BONES-JOINTS-SOFT TISSIE Flashcards by Choco Cone

A baby with HOXD13 mutation would most likely manifest?

a. Patent fontanelles, Wormian bones
b. Short proximal extremities, normal trunk, enlarged head with bulging fontanels -
c. Micromelic shortening of limbs, frontal bossing, relative macroencephaly, small chest cavity, bell-shaped abdomen
d. Shortening of terminal phalanges of thumb and big toe

d. Shortening of terminal phalanges of thumb and big toe - Brachydactyly D and E

How well did you know this?

Not at all

Perfectly

Most lethal form of dwarfism most likely manifest?
a. Patent fontanelles, Wormian bones
b. Short proximal extremities, normal trunk, enlarged head with bulging fontanels
c. Micromelic shortening of limbs, frontal bossing, relative macroencephaly, small
chest cavity, bell-shaped abdomen
d. Shortening of terminal phalanges of thumb and big toe

C. Micromelic shortening of limbs, frontal bossing, relative macroencephaly, small
chest cavity, bell-shaped abdomen

How well did you know this?

Not at all

Perfectly

Most common skeletal dysplasia and major cause of dwarfism most likely manifest?

a. Patent fontanelles, Wormian bones
b. Short proximal extremities, normal trunk, enlarged head with bulging fontanels
c. Micromelic shortening of limbs, frontal bossing, relative macroencephaly, small
chest cavity, bell-shaped abdomen
d. Shortening of terminal phalanges of thumb and big toe

b. Short proximal extremities, normal trunk, enlarged head with bulging fontanels

How well did you know this?

Not at all

Perfectly

Loss of function of RUNX2 gene.

a. Patent fontanelles, Wormian bones

How well did you know this?

Not at all

Perfectly

Blue sclera due to decrease in collagen content, hearing loss due to impeded bone conduction and sensorineural loss and dental imperfection due to deficiency in dentin, will show in what collagen defect?

a. Type I
b. Type II
c. Type III
d. Type IV

A. Type I

How well did you know this?

Not at all

Perfectly

Lethal perinatal, still with blue sclera, intrauterine fracture is compatible with what type of Osteogenesis Imperfecta?

a. Type 1
b. Type 2
c. Type 3
d. Type 4

B. Type II

How well did you know this?

Not at all

Perfectly

Fundamental defect in Osteogenesis Imperfecta.

a. Hearing loss due to impeded bone conduction and sensorineural loss
b. Too little bone resulting in extreme skeletal fragility
c. Dental imperfection due to deficiency in dentin
d. Blue sclera due to decreased collagen content

B. Too little bone resulting in extreme skeletal fragility

How well did you know this?

Not at all

Perfectly

Marble Bone disease and Albers-Shonberg disease.

a. Classic collagen defect -
b. Bones lack medullary canal and the end of long bones are bulbous
c. Single gene, LRP5 gene, defects may caused variations in bone density
and
d. Chalk stick type fracture are frequent complication

b. Bones lack medullary canal and the end of long bones are bulbous

a. Classic collagen defect - OI
c. Single gene, LRP5 gene, defects may caused variations in bone density - Osteopenia
and Osteoporosis
d. Chalk stick type fracture are frequent complication - Paget disease

How well did you know this?

Not at all

Perfectly

Consistent in Paget disease, EXCEPT:

a. Hallmark of Paget disease: Mosaic pattern of lamellar bone seen in sclerotic phase
b. Enlargement of craniofacial skeleton may produce Leontiasis ossea or Lion face
c. 50% of familiar Paget disease have mutation of SQSTM1 gene
d. Vertebral fractures occur more on thoracic and lumbar regions are painful

d. Vertebral fractures occur more on thoracic and lumbar regions are painful -
Osteopenia/porosis

How well did you know this?

Not at all

Perfectly

Hallmark of osteoporosis.

a. Weakened bone may lead to invagination of skull base
b. Normal bone but decreasing quantity
c. Laboratory: Elevated alkaline phosphatase but normal calcium and phosphorus
d. Reflects stone like quality of bones but abnormally brittle and fractures like a chalk

b. Normal bone but decreasing quantity

a. Weakened bone may lead to invagination of skull base - Pagets
c. Laboratory: Elevated alkaline phosphatase but normal calcium and phosphorus -
Pagets
d. Reflects stone like quality of bones but abnormally brittle and fractures like a chalk - Osteopetrosis

How well did you know this?

Not at all

Perfectly

Not true in osteopenia and osteoporosis
a. Hormonal influence due to decreased causing persistent bone resorption and
osteoclast recruitment via cytokines by increasing levels of RANKL gene
b. Impairment of mineralization and results to accumulation of unmineralized matrix
that prone to fracture
c. Treatment: exercise, calcium and vitamin D intake, intake of bisphosphonates that reduce osteoclast activity.
d. It cannot be reliably seen in plain xray. Best seen in dual energy cray or CT scan. Biopsy can also estimate bone loss

B. Impairment of mineralization and results to accumulation of unmineralized matrix

How well did you know this?

Not at all

Perfectly

This is the first genetic disease treated with stem cell transplantation

a. Osteoporosis
b. Osteopenia
c. Osteopetrosis
d. Osteoblastoma

C. Osteopetrosis

How well did you know this?

Not at all

Perfectly

Are manifestation of vitamin D deficiency or its abnormal metabolism except

a. Rickets
b. Osteomalacia
c. Accumulation of unmineralized matrix
d. A traumatic or vertebral compression fracture

d. A traumatic or vertebral compression fracture

How well did you know this?

Not at all

Perfectly

Not a consistent finding

a. In chronic renal insufficiency, there is inadequate 1,25 vitamin D synthesis leading to
decrease absorption of calcium in intestine
b. Hyperthyroidism leads to significant skeletal changes due to unabated osteoclast
activity. It can cause the so-called “Brown Tumor”.
c. Avascular necrosis biopsy usually affects medulla. Contents are not usually affected
due to collateral blood flow. Dead bone is seen as empty lacuna admixed with
necrotic fat cells.
d. Creeping substitution is seen in pyogenic osteomyelitis

d. Creeping substitution is seen in pyogenic osteomyelitis

How well did you know this?

Not at all

Perfectly

Is the result of unchecked hyperparathyroidism, or the overactivity of the parathyroid gland, which results in overproduction of parathyroid hormone (PTH).

a. Brown tumor
b. Osteitis fibrosa cystica
c. Paget’s
d. Osteopenia

B. Osteitis fibrosa cystica

How well did you know this?

Not at all

Perfectly

Estimate time for fracture healing: A combination of hematoma, matrix production and remodeling. This provides anchorage between ends of fractured bones but cannot support weight.

a. 24
b. 48
c. 1 week
d. 2 weeks

d. 2 weeks (2-3 weeks ang soft callus)

Not a consistent association

a. Delayed union or malunion- caused by frequent movement of callus preventing
normal formation.
b. Pseudoarthrosis- a malformed callus degenerates into cyst and the resulting space
can become a false joint. This is common in open fractures.
c. Brodies abscess- small intraosseous abscess that frequently involves the cortex and
is walled off by reactive bone.
D. Sclerosing osteomyelitis of Garre- develops in the hips with extensive new bone
formation

D. Sclerosing osteomyelitis of Garre- develops in the hips with extensive new bone
formation

Subchondral infarcts in avascular necrosis will cause
a. Delayed healing
b. Necrosis
c. Pain
d. fracture

C. Pain

Not a prompt ????? pathogenesis in renal osteodystrophy

a. decreased production of secreted factors- kidney converts vitamin D to its active for,
vitamin D3. Damaged to kidney results to decreased vitamin D3 synthesis resulting
to hypocalcemia and secondary hyperparathyroidism
b. Generalized renal failure leads to reduced phosphate excretion, chronic hyperphosphatemia, hypocalcemia and secondary hyperparathyroidism
c. Estrogenous(??) cause results from fractures or corticosteroid administration
d. Tubular dysfunction- renal tubular acidosis have low pH dissolving bone
hydroxyapatite and c

C. Estrogenous(??) cause results from fractures or corticosteroid administration

Not a finding in TB of bones

a. TB histologic hallmark: coagulative necrosis plus granuloma
b. Tuberculous spondylitis (POTT disease) involving the spine causing destruction of
disc
c. Organism is usually blood borne from active visceral focus
d. Tend to be destructive and resistant to control than pyogenic osteomyelitis

a. TB histologic hallmark: coagulative necrosis plus granuloma

Not a finding in skeletal syphilis

a. Syphilitic Saber Shin is produced by massive reactive periosteal bone deposition on
the MEDIAL and ANTERIOR surfaces of tibia.
b. In acquired syphilis, bone disease begins early in the tertiary stage usually 2-5 years
after initial infection.
c. Histologic hallmark: edematous necrotic tissue with numerous plasma cells
d. Clinical course: 5 to 25% fails to resolve and persist as chronic infection

d. Clinical course: 5 to 25% fails to resolve and persist as chronic infection

Not a characteristic of pyogenic osteomyelitis
a. 80-90% is caused by Staphylococcus aureus
b. Those with sickle cell disease are predisposed to Salmonella.
c. 50% of cases have no organisms isolated.
d. Usually involves the diaphysis because growth plate is not yet closed

d. Usually involves the diaphysis because growth plate is not yet closed

Diagnose: Bony excess with cartilage cap

a. Osteochondroma
b. Osteoid osteoma
c. Chrondoma
d. Chondroblastoma

a. Osteochondroma

Diagnose the case: destroy the medulla and cortex. Foamy cell is mixed with matrix

a. Adamantinoma
b. Chordoma
c. Osteoblastoma
d. Osteosarcoma

B. Chordoma

Diagnose case: Extends from medulla to life periosteum, malignant cells producing woven bone a. Adamantinoma b. Ewing sarcoma c. Osteoblastoma d. Osteosarcoma

D. Osteosarcoma

Not a feature of osteoid osteoma a. Less than 2 cm, young men (teens,20’s) b. Predilection in appendicular skeleton-50% femur or tibia typically arise in the CORTEX. c. Causes SEVERE NOCTURNAL PAIN that is relieved by aspirin or NSAIDS. Pain is caused by prostaglandin E2 produced by proliferating osteoblast. d. There is no marked bony reaction

d. There is no marked bony reaction

4 year old girl came to the emergency room due to pain in the right thigh. After biopsy workup, the work impression is fibrous dysplasia. Has germline history of mazabraud’s syndrome. What clinical question you would ask during the interview of the patient? a. If she has multiple fracture b. If she has intramural myomas c. If her heart has intramuscular myxomas d. If she has multiple bone cyst

c. If her heart has intramuscular myxomas-di ko sure

If the pattern of spread of bone cancer is via the Batson plexus of veins Spread is likely thru a. Direct Extension b. blood c. Intraspinal d. lymphatic

C. Intraspinal

McCune-Albright syndrome: polyostotic disease, associated with endocrine abnormalities, especially precocious puberty and.. a. Multiple soft tissue myomas b. ???? and prolactinemia c. Delayed menopause d. Café-au-lait skin pigmentation

d. Café-au-lait skin pigmentation

Fibrous cortical defect and fibrous dysplasia are unusual developmental abnormalities; the latter is caused by somatic gain of-function mutations in the a. FBD gene b. CAAS gene c. ??? d. GNAS1 gene

d. GNAS1 gene

XRAY shows an expansile, well circumscribed lytic lesion with well-defined margins. Most show central lysis and a thin sclerotic “eggshell” of reactive bone at the periphery. Supporting trabeculae may create a “soap bubble” appearance on plain films and internal septae with air-fluid levels. What is the cause of cystic bone resorption of the disease ANS:

Ans: NF-kB, which in turn up-regulates expression of proteins, such as matrix metalloproteases, that lead to cystic bone resorption

Not a consistent of aneurysmal bone cyst a. Approximately one-third of cases contain an unusual densely calcified, basophilic metaplastic matrix referred to as “blue bone.” b. 70% of cases of ABC, chromosome 17p13 rearrangements. c. Necrosis is common d. The septa are composed of plump spindle cells, multinucleated osteoclast-like giant cells, and reactive woven bone lined by osteoblasts.

c. Necrosis is common

Not a consistent with diagnosis a. Maffuci syndrome: EXT1 or EXT2 gene b. high levels of RANKL tumor : Giant cell tumor c. Homer wright rosettes: Ewing sarcoma d. Dedifferentiated chondrosarcoma: is a low grade. Does not produce cartilage.

a. Maffuci syndrome: EXT1 or EXT2 gene

90% of Ewing sarcomas contain a balanced translocation involving the EWSR1 gene on chromosome 22 • FLI1 gene on chromosome 11, creating an EWSR1/FLI1 fusion gene. Xray will most likely show; a. Moth eaten b. lytic c. Characteristic periosteal reaction: produces layers of reactive bone deposited in an onion-skin fashion. d. All of the above

d. All of the above

This is a rare skeletal disorder characterized by abnormal bone development (skeletal dysplasia). While this disorder may be present at birth, it may not become apparent until early childhood when symptoms such as deformities or improper limb growth are more obvious. a. Marble Bone b. Maffucci syndrome c. Albers - shonberg disease d. None of the above

d. None of the above

X Ray shows bones lack medullary canal and the end of the long bones are bulbous (Erlenmeyer Flask) a. Due to the mutations of carbonic anhydrase gene b. Blue sclera due to Decrease collagen content c. Producing shortening of terminal phalanges d. Most common site is the metaphysis

a. Due to the mutations of carbonic anhydrase gene

Characteristics but not diagnostic of osteosarcoma a. Onion skinning b. Extra calcification c. Codman triangle

C. Codman triangle

Most common form of skeletal malignancy a. Osteosarcoma b. Chondrosarcoma c. Ewing sarcoma d. metastasis

D. Metastasis

Consistent with its features, except a. Aneurysmal bone cyst - “egg shell and soap bubble” b. Giant cell tumor - benign and locally aggressive c. Ewing Sarcoma - Moth eaten d. Osteoblastoma - mark bony eruptions

d. Osteoblastoma - mark bony eruptions