Wayne Shared "Rare genetic conditions" - 15 Picmonics

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Rare genetic conditions

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
Drugs for Treating Huntington Chorea
Drugs
Reserpine
Tetrabenazine
Haloperidol (Haldol)
Olanzapine
Mechanism of Action
Decreased Dopamine
Block VMAT
Dopamine Receptor Antagonist
Story
Story
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Basal Ganglia
Motor Cortex
Direct Pathway (activates movement)
Striatum Receives input from cortex and substantia nigra compacta
Striatum made of caudate and putamen
Striatum inhibits Globus Pallidus Internus and Substantia Nigra reticularis in Direct pathway
Substantia nigra reticularis and globus pallidus internus inhibit thalamus
Thalamus excites motor cortex
Indirect pathway (blocks movement)
Striatum inhbits Globus Pallidus externus
Globus pallidus externus inhibits subthalamic nucleus
Subthalamic nucleus activates substantia nigra reticularis
Substantia Nigra Compacta releases dopamine to striatum
Dopamine activates direct pathway
Dopamine inhibits indirect path
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Fragile X
Pathophysiology
Trinucleotide Repeat
CGG Repeats
FMR1 Gene
X-linked Dominant
Signs and Symptoms
Developmental Delay
Autism
Large Ears
Large Jaw
Long Face
Macroorchidism
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2 mins
X-Linked Dominant Diseases
Fragile X
Alport Syndrome
Hypophosphatemic Rickets
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Embryogenesis Genes
HOX Genes
Mutation= polydactyly
HOX mutation= Mullerian fusion abnormalities
Gain of function mutation: segment adapts more caudal/posterior development
Loss of function: Segment adapts anterior/rostral development
Sonic Hedgehog Gene
Expressed at base of limbs (development along A-P axis)
Mutation= holoprosencephaly
Produced in zone of polarizing activity
Wnt-7
Produced at apical ectodermal ridge
Organization along dorsal-ventral axis
FGF Gene
Produced at apical ectodermal ridge
Causes lengthening of limbs
PAX
Tissue specialization
Mutation= aniridia
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Embryogenesis Genes
Sonic Hedgehog
Cellular Signaling
Zone Of Polarizing Activity
Posterior (Division)
Apical Ectodermal Ridge
Fibroblast Growth Factor
Distal Median Nerve
Shortened Limbs With Normal Axial Skeleton Size
Wnt-7a
LMX-1
Dorsal
Homeobox
Anterior
Polydactyly
Vitamin A
Transcription Factors
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embryogenesis (GENES)
sonic hedgehog
patterning AP axis
cns development
holoproencephaly
WNT-7
dorsal ventral axis organization
HOX
FGF
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Hydrocephalus Types
Characteristics
Cerebrospinal Fluid Accumulation
Types
Communicating Hydrocephalus
Noncommunicating Hydrocephalus
Variants
Normal Pressure Hydrocephalus
Hydrocephalus Ex Vacuo
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3 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
Normal Pressure Hydrocephalus
Mechanism
Elderly
Idiopathic
Decreased Absorption of CSF
Ventricular Enlargement
Symptom Triad
Urinary Incontinence
Ataxia (Gait)
Cognitive Dysfunction
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2 mins
Communicating Hydrocephalus
Decreased Absorption of CSF by arachnoid granulations
Arachnoid scarring post-meningitis
Increased ICP (Intracranial Pressure)
Papilledema
Hernia
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Dementia
Reversible Causes
B12 Deficiency
Syphilis
Do RPR
Subdural Hematoma
CT
Hypothyroidism
Cirrhosis
Do LFTs
Depression (pseudodementia)
Normal Pressure Hydrocephalus
CT
Symptoms improve with lumbar puncture
Irreversible Causes
Alzheimer's
Pick's Disease
Creutzfeldt-Jakob Disease
Lewy Body Dementia
Vascular Dementia
Step-wise decrease in function
CT
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Noncommunicating Hydrocephalus (Obstructive)
Caused by structural blockage of CSF circulation within ventricular system (stenosis of aqueduct of Sylvius)
Colloid cyst blocking foramen of Monro
Tumors
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Diabetic Glomerulonephropathy
Pathophysiology
Nonenzymatic Glycosylation of Glomerular Basement Membrane
Nonenzymatic Glycosylation of Arterioles
Hyperfiltration
Increased GFR
Histological Findings
Hyaline Arteriolosclerosis
Mesangial Expansion
Type IV Collagen Deposition
Kimmelstiel Wilson Lesions
Presentation
Nephrotic
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2 mins

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