Notes in 18_msk

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Published	12/28/2023	What mutation leads to achondroplasia? Specifically, what is the pathogenesis of the abnormal phenotype?
Published	12/28/2023	Why do patients with achondroplasia have short extremities but normal sized head and chest?
Published	12/28/2023	A patient presents with multiple fractures, blue sclera and hearing loss. What does he have? What is the underlying defect (and inheritence pattern)?
Published	12/28/2023	Why are the sclera blue in osteogenesis imperfecta patients?
Published	12/28/2023	What is osteopetrosis? Describe the pathology that results from the most typical underlying genetic defect:
Published	12/28/2023	What are the clinical features of osteopetrosis (5)? Can you describe the pathophysiology of each?
Published	12/28/2023	What is the treatment for osteopetrosis, and why does it work?
Published	12/28/2023	What is vitamin D deficiency called in adults vs. children?
Published	12/28/2023	What are some clinical features of vitamin D deficiency (rickets) in children (4)?
Published	12/28/2023	What laboratory findings are seen in osteomalacia (4)?
Published	12/28/2023	What is osteoporosis?
Published	12/28/2023	What are the lab findings in osteoporosis?
Published	12/28/2023	Why does Paget disease of bone occur?
Published	12/28/2023	What are the 3 distinct stages of Paget's disease of bone? What is the end result? What does the biopsy reveal?
Published	12/28/2023	What are the clinical features of Paget's disease of bone and what causes each (5)?
Published	12/28/2023	What are the treatments for Paget's disease of bone and how do they work (2)?
Published	12/28/2023	What are the (2) complications of Paget's disease of bone?
Published	12/28/2023	What are the causes and seeding patterns of osteomyelitis in children and adults?
Published	12/28/2023	What common causes of osteomyelitis should be suspected in/in relation to: a) overallb) sexually active young adultsc) Sickle cell diseased) Diab…
Published	12/28/2023	Where does an osteoma most commonly occur? What syndrome is it associated with?
Published	12/28/2023	In whom does an osteoid osteoma typically present?
Published	12/28/2023	Compare and contrast osteoid osteoma with an osteoblastoma:
Published	12/28/2023	What type of bone tumor presents on imaging as a bony mass with a radiolucent core? Why does it appear this way?
Published	12/28/2023	What is the most common benign tumor of bone? What is its characteristic gross feature?
Published	12/28/2023	What part of the bone gives rise to an osteochondroma?
Published	12/28/2023	What part of the bone gives rise to an osteosarcoma (osteogenic sarcoma)? Which bones are most commonly afflicted?
Published	12/28/2023	What part of the bone gives rise to Giant cell tumor (osteoclastoma)?
Published	12/28/2023	Which bone tumor has characteristic "soap bubble" appearance on imaging?
Published	12/28/2023	How does osteosarcoma appear on imaging?
Published	12/28/2023	Which bone tumor is associated w/ the (11:22) translocation?
Published	12/28/2023	Which bone tumor has a characteristic "onion-skin" appearance on imaging?
Published	12/28/2023	What type of cell does Ewing sarcoma arise from?
Published	12/28/2023	What is the most common benign bone tumor?
Published	12/28/2023	Where does a chondroma typically arise? A chondrosarcoma?
Published	12/28/2023	Which type of metastatic tumor produces osteoblastic lesions (in contrast to all other bone mets, which produce osteoclastic leasions)?
Published	12/28/2023	What type of collagen is found in cartilage?
Published	12/28/2023	What is the most common benign soft tissue tumor in adults? What is the most common malignant soft tissue tumor in adults?
Published	12/28/2023	What is the characteristic cell of a liposarcoma?
Published	12/28/2023	What is the most common malignant soft tissue tumor in children?
Published	12/28/2023	Rhabdomyoblasts (characteristic cell of rhabsomyosarcoma) classically stains positive for which cellular marker?
Published	12/28/2023	Where does rhabdomyosarcoma classically present in a young girl? Where is the overall most common presenting site?
Published	12/28/2023	What pathologic process is evident in this X-ray?
Published	12/28/2023	What histological finding does this slide present us with?
Published	12/28/2023	What pathology can be seen in this image?
Published	12/28/2023	This is a gross specimen of what pathology?
Published	12/28/2023	What type of tumor does this histological specimen depict?
Published	12/28/2023	What pathology does this histological specimen depict?
Published	12/28/2023	What pathology is depicted in the histological specimen below?
Published	12/28/2023	Though achondroplasia is considered to be an autosomal dominant inherited disease, how do most patients acquire the mutation?
Published	12/28/2023	Compare and contrast endochondral and intramembraneous bone formation:
Published	12/28/2023	How does vitamin D deficiency result in defective bone mineralization?
Published	12/28/2023	Where do humans obtain their vitamin D?
Published	12/28/2023	How is the inactive form of vitamin D activated (2 steps, be specific)?
Published	12/28/2023	In what 3 places does vitamin D act to raise serum calcium and phosphate?
Published	12/28/2023	What are 5 etiologies of vitamin D deficiency?
Published	12/28/2023	How is the the risk of osteoporosis estimated?
Published	12/28/2023	What are the 2 forms of osteoporosis?
Published	12/28/2023	Clinical features of osteoporosis? Where specifically can fractures occur?
Published	12/28/2023	How is bone density measured?
Published	12/28/2023	What are 2 approved treatments for osteoporosis? One debated treatment? One contraindicated therapeutic?
Published	12/28/2023	How are lytic foci described in cases of osteomyelitis (2 important "vocabulary words")?
Published	12/28/2023	How is the osteomyelitis diagnosis made?
Published	12/28/2023	Avascular/aseptic necrosis (ischemic necrosis of the bone) can be caused by what 5 things?
Published	12/28/2023	What are the 2 major complications of avascular (aseptic) necrosis of the bone?
Published	12/28/2023	What is a rare but highly undesirable complication of osteochondroma?
Published	12/28/2023	What is an osteosarcoma (what is the malignant cell)?
Published	12/28/2023	What are the risk factors for developing an osteosarcoma (4)?
Published	12/28/2023	How does osteosarcoma most typically present?
Published	12/28/2023	In whom do giant cell tumors typically occur?
Published	12/28/2023	In whom does Ewing sarcoma typically arise? Where does it arise?
Published	12/28/2023	Describe the anatomy of the articular surface of a synovial joint (3 aspects):
Published	12/28/2023	What is the most common type of arthritis?
Published	12/28/2023	What are 3 major risk factors for the development of osteoarthritis?
Published	12/28/2023	What joints are affected by osteoarthritis?
Published	12/28/2023	What is the classic presentation of osteoarthritis?
Published	12/28/2023	What are 3 pathologic features of osteoarthritis?
Published	12/28/2023	In cases of osteoarthritis, in what joints do osteophytes typically arise?
Published	12/28/2023	In whom does rheumatoid arthritis typically arise? What HLA type is it associate with?
Published	12/28/2023	What is the hallmark pathology of rheumatoid arthritis?
Published	12/28/2023	What are two key ways in which osteoarthritis and rheumatoid arthritis can be distinguished?
Published	12/28/2023	What joints are classically involved in rheumatoid arthritis?
Published	12/28/2023	What are rheumatoid nodules? What is the classic histological description?
Published	12/28/2023	What is a Baker cyst?
Published	12/28/2023	What is rheumatoid factor?
Published	12/28/2023	What are the 3 seronegative spondyloarthropathies?
Published	12/28/2023	What 3 lab/clinical features do the seronegative spondyloarthropathies share?
Published	12/28/2023	In whom does ankylosing spondylitis present? How does it present (3 symptoms)?
Published	12/28/2023	In whom does Reiter syndrome typically present? How does it present?
Published	12/28/2023	In whom does psoriatic arthritis commonly present? How does it present?
Published	12/28/2023	What are two major causes of infectious arthritis?
Published	12/28/2023	What type of crystals are deposited in gout?
Published	12/28/2023	What is the etiology of hyperuricemia in primary gout? How do gout attacks occur?
Published	12/28/2023	Secondary gout is seen in what 3 conditions?
Published	12/28/2023	What is podagra?
Published	12/28/2023	What are two potential triggers of gout?
Published	12/28/2023	What are two sequelae of long-term gout?
Published	12/28/2023	What laboratory findings would you expect in gout?
Published	12/28/2023	What is pseudogout?
Published	12/28/2023	What makes birefringance "positive" or "negative" ?
Published	12/28/2023	What causes dermatomyositis?
Published	12/28/2023	What are the 3 clinical features of dermatomyositis?
Published	12/28/2023	What are 3 lab findings in dermatomyosits? (Be detailed)
Published	12/28/2023	What is the treatment for dermatomyositis?
Published	12/28/2023	What are three key ways in which dermatomyositis and polymyositis are distinguished?
Published	12/28/2023	X-linked muscular dystrophy can arise spontaneously - why?
Published	12/28/2023	How does Duchenne muscular dystrophy clinically present (3 features)?
Published	12/28/2023	How do Duchenne patients die?
Published	12/28/2023	Against what target are antibodies in myasthenia gravis directed?
Published	12/28/2023	How does MG present clinically?
Published	12/28/2023	What underlying pathologies can MG be associated with?
Published	12/28/2023	Against what target are antibodies in Lambert-Eaton syndrome targeted?
Published	12/28/2023	What pathology is Lambert-Eaton usually associated with?
Published	12/28/2023	What are the clinical features of Lambert-Eaton?
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