Lucas Shared "SUME2" - 35 Picmonics
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SUME2
Selective IgA Deficiency
- Pathophysiology
- Defect in Class Switching
- Decreased IgA
- Signs and Symptoms
- Often Asymptomatic
- Increase in Atopic & Autoimmune Diseases
- Sinopulmonary Infections
- Increased Risk Giardia Lamblia Infections
- Inflammatory Bowel Disease
- Celiac Disease
- Considerations
- Anaphylaxis From IgA Containing Blood Products
2 mins
I-cell Disease (Inclusion Cell Disease)
- Pathophysiology
- Mucolipidosis II
- Autosomal Recessive
- Defective N-acetylglucosaminyl-1-phosphotransferase
- Absent Mannose-6-Phosphate on Glycoproteins
- Accumulation of Lysosomal Debris
- Signs & Symptoms
- Coarse Facies
- Corneal Clouding
- Skeletal Abnormalities
- Diagnosis
- Increased Plasma Lysosomal Enzymes
- Inclusion Bodies
- Considerations
- Poor Prognosis
3 mins
Lesch-Nyhan Syndrome
- ETIOLOGY
- X-linked Recessive
- Pathophysiology
- Absence of HGPRT
- Hypoxanthine to IMP
- Guanine to GMP
- PRPP is Increased
- Excess Uric Acid
- Signs & Symptoms
- Gout
- Intellectual Disability
- Self-mutilation
- Choreoathetosis
- Treatment
- Allopurinol
- Febuxostat
3 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
1 min
G6PD Deficiency
- X-linked Recessive
- Hemolytic Anemia
- Inflammatory Response
- Fava Beans
- Sulfonamides
- Primaquine
- Anti TB Drugs
- Heinz Bodies
- Bite Cells
- Prevalent Among African Americans due to Increased Malarial Resistance
2 mins
Ornithine Transcarbamylase Deficiency
- Pathophysiology
- Most Common Urea Cycle Disorder
- X-Linked Recessive
- Signs and Symptoms
- Hyperammonemia
- Decreased BUN
- Carbamoyl Phosphate is Converted to Orotic Acid
- Pyrimidine Synthesis Pathway
- Evident in Babies
3 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
Cori Disease
- Pathophysiology
- Type III Glycogen Storage Disease
- Deficiency of Alpha 1, 6 Glucosidase
- Debranching Enzyme
- Limit-Dextrin Accumulation (In Cytosolic Structures)
- Signs and Symptoms
- Hypoglycemia
- Muscle Weakness
- Hypotonia
- Stunted Growth
- Hepatomegaly
- Diagnosis
- Normal Blood Lactic Acid Levels
- Gluconeogenesis Intact
- Increased LFT's
- Increased Creatine Kinase (CK/CPK)
- Treatment
- Continuous Feeding
- High Protein Diet
- Cornstarch (Uncooked)
4 mins
Maple Syrup Urine Disease
- Pathophysiology
- Defect in alpha ketoacid dehydrogenase
- Blocked degradation of branched chain amino acids
- Leucine
- Isoleucine
- Valine
- Signs and Symptoms
- Seizures
- Intellectual Disability
1 min
Vitamin C Mechanism and Deficiency
- Mechanism
- Ascorbic acid
- Antioxidant
- Protects Against Free Radicals
- Keeps Iron in Reduced State
- Hydroxylation of Proline and Lysine
- Necessary for Dopamine B Hydroxylase
- Deficiency Signs and Symptoms
- Scurvy
- Swollen Gums
- Bruising
- Poor Wound Healing
- Hemarthrosis
- Perifollicular Hemorrhages
- Anemia
4 mins
Adenosine Deaminase Deficiency
- Adenosine to Inosine
- Excess ATP
- Inhibition of Ribonucleotide Reductase
- Prevents DNA Synthesis
- Decreases B Cells and T Cells
- Major cause of SCID
1 min
Severe Combined Immunodeficiency (SCID)
- Both B and T Cell Deficiency
- Recurrent Viral, Bacterial, Fungal, Protozoal Infections
- Defective Interleukin (IL) 2 Receptor
- X-Linked
- Adenosine Deaminase Deficiency
- Failure to Synthesize MHC II Antigens
- Treat with Bone Marrow Transplant
2 mins
Hypersensitivity Type I
- Previous Antigen Exposure
- Immediate Reaction
- IgE Cross-linking
- Presensitized Mast Cells
- Histamine Release
- Vasodilation
- Anaphylaxis
- Allergies
- Treatment
- Epinephrine
1 min
Hypersensitivity Type II
- Cytotoxic
- IgM or IgG antibody-mediated
- Membrane Attack Complex (MAC)
- Mechanism
- Opsonization
- Complement Activation
- NK Cells
- Testing
- Direct Coombs test
- Indirect Coombs Test
1 min
Hypersensitivity Type III
- Immune Complex
- Antigen-antibody (IgG) complex activates complement
- Neutrophils release lysozomal enzymes
- Examples
- Arthus Reaction
- Serum Sickness
- Systemic Lupus Erythematosus (SLE)
1 min
Hypersensitivity Type IV
- Delayed-Type Hypersensitivity
- T Cell Mediated
- Antibody Independant
- Macrophages Activated
- Examples
- Transplant Rejection
- PPD Skin Test
- Contact Dermatitis
1 min
Xeroderma Pigmentosum
- Pathophysiology
- Defective Nucleotide Excision Repair
- Pyrimidine Dimer Accumulation
- Autosomal Recessive
- Susceptible to UVA and UVB Rays
- Presentation
- Actinic Keratosis
- Neurodegeneration
- Photosensitivity
- Corneal Ulcers
- Hyperpigmented Lentigines
- Considerations
- Increased Risk of Skin Cancer
3 mins
Atopic Dermatitis / Eczema
- Presentation
- Pruritic Vesicles
- Inflammatory Skin Rash
- Cheeks in Children
- Skin Flexural Areas
- Associated with Asthma and Allergic Rhinitis
- Treatment
- Tacrolimus
- Moisturizers
- Corticosteroids
- Phototherapy
- Avoid Triggers
- Antihistamines
2 mins
Chronic Granulomatous Disease
- Pathophysiology
- Most Commonly X-linked Recessive
- Defective NADPH Oxidase (Enzyme Complex)
- Decreased Hydrogen Peroxide
- Impaired Intracellular Killing in Phagocytes
- Signs and Symptoms
- Recurrent Purulent Skin and Lung Infections
- Catalase Positive Organisms
- Diagnosis
- Negative Nitroblue Tetrazolium Test
- DHR (Dihydrorhodamine) Flow Cytometry
- Treatment
- Antimicrobial Prophylaxis
- TMP-SMX
- Itraconazole
- Interferon-Gamma
3 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
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