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Pathophys 2 > Brain > Flashcards

Brain Flashcards

1
Q

Define muscular dystrophy

A

An inherited group of progressive myopathic disorders resulting from defects in a number of genes required for normal muscle function.

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2
Q

3 categories of genes responsible for muscular dystrophy

A
  • X-linked inheritance:
  • Autosomal recessive inheritance:
  • Autosomal dominant inheritance:
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3
Q

2 Muscular dystrophies with X-linked inheritance

A
  • Duchenne (most common) & Becker muscular dystrophies

* Emery-Dreifuss muscular dystrophy (EMD Gene)

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4
Q

4 muscular dystrophies with Autosomal recessive inheritance

A
  • Limb-girdle muscular dystrophies 2A, 2B, 2C etc
  • Congenital muscular dystrophies
  • Emery-Dreifuss muscular dystrophy (LMNA gene)
  • Distal dystrophies
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5
Q

6 muscular dystrophies with autosomal dominant inheritance

A
  • Facioscapulohumeral muscular dystrophy
  • Limb-girdle musculae dystrophies 1A, 1B, 1C etc
  • Myotonic dystrophy Type 1 (DM 1)
  • Myotonic dystrophy Type 2 (DM2)
  • Distal Dystrophies
  • Emery-Drefuss muscular dystrophy (LMNA gene)
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6
Q

Most common form of muscular dystrophy

A

Duchenne Muscular Dystrophy

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7
Q

Duchenne Muscular Dystrophy: Cause

A

Caused by a defective gene located on the X Chromosome that is responsible for the production of dystrophin

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8
Q

Dystrophin: Location

A

Located on the cytoplasmic face of the plasma membrane of muscle fibers

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9
Q

Dystrophin: function

A
  • Functions as a component of a large, tightly associated glycoprotein complex
  • Normally provides mechanical reinforcement of the sarcolemma and stabilizes the glycoprotein complex, thereby shielding it from degradation
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10
Q

What happens when Dystrophin is absent?

A

• In its absence, the glycoprotein complex is digested by proteases → This loss may initiate the degeneration of muscle fibers → Muscle weakness

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11
Q

Clinical course of Duchenne Muscular Dystrophy

A
  • Usually asymptomatic at birth
  • Signs of muscle weakness become evident by 2-3 y/o
  • Postural muscles of the hip and shoulders are usually first affected
  • Pseudohypertrophy (seeming enlargement due to fat tissue) of the calf muscles eventually develops
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12
Q

Duchenne Muscular Dystrophy: Clinical manifestations (7)

A
  • Imbalances between agonist and antagonist muscles lead to abnormal postures and development of contractures / joint immobility
  • Scoliosis is common – lateral spinal deformity
  • Wheelchair usually needed by 7-12 years
  • Smooth muscle of bladder and bowel preserved
  • Respiratory muscles often involved: Results in weak and ineffective cough, frequent resp infections, and decreased respiratory reserve.
  • Cardiomyopathy is common
  • Mortality: Early adulthoo due to resp or cardiac complications
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13
Q

Postural changes in muscular dystrophy (9)

A
  • Shoulders and arms are held back awkwardly when walking
  • Sway back
  • Belly sticks out due to weak belly muscles
  • Weak butt muscles (hip straighteners)
  • Knees may bend back to take weight
  • Thin, wek legs (especially front part)
  • Thick lower leg muscles (‘muscle’ is mostly comprised of fat – not strong)
  • Tight heel cord (contractures), child may walk on toes
  • Weak muscles in front of leg cause “foot drop” and tip toe contractures
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14
Q

Three types of head injury

A
  • Skull factures
  • Parenchymal injury (TBI)
  • Traumatic vascular injury
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15
Q

Two categories of Primary Brain Injury and examples

A

FOCAL INJURY Contusions, lacerations

DIFFUSE BRAIN INJURY: Concussions

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16
Q

What causes diffuse injury?

A

Shearing

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17
Q

What is often the cause of death with Shaken Baby Syndrome?

A

Intercerebral Hemmorhage

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18
Q

Define Consciousness: Grades 1-4

A
  • Grade I and II: Some disturbance in attention or memory but no loss of consciousness
  • Grade III: May involve brief loss of consciousness (less than 5 minutes)
  • Grade IV: Classic Cerebral Concussion: An immediate loss in consciousness that lasts more than 5 minutes but less than 6 hours.
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19
Q

Loss of consciousness involving temporary disruption of ______

A

Reticular Activating System

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20
Q

Function of Resticular Activating System

A

Convey all the sensory input coming from the body to be relayed through the cerebral cortex

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21
Q

2 complications of secondary injury

A
  • Seizures

- ICP

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22
Q

Four categories of hematomas

A
  • Epidural hematoma (btwn skull and dura mater)
  • Subdural hematoma
  • Subarachnoid
    Intraparenchymal
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23
Q

Who is most vulnerable to a Subdural Hematoma?

A
  • Young children / babies

- Elderly individuals with any degree of brain atrophy

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24
Q

Types of CVAs: (4)

A
  • Thrombotic Stroke
  • Embolic stroke
  • Hemorrhagic stroke
  • Lacunar stroke
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25
Q

What two types of stroke cause focal ischemia?

Which one causes global cerebral ischemia?

A

Focal:

  • Thrombotic Stroke
  • Embolic Stroke

Global:
- Hemorrhagic stroke

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26
Q

Define thrombotic stroke

A

The development of a clot within an artery of the brain

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27
Q

Risk factors for thrombotic stroke

A

HTN, Diabetes, smoking

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28
Q

Define Embolic stroke:

A

Embolus travels to artery (usually from left heart) and causes occlusion

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29
Q

Risk factors for embolic stroke

A

Heart valve abnormalities

Atrial fibrilation

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30
Q

Common cause of hemorrhagic stroke

A
  • Ruptured cerebral aneurysm
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31
Q

Risk factors for hemorrhagic stroke

A
  • HTN

- Anticoagulants

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32
Q

Define lacunar stroke

A

o Least common

o Tiny thrombotic strokes that happen in the brain stem – go unnoticed until they become severe

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33
Q

Symptoms of Global Cerebral Ischemia (2)

A

Non-specific, general symptoms
o Loss of consciousness
o Overall change in mental status

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34
Q

Symptoms of Focal Cerebral Ischemia (4)

A 
Discrete type symptoms related to where stroke is located
o	Headache
o	Hemiparalysis
o	Aphasia
o	Visual deficits
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35
Q

4 key features of a stroke

A

(1) Sudden onset
(2) Focal involvement of the CNS
(3) Lack of rapid resolution
(4) Vascular Cause

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36
Q

3 classifications of a stroke based on duration

A

o “Transient Ischemic Attack” if symptoms last less than 1-2 hours

o “Stroke-in-evolution” (Progressing stroke) cause deficits that continue to worsen as patient is seen

o “Completed stroke” Defined by the presence of persistent deficits (common in embolic stroke)

37
Q

What is the difference between meningitis and meningeoencephalitis

A

o Meningitis Def: Infection and inflammation of the meninges

o Meningeoencephalitis Def: Infection and inflammation of the meninges and brain

38
Q

3 classifications of Meningitis

A

o Acute Pyogenic: Bacterial Meningitis

o Aseptic: No evidence of pus on spinal tap

o Chronic: Can be viral or bacterial

39
Q

3 groupings of micro-organisms in Acute Pyogenic Bacterial Meningitis

A

Microorganisms vary with age:
• Infant: Escheria colia and Group B Strep
• Adolescents and young adults: Neisseria meningitides
• Elderly: Streptococcus pneumoniae and Listeria monocytogenes

40
Q

What is most commonly the cause of aseptic meningitis

A

• Enterovirus is the cause in 70% of cases

41
Q

What is most commonly the cause of Chronic Meningitis

A

• Usually tuberculosis, syphilis, Lyme’s disease → Diseases that hide in body tissue

42
Q

Two signs that indicate meningitis

A

o Kernig’s Sign: Resistance to passive extension of the flexed leg in patient lying supine

o Brudzinski’s sign: Involuntary bending of knees when neck is bent forward (when lying supine)

43
Q

What is Kernig’s Sign?

A

Sign of meningitis: Resistance to passive extension of the flexed leg in patient lying supine

44
Q

What is Brudzinski’s Sign?

A

Sign of meningitis: Involuntary bending of knees when neck is bent forward (when lying supine)

45
Q

Ominous signs of impending herniation (death imminent- meningitis)

A
  • Coma
  • Papiledema
  • Cushing’s triad (bradycardia, respiratory depression, hypertension)
46
Q

Clinical Manifestations of Meningitis (7)

A

o Rapid onset of: Fever, headache, lethargy, confusion
o Neck stiffness or nuchal rigidity
o Change in mental status
o 10-30% have cranial nerve dysfunction, focal neurologic signs, or seizures.
o N/V
o Photophobia
o Petechial or purpuric rash, predominantly on extremities, in >half of patients with meningococcemia

47
Q

Pathophysiology of increased ICP in meningitis

A
  • Metabolic changes: Increased ICP is opposing perfusion pressure, leaving brain vulnerable to ischemia and hypoxia, thus causing more injury and more pressure.
  • Body compensates by increasing blood pressure
48
Q

Three clinical manifestations of increased ICP in meningitis

A
  • Body compensates by increasing blood pressure
  • Projectile vomiting
  • Headache
49
Q

Three treatments for increased ICP

A

o Shunts
o Mannitol: Helps pull fluid out of the cerebral space, uses osmotic pressure
o Hypertonic Saline: Uses osmotic pressure

50
Q

Two components of consciousness. What does each require?

A

o 1) Arousal and wakefulness (requires concurrent functioning of RAS and cerebral cortex)
o 2) Content and cognition (Requires a functioning cerebral cortex)

51
Q

Characteristics of CONFUSION

A

Impaired ability to think clearly and to perceive, respond to and remember stimuli.

52
Q

Characteristics of DELIRIUM

A

Motor restlessness, transient hallucinations, disorientation, sometimes delusions

53
Q

Characteristics of OBTUNDATION

A

Decreased alertness with associated psychomotor retardation

54
Q

Characteristics of STUPOR

A

Conscious, but with little or no spontaneous activity.

55
Q

Characteristics of COMA

A

Unarousable and unresponsive to external stimuli or internal needs.
Often determined by the Glascow Coma Scale.

56
Q

Glascow Coma Scale

A

Max Level 15; 5 for each category:
o Eye Opening
o Verbal Response
o Motor Response

57
Q

Define Brain Death

A

The irreversible loss of function of the brain, including the brain stem

58
Q

Clinical manifestations of brain death

A

• Clinical examination must disclose at least the absence of responsiveness, brain stem reflexes and respiratory effort.

59
Q

Define Persistant Vegetative State

A

Characterized by the loss of cognitive functions and unawareness or self and surroundings. Reflex and vegetative functions remain. Bowel and Bladder Incontinence

60
Q

Minimally conscious state

A

Level of consciousness ebbs and flows in coma

61
Q

Locked-insyndrome

A

The patient has complete cognition, complete wakefulness and awareness but lacks motor ability to demonstrate any of that

62
Q

Degenerative diseases of the cerebral cortex cause ___________

A

Dementia Syndromes

63
Q

Degenerative diseases of the basal ganglia cause ______________

A

Parkinson’s

64
Q

Dementia Syndromes (5). Which is the most common?

A
  • Alzheimer’s Disease (AD): Most common Dementia Syndrome
  • Vascular Dementia (VaD)
  • Parkinson’s Disease with Dimentia (PDD)
  • Frontotemporal Dementia (FTD)
  • Reversible Dementias: Drug abuse, organ failure can induce this.
65
Q

What distinguishes Frontotemporal Dimentia (FTD) from Alzheimer’s?

A

Louis bodies in brains of FTD patients

66
Q

3 physical findings in alzheimer’s patients

A

• 1) Brain atrophy
• 2) Beta amyloid plaques: Protein plaques found inside of the axons of nerve cells in the brain (structural protein → constant turnover)
o In alzheimer’s, there is an impairment of that protein turnover.
• 3) Neuro fibrary tangles
o Nerve fibers that clump together and get tangled
o Thought to be an abnormality in the Tau Protein: In microtubules of axon fibers

67
Q

What are beta amyloid plaques?

How are beta amyloid plaques implicated in alzheimer’s?

A

Beta Amyloid Plaques are protein plaques found inside of the axons of nerve cells in the brain (structural protein → constant turnover)
o In alzheimer’s, there is an impairment of that protein turnover.

68
Q

What are neurofibrilary tangles? How are they implicated in Alzheimer’s?

A

o Nerve fibers that clump together and get tangled

o Thought to be an abnormality in the Tau Protein: In microtubules of axon fibers

69
Q

Parkinson’s: Definition

A

o A collection of disorders that all have similar motor manifestations

70
Q

Parkinson’s: 3 manifestations

A
  • 1) A dampening or slowing down of motor function
  • 2) Involuntary tremors
  • 3) Muscle spasticity / rigidity
71
Q

What part of the brain often degrades in Parkinson’s?

A

Basal ganglia

72
Q

Role of basal ganglia

A

“Prunes” brain commands – smooths them out.

73
Q

What two opposing inputs refine motor command

A

Dopamine and Acetylcholine

74
Q

What dopamine component dies off with Parkinson’s?

A

Substantia Niagra

75
Q

What is Multiple Sclerosis?

A

Lesions in brain visible in imaging

76
Q

Who gets MS?

A
  • More common in women than men

* Onset between 15 and 50

77
Q

8 Clinical Features of MS

A
  • Parasthesia
  • Impaired mobility
  • Relapses and remissions
  • Optic neuritis
  • Lhermitte’s Sign
  • Internuclear opthalmoplegia:
  • Fatigue
  • Uhthoff’s Phenomenon
78
Q

What is Parasthesia

A

“Pins and needles” on half of body – mimics sciatica

79
Q

What is optic neuritis

A

Extreme bluriness or loss of vision in one or both eyes

80
Q

What is Lhermitte’s Sign?

A

: Syndrome where flexion of the neck (forward) causes electric pain down the spine

81
Q

What is Internucear opthampegia?

A

Abnormaliity in occulomotor movements – Nystagmus

82
Q

Uhthoff’s Phenomenon (MS)

A

Symptoms get worse as body heats

83
Q

Mechanism of MS

A

Autoimmune disorder: Patient’s immune system is attacking myelin sheath in brain

Decreased myelenation:
o Slowing down of neuronal firing
o Loss of action potential

84
Q

Four Clinical Types of MS. Which is the most common?

A
  • Remitting / Relapsing MS (RRMS) ← MOST COMMON
  • Secondary progressive MS (SPMS)
  • Primary Progressive MS (PPMS)
  • Progressive / Relapsing MS (PRMS)
85
Q

Characteristics of Remitting / Relapsing MS (4)

A

o Accounts for 85% of MS cases at onset
o Characterized by discrete attacks that generally evolve over days to weeks, often followed by complete recovery.
o Between attacks, patients are neurologically stable.
o Great majority usually evolves into SPMS.

86
Q

Characteristics of Secondary progressive MS (SPMS) (3)

A

o Always begins at RRMS
o At some point, becomes a steady deterioration in function unassociated w. acute attacks (may or may not have attacks)
o Produces a greater amount of fixed neurologic disability than RRMS

87
Q

Characteristics of Primary Progressive MS (PPMS) (2)

A

o Accounts for ~15% of cases

o Steady functional decline from disease onset

88
Q

Characteristics of progressive / Relapsing MS (PRMS (4)

A

o Overlaps PPMS and SPMS
o Acounts for ~5% of MS patients.
o Like PPMS, Patients experience a steady deterioration in their condition from disease onset
o Like SPMS, they experience occasional attacks superimposed on their progressive course.

89
Q

Dietary treatment for MS

A

Ketotic Diet

Pathophys 2 (9 decks)

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