Andrew Shared "CMBL Week 7" - 24 Picmonics

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CMBL Week 7

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
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2 mins
Down Syndrome
Pathophysiology
Trisomy 21
Meiotic Nondisjunction
Signs and Symptoms
Intellectual Disability (Mental Retardation)
Simian 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
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2 mins
Patau's Syndrome
Trisomy 13
Severe Intellectual Disability (Mental Retardation)
Microcephaly
Holoprosencephaly
Microphthalmia
Polydactyly
Cleft lip/cleft palate
Rocker bottom feet
Cystic kidneys
Ventricular Septal Defect (VSD)
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2 mins
Turner Syndrome
Signs and Symptoms
Female (XO)
Short stature
Shield Chest
Cystic Hygroma (Webbing of Neck)
Lymphedema in Hands and Feet
Ovarian Dysgenesis
Streak Ovary
Decreased Estrogen
Increased FSH
Increased LH
Dysgerminoma
Bicuspid Aortic Valve
Preductal Coarctation of the Aorta
Horseshoe Kidney
Menopause before Menarche
Amenorrhea
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5 mins
Klinefelter's Syndrome
Pathophysiology
Male (XXY)
Signs and Symptoms
Eunuchoid Body Shape
Gynecomastia and Female Hair Distribution
Testicular Atrophy
Dysgenesis of Seminiferous Tubules
Possible Developmental Delay
Hypogonadism
Decreased Inhibin B
Increased FSH
Abnormal Leydig Cell Function
Decreased Testosterone
Increased LH
Increased Estrogen
Barr body (inactivated X chromosome)
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6 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
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
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2 mins
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
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4 mins
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
Heparin Induced Thrombocytopenia (HIT)
Pathophysiology
5-10 Days After Heparin Exposure
Heparin-Platelet Factor 4 Complex
Autoantibodies Form Against Complex
Heparin-Platelet Factor 4-Antibody Complex Binds Platelets
Platelet Aggregation
Procoagulant Release
Symptoms
Thrombocytopenia
Diagnosis
Serotonin Release Assay (SRA)
Treatment
Stop Heparin, Start Direct Thrombin Inhibitor
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2 mins
Warfarin
Mechanism of Action
Interferes with Vitamin K-dependent Clotting Factors
Extrinsic Pathway
Bridge with Heparin
Indications
Chronic Anticoagulation
Side Effects
Bleeding
Necrosis
Cytochrome P450
Contraindications
Pregnancy
Antidote
FFP + Vitamin K
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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
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
Disseminated Intravascular Coagulation (DIC)
Pathophysiology
Bleeding state
Activation of clotting factors
Deficiency of clotting factors
Causes
Sepsis
Trauma
Obstetric complications
Acute Pancreatitis
Malignancy
Nephrotic Syndrome
Transfusion
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2 mins
Vitamin K
Sources
Dark Green Leafy Vegetables
Synthesized by Intestinal Flora
Mechanism
Activated by Epoxide Reductase
Gamma Carboxylation of Glutamate
Activation of Clotting Factors II, VII, IX, X, Protein C and S
Considerations
Deficiency with Broad Spectrum Antibiotics
Neonatal Hemorrhage with Increased PT and aPTT
Warfarin is a Vitamin K Antagonist
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4 mins
Deep Vein Thrombosis (DVT) Characteristics
Mechanism
Virchow's Triad
Venous Stasis
Endothelial Damage
Hypercoagulability
Symptoms
Tenderness
Homan's Sign
Warmth
Redness
Swelling
Asymptomatic
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1 min
Deep Vein Thrombosis (DVT) Management
Diagnosis
Compression Ultrasound (CUS) with Doppler
D-Dimer
Contrast Venography
Treatment
IVC Filter
Heparin for Acute Management
Warfarin for Long-term Management
Thrombectomy/Thrombolysis
Stockings
Walking
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4 mins
Heparin Mechanisms
Mechanism of Action
Short Half-life
Antithrombin Activation Cofactor
Decrease Thrombin, Factor Xa
Side Effects
Bleeding
Heparin Induced Thrombocytopenia (HIT)
Antidote
Protamine Sulfate
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2 mins
Friedreich's Ataxia
Trinucleotide Repeat
GAA Repeat
Frataxin
Mitochondrial Dysfunction
Autosomal Recessive
Hammertoes
High Arches
Kyphoscoliosis
Lateral Corticospinal Tract
Posterior Column
Spinocerebellar Tract
Type I Diabetes Mellitus
Hypertrophic Cardiomyopathy
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1 min
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
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2 mins

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