Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

398 pharm/patho > final > Flashcards

final Flashcards

1
Q

glucagon

A

hormone that increases the amount of glucose in your blood

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

insulin

A

hormone that decreases the amount of glucose in your blood

produced by beta cells in the pancreas

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Type 1 DM

A

absolute insulin deficiency-> caused by autoimmune attack on beta cells, which decreases insulin secretion
peak onset 11-13 yo
higher rates in whites
etiology: genetic component/env factors

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

clinical manifestations of type 1 dm

reflecting an increased bl glucose, since no insulin around

A
  • polyuria: bc sugar spilling over into urine, and water follows…increased urine
  • polydipsia: body senses being hypovolemic, which triggers thirst
  • polyphagia: hungry, but losing wt: bc of fluid loss and body breaking down fat stores/protein
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

s/s of type 1

A

increased thirst…polyuria; weakness/fatigue; blurred vision; nausea; tingling in hands (NS dysfunction); slow healing of wounds…incresed risk for infection; hunger…wt loss

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

type 1 evaluation

A
  • increased ketone and glucose levels in urine
  • random bl glucose screen >200mg/dl (+ s/s)
  • fasting bl glucose >126mg/dl
  • glucose conc >200mg/dl 2h post 75g OGTT (testing done @ 28w pregnancy)
  • HgA1C >6.5% (glucose sticks to hgb in away that is measurable); no fasting req; measured over time (3m) v 1 d
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

treatment type 1

A
  • insulin therapy (only option)
  • diet/meal planning- admin insulin based on consumption
  • exercise- decreases need for insulin
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

hypoglycemia

cause, onset, s/s

A
  • take too much insulin
  • happens quickly
  • TIRED: tacky, irritable, restless, excessive hunger, diaphoresis/depression
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q 
diabetic ketoacidosis
(causes, presentation)
A
  • long term dev
  • causes: infest, stress, poor insulin mgmt
  • result of increased lipolysis (adipose breakdown)-> conversion to ketone bodiess->causes acidity (H+)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

clinical man of diabetic ketoacidosis

A
  • clin man (think metabolic acidosis):
    1 breath fast/deep (Kussmaul) to breathe out acetone…fruity breath!
    2 dehydration bc of increased urination
    3 hyperkalemia: body’s buffer system will try to exchange H for K to decrease acidity, but results in excess K bc…no insulin available to regulate Na/K pump
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Type 2 DM

A
  • 90% of diabetes cases
  • higher risk for non whites and elderly
  • risks: aging, sedentary, obesity, genetics, pt w metabolic syndrome (pre diabetes)…obesity, htn, dyslipedimia (cholesterol)
  • body becomes resistant to the action of insulin on tissues (desensitized)….which causes a requirement for more insulin AND lowered glucose utilization
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Type 2 DM evaluation

A
  • urinalysis for glucose presentation
  • random bl glucose screen >200mg/dl (+ s/s)
  • fasting bl glucose >126mg/dl
  • bl blucose >200mg/dl 2h post 75g OGTT
  • HgA1C >6.5%
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

type 2 DM treatment

A

diet/exercise…wt loss (to improve glucose tol- cells become more sensitive to insulin)
meds: oral at beginning…insulin over time
monitor for complications/chronic changes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Long term consequences of DM (hyperglycemia)

*seen less in type 1 since they’ll go into ketoacidosis before these things appear

A
  • eyes: diabetic retinopathy; blurred vision
  • kidneys: failure
  • CV: hpt/failure
  • cerebrovascular: risk for stroke
  • neuropathy
  • peripheral vasculature: decreased perfusion…vascular damage…wounds can’t heal (neuropathy)…amputation/ gangrene
  • Infection
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

gestational diabetes
(cause, risk, treatment, complications for mom/baby)

*all prego’s screened at 28w - OGTT

A
  • cause: placental hormones/wt gain cause insulin resistance & inability to pro amt of insulin nec during preg
  • risk: fam hx; age; prev gest diabi; prev macrosomic preg
  • treatment: nutrition/exercise; insulin if lifestyle changes don’t resolve
  • complications for baby: >4kg; neonatal hypoglycemia when cord cut (may need IV); still birth
  • comp for mom: increased risk for dev DM 10-20y post
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

glucocorticoids

A

cortisol:

E conversion; immune response, inflamm, stress

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Minteralocorticoids

A

Aldosterone:

Na and fluid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Androgens

A

sex hormones

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Addison’s Disease

A
  • primary adrenocortical insufficiency
  • destruction of adrenal cortex–>decreased segregation of glucocorticoids, mineralocorticoids, and androgens
  • causes: removal of adrenal gland; neoplasm (abnormal tissue growth); Tb; histoplasmosis; cytomegalovirus; autoimmune disease
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

pathology/clinical man of Addison’s disease

A
  • decreased cortisol = no E; no sugar…hypoglycemic
  • decreased aldosterone = decreased Na/H2o–> hypotension
  • decreased androgens = change body dist/hair
  • hyperkalemia = acidosis…fatigue, dehydration, renal fail
  • ACTH isn’t suppressed= change pigmentation (bronzing of skin)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Evaluation/Treatment of Addison’s disease

A

Eval:

  • lab: plasma cortisol levels
  • ACTH stimulation test: measure cortisol levels
  • imaging: CT/MRI of adrenal glands

Treatment: replacement hormones; stress dosing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Cushing’s Disease

A
  • hypercortisolism
  • cluster of clinical abnormalities caused by excessive adrenocortical hormones or related corticosteroids
  • causes:
    pituitary hyper secretion of ACTH
    tumor
    admin of synthetic glucocorticoids/steroids
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

clinical man of cushing’s disease

A
  • increased cortisol: hyperglycemia; moon face; fat deposits on back/shoulders; mood changes
  • Na/H2O retention: edema; hpt
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Eval/Treat Cushing’s disease

A

Eval:

  • lab: dexamethasone suppression test: cortisol will stay high if you have the disease
  • imaging: U/S, CT, MRI of pituitary or adrenal gland

treat:
- surgery/radiation for tumors
- pharmacotherapy (mgmt): anti-hpt; K; diuretics

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

meningitis

A
  • inflamm/inf of the brain/sp cord
  • from norm inhabitants that get into wrong place; maybe bc of bl inf, trauma, fracture
  • young, old and immunocomp more susceptible
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

bacterial meningitis

A
  • septic
  • most common
  • streptococcus pneumaniae: most common in adults, 2nd most common in peds
  • neisseria meningitidis: most common in peds
  • e coli/group B hemolytic streptococci: most comm newborns
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

bacterial vs viral meningitis

A

septic vs aseptic

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

pathophysiology of meningitis

3 phases

A

1 invading organism: bacteria, toxins, viruses, fungi, parasites
2 inflamm response: neutrophils come fight and bring exudate w/ them..things get clogged… CSF changes due to inability to flow easily
3 cerebral changes: inability to flow = increase in intracranial pressure…disrupt of bl supply (ischemia) …exudate continues to exacerbate inflamm response

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Infectious clinical manifestations of meningitis

A

fever, tachycardia, chills, petechial rash

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

neurologic clinical manifestations of meningitis

A 
(all related to increased ICP)
decreased LOC
cranial nerve involvement (assess PERRLA)
seizures*
irritability*
delirium
*everything is more sensitive bc of ICP
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

clinical man of meningeal irritation

A

(along spinal cord)
throbbing h/a
photophobia (light sensitivity)
nuchal rigidity (stiff neck…very cautious of mvmt)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Kernig’s sign

A

presentation of meningeal irritation
child laying…flex hip 90 deg…extend knee
if pos for meningeal irritation, this will be painful

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Brudzinski’s sign

A

presentation of meningeal irritation
bend child’s neck up so chin to chest
if pos for meningeal irritation, pt will bend knees in response to pain

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

Eval of meningitis

A

lumbar puncture: culture/gram stain; increased pressure; CSF
culture will show:
- high… WBC, neutrophils and protein
- normal…glucose (=viral/aseptic)
- low…glucose (=bacterial/septic) *bc bacteria eating glucose!

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

treatment of meningitis

A

bacterial: IV ab’s
viral: antivirals/steroids
manage complications
provide support: rest, dark room, decreased stimuli/noise

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

prevention of meningitis

A

immunizations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

Intracranial pressure

A

-pressure exerted by contents of the cranium (0-15 mg Hg)
-cranium has a fixed vol that holds brain matter, CSF, and blood
(not fixed in babies until fontanelles close)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

common causes of increased ICP

A

in adults: stroke, trauma, tumor

n peds: structural malform, inf, tumor

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

etiology of increased ICP

A

1 cerebral edema: accumulation of fluid
2 space-occupying processes: tumor, hematoma, access
3 hydrocephalus: excessive accumulation of CSF

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

types of cerebral edema

A

1 vasogenic: interstitial edema (cap pressure/damage)
- extravasation of electrolytes, proteins and fluids
- results in stroke, ischemia, HTN, tumors
2 cytotoxic: intracellular edema
- ischemic tissue swells due to deficiency in cellular ATP
- results in cardiac arrest/severe hypoxia

*2 types often occurring together

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

clinical man of increased ICP in adults

A 
h/a
change in LOC
change in eyes: pupils/vision
vomiting
change in VS: Cushing's Triad
seizures*
decreased motor function*
posturing*

*late signs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

Cushing’s triad

A

increased systolic BP
decreased pulse
altered respiratory pattern

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

clinical man of increased ICP in infants

A 
bulging fontanelles
increased head circumf (why we continue to measure until font close)
high pitched cry
poor feeding
sun-setting eyes
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

eval of increased ICP

A
  • imaging: tumor? bleed? what’s causing?…
  • lumbar puncture:
    measure ‘opening pressure’– increased ICP = fl rises higher than norm
    may be a continuous drain or open/close
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

treatment of increased ICP

A

treat underlying cause
monitor/alleviate pressure
cerebral oxygenation (not SP o2)
pharm

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

def of seizures

A

alteration in membrane potential that makes certain neurons abnormally hyperactive and hypersensitive to changes

interaction of complex genetic mutations with environmental effects that cause issues

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

etiology of seizures

A

different causes across the lifespan; 1/2 are idiopathic, which makes treatment hard

neonates: birth defects, inf, injury
peds: genetic, febrile seizures, trauma
adults: degenerative brain disease/cerebrovasc disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

seizure classification

A

based on symptoms/ECG features
(but brain is fine in bw, which makes it hard to capture activity…why is why they provoke one to occur when they can monitor it)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

Generalized seizure

A

entire brain surface is affected
involvement of thalamus and reticular activating system results in loss of consciousness
-absence/petite mal: staring episodes; hard to detect
-myoclonic: single/several jerking attacks
-atonic: drop attacks/fall down
-tonic-clonic: jerking of many muscles
other types: atypical absence, tonic, clonic

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

Partial seizure

simple v complex

A

limited to one brain hemisphere

  • simple - no impairment of consciousness/change in LOC; can be motor, sensory, and /or autonomic
  • complex - impairment of consciousness
  • secondary generalized- begins partial but then involves both hemispheres
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

seizures triggered by…

A

things that activate neurons or lower ability of neurons to fire
very individual
ie: infection; drinking; trauma; drugs; increased stimuli

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

epileptogenic focus

A

focusing on where seizure starts

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

prodromal/aura

A

subjective sense a pt has that a seizure is about to occur

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

post ictal

A

period after seizure when pt has regain of consciousness; deep coma/deep sleep;
recovery can last several hours

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

diagnosing seizures

A 
history (video)/physical
neuro exam
EEG
labs: electrolyte imbalance- trigger/cause?
imaging: tumor? malformation?
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

treatment of seizures

A
  • airway: risk for aspiration; have suction nearby; *don’t stick anything in their mouth in attempt to keep airway open
  • injury: clear the environment
  • treat underlying cause
  • pharm: goal is mono therapy, but usually need 2+
  • pt edu to avoid triggers
  • good documentation
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

febrile seizure

A
  • seizure accompanied by fever (>100.4) w/out CNS involvement (no infectious process going on)
  • primarily bw 6mo-5y
  • etiology: genetics and env
  • simple: single/short
  • complex: reoccur/prolonged
    they can norm be managed at home
    if you have one, likely to have more…increased risk for epilepsy
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

asthma

A 
reversible obstructive airway disease characterized by 
1 bronchospasms (obstruction)
2 inflammation & edema (mucus)
3 reactivity to variety of stimuli

leading cause of acute and chronic illness in children

most frequent admitting diagnosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
59
Q

obstructive

A

air can’t get OUT; gets in fine, and then gets stuck; children with asthma have increased risk of COPD later in life

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
60
Q

risk factors associated with astha

A 
high risk populations: af am; hispanic
living in the inner city (allergens/pollutants)
premature/low birth wt
fam hx
allergies
eczema
low SES
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
61
Q

classifications of asthma (4)

A
  • intrinsic/non allergenic: usually adult onset; no hx of allergies; respiratory inf/psychological
  • extrinsic/allergenic: triggered by things like pollen, dust, dust mites, roaches, drugs, chemicals, MSG, alcohol
  • exercise induced: medicate before exercising
  • status asthmaticus: ongoing, uncontrollable asthma attach; life-threatening
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
62
Q

asthma pathophysiology: early response

A

INFLAMMATION
allergen binds to IgE on mast cells
degranulation of mast cells
mediators are released (histamine, leukotrienes, prostaglandins, TNF-IL-I
vasodilation, increased permeability, bronchospasm, and edema/mucus secretion
increased Ach–>constricts sm muscle and mucus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
63
Q

clinical manifestations of asthma

A 
wheezing: sound of vibrations through narrow airways; don't go away w cough; sound of wheeze on insp v exp signals diff levels of severity
cough (night time only)
feelings of chest tightness
sputum
tachycardia = hypoxemia
tachypnea
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
64
Q

severe clinical man of asthma

A

cyanosis
retractions/nasal flaring
decreased breath sounds= ‘silent chest’- so much inflamm/airways so tight
agitation? check pulse ox…sign of low o2
can’t speak in complete sentences
pulsus paradoxus (decreased systolic pressure during insp)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
65
Q

bronchioloitis

A
  • inflammation of the bronchioles (lower respiratory tract) usually 2ndary to infectious agents (ie: RSV, flu, bacteria)
  • seasonal: nov to april
  • premie’s esp at risk! immunizations to target
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
66
Q

bronchioloitis @ cellular level

A

viral attack leads to necrosis of bronchial epithelium…mucus produced=obstruction…leads to

  • inflammatory exudate
  • release of chemical mediators (constriction)
  • inflammation- fibrosis and narrowing
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
67
Q

bronchiolitis: changes to breathing mechanisms

A
  • air trapping: hyperinflation- overextended bc alveoli can’t open/close like normal); alveoli often collapsed
  • decreased compliance: atelectasis (complete/partial lung collapse)
  • increased work of breathing
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
68
Q

clinical man of bronchiolitis

A

rhinorrhea (runny nose/snot)
tight cough: diff to feed/risk for aspiration
decreased app, lethargy
fever
tachypnea and resp distress (retractions)
abnormal ausculatory sounds: wheezing/ronchi
x-ray showing hyper expanded lunch, infiltrates, atelectasis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
69
Q

tx for bronchiolitis

A

supp o2
increased hydration (so mucus can run out easier)
inhaled hypertonic saline
bronchodilators/steroids (not so much anymore, cause not treating inflamm problem)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
70
Q

pulmonary embolus

A

undissolved detached material that occludes bl vessels of the pulmonary vasculature
90% originate from DVT’s
can also be fat, air and amniotic fluid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
71
Q

risk factors for pulmonary embolus

A

virchow’s triad

impact depends on size, area of circulatory impairment, and health status of pt

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
72
Q

clinical man of pulmonary embolus

A

restlessness/apprehension/anxiety *pulse oximetry is first sign of hypoxia
DYSPNEA
late signs…..
chest pain
tachy/tachypnea
hemoptysis (not nec every case)
…progress to heart failure, shock, respiratory arrest

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
73
Q

tx for pulmonary embolus

A

PREVENTION
resp support
thrombolytic therapy
heparin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
74
Q

dx for pulmonary embolus

A

hx/physical
chest xray/CT
ABG (respiratory alkalotic)
elevated d-dimer (sensitive but not specific)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
75
Q

saturable PK

A

half life is dep on the dose
a lower dose will hav a shorter half life

ie: phenytoin *very small therapeutic range, so easy to reach toxicity

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
76
Q 
auto induction 
(as related to PK)
A

as therapy continues, the drug’s half life will decrease

therefore in order to practice effective therapy, you must start with a low dose and slowly titrate (over time/weekly) to avoid kickstarting pt’s metabolism and not reaching a therapeutic range (which administering a big bolus would do)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
77
Q

chromosomal anomalies

mutations

A

abnormal number
abnormal structure
can be autosome or sex* chromosome
*more common/less debilitating than autosomal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
78
Q

mendelian single-gene disorders

A 
autosomal dominant
autosomal recessive
x linked (sex-linked); gametes
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
79
Q

euploidy

A

46 chromosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
80
Q

aneuploidy

A

anything other than 46 chromosomes

81
Q

monosomy

A

deficiency of a chromosome

*loss of chromosome more serious than too much

82
Q

polysomy

A

too many chromosomes

ie: down’s sydrome

83
Q

nondisjunction

A

not forming correctly
usually the cause of genome mutations during meiosis
ie: down’s–>disjunction of chromosome 21

84
Q 
abnormal structure 
(chromosome mutations)
A 
has a normal number, but abnormal structure:
deletion
duplication
inversion
translocation
point mutation
frameshift mutation
85
Q

point mutation

A

substitution of a single base pair
2 poss outcomes:
1 base pair change causes a change in amino acid coded (bad)
2 base pair change creates same amino acid as originally intended to be coded (not bad)

86
Q

frameshift mutation

A

addition or deletion of 1 or 2 nucleotides–> changes the reading frame, and all codons after are now incorrect

87
Q

autosomal recessive disorders

A

due to mutation of a recessive gene on one of the autosomes
-males/fem equally affected
-unaffected (carrier) may transmit the disease to offspring
-may experience…delay of onset, incomplete penetrance (gene expression), and variable expressivity
ie: cystic fibrosis, sickle cell
AA= nothing
Aa= carrier
aa= affected

88
Q

autosomal dominant disorders

A

due to mutation of a dominant gene on one of the autosomes
males/fem equally affected
*affected ind usually has affected parent; no generation skipped; only takes 1 dominant allele to affect offspring
unaffected ind (ie carriers) do not transmit the disease
ie: huntingtons disease
AA (homozygous) affected
Aa (heterozygous) affected
aa nothing

89
Q

x linked recessive inheritance

A
  • seen more often in males (bc they only have one X)
  • can skip generations via carrier female
  • never passed from father to son (bc father’s only pass a Y to the son)
  • if father affected, it will be passed to all his daughters; -whether or not the daughter is affected or simply a carrier then depends on mom
90
Q

multifactorial disorders

polygenic

A

polygenic traits: traits that result from several genes acting together
multifactorial: can’t predict the outcome; genes make the individual susceptible (ie: diabetes, hptn)
-env factors may trigger susceptibility or infl the expression of a trait
difficult to predict occurrence but “runs in families”

91
Q

penetrance

re multifactoral disorders

A

% in which gene is expressed…

% of individuals w/ a given genotype who exhibit the phenotype associated with that genotype

92
Q

expressivity

re multifactoral disorders

A

level of expression…

extent of variation in phenotype associated with a particular genotype

93
Q

penetrance v expressivity

A

both terms quantify the modification of gene expression by varying environmental and genetic background

94
Q

variable penetrance

A

explains things that skip generations

95
Q

variable expressivity

A

explained by the env and other genes expressing the same trait

96
Q

variable penetrance and expressivity

A

(??)

97
Q

congenital

A

present at birth
may or may not be hereditary
de novo - from new
could be result of deviation in utero development

98
Q

heriditary

A

inherited genetically

99
Q

down syndrome

A

“trisomy 21”
extra copy of chromosome 21
most common of the chromosomal disorders (1 in 700)
risk increases with maternal age

100
Q

pathophysiology of down syndrome

A
  • caused by nondisjunction (95% of cases): pair of 21st chromosome fails to separate in meiosis
  • caused by translocation (4%): full or partial copy of chromosome 21 attaches to another chromosome
  • caused by mosaicism (1%): some cells have 46 chromosomes (normal), and some cells have 47 chromosomes (abnormal- an extra 21st chromosome)
101
Q

characteristics of down syndrome

A

cognitive disability
low set ears, wide nasal bridge, protruding tongue (hypotonic), upward slant to eyes, epicanthal folds, single palmar crease, small stature
nuchal changes (neck) can be spotted with US
hypotonia in baby - joints relaxed/flaccid
those with disease have increased risk for congenital heart disease, leukemia, and respiratory issues

102
Q

Duchenne Muscular Dystrophy (DMD)

A 
x link recessive
affecting only males
apparent by age of 3
life exp ~20y
goal: maintain fct and independence (surgery, PT, prevent obesity which would make it even more diff to move, address infection quickly, med w/ steroids)
103
Q

patho of DMD

A

muscle cells deficient in protein dytrophin–> weak cell membranes–> leak creatinine kinase and take in calcium–> proteases and inflamm processes activated–> leads to muscle fiber necrosis and muscle degeneration

104
Q

clinical man of DMD

A

present w/ muscle weakness/difficulty walking
large calves- normal fiber replaced w/ fat and connective tissue
gradual loss of ability to ambulate by 8-13yo (Gower’s sign)
scoliosis (when disease has progressed)
osteoperosis…fractures
muscle weakness progresses = respiratory weakness = premature death
very complex disease mgmt…many disciplines need to be involved in care

105
Q

diagnosing DMD

A

H&P
initially shows an elevated creatinine kinase
muscle biopsy
genetic testing

106
Q

sickle cell anemia

A 
chromosome 11
comes from a point mutation (sub of single base carrier = diff amino acid coded for)
autosomal recessive (aa = affected; Aa = carrier)
homozygous inheritance (aa) = disease...affected
heterozygous inheritance (Aa) = trait...carrier
107
Q

patho of sickle cell

A
  • genetic mutation causes defective hgb molecule (Hb S)
  • when o2 is low, Hb S undergoes polymerization and causes it to change into sickled shape
    1st: sickling- occlusion of small arteries–tissue damage–pain
    2nd: anemia- shorter life span due to hemolysis; hyperbilirubinemia (jaundice) as RBC’s breaking down
108
Q

potential triggers for cells to sickle

A 
dehydration, 
infection, 
fever,
 acidosis, 
hypoxia, 
exposure to cold
109
Q

clinical man of sickle cell

A 
(typ don't present until 4-6mo, once fetal hgb is gone and infant's body is trying to make it's own)
chronic anemia
pallor
jaundice (bilirubin levels)
fatigue
delayed growth/puberty
infections (most common cause of death)
sickle cell crises: vaso-occlusive, acute sequestration, aplastic anemia
110
Q

vaso-occlusive

A

sickled cells and vasospasm block the blood flow–> thrombosis and infarction
extremely painful, lasting for days/weeks
pot locations: joint/bone pain; acute chest syndrome; dactylitis (hand and food syndrome); priapism (penis); cerebrovascular (brain)

111
Q

acute sequestration

A

usually in children 6m-4y
blood pools causing enlargement–>hypovolemic shock–> Ex surgery (splenectomy)
pot locations: spleen, liver, lungs

112
Q

asplastic

A

increased destruction or decreased production–> profound anemia
associated with viral infections and fever

113
Q

Dx of sickle cell

A

newborn screen
h&p (related to crisis-like symptoms…pain/anemia)
labs: anemia; sickled and target cells (pale w/ bulls eye)

114
Q

Tx of sickle cell

A 
stem cell transplant
edu to prevent sickling crises
vaccinations
penicillin prophylaxis (to prevent pot inf)
transfusions
splenectomy
pain mgmt, hydration, and oxygenation
115
Q

sickle cell complations

A

S strokes, swelling of hands/feet, spleen
I infections, infarctions (bl clogged in vessels)
C crisis, chest syndrome, cardiac probs
K kidney disease
L liver and lung probs
E eyes/erection

116
Q

cystic fibrosis

A

chromosome 7 (1300 diff mutations)
most common single gene disorder
autosomal recessive (aa = affected; Aa = carrier)
most often in caucasian americans
defect in membrane trans for chloride ions in epithelial cells
production of abnormally thick secretions in glandular tissues (which is what’s causing most of the probs)

117
Q

autosome

A

name for ordinary paired chromosome, not a sex chromosome

118
Q

carrier

A

person that transmits a genetic condition but suffers no symptoms of that condition

119
Q

heterozygous vs homozygous

A

dissimilar pair of genes (Aa)

same pair of genes (AA or aa)

120
Q

genotype

A

genetic makeup of an organism

121
Q

phenotype

A

appearance of an organism resulting from the interaction of the genotype and the environment

122
Q

chromosome

A

structure of DNA molecules that consists of 2 strands that wind around each other (double helix)

123
Q

gene

A

basic physical unit of inheritance that is passed from parent to offspring

124
Q

meiosis

A

cell div used in gamete formation

125
Q

mutation

A

change in DNA sequence that results from copy mistakes or exposure to radiation, chemicals, or infection

126
Q

Mendel

A

Austrian monk who worked out basic laws of inheritance

127
Q

inherited

A

trait that is genetically determined

128
Q

pedigree

A

genetic representation of a family tree

129
Q

Punnett Square

A

diagram used to predict probability outcome of a genetic cross in parents

130
Q

allele

A

diff forms of the same gene

131
Q

epigenetics

A

how genes are turned on or off by their environment

132
Q

inflamm bowel disease (IBD)

A

chronic illnesses that are more commonly onset in childhood and young adults
ie: crohns and ulcerative colitis

133
Q

ulcerative colitis

A
  • inflamm disease of the mucosa of the colon and rectum
  • continuous exacerbations and remissions
  • genetic, environmental and immunologic factors (fam hx, Jewish decent, white race)
134
Q

pathology of ulcerative colitis

A
  • inflamm at base of crypts of Lieberkuhn (due to activated neutrophils/macrophages)
  • inflammation leads to access formation
  • accesses coalesce–> ulcer formation
  • they can repair, but it’s fragile and highly vascular tissue, so it will occur repetitively
  • superficial ulceration only (vs transmural)
135
Q

clinical man of ulcerative colitis

A
  • diarrhea - bc of inability of colon to absorb water… which produces more watery stools
  • rectal bleeding (2ndary to ulcers)
  • abdominal pain
136
Q

dx and tx of ulcerative colitis

A
  • dx with biopsy (view ulcerations)
  • tx corticosteroids and immunosuppressants (bc inflamm disease); Ab if systemic toxicity (infection)
  • manage with nutrition: no milk; low fiber/fat diet; high in protein; similar to hypoallergenic diet
  • risk for colon cancer increases; colectomy if high grade dysplasia found (abnormal growth)
137
Q

Crohns disease

A
  • inflamm of the GI tract from lips to anus
  • transmural: extends thru all layers of intestinal wall
  • *cardinal features: granulomas (deep linear ulcers)
  • genetic, env and immunologic factors: genetic predisposition, Jewish decent, white race, cig smoking, living urban (higher rate) vs rural; virus/bacteria
138
Q

pathology of crohns

A
  • blockage of GI lymphoid and lymphatic structures
  • engorgement/inflamm –> granulomas (deep linear ulcers)
  • thickened by fibrous score, observe deep fistulas (secretions from intestines in places they shouldn’t be (ie stool discharge out of vagina…increases risk of UTI/inf)
  • cobblestone look to tissue on biopsy - bumpy surface
139
Q

clinical man of crohns

A
  • nutritional deficiency: incapable of adequately absorbing nutrients, AEB wt loss, malnutrition, ht/wt changes over time
  • biopsy shows “skipping lesions”
  • perianal fissures (tears in skin - pt will complain of pain when going to bathroom), fistulas and abcesses
140
Q

dx and tx of crohns

A

hx and physical: wt, nutrition, s/s
biopsy: granulomas, skipping lesions
- tx: corticosteroids, immunosuppressants
Ab if systemic toxicity
manage with nutrition: diet like ulcerative colitis
- risk for colon cancer increases; colectomy if high grade dysplasia found

141
Q

Gastroesophageal reflux disease (GERD)

def and 3 causes

A

backflow (reflux!) of gastric contents into the esophagus through the lower esophageal sphincter (LES)
3 causes:
1 issues with LES: closure strength and efficacy, ie: high fat diet, caffeine, alcohol, smoking, obesity, meds
2 increase in intrabdominal pressure, ie prego, tumor, overfed babies, constipation, crying, bearing down to poop, positioning
3 delayed gastric emptying, ie infants

142
Q

clinical man of GERD

A 
heartburn
regurgitation
chest pain
dysphagia (painful swallowing, eating)
may have no s/s- physiologic reflex (esp in infants)- see when difficulty eating/not enough wt gain
143
Q

2 complications of GERD

A
  • long term exposure of esophagus to highly acidic gastric content–> leads to strictures/narrowing
  • aspiration –> respiratory issues like asthma, cough, inflamm of larynx (laryngitis)
144
Q

tx of GERD

A

dietary/behavior changes: low fat diet; decrease smoking, all, caffeine
pharm: antacids and histamine blockers; proton pump inhibitors

145
Q

GERD in peds

A
  • reflux is normal in newborns and part of dev
  • CP, head injury, neural signaling issue (can’t close LES) all increase risk of GERD
  • highest rates in premie, and decreases during first 6-12 mos (until LES can mature)
    tx: small, frequent feedings (1-2hr); burping; positioning, meds
  • s/s: feeding refusal (pain), recurrent vom, poor wt gain, irritability, sleep disturbance (reflux is likely when lying flat), resp s/s
  • s/s older children: same as above, plus asthma, recurrent pneumonia, and chronic cough/hoarse voice (upper airway effected)
146
Q

osteomyelitis

A
  • severe infection of bone and local tissue
  • infection can reach the blood by:
    bloodstream (infection coming from somewhere else)
    adjacent soft tissue injury
    direct introduction of the organism into the bone
  • most common pathogens (directs tx): S aureus & S pneumaniae
147
Q

osteomyelitis

high risk groups and clinical man

A

high risk: surgery (contamination risk); open fractures; penetrating wound, IV drug users; kids <16yo (risky play), older adults (change in bones/increased risk for falls)

clinical man: pain, fever, muscle spasms, swelling, refusal to use affected limb (bc of pain)

148
Q

pathophysiology of osteomyelitis

A

1 bacteria enters
2 inflammation
3 pus formation…spreads inward (unaccessible to tx)
4 access forms
5 interrupted bloods supply –> necrosis
6 cavities or sinus forms when bone heals around necrotic tissue (again, inaccessible)

149
Q

osteomyelitis: dx and tx

A

dx: xray; labs (increased WBC, CRP, ESR) indicate inf/inflamm; bone scan/MRI; blood cultures (systemic) or bone aspiration (if just in the bone)
tx: 4-6w IV Ab’s or IV then switch to PO (oral Ab’s aren’t strong enough to reach inaccessible areas, so must have IV component); debridement if needed/not clearing up; removal of prosthesis or other materials (if that’s what’s causing it), ie new hip not jiving in body

150
Q

fractures

A

break in continuity of a bone, epiphyseal plate, or cartilaginous joint surface
generated by trauma
risk groups: young males 15-24 and older adults

151
Q

differences in peds bones

A

1 less brittle, higher collagen to bone ratio (+)
2 stronger periosteum helps bones heal faster (+)
3 presence of epiphyseal plate (where bone growth occurs); if break occurs here, poss of altering/stunting growth (-)

152
Q

transverse fracture

A

break occurs at right angles to the long axis of the bone

153
Q

serial fracture

A

twisted or circular break that affects the length; s shaped; *suspicion for child abuse

154
Q

longitudinal fracture

A

fracture along the length of the bone

155
Q

oblique fracture

A

45 edge angle diagonal or slanting that occurs bw horizontal and perpendicular plates of the bone

156
Q

comminuted fracture

A

splintered into pieces

157
Q

impacted fracture

A

telescopes or drives one fragment into the other (into itself); may be referred to as compression or buckle fracture

158
Q

greenstick fracture

A

break through the periosteum on one side while only bowing or buckling on the other side
(see pics in vocab doc)

159
Q

stress fracture

A

fracture on the cortical surface- can become complete

160
Q

avulsion fracture

A

small fragment of bone fragments

161
Q

complete v incomplete fracture

A

break through entire bone vs partial break

162
Q

open wound vs closed wound fracture

A

break in the skin near the fracture (also called compound fracture) vs no open wound

163
Q

healing of cortical bone

A

(triggered by inflammation - 1 and 2 are triggers for things to come to the site and start the healing process)
1 bleeding
2 hematoma forms
3 osteoblasts and calcium come a runnin
4 callus forms…new bone built/old bone destroyed
5 callus reabsorbs

164
Q

compartment syndrome

A

a potential comp of fractures;
accumulation of pressure;
surgical Ex;
check for 5 P’s: pain, paralysis, parenthesis (decreased sensation), pallor (interrupted bl supply), pulses

165
Q

complications of fractures

A 
nonunion/malunion
osteonecrosis
osteomyelitis
fat emboli syndrome
DVT and/or pulmonary embolism
neuromuscular injury
166
Q

function of the ductus arteriosus

A

pathway of blood from the pulmonary artery to the aorta (fetal circulation, before birth)

167
Q

fct of the foramen ovale

A

pathway of bl from the R atrium to L atrium and out to the body
(fetal circulation, before birth)

168
Q

key things affecting CHD

pressure gradient, oxygenation, workload

A

pressure gradient: fl (blood) is lazy! will move from high to low pressure; @ birth the pressure is greater on the systemic side (vs pulmonic side)- this means pressure is greater on the L side of the heart

oxygenation: oxygenated bl is on the L side, headed out to the body; unoxygenated blood on the R side
workload: an increased workload = hypertrophy of the heart; an upstream workload comes before the defect, and is what’s causing the defect; a downstream workload comes after the defect

169
Q

Patent Ductus Arteriosus (PDA)

defect and patho

A
  • defect: ductus arteriosus doesn’t close after birth (meant to close 24-48h post birth due to oxygenation changes in fetus and hormones)
  • pressure: bl goes into pulmonary artery vs aorta (less pressure)
  • oxygenation: acyanotic; no oxygenation issue; bl is circulating back into the lungs/picking up more O2
  • workload: can cause pulmonary hptn –> R sided heart failure- more work required from R ventricle to push blood through the pulmonary artery; this is a workload issue
170
Q

PDA

clinical man and eval/tx

A

clinical man: heart failure; murmur; widened pulse pressure; bounding pulses; cardiac enlargement/hypertrophy
eval/tx: echocardiogram to observe bl flow/structures; *admin Indomethacin to close the ductus arteriosus; if med not successful, cardiac cath or surg

171
Q

Atrial Septal Defect (ASD)

defect and patho

A

an opening in the septum bw the atria, usually where the foramen ovale was (is)

  • pressure: bl goes from L side of the heart to the R atrium
  • oxy: acyanotic/no issue; bl is just moving to the other side
  • workload: R sided hypertrophy/heart failure- working harder to pump extra blood
172
Q

ASD

clinical man and eval/tx

A

cm:
size of defect guides interventions (if small enough may just be left alone; big requires surgery)
fatigue/dyspnea on exertion (crying/eating)
recurrent respiratory inf
murmur
HF in young adulthood
eval/tx: Echo; spontaneous closure if poss; manage HF; cardiac cath/surg

173
Q

Ventricular Septal Defect (VSD)

defect and patho

A

an opening in the septum bw the R and L ventricles *most common heart defect

pressure: blood flows L to R
oxy: acyanotic, no issue
workload: R sided HF/hypertrophy

174
Q

VSD

clinical man and eval/tx

A

cm: size of defect guides; murmur; HF
eval/tx: may close spontaneously; manage HF; cardiac cath/surg
pharm: Digoxin (output); Diuretics (fl status); ACE inhibitors

175
Q

Coarctation of the heart

A

a narrowing of the aorta, commonly around the ductus arteriosus

pressure: higher behind the defect; lower after defect
oxy: acyanotic, no issue; decreased amt of bl getting out, but bl that is still circulating is oxygenated
workload: increased on L side–> L sided ventricular hypertrophy–> pulmonary manifestations (edema) due to the extra fluid vol

176
Q

Coarctation of Aorta

clinical man and eval/tx

A

cm: murmur
poor lower extremity peripheral perfusion
pulse and BP diffs in upper and lower extremities (must check all pulses when assessing! MD order: “BP on all 4 extremities”
left sided HF
eval/tx: echo; improve CO with diuretics and digoxin; *admin Prostaglandin E to keep ductus arteriosus open (so bl can choose to go path of least resistance, and therefore decrease the workload of the heart); cardiac cath/surg

177
Q

Tetralogy of Fallot

A

(tetra=4…4 defects)
1 VSD
2 overriding aorta
3 pulmonary stenosis
4 R ventricular hypertrophy
pressure: like a washing machine, everything is all over the place
oxy: cyanosis; unoxygenated bl in aorta being transported to the body
workload: R sided HF; primarily bc of stenosis…working hard to get past

178
Q

Tetralogy of fallout

clinical man and eval/tx

A

cm: severity related to pulmonic stenosis
becomes worse after DA closes (24-48h…after baby has gone home from hospital!)
cyanosis/fatigue; hypercyanotic episodes “Tet spells”- pressure changes when baby eats/cries/poops and there’s even more unoxygenated bl traveling out to body- blue baby
murmur and thrill
boot shaped heart on X-ray
eval/tx: echo, Prostaglandin E to keep PDA; mgmt of tet spells; series of surgery

179
Q

Transposition of the Great Arteries

A

transposition = mixed..in wrong place; defect involves switched aorta and pulmonary artery - unconnected circles
happening separately and simultaneously:
RV–>aorta–>unox bl–>body
LV–>pulm artery–>oxyg bl–>lungs

180
Q

Transposition of the Great Arteries

A

cm (a very quick progression): cyanosis at birth, hypoxemia with O2, progressive desaturation and acidosis, HF
eval/tx: Prostaglandin E to keep PDA and get oxyg bl out to body; cardiac cath/surg

181
Q

heart failure

A

inability of the heart to maintain sufficient cardiac output to meet metabolic demands of tissues and organs
CO = stroke volume x heart rate
treat HF to increase CO

182
Q

right sided heart failure

A

ineffective R ventricular function
bl backs up R atrium and into peripheral circulation
most often caused by L sided HF
-cm: (all affecting peripheral circulation)
jugular vein distension
hepato-splenomegaly
weight gain (edema)

183
Q

L sided HF

A

ineffective L ventricular fct
CO decreases– bl backs up into L atrium, then lungs
-cm:
(pulmonary s/s) dypsnpea, cough/crackles, hemoptysis
tacky; s3/s4
cool, pale skin

184
Q

Biventricular HF

A

R & L sides not working; symptoms of both R and L HF

185
Q

Systolic HF

A

ventricles don’t pump out enough blood into systemic circulation
reduced myocardial contractility = low EF
(ejection fraction: % bl ejected out during systole)
norm EF <40-50%
(only measuring systole)

186
Q

diastolic HF

A

ventricles don’t fill up properly/not enough bl to pump out;

will see a change in stroke vol

187
Q

congestive HF

A

dx: history/physical; chest xray; check electrical activity with EKG/ECG; echo for structure/function
tx: manipulate preload, afterload and contractility
- improve CO: digitalis and digoxin
- minimize congestive s/s: diuretics
- minimize cardiac workload: pacemaker, ACE inhibitors, ARV’s

188
Q

CHF in peds

A

-most common comp of CHD and acquired cardiac disease
-most often result of decreased L ventricular systolic fct:
L atrial and pulmonary venous hptn
pulmonary venous congestion
tx: underlying cardiac defect guides; manage fl balance - increased caloric content of feeds/diuretics; increased CO with meds

189
Q

serotonin (5-HT)

fct/effect

A 
feeling of well being
*mood
sleep
appetite
sexual desire/fct
memory

when you’re lacking you’ll see c/m of depression

190
Q

dopamine

A

cognitive fct; “sluggish” when lacking
motivation
interest/attn
pleasure/euphoria

191
Q

Norepinephrine

A

stress hormone
attention
fight/flight

when you’re lacking you’ll see anxiety disorder; fi/fl mechanism is dysregulated

192
Q

depression

A

a clinically and etiologically heterogeneous disorder- everyone is clinically different/diff etiology

leading cause of global disability; higher in girls and older children; *directly related to suicide

r/f: genetic; relational/interpersonal stressors; chronic illness; poor coping mech; SDOH like school failure/lower edu, abuse/neglect and ses;

193
Q

monoamine deficiency theory

A

monoamines = norepinephrine, serotonin and dopamine

  • not a usual amt avail in the synaptic space; decreased baseline/amt to begin with
  • overactive reuptake (SSRI)
  • enzymes are eating up the nerotransm. before they make it to the postsynaptic neuron
  • not enough transport molecules to accept the neurotransmitter
194
Q

major depressive disorder

A
  • 5+ s/s have been present during the same 2-week period and represent a change from previous functioning
  • s/s cause clinically sig distress/impairment in social, occupational or other imp areas of functioning
  • episode is not attributable to the physiologic effects of a substance or other med condition
  • not better explained by schizo/other psychotic disorder
  • there has never been a manic episode
195
Q

anxiety, fears and worries

A 
anxiety = NECESSARY physiologic response; keeps us safe in dangerous situation
fears = NORMAL emotional response to threat; part of dev
worries = cognitive manifestation of fear and anxiety

labeled an anxiety disorder when the fear, worries or anxiety are outside of normal dev response- are extreme and cause sig distress/impair fct (ie social/school situation)

–>persistent, excessive and unrealistic worry

196
Q

anxiety disorder in peds

A

most comm psychiatric illness
can start in preschool but doesn’t impair until school age
girls 2x more likely
r/f: genetic predisposition; temperament, modeling, physiologic factors, exposure to psychosocial/env stressors
high rate of comorbidity with depression

197
Q

Fight or Flight with anxiety disorder

A 
fi/fl reg through the limbic system: 
sensory input (thalamus)
contect/memory (hippocampus)
emotional reg (amygdala)
prefrontal cortex helps modulate

in anxiety disorder there is a dysregulation - it’s activated in situations that are not actually a threat; involvement of neurotransmitters: norepinephrine, GABA, serotonin, dopamine
release of stress hormones and adrenaline without reg

198
Q

generalized anxiety disorder

A

excessive anxiety/worry occurring more days than not for at least 6mos
physical s/s (only one required in peds) such as restlessness, diff concentrating, irritability, muscle tension, sleep disturbance
causes clinically sig distress/impairment
not attributable to physiological effects of substance/med
not better explained by another medical disorder

*if not treated approp, major depressive disorder/ substance abuse l ikely down the road
long term physiologic effects of stress cause GI, CV and other probs later in life

398 pharm/patho (2 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions