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100 Cards in this Set

  • Front
  • Back
What bone cells originate from hematopoeitic progenitor cells?
The histological unit of bone is called what?
What mineralizing protein is a specific serum marker for osteoblast activity?
Unmineralized bone matrix is called what?, What type of collagen predominates in this tissue?
osteoid tissue, type 1 collagen
Bone with less organized structure and an absense of haversian systems is called what?
woven bone
When is woven bone seen?
Children, Pathology (post-fracture callus, infections, bone forming tumors)
Where does intramembranous ossification occur?
skull and parts of clavicle
Defects in nuclear proteins and transcription factors cause what type of bone pathologies?
Defects in nhormones and signal transduction mechanisms cause what type of bone pathologies?
Defects in extracellular structural matrix proteins cause what type of bone pathologies?
Failure of the spinal column closure is called what?
Synpolydactyly is associated with what gene mutation and what phenotype?
HOXD-13, Extra digit with fusion
Waardenburg syndrome is associated with what gene mutation and what phenotype?
PAX-3 , Craniofacial abnormalities associated with hearing loss and abnormal pigmentation
What are the complications associated with nail-patella syndrome?
Hypoplastic nails, Hypo/Aplastic patellae, Dislocated radial head, Progressive nephropathy
What are the complications associated with Ulnar-Mammary syndrome?
Hypo/Aplastic Ulna, 3rd and 5th digits, breast, and teeth, Delayed puberty
What genetic defect is characterized by PTHrp receptor mutations and involves short, bowed limbs, clinodactyly, facial abnormalities, hypercalcemia, hypophosphatemia
Jansen Metaphyseal Chondroplasia
What syndrome is associated with craniosynostosis and FGFR2 gene mutation?
Crouzon syndrome
What mutation causes achondroplasia?
FGFR3 on chromosome 4, (arg for gly 375)*
What is change in gene expression is involved in achondroplasia?
constant activation of FGFR3 which inhibits cartilage proliferation
Rhizomelia, normal trunk, and macrocephaly with a depressed root of the nose is associated with what genetic abnormality?
A missense point mutation in FGFR3 with micromelia and respiratory insufficiency is associated with what genetic abnormality?
thanatophoric dwarfism
Hypertrophy of the growth plate with clusters of large chondrocytes is associated with achondroplasia or thanatophoric dwarfism?
Diminished chondrocyte proliferation with normal chondrocyte size is associated with achondroplasia or thanatophoric dwarfism?
thanatophoric dwarfism
Defect in COL2A1 results in what defect?, What is the phenotoype?
achondrogenesis, Short trunk, Severely shortened extremities, Relatively enlarged cranium, Flattened face
Defect in COL1A1 results in what defect?, What is the phenotype?
Osteogenesis Imperfecta, Bone fragility, Hearing loss, Blue Sclera
Mutations of the genes coding for alpha1 and alpha2 chains of collagen molecules cuasuing decreased quantity but normal quality of collagen is associated with what condition?
osteogenesis imperfecta
How is osteogenesis imperfecta inherited?
3 of the four types are autosomal dominant, Type II is autosomal recessive
What type of osteognesis imperfecta is incompatible with life?
Type II
Brittle bones and laxity and subluxation of other tissues are associated with what condition?
osteogenesis imperfecta
Metaphyseal corner fractures are characteristic of what condition?
child abuse
Muchopolysacharoidoses is due to what enzyme deficiency?, What are the clinical manifestations?
lysosomal acid hydrolases, Short stature and skeletal deformities, Course facial features, corneal clouding, mental retardation, organ involvement
What is the most definitive test in differentiating between child abuse and osteogenesis imperfecta?
Gel electrophoresis for analysis of collagen production
Morquio syndrome is an example of what kind of disease?
Muchopolysacharoidosis, Lysosomal storage disease
Deficiency of carbonic anhydrase II or mutation in the CIC-7 chloride channel gene results in what bone pathology?
What types of bone cells are dysfunctional in osteopetrosis?
What are the major effects of obliteration of the medullary cavities associated with osteopetrosis?
repeated infections, hepatosplenomegaly
Bulbous long bones (Erlenmeyer flask deformity), repeated infections, hepatosplenomegaly, nerve compression and frequent fracture may lead to what diagnosis?
What are the 3 types of osteopetrosis?
Infantile malignant osteopetrosis (autosomal recessive), Carbonic anhydrase, Autosomal dominant type I and II (detected at puberty)
How is osteopetrosis treated?
bone marrow transplants (sometimes effective)
What are the primary causes of osteoporosis?
postmenopause, aging
What are the important secondary causes of osteoporosis?
endocrine disorders, Neoplasia, Gastrointestinal disorders, Rheumatologic disease, Drugs, Immobilization
What categories of drugs contribute to osteoporosis?
Anticoagulants, Chemotherapy, Corticosteroids, Anticonvulsants, Alcohol
What is the major difference in the mechanism of osteoporosis associated with aging opposed to Menopausal osteoporosis?
senile-low bone turn over (decreased osteoblasts), postmenopausal-high bone turn over (increased osteoclasts)
Why is early diagnosis of osteoporosis difficult?
Often assymptomatic, X-ray unreliable until 30-40% bone loss
If osteoporosis is suspected with normal x-rays, what tests can be done?
DEXA scan, Quantitative CT scan
How is osteoporosis best prevented?
Exercise, Estrogen replacement, Bisphosphonates, Recombinanant parathyroid hormone
What are the possible serious complications of osteoporosis?
Femoral neck fracture, pulmonary embolism, fracture
What disease is associated with a mosaic pattern of lamellar bone or woven bone?
Paget's disease
What virus may be linked to the etiology of Paget's disease?
What are the 3 stages of pathogenesis of Paget's disease?
Initial osteolytic stage, Mixed osteoclastic-osteoblastic stage, Osteosclerotic stage
Paget's disease is often associated with increased levels of what enzyme?
alkaline phosphatase
How will x-rays of Paget's disease differ from osteopetrosis?
Both hypertrophic and hypotrophic bone will be seen
What are some of the major complications associated with Paget's disease?
Pain from bone fragility and nerve compression, Secondary osteoarthritis , Tumor transformation (benign: giant cell tumor, malignant osteosarcoma), High output heart failure
Mild symptoms of Paget's disease are usually suppressed by what treatment?
Calcitonin & bisphosphonates
What are the two main roles of Vitamin D?
enahance absorbtion of Ca and increase mineralization
Deficiency in vitamin D will lead to an increase or decrease in osteoid tissue?
Decreased calcium in the serum will have what effect on the parathyroid gland?
Increased PTH secretion
What effect does parathyroid hormone have on calcium and phosphorous?
Increased calcium resorbtion from bone, Increased excretion of phosphorous
What are the clinical manifestations of rickets?
Craniotabes, Delayed fonatelle closure, Rachitic rosary, Harrison's groove , Pigeon chest , Bowing of legs
Vitamin D deficiency in adults leads to what disease?
Persistent failure of bone mineralization in adults leading to loss of skeletal mass is called what?
Primary hyperparathyroidism results form what?
Autonomous hyperplasia, Tumor
Osteomalacia due to chronic renal failure is called what?
renal osteodystrophy
The severe form of hyperparathyroidism affecting the bones is called what?
osteitis fibrosa cystica
The increased osteoclast activity in hyperparathyroidism affects what kind of bone most?
cortical bone (more than cancelous bone)
An X-ray showing radiolucency along the radial aspect of the index and middle fingers is most commonly associated with what disease?
osteitis fibrosa cystica
What are the major skeletal changes that occur due to chronic renal failure?
Increased osteoclastic bone resorption , Osteomalacia, Osteoporosis, Growth retardation
What are the 3 major elements of the pathogenesis of renal osteodystrophy?
Decreased Renal alpha hydroxylase leads to hypocalcemia and bone resorption, Hyperphosphataemia leading to secondary hyperparathyroidism, Metabolic acidosis leading to bone resorption
How does dialysis of renal failure patients contribute to osteomalacia?
iron and aluminum deposit in the bone matrix
What are the histopathological hallmarks of osteitis fibrosa cystica?
Dissecting osteitis (Railroad track appearance), Brown tumor
What are the three phases of bone healing?
Inflammatory phase, Reparative phase, Remodeling phase
The procallus and bony callus formation of bone healing happens in what phase of bone healing?
Reparative phase
What kind of bone is present at the site of a fracture at the start of the remodeling phase of bone healing?
Woven bone (formed at the end of the reparative phase)
What are some of the common causes of osteonecrosis?
Idiopathic, Congenital (Gaucher Disease), Traumatic, Corticosteroid therapy, Infections, Sickle cell and other anemias, Thrombosis/Embolism (dysbarism, pregnancy, pancreatitis), Connective tissue disorders, Increased intraosseus pressure
Osteonecrosis of the head of the second metatarsal is called what?
Fibrous tissue and reactive bone deposited surounding a sequestrated piece of bone is called what?
What is the most common route of infection in Pott's disease?
hematogenous from lungs
Massive destruction involving the vertebra and vertebral disc is most likely infection or tumor?
A subacute osteomyelitis, which may persist for years before converting to a frank osteomyelitis is called what?
Brodie's abscess
A cold fluctuant psoas abscess may be due to what disease?
What causes syphilis?
Treponema Pallidum, Treponema Pertenue
Tibias affected by skeletal syphylis are called what?
saber shin
Spirochetes stain with what kind of stain?
silver stain
What is the major benign tumor of bone of unknown origin?
Giant cell
What are the most frequently occuring primary malignant tumors?
What common metastatic tumor is primarily osteoblastic?
What common metastatic tumors are primarily osteolytic?
kidney, liver, thyroid gland
Are breast tumors primarily osteoblastic or osteolytic?
What is the most common benign tumor (hamartoma) of the bone?
Osteochondroma arises most often at what sites?
metaphysis of long bones particularly lower end of femur & upper end of tibia
Multiple osteochondroma (exostosis) may be an indication of what condition?
familial osteochondromatosis
A 20-40 year old woman with swelling close to the knee joint with a bubble soap appearance on x-ray probably has what condition?
Giant Cell Tumor (Osteoclastoma)
A 10-25 year old male with nocturnal pain sensitive to aspirin with a growth on the femur or tibia most likely has what type of neoplasm?
osteoid osteoma
A benign tumor larger than 2 cm with a central nidus that usually affects irregular bone like the lumbar spine is probably what?
Intramedullary, multilobular, lytic lesion s with flexes of calcification in the hands and feat are most likely what type of growth?
A 10-20 year old male with swelling around the knee joint with lifted periostium and Codman's triangle and a sunburst appearance on x-ray most likely has what neoplasm?
What diseases may lead to osteosarcoma?
Paget's disease, Familial Retinoblastoma
A 30-60 year old man with swelling around a central skeletal bone with x-rays showing periostial erosion but no sunburst pattern on x-ray is most likely what malignant neoplasm?
A clear cell variant of chondrosarcoma affects what parts of what bones?
Epiphysis of long bones
A boy under 15 years old with a tumor of a long bone or flat bone of the pelvis with an onion skin appearance on x-ray and small blue cells on histological preparation most likely has what condition?
Ewings Sarcoma