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Principles of Foundational Medicine > Clinical Applications Week 1 > Flashcards

Clinical Applications Week 1 Flashcards

1
Q

Listeriosis

A

serious food poisoning

listeria monocytogenes

mechanism:

ActA → hijacks Arp2 /3 → actin rapidly propels bacteria → protrudes to adjacent cell to infect

Symptoms:

  • fever
  • muscle aches
  • nausea
  • diarrhea
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2
Q

Alzheimer Disease

A

Tau: MAP, multiple microtubule binding domains to form bundles

TAU → phosphorylated and dissociates from microtubule in neuron → aggregates to form neurofibrillary tangles → neuronal degeneration

TAU → phosphorylated and dissociates from microtubules → promotes microtubule disassembly

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3
Q

Retrograde transport of toxins

A

use DYNEIN to transport toxins to neuronal body

  • clostridium tetani
  • herpes simplex
  • poliovirus
  • rabies virus
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4
Q

Asthenozoospermia

A

causes infertility

bent sperm flagella → poor motility

9 + 2 arrangement is disrupted in microtubules

  • mutations in inner and outer dynein protein
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5
Q

Primary Ciliary Dyskinesia

A

Symptoms:

  • chronic respiratory tract infections
  • infertility/ectopic pregnancy
  • hearing loss
  • abnormally positioned organs (Kartagener syndrome- mirror image reversal of organs)
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6
Q

Kartagener Syndrome

A

mirror image reversal of organs

caused by primary ciliary dyskinesia

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7
Q

Epidermolysis Bullosa Simplex

A
  • mutations in keratin
  • cell-to-cell contacts are weakened

epithelial tissue → blistering and trauma from mechanical forces

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8
Q

Hutchinson Gilford Progeria Syndrome

A

mutation in LMNA

causes premature aging in infants

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9
Q

Emery-Dreifuss Muscular Dystrophy

A

mutation in lamin binding protein or LMNA

Symptoms:

  • normal intelligence
  • atrophy of muscles
  • stiff joints
  • absent tendon reflexes
  • toe walking (shortened achilles)
  • abnormal cardiac rhythms
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10
Q

Dunnigan Lidodystrophy

A

mutation in lamin binding protein or LMNA

  • variable loss of fat from extremities/trunk
  • excess subq fat in chin/supraclavicular region
  • begins at puberty
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11
Q

Multiple Sclerosis

A

chronic autoimmune demyelinating of the CNS

  • peak age 20-40
  • Myelin sheath prevents current leakage and improves signal propagation; important to maintain speed

Symptoms:

  • sensory loss/paresthesia
  • optic neuritis (inflammation of optic nerve causing eye pain/blurred vision)
  • weakness, diploplia, ataxia
  • Lhermitte sign (electrical sensation down spine when neck is flexed)
  • Bladder disfunction
  • Cognitive disfunction
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12
Q

Guillain-Barre Syndrome

A

Autoimmune disorder

  • Molecular mimicry related demyelination in PNS

Symptoms:

  • Proximal muscle weakness (rising from chair, combing hair, stairs)
  • Rapidly evolving ascending paralysis
  • Afebrile (not feverish)
  • Antecedent infection (enteritis or upper respiratory/viral infection)
  • Absence of reflexes
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13
Q

illness script

A

epidemiology- age/risk factors

pathophysiology- why

key clinical features- time course, signs, symptoms

diagnostic data

treatment

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14
Q

homocystinuria cause

A

cystathionine beta-synthase deficiency

  • autosomal recessive
    • can also be acquired- diet lacking B12, B6, foliate
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15
Q

homocystinuria epidemiology

A

both males and females, but occurs more often in males

identified on state newborn screening labs

1/100,000-300,000

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16
Q

Homocystinuria progression

A
  • unaffected at birth with disease progression if untreated
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17
Q

homocystinuria key clinical features- musculoskeletal

A
  • marfanoid body habitus
    • not necessarily tall
  • hypotonia
    • baby not meeting milestones
  • osteoporosis
    • especially increased risk after menopause
  • pectus carinatum/excavatum
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18
Q

homocystinuria key clinical features- CNS

A
  • developmental delay
  • intellectual disability
  • psychiatric/behavioral disorders
  • seizures
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19
Q

homocystinuria key clinical features- opthalmologic

A
  • INFERIOR lens dislocation
  • myopia
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20
Q

homocystinuria key clinical features- cardiovascular

A
  • thromboembolic disease
    • prone to DVT and PE
  • extensive atheromas at young age
  • cerebrovascular disease
  • myocardial infarction
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21
Q

homocystinuria key clinical features- dermatologic

A
  • fair complexion with sparse blonde hair
  • hyperpigmentation/vitiligo if POC
  • livedo reticularis- lacy skin pattern, not raised
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22
Q

Homocystinuria basic science

A

autosomal recessive

cystathionine beta synthase mutation → cystathionine beta synthase enzyme deficiency → increased levels of homocysteine

  • homocysteine binds to endothelial cells
    • proinflammatory cytokines
    • inflammation
    • ischemia
    • blood cloths
  • homocysteine replaces cysteine
    • in eye- zonular fibrosis → downward dislocation
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23
Q

Homocystinuria diagnosis

A

increased levels of homocysteine in urine and serum

increased levels of methionine in serum

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24
Q

homocystinuria differential dx

A

marfan syndrome

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25
Q

homocystinuria treatment

A
  • low protein (methionine) diet
  • B6, B12, foliate, betaine supplementation
  • IV cysteine supplementation to infants
  • genetic counselling
  • multidisciplinary team approach
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26
Q

Marfan’s Syndrome Epidemiology

A

both males and females

phenotype becomes more apparent with age

2-3/10,000

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27
Q

Marfan’s syndrome key clinical features- cutaneous

A

thin, highly distensible skin

linear striae

28
Q

Marfan’s syndrome key clinical features- ocular

A

myopia

UPWARD AND MEDIAL lens dislocation

29
Q

Marfan’s syndrome key clinical features- cardiovascular

A
  • Mitral valve prolapse
    • may hear a click between systole and diastole
  • aortic root dilation
30
Q

Marfan’s syndrome key clinical features- musculoskeletal

A
  • long, narrow extremities
  • tall stature
  • longer wingspan than height
  • chest wall asymmetries
  • acachnodactyly (long, slender fingers)
    • thumb sign
    • wrist sign
  • joint hyper-extensibility
31
Q

Marfan’s syndrome key clinical features- respiratory

A

blebs, bullae- predisposed to spontaneous pneumothroax

32
Q

Marfan’s syndrome basic science

A

autosomal dominant

FBN1 mutation resulting in DEFECTIVE FIBRILIN-1

fibrillin loss → increased TBFbeta → decreased vascular muscle, extracellular matrix → compromised strength, elasticity

33
Q

Marfan’s Syndrome diagnosis

A

Skeletal abnormalities

personal/family history of aortic aneurism

Differential dx: homocystinuria, ehlers-danlos

34
Q

Marfan’s syndrome diagnostic tests

A

echocardiogram, x-ray, MRI

35
Q

Marfan’s syndrome treatment

A

genetic testing

multidisciplinary team approach

monitor aorta/valvular abnormalities

counsel to limit participation in contact sports/competitive athletics/heavy lifting

36
Q

Ehlers-Danlos Syndrome epidemiology

A

both males and females

broad range of presentations

1/5-20,000

37
Q

Ehlers-Danlos key clinical features

A

6 subtypes

  • type 3
    • hyper-mobility
    • joint instability
  • classical (type 1 and 2)
    • joint instability and hyper-extensible skin
  • vascular (type 4)
    • easy bruising
    • muscles and organs prone to rupture
  • mitral valve prolapse
  • flat feet, kyphosis, scoliosis
  • tendon sprains, joint dislocations/subluxations
  • impaired would healing
38
Q

EDS Basic Science

A
  • inheritance: varies by subtype
  • Classical (types 1 and 2)
    • autosomal dominant (50% de novo)
    • COL5A1/COL5A2 mutation → type V collagen mutation
      • type V collagen interacts with type I collagen
39
Q

EDS diagosis

A

clinical exam

beighton score

genetic counseling (not available for type 3)

differential dx:

  • marfan’s syndrome
  • OI
  • Larsen syndrome
    • include craniofacial abnormalities
40
Q

EDS treatment

A

treat/manage pain with NSAIDs

physical therapy

orthotics/casting

education/counseling

41
Q

Osteogenesis imperfecta epidemiology

A

both males and females

symptoms apparent from childhood

range from fatal neonatally to mild

1/ 20,000

42
Q

OI key clinical features

A
  • multiple fractures +/- bone deformities
  • short stature
  • blue sclera
  • dental imperfections
  • hearing loss

Type I

  • mild bone fragility
  • minimal fractures before walking
  • normal stature
  • higher risk of hearing loss/osteoporosis as adults

Type III-IX

  • Type III is most severe that is compatible with life
  • moderate to severe rate of fracture
  • short stature
  • hearing loss/osteoporosis later in life

Type II

  • LETHAL
  • fractures in utero
43
Q

OI basic science

A

autosomal dominant

COL1A1/COL1A2 mutation

→ triple helix defect → decreased synthesis of Type I collagen

44
Q

OI diagnosis

A
  • clinical signs
  • family history
  • x-ray skeletal survey
  • dermal fibroblast culture
    • may be less of normal collagen or abundant abnormal collagen
  • differential dx
    • CHILD ABUSE
    • ricketts
      • osteomalacia
45
Q

OI treatment

A

Biphosphate treatment

surgical repair

physical therapy

46
Q

Alpha-1 Antitrypsin deficiency epidemiology

A

both males and females

child with cholestasis and poor growth

young adult with emphysema +/- cirrhosis

47
Q

AAT clinical features

A
  • infant/child with cholestasis/poo growth
  • younger adult patient with emphysema in a non-smoker
    • more pronounced at base of lungs
    • earlier/more severe if a smoker
  • adult with cirrhosis
    • portal hypertension/esophageal varices
    • jaundice
    • hepatocellular carcinoma
    • decreased synthesis of coagulation factors
  • panniculitis
    • inflammation of subq fat
48
Q

AAT basic science

A

autosomal dominant

SERPINA1 mutation → decreased or absent AAT → increased activity of proteases → increased breakdown of elastic → decreased elasticity of alveoli → COPD

misfolded ZAAT in liver → polymerization of ZAAT → iclusion bodies in hepatocyte ER → cirrhosis

49
Q

AAT diagnosis

A

serum AAT level

gene sequency

liver biopsy

differential dx

  • COPD
  • cystic fibrosis
  • interstitial pneumonia
50
Q

AAT treatment

A

Monitoring:

  • pulmonary functioning testing
  • routine liver functioning testing
  • liver ultrasound

therapy:

  • avoid active/passive smoke exposure
  • follow COPD guidelines for therapy
  • pulmonary rehab
  • nutritional support
  • IV A1AT
  • May require liver/lung transplant
51
Q

Saxitonin poisoning

A
  • Saxitonin: produced by algae and found in shellfish
  • voltage-gated sodium channel blocker
    • blocks action potentials in neurons/muscle cells

Symptoms:

  • inactivation of sympathetic nerves: hypotension
  • paralysis of diaphragm → death
  • dyspnea
  • headache
  • nausea/vomiting/diarrhea
  • generalized weakness
  • hyporeflexia
  • tingling/numbness
    • around mouth/neck/face
52
Q

Tetrodotoxin Poisoning

A
  • Voltage gated sodium channel blocker
    • affects nerve, skeletal, cardiac muscle
    • comes from newts, shellfish, PUFFERFISH
  • mild intoxication: euphoria, paresthesia around lips

Symptoms:

  • nausea
  • vomiting
  • diffuse extremity weakness
  • loss of reflexes
  • bilateral ptosis
  • bifacial weakness
  • death from respiratory failure/cardiac arrhythmia
53
Q

Hypokalemic Periodic Paralysis

A
  • painless total body muscle weakness
    • usually due to potassium shift intracellularly
  • autosomal dominant
  • mutation in L-type VGCC in muscle
    • leads to activation of Na+-K+-ATPase
      • potassium pumped into cell → less in serum
      • membrane HYPERPOLARIZES (becomes more negative)
        • muscle cells become less reactive to stimuli
  • Clinical presentation:
    • onset: adolescence
    • transient generalized weakness sin arms/legs after exercise or carbohydrate intake
  • treatment: PO potassium
54
Q

Symptomatic hyperkalemia

A

older age due to chronic kidney disease, DM, CFD, medications

55
Q

Hyperkalemic Periodic Paralysis

A
  • Mutation in SCN4A (voltage gated sodium channel at neuromuscular junction)
  • resting membrane potential gets MORE POSITIVE (depolarizes)
    • when it gets above threshold potential, a muscle that has depolarized and contracted won’t be able to repolarize to allow another contraction
  • Clinical presentation:
    • muscle weakness
    • flaccid paralysis
    • dyspnea
    • nausea/vomiting
    • paresthesia
    • peaked T-waves on ECG
    • cardiac arrest
  • Treatment:
    • IV calcium gluconate
      • calcium raises threshold and reduces firing
    • albuterol
    • insulin
      • albuterol and insulin activate Na-K-ATPase and put potassium back into cells
    • Glucose/Carbohydrate PO
56
Q

dermatophagoides pteronyssinus

A

common dust mite

  • inhaled fecal pellets contain serine and cysteine peptidases
    • cleave occludins and ZO-1
      • compromise TIGHT JUNCTIONS of respiratory epithelium
    • Clinical presentation:
      • wheezing
      • SOB/chest tightness
      • non productive cough
57
Q

Clostridium perfringens

A

pathological agent found in meats

disrupts TIGHT JUNCTIONS

  • enterotoxin binds claudins to prevent incorporation into tight junction in the epithelia of the intestines
  • causes diarrhea
58
Q

hypomagnesemia renal disease

A

progressive renal disease with characteristic magnesium wasting, progressive renal failure, hypercalciuria and nephrocalcinosis associated with severe ocular abnormalities

mutation in CLDN19

59
Q

Ovarian cancer

A

beta catenin: transcription factor to activate genes promoting cell growth and proliferation

  • migrates to the nucleus → mutations can promote its role as a transcription factor
  • clinical presentation:
    • bloating
    • constipation
    • increased urination
    • early satiety
    • family history
      • often misdiagnosed as IBS
60
Q

pemphigus vulgaris/foliaceus

A

autoimmune disease affecting DESMOSOMES

intraepidermal blistering due to acanthyolysis (adjacent epithelial cells pull apart)

  • pemphigus vulgaris
    • antibodies against desmoglein 3
      • MUCOUS MEMBRANES AND EPIDERMIS
  • pemphigus foliaceus
    • antibodies against desmoglein 1
      • expressed in desmosomes of SCALP AND FACE
61
Q

bullous pemphigoid

A

subepidermal blistering

antibodies agaisnt: dystonin or type XVII colalgen

  • blisters usually do not rupture
    • unblistered skin peels and wrinkles when pressure is applied
62
Q

dystrophic epidermolysis bullosa

A

mutation in type VII collagen

basement membrane separates from underlying tissue

  • lifting off as a sheet is less severe than cells themselves separating
63
Q

Cholera toxin

A

vibrio cholera

Mechanism: inhibits GalphaS GTP-ase activity (causing it to stay on, because hydrolysis of GTP turns off) → increased levels of cAMP

GalphaS stimulates Cl- and water secretion

Symptoms: severe diarrhea

64
Q

Pertussis toxin

A

mechanism: inactivates GalphaI such that it cannot inhibit adenylyl cyclase → activity of cAMP increases

→whooping cough

65
Q

Transfusion-Related Acute Lung Injury (TRALI)

A

characterized by sudden, acute respiratory distress during or within six hours or a blood component/product being administered

  • dyspnea and tachypnea, SpO2<90%
  • bilateral pulmonary edema unassociated with heart failure
    • recipient neutrophils are activated by donor-derived antibodies targeting human leukocyte antigens or human neutrophil antigens
66
Q

Organophosphate poisoning

A

caused by acetylcholinesterase inhibition

acetylcholine increases at cholinergic neuroeffector junction

causes: drugs, insecticides

Symptoms: SLUDGEM

  • salivation
  • lacrimation
  • urination
  • defecation
  • gastrointestinal upset
  • emesis (vomiting)
  • miosis (unable to focus/fixed close vision; ciliary muscles contracted)
  • bradycardia/wheezing (smooth muscle contracted in lungs)
67
Q

Fentanyl toxicity

A

pinpoint pupils

Respiratory distress

Principles of Foundational Medicine (10 decks)

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