New run-through

Mutation of FGFR3?

-explain?

-common cause of? Presentation? In other words, (endochondrial/intramembranous) bone formation is affected

-achondroplasia

-impaired proliferation of cartilage at the growth plate

-dwarfism; short arms and legs with normal head and chest; endochondrial

Long bones grow by (endochondrial/intramembranous) bone formation; explain?

Flat bones grow by (endochondrial/intramembranous) bone formation; explain?

-endochondrial; a cartilage matrix forms, that gets replaced by bone

-intramembranous; bone forms without a pre-existing matrix

Osteopetrosis is due to defect of __ by __

-resulting bone is __

-most common genetic variant?

-presentation?

-treatment?

-bone resorption; osteoclasts

-thick and easily breakable

-carbonic anhydrase II mutation that leads to loss of acidic environment needed for bone resorption

-bone fractures, hydrocephalus(narrowing foramen magnum), anemia, thrombocytopenia, and leukopenia with extramedullary hematopoiesis, and RTA

-bone marrow transplant

Classic presentations of a child with rickets?

-rickets is caused by low levels of __, which leads to reabsorption and resorption of __(from what 3 places?)

-pigeon-breast deformity, frontal skull bossing, rachitic rosary, and bowing of the legs

-vitamin D; calcium and phosphate; intestines, kidneys, and bone

2 most common forms of osteoporosis?

-senile and post-menopausal

DEXA scan measures __

-used for diagnosis of?

-bone density

-osteoporosis

What disease is tied to imbalance between osteoblast and osteoclast function?

-what age demographic?

-bone presentation?

-classic histology?

-clinical presentation?

-treatment?

-Paget disease of the bone

-over 60

-thick and sclerotic, which fractures easily

-mosaic/jigsaw pattern of lamellar bone

-bone pain, hearing loss, increasing skull size, lion-like facies

-calcitonin and bisphosphonates

Osteomyelitis is often (viral/bacterial)

-transient bacteremia is mostly seen in (children/adults), and seeds the (metaphysis/epiphysis)

-open-wound bacteremia is mostly seen in (children/adults), and seeds the (metaphysis/epiphysis)

-most common cause?

-bacterial

-children; metaphysis

-adults; epiphysis

-staph aureus

Benign bone tumor that targets the face?

-osteoma

Osteomas are associated with what?

-Gardner syndrome

Benign bone tumor in long bones, that is less than 2cm and resolves with aspirin?

-osteoid osteoma

What bone tumor has a rim of reactive bone?

-osteoid osteoma

Most common benign tumor of bone?

-osteochondroma

A benign bone tumor with an overlying cartilage cap?

What can this overlying cartilage cap rarely transform into?

-osteochondroma

-condrosarcoma

Bone tumor that arises as a lateral projection of the growth plate/metaphysis?

-osteochondroma

Malignant tumor of osteoblasts?

-osteosarcoma

Malignant tumor that arises from the long bones, that results from bone pain/fracture with swelling?

-osteosarcoma

Bone tumor with sunburst appearance and lifting of periosteum?

-osteosarcoma

Biopsy reveals pleomorphic cells that produce osteoid?

-osteosarcoma

Bone tumor that comprises of muntinucleated giant cells and sternal cells?

-giant cell tumor

2 tumors occur in the distal femur/proximal tibia/knee region, osteosarcoma and giant cell tumor, how do you differentiate the two?

-X-ray of osteosarcoma shows a sunburst pattern; X-ray of giant cell tumor shows soap bubble pattern

Bone tumor with onion skin appearance in children less than 15?

-these are derived from?

-Ewing sarcoma

-neuroectoderm

Biopsy of a BONE tumor shows small, round blue cells that resemble lymphocytes?

-translocation?

-Ewing sarcoma

-t(11;22)

Benign cartilage tumor of the small bones in the hands or feet?

Malignant cartilage tumor of the pelvis or central skeleton?

-chondroma

-Chondrosarcoma

Are primary tumors more common than metastatic tumors in the bone?

-NO!; metastatic tumors are more often and have a osteolytic/punched-out lesion

What fluid is release in synovial joints to lubricate the joint?

-hyaluronic acid

What is the hallmark of RA, and how is it described?

-pannus formation; inflamed granulation tissue

Describe rheumatoid factor?

-IgM autoantibody against Fc portion of IgG

What are the seronegative spondyloarthropathies?

-will lab values be positive for RF? For HLA-B27?

-reactive arthritis, ankylosing spondyloarthritis, and psoriatic arthritis

-NO!; YES!

What is the triad for reactive arthritis?

-caused by?

-can’t see, can pee, can’t climb a tree

-GI or chlamydia infection weeks prior

Infectious arthritis occurs weeks after __

-differs from reactive arthritis how?

-gonorrhea(young adults; most common) OR staph infection(older children and adults)

-ONLY arthritis, not the other symptoms

Uric acid comes from the metabolism of?

-purines

Heliotrope rash and Gottron papules are tied to?

-describe?

-lab findings?

-biopsy?

-what if there’s inflammation of ONLY muscle? What is the biopsy here?

-Dermatomyositis

-inflammation of skin and muscles

-ANA, and anti-Jo-1 antibody positive, as well as increased CK

-perimysial inflammation with perifascicular atrophy

-that’s polymyositis; endomysial inflammation with necrotic muscle fibers

Dystrophin defect?

2 types?

-muscular dystrophy

-duchennes and Becker

Myasthenia gravis is associated with __

-thymic hyperplasia or thymomas

Most common benign soft tissue tumor of adults?

Most common malignant soft tissue tumor of adults?

-lipoma

-liposarcoma

Cardiac rhabdomyomas are associated with?

-tuberous sclerosis

Most common malignant soft tissue tumor of children?

-classic labs?

-most common site for these? Most common site in young girls?

-rhabdomyosarcoma

-desmin positive with rhabdomyoblast cells

-head/neck; vagina