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
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
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
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
2 mins
X-Linked Dominant Diseases
- Fragile X
- Alport Syndrome
- Hypophosphatemic Rickets
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
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
embryogenesis (GENES)
- sonic hedgehog
- patterning AP axis
- cns development
- holoproencephaly
- WNT-7
- dorsal ventral axis organization
- HOX
- FGF
Hydrocephalus Types
- Characteristics
- Cerebrospinal Fluid Accumulation
- Types
- Communicating Hydrocephalus
- Noncommunicating Hydrocephalus
- Variants
- Normal Pressure Hydrocephalus
- Hydrocephalus Ex Vacuo
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
2 mins
Normal Pressure Hydrocephalus
- Mechanism
- Elderly
- Idiopathic
- Decreased Absorption of CSF
- Ventricular Enlargement
- Symptom Triad
- Urinary Incontinence
- Ataxia (Gait)
- Cognitive Dysfunction
2 mins
Communicating Hydrocephalus
- Decreased Absorption of CSF by arachnoid granulations
- Arachnoid scarring post-meningitis
- Increased ICP (Intracranial Pressure)
- Papilledema
- Hernia
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
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
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
2 mins
