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MSK Final
Lipid Metabolism and Ketogenesis
Lipid Metabolism
Acetyl-CoA
Biotin Cofactor
Malonyl-CoA
Fatty Acids
Triglycerides
Glycerol
DHAP
Acetoacetyl-CoA
HMG-CoA
HMG-CoA Reductase
Mevalonate
Cholesterol
Ketogenesis
Acetoacetate
Beta-Hydroxybutyrate
4 mins
Classic Galactosemia
Pathophysiology
Autosomal Recessive
Galactose-1-phosphate uridyltransferase is Absent (GALT)
Impaired Galactose-1-P to UDP-Galactose
Galactitol Accumulation in Lens
Signs and Symptoms
Infantile Cataracts
Failure to Thrive
Hepatomegaly
Jaundice
Intellectual Disability
Increased Risk E. Coli Sepsis
2 mins
Galactokinase Deficiency
Autosomal Recessive
Galactose to Galactose 1P
Galactose Appears in Blood and Urine
Benign
Infantile Cataracts
Failure to Develop a Social Smile
2 mins
Fructose Intolerance
Pathophysiology
Deficiency of Aldolase B
Fructose 1-P To DHAP And GA
Accumulation Of Fructose-1-Phosphate
Inhibition Of Glycogenolysis
Inhibition Of Gluconeogenesis
Clinical Features
Hypoglycemia
Vomiting
Jaundice
Cirrhosis
Autosomal Recessive
2 mins
Fructose Metabolism
Liver Fructose Metabolism
Fructose
Fructokinase
Fructose-1-Phosphate
Aldolase B
DHAP
Glyceraldehyde
Glyceraldehyde-3-Phosphate
2 mins
Essential Fructosuria
Autosomal Recessive
Defect in fructokinase
Fructose to fructose 1-P
Benign
Fructose appears in blood and urine
Fructose does not enter cells
54 secs
Vitamin B12 (Cobalamin) Mechanism and Deficiency
Mechanism
Cobalamin
Large reserve pool in the liver
Homocysteine to methionine
Methylmalonyl CoA to succinyl CoA
Deficiency Signs and Symptoms
Macrocytic Megaloblastic Anemia
Hypersegmented Neutrophils
Neurologic defects
Posterior column
Lateral corticospinal tract
Spinocerebellar tract
5 mins
Vitamin B12 (Cobalamin) Deficiency Causes
Causes
Vegans
Pernicious Anemia
Gastric Bypass Surgery
Malabsorption
Sprue
Enteritis
Crohn's Disease
Diphyllobothrium latum
4 mins
Von Gierke Disease
Pathophysiology
Autosomal Recessive
Type I Glycogen Storage Disease
Glucose-6-Phosphatase Deficiency
Signs and Symptoms
Increased Glycogen in Liver
Hepatomegaly
Enlarged Kidneys
Severe Fasting Hypoglycemia
Increased Triglycerides
Increased Uric Acid (Gout)
Increased Lactic Acid
Doll-like Facies
Treatment
Continuous Oral Glucose (or Cornstarch)
Avoid Fructose and Galactose
2 mins
Anterior Shoulder Dislocation
Axillary Nerve Damage
Axillary Artery
Rotator Cuff Injury
Supraspinatus Tendon
Anterior Glenohumeral Ligament
Anatomic Lesions
Bankart's Lesion
Hill-Sachs Lesion
1 min
Anterior Lower Leg Anatomy
Innervation
Deep Peroneal Nerve
General Action
Dorsiflex Foot
Muscles
Tibialis Anterior
Invert Foot
Extensor Digitorum Longus
Extend 4 Toes
Extensor Hallucis Longus
Extend Great Toe
1 min
Anterior Thigh Muscles
Innervation
Femoral Nerve
Muscles
Iliopsoas
Psoas Innervated by L1-3
Sartorius
Pectineus
Quadriceps Femoris
Vastus Lateralis
Vastus Intermedius
Vastus Medialis
Rectus Femoris
2 mins
Ehlers-Danlos Syndrome Types
Types
Types 1 and 2 - Classical
Type V Collagen Mutation
Joints and Skin
Type 3 - Hypermobility
Most Common
Tenascin X Deficiency
Joint Instability
Type 4 - Vascular
Type III Collagen Mutation
Vascular and Organ Rupture
2 mins
Paget's Disease of Bone
Pathophysiology
Men > Age 40
Increased Osteoblast and Osteoclast activity
Mosaic Pattern
Signs and Symptoms
Increased Skull Diameter
Hearing Loss
Fractures
Bone Ache and Joint Pain
High Output Heart Failure
Diagnosis
Bone Scan
Normal Parathyroid hormone (PTH) and Calcium
Elevated ALP
Treatment
Bisphosphonate
Calcitonin
2 mins
Osteopetrosis (Marble Bone Disease)
Pathophysiology
Defective Osteoclast Resorption
Carbonic Anhydrase II Mutation
Lack of Acidic Environment
Symptoms
Fractures
Nerve Palsies
Diagnosis
Myelophthisic Anemia
Erlenmeyer Flask Bones
Normal ALP and PTH
Normal Calcium and Phosphorus
Bone-in-bone Appearance
Treatment
Bone Marrow Transplant
2 mins
Achondroplasia
Mechanism
Autosomal Dominant
Advanced Paternal Age
Most Common Cause of Dwarfism
Mutation of FGFR3 (Fibroblast Growth Factor Receptor 3)
Defective Endochondral Ossification
Symptoms
Delayed Motor Milestones
Shortened Limbs with Normal Axial Skeleton Size
May Develop Hydrocephalus
Symptoms of Spinal Stenosis
Normal Life Span and Fertility
2 mins
Osteomyelitis
Cause/Mechanism
Bone Infection
Assessment
Warmth
Edema
Constant Bone Pain
Fever
Interventions
IV Antibiotics
Implanted Beads
Hyperbaric Oxygen
Surgical Removal of Ischemic Tissue
Considerations
Elevated ESR
3 mins
Gout Disease
Acute Inflammatory Monoarthritis
Epidemiology
Primarily in Males
Pathophysiology
Precipitation of Monosodium Urate Crystals
Underexcretion of Uric Acid
Overproduction of Uric Acid
Negatively Birefringent, Needle-Shaped
Symptoms
Swollen, Red, Painful Joint
Asymmetric Joint Distribution
Podagra
Tophus
After Large Meal or Alcohol
2 mins
Gout Treatment
Acute (Acute-angle)
NSAIDs
Glucocorticoids
Colchicine
Impairs Leukocyte Chemotaxis
Chronic Gout (Crone Goat)
Inhibit Xanthine Oxidase
Allopurinol
Febuxostat
Inhibit Reabsorption of Uric Acid
Probenecid
1 min
Pseudogout
Pathophysiology
> 50 Years Old
Arthritis of Large Joints (Classically the Knee)
Calcium Pyrophosphate Crystals
Diagnosis
Positively Birefringent
Chondrocalcinosis (On X-ray)
Treatment
NSAIDs
Colchicine
Steroids
1 min
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