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41 Cards in this Set

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  • Back
mutation of fibroblast growth factor receptor 3
What happens with the mutation of FGFR3?
results in the reduction of the proliferation of chondrocytes on growth plate
Morphology of Achondroplasia?
zones of proliferation and hypertrophy are narrowed and disorganized and contain clusters of large chondrocytes instead of well-formed columns
Osteogenesis Imperfecta?
deficiency in synthesis of type 1 collagen
deficiency in synthesis of type 1 collagen?
incorporation of defective alpha2 chains that cause instability and degradation of the triple helix
Osteogenesis Imperfecta Type II
fatal in utero or during the perinatal period...fetus is still within the womb
Findings for Osteogeness Imperfecta?
extreme skeletal sclerae caused by a decrease in collagen content, exposing the coridal veins...hearing loss related to both a sensorineural deficit and impeded conduction owing to abnormalities in the bones of the middle and inner imperfections due to a deficiency of dentin...
caused by deficiencies in the enzymes
Deficient enzymes in Mucopolysaccharidoses
that degrade dermatan sulfate, heparan sulfate, and keratan sulfate
abnormalities in hyaline cartilage
Signs of Mucopolysaccharidoses
patients are frequently of short stature and have chest wall abnormalities and malformed bones
Hunter's syndrome
associated with increased tissue stores and excretion of dermatan sulfate and heparan sulfate
Senile Osteoporosis
continuous loss of bone at both the trabecular and cortical layers, which become thinner by internal resorption
Steroid-induced Osteoporosis
catabolic effect of corticosteroids may affect trabecular bone, producing a decrease in bone formation
Effects of Steroids on Caclium absorption
steroids also decrease intestinal absorption and renal resorption of calcium, so that less calcium reaches the bone
Post-menopausal osteoporosis
most common after the fifth decade of life...decreased remodeling and decreased amount of bone deposited by osteoblasts...b/c lack of estrogen
Immobilization osteoporosis
confinement of bed results in a loss of 30% of initial bone volume...lack of exercise seems to be the cause...
anorexia nervosa and osteoporosis
anorexia nervosa leads to osteoporosis in women b/c of loss of menstrual period...
reduction in bone mass with normal bone mineralization
Marble bone disease, Albers-Schonberg disease
osteoclast dysfunction...stonelike quality of the bones; however, the bones are abnormally brittle and fracture like a piece of chalk
Osteopetrosis xray findings
Erlenmeyer flask
Deficiency seen in Osteopetrosis
carbonic anhydrase II deficiency
Morphology of Osteopetrosis
osteoclasts lack the usual ruffled borders and show decreased functioning
Clinical features of Osteopetrosis
fractures, anemia, hydrocephaly are often seen...
Paget Disease (Osteitis Deformans)
haphazard arrangement of cement lines
Paget Disease (Osteitis Deformans)
can often lead to bell's palsy if impinging on the CN VII
Paget Disease (Osteitis Deformans)
predilection for the skull, pelvis, tibia, and femur
Paget Disease (Osteitis Deformans) Lab findings
serum alkaline phosphatase level is markedly elevated/increased levels of urinary hydroxyproline...
X ray findings ofr Pagets
bone lysis and reformation are characteristic...
Pathology of Pagets
"mosaic" pattern of termed b/c of cement like material forms narrow boundaries
Cancer associated with Pagets Disease
often associated with Osteosarcoma
Treatment for Pagets
administration of calcitonin, which decreases the resorption
Signs and Symptoms of Pagets
bone pain, fractures, and deformities...deafness when skull is affected...height distortion due to vertebral compression
Osteonecrosis (AvascularNecrosis)Differential Diagnosis
1) mechanical vascular interruption (fracture)
2) corticosteroids
3)thrombosis and embolism (nitrogen bubbles in dysbarism)4) vessel injury (vasculitis, radiation therapy)5) increased intraosseous pressure with vascular compression
6) venous hypertension
Osteonecrosis course
chronic pain that is initially associated only with activity but then becomes progressively more constant until finally it is present at rest
MCC bilateral segmental osteonecrosis or avascular necrosis (AVN) of the femoral head
systemic steroid therapy
inflammation of the medullary and cortical portions of bone, including the periosteum
Osteomyelitis bones affected, child vs adult
children, the long bones are most often affected; in adults, the vertebrae
Osteomyelitis Pathogenesis
1) Most commonly, the hematogenous spread of bacteria from a distant focus of sepsis
2) Invasion of bone from adjacent septic arthritis or soft tissue abscesses
3) Penetrating trauma
4) Complication of fractures
5) Complications of surgery
Osteomyelitis increased risk
pts with sickle cell disease, hemodialysis patients, patients with bone or joint prostheses, and intravenous drug abusers
Pyogenic Osteomyelitis caused by
Staphylococcus aureus is responsible for 80% to 90% of the cases