Bryan Shared "4/30 week" - 56 Picmonics

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4/30 week

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
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2 mins
Chediak-Higashi Syndrome
Pathophysiology
Autosomal Recessive
Defective Lysosomal Trafficking Regulator Gene (LYST)
Defect In Microtubular Function
Decrease In Phagocytosis
Signs And Symptoms
Recurrent Pyogenic Infections
Staph Aureus And Streptococci
Partial Albinism
Peripheral Neuropathy
Pancytopenia
Diagnosis
Giant Granules In Granulocytes And Platelets
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2 mins
Hyper IgE Syndrome
Pathophysiology
Job's Syndrome
Abnormal Chemotaxis
Decreased IFN Gamma
Signs and Symptoms
Leonine Facies
Cold Non-Inflamed Staph Aureus Abscesses
Retained Primary Teeth
Eczema
Red Hair
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1 min
Fabry's Disease
Pathophysiology
X-linked Recessive
Alpha-galactosidase A Deficiency
Increased Ceramide trihexoside
Early Signs and Symptoms
Decreased Sweating (Hypohidrosis)
Angiokeratoma
Episodic Peripheral Neuropathy
Late Signs and Symptoms
Cardiovascular Disease
Renal Failure
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1 min
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
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3 mins
Leukocyte Adhesion Deficiency
Pathophysiology
Autosomal Recessive
Integrin CD18 Protein
Defect in LFA-1
Attached to ICAM
Signs and Symptoms
Neutrophilia
Bacterial Infections
Non-Pyogenic
Delayed Separation of Umbilical Cord
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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
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2 mins
Bruton's Agammaglobulinemia
Pathophysiology
X-linked Recessive
Defective Bruton Tyrosine Kinase
Blocks B Cell Maturation
Signs & Symptoms
Decreased Immunoglobulins of All Classes
Bacterial Infections After Six Months
Maternal IgG Protects Before Six Months
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2 mins
Bruton (X-linked) Agammaglobulinemia (DEMO)
X-linked Recessive
Blocks B Cell Maturation
Decreased Immunoglobulins of all Classes
Recurrent Bacterial Infections after 6 Months
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1 min
Hyper IgM Syndrome
Pathophysiology
Deficient CD40 Ligand on Helper T-cells
Defective CD40 Receptor on B-cells
Inability to Class Switch
Signs and Symptoms
Pyogenic Abscess
Decreased IgG, IgA, IgE
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4 mins
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
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2 mins
Salmonella Typhi
Characteristics
Colonizes Gallbladder
Monocytic Immune Response
Symptoms
Typhoid Fever
Abdominal Pain
Rose Spots on Abdomen
Constipation Followed by Diarrhea
Treatments
Ceftriaxone
Fluoroquinolones
Considerations
Oral Vaccine - Live
IM Vaccine - Capsular Polysaccharide
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2 mins
Orotic Aciduria
Pathophysiology
Autosomal Recessive
Defect in UMP Synthase
De Novo Pyrimidine Synthesis Pathway
Symptoms
Increased Orotic Acid in Urine
Megaloblastic Anemia
No Response to B12 or Folate
Non-Hyperammonemic
Failure to Thrive
Treatment
Oral Uridine Monophosphate
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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
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3 mins
Parvovirus B19
Characteristics
DNA
Single Stranded
Linear
Smallest DNA virus
Non-enveloped
Signs and Symptoms
5th Disease
Slapped Cheek Rash in Children
Erythema Infectiosum
Hydrops Fetalis
RBC aplasia
Arthritis in Adults
Aplastic Crisis in Sickle Cell
Myocarditis
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2 mins
Erythema Infectiosum (Fifths Disease)
Mechanism
Human Parvovirus B19
Signs and Symptoms
Cold-like Symptoms
Three Stage Rash
Slapped Face
Maculopapular Red Spots on Trunk
Rash Reappears
Considerations
Aplastic Crisis
Joint Pain and Swelling
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2 mins
Cytomegalovirus (CMV)
Characteristics
Enveloped
Double Stranded DNA
Herpesvirus 5
Diagnosis
Non Heterophile Antibodies
Owl's eye inclusions
Signs and Symptoms
Congenital TORCH infection
Mononucleosis
Pneumonia
AIDS retinitis and esophagitis
Infection in transplant recipients
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2 mins
Pox Virus
Characteristics
Enveloped
Double-Stranded DNA
Linear
Non-Icosahedral
Signs and Symptoms
Smallpox
Cowpox
Molluscum Contagiosum
Umbilicated Flesh-Colored Domed Lesions
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1 min
Roseola
Exanthem
Herpesvirus 6
Enveloped
Double Stranded DNA
Linear
Signs and Symptoms
High Fevers Can Lead to Seizures
Diffuse Macular Rash After Fever
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1 min
Varicella Zoster Virus (VZV)
Herpesvirus 3
Characteristics
Enveloped
Double Stranded DNA
Signs and Symptoms
Chickenpox
Pneumonia
Encephalitis
Trigeminal and Dorsal Root Ganglia
Shingles
Diagnosis
Tzanck Test
Multinucleated Giant Cells
Cowdry A Inclusion
Treatment
Acyclovir
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2 mins

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