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