine to methionine, and generation of 1 carbon carriers

33
Q

in order for folate to be effective what form should it be in

A

reduced tetrahydrofolate form of the vitamin

34
Q

what is the RLE of folate metabolism

A

dihydrofolate reductase

35
Q

what happens if there is a thymidylate synthase def

A

dump cant be converted into dTMP so uracil is incorporated into DNA and this leads to DNA breaks and apoptosis

if you supplement thymidine this will decrease the folate metabolic demand to create thymidine and prevent apoptosis of folate deficent cells

(takes 5,10 metheletetrahydrofolate to dihydrofolate)

Folate deficiency inhibits the synthesis of nucleic acids, particularly the formation of thymidine. This leads to defective DNA synthesis and increased apoptosis affecting hemopoietic cells (megaloblastic anemia). Thymidine supplementation bypasses the enzyme thymidylate synthase and can reduce erythroid cell apoptosis

36
Q

patient who is thin with brusises, gingival bleeding with normal platelets and coagulation factors have a _ def

A

vitamin C deficiency (scurvy)- insufficent intake

37
Q

is vitamin C a water soluble vitamin

A

yes

it aids in collagen synthesis

38
Q

what are the symptoms of vitamin C def

A

perifollicular hyperkeratosis

coiled hair

poor wound healing

fragility of vasculature ( gingival bleeding, ecchymoses, petichiae

39
Q

what is the most commmon cause of hyponatremia following a subarachnoid hemorrhage

A

syndrome of inapproporiate antidiuretic hormone

hypothalamic damage after a SAH can trigger excessive secretion of ADH can cause retention of water and high concentrated urine

40
Q

ADH is normally released when and from where

A

from the hypothalamus and posterior pituitary in response to elevated serum osmolality (SALT) or decreased blood volume

41
Q

in primary polydipsia _ can lead to excessive water intake and hyponatremia with normal levels of ADH

A

defective central thirst regulation

(usually a psych condition)

42
Q

in an expansive population pyramid what is going on

A

it is broad at the bottom and narrow at the top

there are high birth rates and high mortality rates meaning there is a short life expectancy and the population is young and growing ( common in developing countries)

43
Q

in a stationary population pyramid what is going on

A

the graph is somewhat rectangular indicating a stable population

that has declining birthrates, low mortality rates, and long life extectancies

44
Q

what is going on in a constrictive population graph

A

narrow bottom

this population is shrinking and has a very low birthwat and mortality rates with long life expectancies

(advanced countries)

45
Q

warfarin MOA

A

anticoagulant that inhibits the activation (carboxylation) of K dependent clotting factors (vitamin K antagonist) especially favtor VII which will then prolong PT time. (extrinsic pathway )

can look at INR too

46
Q

side effect of warfarin

A

bleeding (reversal with FFP or vitamin K)

skin necrosis (transiet hypercoaguable state)

teratogenic

usually just bridges heparin treatment

47
Q

aPTT is used to monitor

A

heparin (intrinsic pathway_

48
Q

bleeding tume is used for the assessment of

A

platelet function

49
Q

the combination of decreased fibrinogen levels and fibrin split products like d-dimer is characteristic of

A

disseminated intravascular coagulation (DIC)

50
Q

tracheoesophageal fistula with esophageal atreas results from

A

failure or the primitive foregut to appropriately divide into seperate tracheal and esophageal structures

51
Q

symptoms of a TEF/EA in a newborn

A

polyhydraminos on ultrasound (cant swallow amniotic fluid)

drooling, choking, coughing and cyanosis with feeds

52
Q

choanal atresia

A

congenital obstruction of posterior nasal passages

upper airway obstruction and cyanosis with feeding cannot pass nasal gastric tube through the nares

53
Q

standard precautions

A

all patients require standard precaustions

handwashing before and after patient
proper disposal of instruments

54
Q

C diff infection requires what precaustions

A

contact precautions

wash with soap and water gown, and non sterile gloves, private room

55
Q

what are the measures for contact precautions and what organisms call for contact precautions

A

hand hygeine

nonsterile gloves

gown

private room

MDR organsim, enteric organisms- C. diff, and scabies

56
Q

what are airborne precautions and when should you employ them

A

insolated room with negative pressure ventilation and respirator mask to avoid aerosolized particles less than 5 microns

  • tuberculosis, varicella
57
Q

sterile gloves and gowns are used for

A

minor procedures or surgeries

58
Q

what are the labs associated with pagets disease of bone

A

elevated alkaline phospatase

normal calcium and phosphorus

thickening of cortical and trabecular bone

Paget disease of bone is characterized by excessive and disordered bone formation. It commonly affects the skull, long bones, and vertebral column. The increased formation of new bone is associated with an elevated serum alkaline phosphatase level. Radiographs shows lytic or mixed lytic-sclerotic lesions, thickening of cortical and trabecular bone, and bony deformitie

59
Q

trigeminal neuralgia

A

compression of the trigeminal nerve root as it enters the pons leading to demyelination and atrophy of the nerve

  • compression due to an abnormal vascular loop of the superior cerebellar artery

symptoms: paroxysmal attacks of neuropathic shock like pain, unilateral, brushing teeth is a trigger, no other neurologic deficits

60
Q

dermatomyositis is a systemic autoimmune disease with proximal muscle weakness and skin features (helitrope rash, grotton papules) and perifasciular inflammation. It can occur alone or as a _

A

paraneoplastic syndrome with underlying adenocarcinoma

61
Q

outer cortex of the lymph node consits of?

A

primary and secondary lymphoid follicles and CD4+ cells (T and B cell interaction)

62
Q

paracortical zone of the lymph node contains what

A

T lymphocytes and dendritic cells

63
Q

absence of B cells leads to what structures not being formed

A

germinal centers and primary lymphoid follicles

64
Q

proximal and distal attachment of posterior cruciate ligament

A

medial femoral condyle
posterior intercondylar tibia

posterior drawer test*

65
Q

proximal and distal attachment of anterior cruciate ligament

A

lateral femoral condyle
anterior intercodylar area of the tibia

(anterior drawer test)

66
Q

proximal and distal attachement of lateral collateral ligament

A

lateral epidcondyle of the femur
fibular head

(resists varus force)

67
Q

proximal and distal attachment of the medial collateral ligament

A

medial epicondyle of the femur

medial condyle of the tibia

(resists valgus force)

68
Q

what is a common manifestation of a posterior cerebral artery stroke regarding vision

A

homonymous hemianopia ( same half of the visiual field is affected in both eyes) with macular sparing

homonymous hemianopia ( optic radiations)

The most common finding with posterior cerebral artery stroke is contralateral homonymous hemianopia. The macula is often spared because there is collateral circulation from the middle cerebral artery to the occipital pole, the area that processes central vision.

69
Q

the posterior cerebral artery supplies the

A

occipital lobe which contains the primary visual cortex

70
Q

occlusion of the central retinal artery symptoms

A

sudden painless complete loss of vision in 1 eye

71
Q

PICA injury causes lateral medullary syndrome what is this

A

pain and temperature loss in the contralteral body and ipsilateral face, ipsilateral bulbar weakness, vertigo, ataxia, and horner syndrome

72
Q

afferent pupillary defect symptoms (demylination of the optic nerve)

A

absent bilateral pupillary constriction when shining light into affected eye

normal pupillary constiction of both eyes with light in the affected eye

The optic nerve carries the afferent limb of the pupillary light reflex pathway, which activates the efferent limb bilaterally and causes both direct and consensual pupillary constriction. Unilateral optic nerve lesions (eg, demyelination due to optic neuritis) can result in impaired pupillary constriction bilaterally when light enters the eye ipsilateral to the lesion. When light enters the contralateral eye, pupillary constriction occurs normally in both eyes.

73
Q

defect in the efferent portion of the pupillary light reflec pathway carried by CN III causes

A

pupillary constriction in the eye ipsilateral to the lesion is impaired when light is shone in either eye

pupillary constriction in the contralateral eye occurs normally (preserved afferent input)

74
Q

side effects of lopp diuretics (furosemide)

A

otocivity (hearing impairement, deafness, tinnitus), hypokalemia, hypomagnesiuma, and hypocalcemia

75
Q

in a leukamoid reaction due to infection there is signifigant leukocytosis: what do the neutrophils look like and what are the leukocyte alkaline phosphate levels

A

they can be mature with basophilic oval inclusions known as dohle bodies, they can be bands, and precursors

keukocyte alkaline phosphate will be increased or normal (in CML they will be decreased)

76
Q

what is basophilic stippling

A

ribosomal precipatiates (blue granules) in the cytoplasm of red blood cells that are seen in lead positioning, thalassemias or alcohol use disorder

77
Q

what is a necrotic infection of the pulmonary parenchyma that has copious sputum production and caviation with air fluid level

A

lung abcess

78
Q

what are the key players in formation of a lung abcess

A

neutrophils

they release cytotoxic granules from lyosomes containing myeloperoxidase to destroy the bacteria and this can cause a lung abcess to occur or liquefying necrosis

79
Q

what are the physiological changes to high altitude

peripheral chemoreceptors:
lungs:
sympathetics:
brain:

A

peripheral chemoreceptors: stimulate hyperventilation and cause respiratory alkalosis ( shift left)
lungs: vasocontriction of the pulmonary vasculature which increases resistance
sympathetics: increased heart rate and cardiac output
brain: cerebral vasodilation to increase cerebral blood flow

An array of physiologic responses takes place to maintain adequate O2 delivery to the tissues in the hypoxic environment at high altitude. These include hypoxic pulmonary vasoconstriction (increased pulmonary vascular resistance), increased sympathetic activity to increase cardiac output, and aldosterone suppression to reduce plasma volume.