Andrew Shared "CMBL Week 8" - 11 Picmonics

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CMBL Week 8

Osteogenesis Imperfecta
Pathophysiology
Autosomal Dominant
Decreased Type I Collagen Production
Symptoms
Phenotypically Diverse
Brittle Bone Disease
Fractures from Minimal Trauma
Confused with Child Abuse
Hearing Loss
Dental Imperfections
Blue Sclera
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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
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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
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1 min
Low Blood Pressure Response
Characteristics
Posterior Pituitary Releases Vasopressin
Vasoconstriction
Adrenal Cortex Releases Aldosterone
Increased Na+ and H2O Reabsorption
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1 min
High Blood Pressure Response
Characteristics
Atria Release Atrial Natriuretic Peptide
Vasodilation
Antagonizes Aldosterone
Na+ and Water Excreted
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1 min
Anion Gap Metabolic Acidosis
Pathophysiology
Increased Anion Gap
MUDPILES
Methanol
Uremia
Diabetic Ketoacidosis (DKA)
Propylene Glycol
Isoniazid or Iron
Lactic Acid
Ethylene Glycol
Salicylates
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1 min
Von Willebrand Disease
Mixed platelet and coagulation disorder
Mechanism
Autosomal Dominant Condition Leading to Reduced vWF
Defect in platelet plug formation
Labs
Increased Bleeding Time
PTT increased
Factor VIII decreased
Normal platelet count
Treatment
DDAVP (synthetic vasopressin)
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1 min
Bernard-Soulier Syndrome
Mechanism
Autosomal Recessive
Deficiency of Glycoprotein Ib (GpIb) Receptor
Symptoms
Mucosal Membrane Bleeding
Menorrhagia
Easy Bruising
Labs
Large Platelets
Increased Bleeding Time
No Platelet Agglutination with Ristocetin
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3 mins
Coagulation Cascade
Secondary Hemostasis
Intrinsic Pathway
Partial Thromboplastin Time (PTT)
Heparin
Extrinsic Pathway
Prothrombin Time (PT)
Warfarin
Common Pathway
Thrombin
Convert Fibrinogen to Fibrin
Stabilizes the Platelet Plug
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2 mins
Clotting Overview
Characteristics
Endothelial Cells are Damaged
Platelets Respond to Exposed Collagen and Stick
Platelets Release Recruiting Factors
More Platelets are Attracted
Soluble Fibrinogen Turns to Insoluble Fibrin
Fibrin Seals the Clot
Clot Dissolves
Liver Produces Clotting Factors
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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)
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2 mins

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