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DISkO Exam 1
Primary Hyperparathyroidism
Assessment
Hypercalcemia
Kidney Stones
Osteoporosis
Arrhythmias
Diagnostic Tests
Increased Calcium and Decreased Phosphorus
Considerations
Prevent Injury
Medication Education
Surgery
1 min
Hypoparathyroidism
Assessment
Hypocalcemia
Lethargy
Tetany
Arrhythmias
Diagnostic Tests
Decreased Calcium and Increased Phosphorus
Considerations
IV Calcium Chloride
Rebreather Mask
Lifelong Medications
Oral Calcium Supplements with Vitamin D
2 mins
MEN 1 (Multiple Endocrine Neoplasia)
Pathophysiology
Autosomal Dominant
Menin Mutation (Tumor Suppression Gene)
Chromosome 11
Signs and Symptoms
Pancreatic Endocrine Tumors
Pituitary Tumors
Parathyroid Adenomas
2 mins
MEN 2A (Multiple Endocrine Neoplasia)
Pathophysiology
Autosomal Dominant
RET Gene
Signs and Symptoms
Medullary Thyroid carcinoma
Calcitonin
Parathyroid
Pheochromocytoma
45 secs
Thymic Aplasia (DiGeorge Syndrome)
Pathophysiology
DiGeorge Syndrome
22q11 Deletion
Failure to Develop Third and Fourth Pharyngeal Pouches
Signs and Symptoms
Undeveloped Thymus
T Cell Deficiency
Recurrent Viral and Fungal Infections
Undeveloped Parathyroids
Hypocalcemia
Tetany
Aortic Defects
Congenital Heart Defects
Diagnosis
Absent Thymic Shadow on CXR
2 mins
Pseudohypoparathyroidism Type 1A
Characteristics
Defect in PTH Receptor
Increased PTH
Hypocalcemia and Hyperphosphatemia
Autosomal Dominant
Mutation in GNAS Gene
Maternal Imprinting
Clinical Features
Short Stature
Shortened 4th Fingers
Developmental Delay
Subcutaneous Calcifications
Tetany
Seizures
Management
Calcium and Vitamin D Supplementation
3 mins
Secondary Hyperparathyroidism
Characteristics
Hypocalcemia or Hyperphosphatemia
Increased Parathyroid Hormone (PTH)
Increased Alkaline Phosphatase (ALK-P)
Reactive Parathyroid Hyperplasia
Etiologies
Chronic Kidney Disease
Vitamin D Deficiency
Diagnosis
Laboratory Tests
Management
Treat Underlying Disorder
Phosphate Binders
Vitamin D Supplements
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)
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
2 mins
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
1 min
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
Osteosarcoma
Pathophysiology
Osteogenic Sarcoma
Peak incidence men 10-20 years old
Metaphysis of Long Bones
Knee Region
Radiation
Familial Retinoblastoma
Paget's Disease
Diagnosis
Codman Triangle
Sunburst Pattern from Elevated Periosteum
Grave Prognosis
2 mins
Chondrosarcoma
Pathophysiology
Cartilaginous tumor
Malignant
Men 30-60 years old
Pelvic and femur bones
Signs & Symptoms
Glistening mass in medullary cavity
Can be primary in origin or from osteochondroma
Metastasize to lungs
1 min
Ewing's Sarcoma
Epidemiology
Most Common in Boys < 15 years old
Pathophysiology
11;22 Translocation
Characteristics
Long bones, Pelvis, Ribs
Diaphysis
Small Blue Cells
Malignant
Aggressive
Onion-skin Appearance
TREATMENT
Responsive to Chemotherapy
2 mins
Giant Cell Tumor
Pathophysiology
Osteoclastoma
Epiphyseal End of Long Bones
Peak Incidence 20-40 Years
Benign
Knee Region
Diagnosis
Soap Bubble Appearance on X-ray
Spindle-shaped Cells
Multinucleated Giant Cells
46 secs
Osteochondroma
Characteristics
Most Common Benign Bone Tumor
Males Under 25
Cartilage-capped Spurs
Metaphysis of Long Bones
Small Risk of Chondrosarcoma
Clinical Features
Painless Mass near Joint
Painful if Growing or Malignant
Workup
X-Ray
MRI if Concern for Malignancy or Functional Limitation
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