What is the most common cause of death related to sickle cell disease - - infection
Results when individual inherits two copies of Hb S in sickle cell disease - - sickle cell anemia
Blood disorder that reduces the production of hemoglobin - - beta thalassemia
Alpha and beta thalassemia ...
Duchenne muscular dystrophy is a mutation in the gene that encodes ______________ - ✔✔✔ -
dystrophin
Gower sign - difficulty from getting up from the ground, large calves are a clinical manifestation of what
disease? - ✔✔✔ - Duchenne muscular dystrophy
Treatment of duchenne muscular dystrophy - ✔✔✔ - no cure - but can be treated with steroids
This form of muscular dystrophy is caused by deletion of chromosome 4 - ✔✔✔ - facioscaphulohumeral
muscular dystrophy
Scapular winging, weakness of face or shoulder is a common manifestation of what? - ✔✔✔ -
facioscapulohumeral muscular dystrophy
This form of muscular dystrophy is a mutation in either DMPK gene or CNBP gene - ✔✔✔ - myotonic
muscular dystrophy
Hallmark symptom of myotonic muscular dystrophy is what - ✔✔✔ - myotonia
The most common malignant bone tumor in children - ✔✔✔ - Osteosarcoma
Osteosarcoma is linked to deletion of genetic material on what chromosome - ✔✔✔ - deletion of genetic
material on the long arm of chromosome 13
__________ Accounts for 60% of all malignant bone tumors (ages usually 10-18) - ✔✔✔ - osteosarcoma
, Most telling symptom in osteosarcoma is _________ - ✔✔✔ - NIGHT PAIN
Malignant round cell tumor of bone and soft tissue is the second most common and MOST LETHAL
malignant bone tumor that occurs during childhood - ✔✔✔ - Ewing sarcoma
Ewing sarcoma metastasizes where? - ✔✔✔ - almost every organ
Evaluation/diagnosis of Ewing sarcoma involves levels of what - ✔✔✔ - LDH (lactate dehydrogenase) and
sedimentation rate (increased levels)
Fracture that affects entire bone - bone is now in 2 pieces - ✔✔✔ - complete fractrue
Fracture where the bone is damaged but still in one peice - ✔✔✔ - incomplete fracture
This fracture perforates the outer surface, but the inner surface is inaffected - ✔✔✔ - greenstick fracture
Greenstick fractures usually affect what specific bones - ✔✔✔ - ulna, radius, tibia
A fracture that occurs due to a preexisting abnormality - results from a force that normally would not
fracture a bone - ✔✔✔ - pathologic fracture
Think osteoporosis in elderly and hip frx
Fracture that results in multiple bone fragments - ✔✔✔ - comminuted
Fracture defined as a separation of cartilaginous joint surface (articular cartilage) from main shaft or bone-
most common in adolescents - ✔✔✔ - trasnchondral fracture
Fracture wedged or squeezed together on one side of bone - ✔✔✔ - compression fracture
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