Jake Shared "B3 PATH2" - 23 Picmonics

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B3 PATH2

Niemann-Pick Disease
Pathophysiology
Autosomal Recessive
Sphingomyelinase Deficiency
More Common in Ashkenazi Jewish Population
Signs and Symptoms
Cherry Red Spot on Macula
Hepatosplenomegaly
Neurodegeneration
Diagnosis
Foam Cells
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1 min
Krabbe Disease
Pathophysiology
Autosomal Recessive
Galactocerebrosidase Deficiency
Increased Psychosine
Signs and Symptoms
Developmental Delay
Peripheral Neuropathy
Optic Atrophy
Diagnosis
Globoid Cells
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1 min
Metachromatic Leukodystrophy
Pathophysiology
Autosomal Recessive
Arylsulfatase A Deficiency
Increased Cerebroside Sulfate
Signs and Symptoms
Demyelination
Ataxia
Dementia
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1 min
Gauchers Disease
Pathophysiology
Autosomal Recessive
Beta Glucocerebrosidase Deficiency
Diagnosis
Lipid-laden Macrophages
Crumpled Tissue Paper
Signs and Symptoms
Osteoporosis
Bone Crises
Aseptic Necrosis of Femur
Erlenmeyer Flask Deformity
Hepatosplenomegaly
Pancytopenia
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2 mins
Tay-Sachs Disease
Pathophysiology
Autosomal Recessive
Hexosaminidase A Deficiency
Increased GM2 Ganglioside
More Common in Ashkenazi Jewish Population
Signs and Symptoms
Cherry Red Spot on Macula
Neurodegeneration
Developmental Delay
Diagnosis
Onion Skin Lysosomes
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1 min
Hurler Syndrome
Pathophysiology
Autosomal Recessive
Mucopolysaccharidoses
Alpha-L-Iduronidase Deficiency
Increased Heparan Sulfate
Increased Dermatan Sulfate
Signs and Symptoms
Hepatosplenomegaly
Developmental Delay
Gargoylism
Corneal Clouding
Airway Obstruction
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2 mins
Hunter Syndrome
Pathophysiology
X-linked Recessive
Mucopolysaccharidoses
Iduronate Sulfatase Deficiency
Increased Dermatan Sulfate
Increased Heparan Sulfate
Signs and Symptoms
No Corneal Clouding
Aggressive Behavior
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1 min
Schwannoma
Characteristics
Acoustic Schwannoma
Cranial Nerve VIII
Cerebellopontine Angle
S100 Positive
Bilateral Schwannoma in Neurofibromatosis Type 2
Tinnitus
Cranial Nerve V
Affects Corneal Reflex
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2 mins
Neurofibromatosis Type 1
Pathophysiology
Autosomal Dominant
Chromosome 17
Signs and Symptoms
Neurofibromas
Optic Glioma
Lisch Nodules
Hamartomas
Cafe Au Lait Spots
Scoliosis
Pheochromocytoma
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4 mins
Neurofibromatosis Type 2
Pathophysiology
Autosomal-Dominant
Chromosome 22
Signs and Symptoms
Vestibular Schwannoma
Meningioma
Ependymoma
Cafe Au Lait Spots
Cataracts
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2 mins
Alzheimer's Disease Assessment (Early Symptoms)
Risk Factors
Advanced Age
Early Signs and Symptoms
Poor Judgment and Decision-Making
Difficulty Having a Conversation
Inability to Manage a Budget
Losing Track of the Date or Season
Misplacing Things
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1 min
Alzheimer's Disease Assessment (Late Symptoms)
Late Signs and Symptoms
Memory Impairment
Wandering Behavior
Confabulation
Perseveration
Lack of Abstract Thinking
Severe Cognitive Decline
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1 min
5 A's of Alzheimer's Disease
Agnosia
Anomia
Aphasia
Apraxia
Amnesia
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1 min
Alzheimer's Disease Interventions
Diagnostic Tests
PET Scan and CT
Mini-Mental State Examination
Interventions
Drug Therapy
Safe Environment
Moderate Exercise
Behavioral Modification
Assistance with Functional Independence
Assistance and Support for Caregiver
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2 mins
Causes of Dementia
Reversible Causes
Intoxication or Medications
Depression
Normal Pressure Hydrocephalus
Vitamin B12 Deficiency
Metabolic Conditions
Irreversible Causes
Lewy Body Dementia
Prion Disease
Pick's Disease
AIDS Dementia
Alzheimer's Disease
Multi-infarct (Vascular) Dementia
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2 mins
Parkinson's Disease Assessment
Assessment
Decreased Dopamine
Older Adult
Cogwheel Rigidity
Bradykinesia
Shuffling Gait
Resting Tremor
Pill-Rolling
Mask-Like Face
Cognitive Decline
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2 mins
Parkinson's Disease Interventions
Medications
Levodopa/Carbidopa (Sinemet)
Entacapone (Comtan)
Selegiline (Eldepryl)
Amantadine (Symmetrel)
Bromocriptine (Parlodel)
Benztropine (Cogentin)
Considerations
Allow Extra Time
Ensure Patient Safety
Surgery As Last Resort
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2 mins
Lewy Body Dementia
Pathophysiology
Unknown Etiology
Decreased Acetylcholine
Alpha-synuclein Defect
Eosinophilic Cytoplasmic Inclusion
Signs and Symptoms
Visual Hallucinations
Progressive Dementia
Fluctuating Cognition
REM Sleep Behavior Disorder
Parkinsonism
Treatment
Acetylcholinesterase Inhibitors
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3 mins
Huntington's Disease (DEMO)
Autosomal Dominant
Decreased GABA
Decreased Acetylcholine
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42 secs
Huntington's Disease
Pathophysiology
Autosomal Dominant
Trinucleotide Repeat
CAG Repeats
Chromosome 4
Anticipation
Caudate
Decrease of ACh
Decrease of GABA
Signs and Symptoms
Chorea
Dementia
Depression
Glutamate Toxicity
Neuronal Death via NMDA Binding
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3 mins

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