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pszurnicki
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Osteomalacia
osteopenia
osteoporosis
osteopetrosis
- Osteomalacia--defective mineralization due to low Ca
- Osteopenia--low Bone Mineral Density
- Osteoporosis--low bone mass
- Osteopetrosis--defective resorption-fragile bone
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Genetic deficiency of Carbonic Anhydrase is seen in what bone condition?
Osteopetrosis
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What hematological features are seen in Petrosis?
- anemia
- thrombocytopenia
- leukopenia
- extramedullary hematopeoisis
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Erlenmeyer Flak bones that flare out are seen in what condition?
osteopetrosis
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Osteitis Fibrosa Cystica is another term for what?
adenoma of the parathyroid gland producing high PTH, high ALP, high Ca and low PO4
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Which CTD has blue sclera?
dislocated lens?
- Osteogenesis Imperfecta
- Marfans
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What kind of congenital cardiac anomalies are seen in 22 q11
- Truncus arteriosus
- tetrology of fallot
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Down syndrome?
- ASD
- VSD
- AV septal defect
- endocardial cushion defect
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Turner syndrome cardiac defect?
coarctation of aorta
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Diabetic mother congenital cardiac defect?
transposition of great vessels
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what kind of congential cardiac condition is in Marfans?
aortic dissection
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chromosome for marfans?
15
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What condition produces a plucked chicken skin appearance due to fragmentation and mineralization of elastin fibers in skin?
Pseudoxanthoma Elasticum
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Mutation in achondroplasia?
constitutional activation of FGFR3 inhibits chondrocyte proliferation
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HLA- DR4 is associated with what 2 conditions?
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What is the Rheumatoid factor?
IgM ab against the fc portion of the IgG
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Felty syndrome?
RA complication producing agranulocytosis
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RA factor is absent in what version of RA?
Juvenile
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Seronegative arthropahties?
- Psoriasis
- Ankylosing spondylitis
- IBD
- Reiters syndrome
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Symptoms of SLE?
- Immunoglobulins
- Malar rash
- Discoid rash
- Ab to dsDNA, smith
- Mucositis
- Neurological
- Serositis-pleuritis, pericardiatis
- Hematological-anemia, leukopenia, thrombocytopeni
- Arthritis
- Renal
- Photosensitivity
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Cause for infertility in SLE?
anti-phospholipid syndrome
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What antibodies are specific for SLE?
anti-dsDNA antibodies
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What malignancy are Sjogrens pts predisposed to?
B cell lymphoma
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CREST syndrome?
- Calcinosis
- Reynauds phenomenon
- Esophageal Dysmotility
- Sclerodactyly
- Telangiectasia
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How is Polymyositis different from Dermatomyositis?
- Polymyositis and Dermatomyositis both have proximal muscle weakness
- Dermatomyositis has a peliotrope Rash
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Mixed Connective Tissue Disease is what?
combination of SLE, Systemic sclerosis, polymyositis
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What antibodies are seen in Mixed Connective Tissue Disease?
- Anti-Ribonucleotide ab
- Anti-U1 RNP
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What bone is involved in Osteoporosis?
cancellous
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What effect does estrogen have on the RANKL receptors?
high estrogen leads to low RANKL receptor expression
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What paratmeter is raised in Pagets disaese?
Pattern of Bone?
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Complication of Pagets disease?
Osteosarcoma
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Possible etiology of Paget's Disease?
- reaction to paramyxovirus
- RANKL mutation on chromosome 18
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Rx of Pagets disease of bone?
Bisphosphonates
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Osteopetrosis and osteitis Deformans can both present how?
nerve entrapment
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Where is a brown tumor seen?
in osteitis fibrosa cystica--increase resorption is followed by fibroblasts depositing collagen and turning the hemorrhage +necrosis into a brown tumor
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What kind of metastasis does a Lung and kidney cancer do on the bone?
lytic
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What kind of metastasis does prostate cancer do on the bone?
osteoblastic
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WHat kind of cancer does breast cancer do on the bone?
osteoblastic and osteolytic
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How does osteosarcoma look on the x ray?
sunburst and codman triangle from lifting of periosteum
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LM of Ewings sarcoma?
anaplastic small blue round cells
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What kinds of proteins are seen in the urine in MM?
bence-jones proteins
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