Ace Your First Aid for the USMLE Step 1 (2023) Classes and Exams with Picmonic: #1 Visual Mnemonic Study Tool for Medicine (MD/DO) Students
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First Aid for the USMLE Step 1 (2023) | Medicine (MD/DO) School Study Aid
McCune-Albright Syndrome Characteristics and Presentation
- Characteristics
- Increased Hormone Production
- Sporadic
- Mutation in GNAS Gene
- Mosaicism
- Clinical Features
- Precocious Puberty
- Cushing Syndrome
- Hyperthyroidism
- Cafe Au Lait Spots
- Fibrous Dysplasia
2 mins
Retinitis Pigmentosa
- Characteristics
- Hereditary Retinal Degeneration
- Clinical Features
- Night Blindness
- Contrast and Color Defects
- Tunnel Vision
- Associations
- Abetalipoproteinemia
- Kearns-Sayre Syndrome
- Refsum Disease
- Diagnosis
- Bone Spicule-shaped Retinal Deposits
- Considerations
- Permanent Blindness
2 mins
Familial Hypercholesterolemia (Type IIa Familial Dyslipidemia)
- INHERITANCE
- Autosomal Dominant
- PATHOGENESIS
- Defective or Absent LDL Receptors
- Defective Apolipoprotein B-100 (ApoB-100)
- Lab Findings
- Increased LDL
- Decreased HDL
- Type IIb also has Increased VLDL
- Symptoms/Findings
- Accelerated Atherosclerosis
- Achilles Tendon Xanthomas
- Xanthelasma
- Corneal Arcus
4 mins
Beta Thalassemia
- Mechanism
- Microcytic, Hypochromic Anemia
- Mediterranean Populations
- Decreased Beta-Globin
- Beta-Thalassemia Minor
- Increased HbA2
- No Intervention
- Beta-thalassemia Major
- Blood Transfusions
- Hemochromatosis
- Crew-cut on Skull X-Ray
- Diagnosis
- Electrophoresis
2 mins
Prader-Willi Syndrome
- Mechanism
- Maternal Imprinting
- Deletion of Chromosome 15q (Paternal Deletion)
- Signs And Symptoms
- Hyperphagia
- Truncal Obesity
- Hypogonadism
- Undescended Testicles (Cryptorchidism)
- Intellectual Disability (Mental Retardation)
- Neonatal Hypotonia (Floppy Baby)
- Almond Shaped Eyes
- Narrow Bifrontal Diameter
- Thin Upper Lip
3 mins
Angelman's Syndrome
- Mechanism
- Paternal Imprinting
- Deletion of Chromosome 15q (Maternal Deletion)
- Signs And Symptoms
- Happy Puppet Syndrome
- Inappropriate Laughter
- Ataxia
- Severe Intellectual Disability (Mental Retardation)
- Seizure
- Abnormal EEG
2 mins
Fibrous Dysplasia
- Pathophysiology
- Bone Replaced by Collagen and Fibroblasts
- Location
- Face and Skull
- Ribs
- Long Bones of Arms and Legs
- Sign and Symptom
- Bone Pain
- Diagnosis
- "Ground Glass" Appearance on Imaging
- Complication
- Fracture
- Association
- McCune-Albright Syndrome
- Treatment
- Supportive
2 mins
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