Austin Shared "MOD I" - 73 Picmonics
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MOD I
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
Patau Syndrome
- Pathophysiology
- Trisomy 13
- Signs and Symptoms
- Severe Intellectual Disability
- Microcephaly
- Holoprosencephaly
- Microphthalmia
- Polydactyly
- Cleft Lip/Cleft Palate
- Rocker Bottom Feet
- Omphalocele
- Cystic Kidneys
- Ventricular Septal Defect (VSD)
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
Edwards Syndrome
- Pathophysiology
- Trisomy 18
- Signs and Symptoms
- Intellectual Disability (Mental Retardation)
- Rocker Bottom Feet
- Ventricular Septal Defect (VSD)
- Clenched Hands
- Overlapping Fingers
- Low-Set Ears
- Micrognathia
- Prominent Occiput
- Omphalocele
- Meckel's Diverticulum
- Horseshoe Kidney
- Malrotation of Intestines
3 mins
Down Syndrome
- Pathophysiology
- Trisomy 21
- Meiotic Nondisjunction
- Signs and Symptoms
- Intellectual Disability (Mental Retardation)
- Single palmar crease
- Flat Facies
- Duodenal Atresia
- Hirschsprung's Disease
- Septum Primum Type ASD
- Endocardial Cushion Defects
- Prominent Epicanthal Folds
- Increased Risk of Acute Lymphoblastic Leukemia
- Alzheimer's Disease
3 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
Ehlers-Danlos Syndrome Disease
- Pathophysiology
- Faulty Collagen Synthesis
- Autosomal Dominant or Recessive
- Various Severities
- Signs and Symptoms
- Hypermobile Joints
- Hyperextensible Skin
- Easy Bruising/Bleeding
- Berry (Saccular) Aneurysm
- Considerations
- Brighton Criteria
2 mins
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
Hunter Syndrome
- Pathophysiology
- X-linked Recessive
- Mucopolysaccharidoses
- Iduronate Sulfatase Deficiency
- Increased Dermatan Sulfate
- Increased Heparan Sulfate
- Signs and Symptoms
- No Corneal Clouding
- Aggressive Behavior
1 min
Niemann-Pick Disease
- Pathophysiology
- Autosomal Recessive
- Sphingomyelinase Deficiency
- More Common in Ashkenazi Jewish Population
- Signs and Symptoms
- Cherry Red Spot on Macula
- Hepatosplenomegaly
- Neurodegeneration
- Diagnosis
- Foam Cells
1 min
Hurler Syndrome
- Pathophysiology
- Autosomal Recessive
- Mucopolysaccharidoses
- Alpha-L-Iduronidase Deficiency
- Increased Heparan Sulfate
- Increased Dermatan Sulfate
- Signs and Symptoms
- Hepatosplenomegaly
- Developmental Delay
- Gargoylism
- Corneal Clouding
- Airway Obstruction
2 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
Gauchers Disease
- Pathophysiology
- Autosomal Recessive
- Beta Glucocerebrosidase Deficiency
- Diagnosis
- Lipid-laden Macrophages
- Crumpled Tissue Paper
- Signs and Symptoms
- Osteoporosis
- Bone Crises
- Aseptic Necrosis of Femur
- Erlenmeyer Flask Deformity
- Hepatosplenomegaly
- Pancytopenia
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
Anaphylaxis Intervention
- Intervention
- Assess Airway and Oxygen Needs
- Reassure Patient with Anxiety
- Supine Position
- Methylprednisolone (Solu-medrol)
- Epinephrine
- Diphenhydramine (Benadryl)
- Medical Alert Bracelet
2 mins
Systemic Lupus Erythematosus (SLE) Diagnosis and Clinical Features
- IM DAMN SHARP acronym
- Immunoglobulins
- Malar rash
- Discoid rash
- Antinuclear antibody
- Mucositis
- Neurologic disorders
- Serositis
- Hematologic disorders
- Arthritis
- Renal disorders
- Photosensitivity
2 mins
Systemic Lupus Erythematosus (SLE) Mechanism, Treatment and Complications
- Mechanism and Characteristics
- Systemic Autoimmune Disease
- 9:1 female to male ratio
- Treatment
- Glucocorticoids
- NSAIDS
- Hydroxychloroquine
- Cyclophosphamide
- Complications
- Lupus nephritis
- Libman-Sacks Endocarditis
- Secondary Antiphospholipid Antibody Syndrome
- Other
- Drug-induced lupus
2 mins
