Connor Shared "Step 1 Path" - 74 Picmonics
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Step 1 Path
Ehlers-Danlos Syndrome Types
- Types
- Types 1 and 2 - Classical
- Type V Collagen Mutation
- Joints and Skin
- Type 3 - Hypermobility
- Most Common
- Tenascin X Deficiency
- Joint Instability
- Type 4 - Vascular
- Type III Collagen Mutation
- Vascular and Organ Rupture
2 mins
McArdles Disease
- Pathophysiology
- Type V Glycogen Storage Disease
- Muscle Glycogen Phosphorylase Deficiency
- Signs and Symptoms
- Increased Glycogen in Muscle
- Painful Muscle Cramps
- Myoglobinuria
- Normal Lactic Acid
- Treatment
- Vitamin B6
2 mins
Pompe Disease
- Pathophysiology
- Type II Glycogen Storage Disease
- Autosomal Recessive
- Deficiency of Lysosomal Alpha 1,4 Glucosidase
- Acid Maltase
- Signs and Symptoms
- Hypertrophic Cardiomyopathy
- Hepatomegaly
- Macroglossia
- Hypotonia
- Diagnosis
- Increased Glycogen within Lysosomes
- Increased Lactate Dehydrogenase (LDH)
- Increased Creatine Kinase (CK/CPK)
2 mins
Marfan Syndrome
- Mechanism
- Fibrillin-1 Mutation
- Symptoms
- Autosomal Dominant
- Tall
- Arachnodactyly
- Pectus Excavatum
- Hypermobile Joints
- Aortic Aneurysm And Dissection
- Mitral Valve Prolapse (MVP)
- Subluxation of Lens (Superior)
2 mins
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
Wilson's Disease Symptoms
- Cirrhosis
- Hepatocellular Carcinoma
- Basal Ganglia Degeneration
- Dementia
- Dyskinesia
- Asterixis
- Kayser-Fleischer Rings
- Slit Lamp Exam
- Hemolytic Anemia
2 mins
Tuberous Sclerosis
- Characteristics
- Autosomal Dominant
- Signs and Symptoms
- Hamartomas in CNS and Skin
- Phakoma
- Subependymal Giant Cell Astrocytoma
- Seizures
- Intellectual Disability (Mental Retardation)
- Adenoma Sebaceum
- Shagreen Patch
- Ash-leaf Spots
- Renal Angiomyolipoma
- Cardiac Rhabdomyoma
2 mins
Sturge Weber Syndrome
- Pathophysiology
- GNAQ Gene
- Signs and Symptoms
- Port Wine Stain
- Arterial Venous Malformation
- Leptomeningeal Angiomas
- Intellectual Disability
- Seizures
- Pheochromocytoma
- Glaucoma
- Tram-Track Calcifications
3 mins
Von Hippel-Lindau Disease
- Pathophysiology
- Chromosome 3
- Presentation
- Hemangioblastomas
- Medulla, Retina, Cerebellum
- Cysts
- Kidney, Liver, Pancreas
- Develop Bilateral Renal Carcinomas
- Pheochromocytomas
2 mins
Nerve Palsies - Klumpke's Palsy
- Nerve
- C8 to T1 Roots
- Lower Trunk
- Causes
- Upward Arm Force during Delivery
- Adult Trauma
- Grabbing Tree Branch to Break a Fall
- Muscle Affected
- Intrinsic Hand Muscles
- Presentation
- Claw Hand
1 min
Metachromatic Leukodystrophy
- Pathophysiology
- Autosomal Recessive
- Arylsulfatase A Deficiency
- Increased Cerebroside Sulfate
- Signs and Symptoms
- Demyelination
- Ataxia
- Dementia
1 min
Krabbe Disease
- Pathophysiology
- Autosomal Recessive
- Galactocerebrosidase Deficiency
- Increased Psychosine
- Signs and Symptoms
- Developmental Delay
- Peripheral Neuropathy
- Optic Atrophy
- Diagnosis
- Globoid Cells
1 min
Amyotrophic Lateral Sclerosis (ALS)
- Assessment
- Progressive Muscle Weakness
- Systemic Muscle Wasting
- Fasciculations
- Spasticity
- Fatigue
- Considerations
- Riluzole (Rilutek)
- Stretching
- Little to No Cognitive Decline
- Respiratory Support
- Palliative Care
2 mins
Wernicke-Korsakoff Syndrome
- Thiamine deficiency
- Confusion
- Ophthalmoplegia
- Ataxia
- Korsakoff
- Confabulation
- Personality Changes
- Memory loss
- Alcoholics
- Damage to medial dorsal nucleus
- Damage to mammillary bodies
2 mins
Gilbert's Syndrome
- Pathophysiology
- Decreased UDP-Glucuronosyltransferase Activity
- Decreased Bilirubin Conjugation
- Signs and Symptoms
- Often Asymptomatic
- Jaundice (Mild)
- Fasting
- Stress
- Alcohol Intake
- Labs
- Increased Unconjugated Bilirubin
2 mins
Crigler-Najjar Syndrome Type 1
- Pathophysiology
- Autosomal Recessive
- Absent UDP-glucuronosyltransferase
- Symptoms
- Neonatal Jaundice
- Kernicterus
- Diagnosis
- Normal Liver Function Tests
- Elevated Unconjugated Bilirubin
- Treatment
- Phototherapy
- Plasmapheresis
- Calcium Phosphate and Orlistat
- Death often by Age 2
- Considerations
- No Response to Phenobarbital
3 mins
Wilson's Disease Pathophysiology
- Autosomal Recessive
- Mutation in ATP7B gene
- Chromosome 13
- Decrease in Ceruloplasmin
- Inadequate copper excretion
- Liver
- Brain
- Kidney
- Cornea
- Joints
- Treat with Penicillamine
2 mins
Hemochromatosis Pathophysiology
- Pathophysiology
- Hemosiderin Deposition
- Autosomal Recessive
- HLA-A3
- Secondary to Transfusion Therapy
- Increase Iron
- Increase Ferritin
- Increased Transferrin Saturation
2 mins
Turner Syndrome
- Signs and Symptoms
- Female (XO)
- Short stature
- Shield Chest
- Cystic Hygroma (Webbing of Neck)
- Lymphedema in Hands and Feet
- Ovarian Dysgenesis
- Streak Ovary
- Decreased Estrogen
- Increased FSH
- Increased LH
- Dysgerminoma
- Bicuspid Aortic Valve
- Preductal Coarctation of the Aorta
- Horseshoe Kidney
- Menopause before Menarche
- Amenorrhea
5 mins
Klinefelter's Syndrome
- Pathophysiology
- Male (XXY)
- Signs and Symptoms
- Eunuchoid Body Shape
- Gynecomastia and Female Hair Distribution
- Testicular Atrophy
- Dysgenesis of Seminiferous Tubules
- Possible Developmental Delay
- Hypogonadism
- Decreased Inhibin B
- Increased FSH
- Abnormal Leydig Cell Function
- Decreased Testosterone
- Increased LH
- Increased Estrogen
- Barr body (inactivated X chromosome)
6 mins
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