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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
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)
6 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)
1 min
Protein C or S Deficiency
Pathophysiology
Autosomal Dominant
Inability to Inactivate Factor Va and VIIIa
Symptoms
Hypercoagulable State
Recurrent DVTs or DVTs at Young Age
Treatment
Begin Heparin
Slowly Bridge to Warfarin
Hemorrhagic Skin Necrosis
2 mins
Hemoglobin
Hemoglobin Has Four Iron Hemes
Lots Of Hemoglobin In Red Blood Cells
High O2 Levels Increase O2 Binding
High Temperature Reduces O2 Binding
High CO2 Levels Reduce O2 Binding
Low pH Reduces O2 Binding
Myoglobin Binds Oxygen in Muscle
2 mins
Cell-mediated Adaptive Immune Response
Characteristics
Macrophages and Dendritic Cells Present Antigens
T Cell Develops Antigen Specificity
Regulatory T Cells Suppress Response
Memory T Cells Cause Faster Secondary Response
Cytotoxic T Cells Lyse Infected Cells
Infected Cells Present Antigen On Surface
2 mins
Innate Immunity Cellular Response
Characteristics
Natural Killer Lymphocytes Attack Abnormal Cells
Neutrophils in Blood
Infected Cells Release Interferon
Complement Proteins Lyse Pathogens/Infected Cells
Dendritic Cells in Tissue
Macrophages in Tissue
2 mins
Humoral Adaptive Immunity
Characteristics
B Cell Binds Free Floating Antigen
B Cell Presents Antigen to Helper T Cell
Helper T Cells Help B Cells Develop Antigen Specificity
Plasma B Cells Secrete Antibodies
Memory B Cells Cause Faster Secondary Response
2 mins
Innate Immunity Barriers
Skin Protects Against Pathogens
Normal Flora Outcompete Pathogens
Lysozyme in Saliva, Tears, and Mucus
Mucous Traps Pathogens
Cilia Remove Mucus
Acid and Digestive Enzymes in the Stomach Kill Pathogens
2 mins
Inflammatory Response
Pathogens Infect Tissue
Mast Cells Release Histamine
Histamine Dilates and Increases Capillary Permeability
Macrophages Engulf Pathogens
Macrophage Signals Cells With Cytokines
Responding Neutrophils Cross Capillary Wall
B And T Lymphocytes Arrive At Injury Site
2 mins
Immune System Tissues
Characteristics
Bone Marrow
B Cells and T Cells Formed
B Cells Mature
Thymus
T Cells Tested For Self-Response
T Cells Mature
Lymph Nodes
Mature B Cells and T Cells Monitor Lymph For Pathogens
Spleen
Mature B Cells and T Cells Monitor Blood For Pathogens
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
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
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
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
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
Krabbe Disease
Pathophysiology
Autosomal Recessive
Galactocerebrosidase Deficiency
Increased Psychosine
Signs and Symptoms
Developmental Delay
Peripheral Neuropathy
Optic Atrophy
Diagnosis
Globoid Cells
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
Metachromatic Leukodystrophy
Pathophysiology
Autosomal Recessive
Arylsulfatase A Deficiency
Increased Cerebroside Sulfate
Signs and Symptoms
Demyelination
Ataxia
Dementia
1 min
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
4 mins
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