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Flashcards in Musculoskeletal System Deck (79):
1

Muscle atrophy that is characterized histologically by angular atrophy, primarily of type II fibers.

Disuse atrophy

2

The most common and most severe of the muscular dystrophies.

Duchenne muscular dystrophy

3

This condition begins with weakness in the proximal muscles of the extremities, commencing at about 1 year of age and progressing to immobilization, wasting, muscle contracture, and death in the early teens.

Duchenne muscular dystrophy

4

Most common cause of death in Duchenne muscular dystrophy

Pneumonia

Due to weakness of the respiratory muscles

5

Duchenne muscular dystrophy is caused by deficiency of what gene

Dystrophin


With frameshift mutation

6

Mode of inheritance of Duchenne

X-linked

7

Presents initially ad proximal muscle weakness of the extremities, and characterized later by compensatory hypertrophy of distal sites, such as the calf muscles, followed eventually by pseudohypertrophy

Duchenne muscular dystrophy

pseudohypertrophy (increased fibrous tissue and adipose tissue)

8

Less severe form of muscle dystrophy

Becker muscular dystrophy

9

Caused by an abnormality in dystrophin; the molecule is truncated and presumably less functional; caused by segmental deletions within the gene that DO NOT cause a coding frameshift.

Becker muscular dystrophy

10

Mode of inheritance of fascioscapulohumeral muscular dystrophy

Autosomal dominant

11

Mode of inheritance of limb-girdle dystrophy

Autosomal recessive

12

Muscle dystrophy that involves the proximal muscles of the shoulder, pelvic girdle, or both

Limb-girdle dystrophy

13

Mode of inheritance of myotonic dystrophy

Autosomal dominant

14

Muscle dystrophy associated with cataracts, as well as testicular atrophy and baldness in men.

Myotonic dystrophy

15

Disorder caused by an increased number of trinucleotide repeats (CTG) in the myotonin protein kinase gene.

Myotonic dystrophy


Normal individuals - less than 30 CTG repeats
Patients with myotonic dystrophy can have from 50 to 1,000 repeats

16

A loss of mitochondria and other organelles in the central portion of type I muscle fibers.

Central core disease


This disease is characterized by muscle weakness and hypotonia, but affected infants eventually become ambulatory.

17

This disease demonstrates tangles of small rod-shaped granules, predominantly in type I fibers.

Nemaline myopathy


It varies clinically from a mild, nonprogressive disease to severe weakness ending in death from respiratory failure.

18

This disease may be characterized by a ragged red appearance of muscle fibers and by various mitochondrial enzyme or coenzyme defects.

Mitochondrial myopathies

19

Characterized by ophthalmoplegia, pigmentary retinopathy, heart block, cerebellar ataxia, and an exclusively maternal mode of transmission.

Kearns-Sayre syndrome

20

Lambert-Eatin syndrome is a paraneoplastic of

Small cell lung CA


Caused by defect in the release of Ach by nerve cells

21

von Recklinghausen disease of bone

osteitis fibrosa cystica

22

Cause of von Recklinghausen disease of bone (osteitis fibrosa cystica)

Primary or secondary hyperparathyroidism

23

Characterized by widespread osteolytic lesions, and may manifest as “brown tumor” of bone, cystic spaces that are lined by multinucleated osteoclasts and filled with vascular fibrous stroma, often with brown discoloration resulting from hemorrhage

von Recklinghausen disease of bone (osteitis fibrosa cystica)

24

Osteomalacia secondary to renal disease

renal osteodystrophy

25

Thinning and softening of occipital and parietal bones? Seen in?

Craniotabes; osteomalacia

26

Thickening of the costochondral junctions that results in a string of-beads–like appearance? Seen in?

Rachitic rosary; osteomalacia

27

A depression along the line of insertion of the diaphragm into the rib cage? Seen in?

Harrison groove; osteomalacia

28

Osteitis deformans

Paget disease of bone

29

Abnormal bone architecture caused by increases in both osteoblastic and osteoclastic activity (mosaic pattern) is characteristic of this bone disease.

Paget disease of bone (osteitis deformans)

30

Clinical manifestations of this bone disease may include a marked increase in serum alkaline phosphatase and normal serum calcium and phosphorus.

Paget disease of bone (osteitis deformans)

31

Osteosarcoma in elderly is associated with

Paget disease of bone (osteitis deformans)

32

Impaired osteoid matrix formation caused by the failure of the proline and lysine hydroxylation required for collagen synthesis.

Scurvy

33

Achondroplasia is caused by mutation in what gene?

FGFR3

34

Short limbs with a normal-sized head and trunk are characteristics of this condition.

Achondroplasia

35

Polyostotic fibrous dysplasia, precocious puberty, café-au-lait spots on skin, and short stature, occurring in very young girls.

McCune-Albright syndrome

36

McCune-Albright syndrome is caused by mutation in what gene?

GNAS1

37

Avascular necrosis in the head of the femur

Legg-Calvé-Perthes disease

38

Avascular necrosis in the tibial tubercle

Osgood-Schlatter disease

39

Avascular necrosis in the navicular bone

Köhler bone disease

40

2 other names of Osteopetrosis

marble bone disease, Albers-Schönberg disease

41

This disorder is characterized by greatly increased density of the skeleton caused by failure of osteoclastic activity.

Osteopetrosis (marble bone disease, Albers-Schönberg disease)

42

Associated with multiple fractures; anemia, blindness, deafness, and cranial nerve involvement

Osteopetrosis

anemia as a result of decreased marrow space, and with blindness, deafness, and cranial nerve involvement because of narrowing and impingement of neural foramina.

43

Most common organism causung pyogenic osteomyelitis

Staphylococcus aureus


Group B strep; E. coli in newbons

44

Most common etiologic cause of pyogenic osteomyelitis associated with sickle cell anemia

Salmonella

45

Most common etiologic cause of pyogenic osteomyelitis in IV drug users

Pseudomonas aeruginosa

46

This group of disorders is characterized by Birbeck granules, tennis racket shaped cytoplasmic structures, which are characteristic markers of the cells

Langerhans cell histiocytosis


by proliferation of histiocytic cells that closely resemble the Langerhans cells of the epidermis

47

Acute disseminated Langerhans cell histiocytosis which is an aggressive, usually fatal, disorder of infants and small children

Letterer-Siwe disease

48

Chronic progressive histiocytos that include the classic triad of skull lesions, diabetes insipidus, and exophthalmos caused by involvement of the orbit.

Hand-Schüller-Christian disease

better prognosis than Letterer-Siwe disease

49

Best prognosis among the langerhans cell histiocytosis

Eosiniphilic granuloma

50

The most common benign tumor of bone.

Osteochondroma (exostosis)

51

A rare hereditary variant of osteochondroma that more frequently undergo malignant transformation to chondrosarcoma

Multiple familial osteochondromatosis

52

This bone tumor is characterized by monotonous oval- or spindle-shaped cells intermingled with numerous multinucleate giant cells.

Giant cell tumor

53

Most common location of Giant cell tumor of the bone

Knee

54

This is the most common primary malignant tumor of bone.

Osteosarcoma

55

Preferred sites of osteosarcoma

Proximal portion of the tibia and most distal portion of the femur (around the knee)

56

Lifting of the periosteum by the expanding tumor, which creates a characteristic radiologic appearance known as the Codman triangle. Another radiologic sign of this tumor is a spiculated “sunburst” pattern of growth

Osteosarcoma

57

Malignant tumor outside the bone that is considered as a predisposing factor of osteosarcoma

Familial retinoblastoma

(in these patients, surgical cure of the primary ocular tumor is often followed by the later development of osteosarcoma)

58

This is a malignant cartilaginous tumor.

Chondrosarcoma

59

This extremely anaplastic “small blue cell” malignant tumor has a morphologic resemblance to malignant lymphoma.

Ewing sarcoma


Indiatinguishable from PNET
Younger than 15 years old
Extremely malignant course with early metastases

60

Aside from rheumatoid factor, what is the other marker of RA?

Anticycluc citrullinated peptide antibodies (anti-CCP)

61

Rheumatoid arthritis occurs in what HLA-positive individuals?

HLA-DR4

62

Fequent sites of RA

Proximal interphalangeal and metacarpophalangeal joints

63

Splenomegaly, neutropenia, and rheumatoid arthritis

Felty syndrome

64

Juvenile rheumatoid arthritis often preceded or accompanied by generalized lymphadenopathy and hepatosplenomegaly and an acute onset marked by fever

Still disease

65

Ankylosing spondylitis is associated with what HLA?

HLA-B27

66

Urethritis, conjunctivitis, and arthritis that is often associated with venereal or intestinal infection

Reiter syndrome

67

Polished, ivory-like appearance of bone, resulting from erosion of overlying cartilage seen in OA

Eburnation

68

Osteophytes at the distal interphalangeal joints of the fingers

Heberden nodes

69

Osteophytes at the proximal interphalangeal joints of the fingers

Bouchard nodes

70

Crystals are needle-shaped and negatively birefringent

Gout

71

Crystal deposited in pseudogout or chondrocalcinosis?

Calcium pyrophosphate dihydrate crystals

72

The crystals are rhomboid in shape and are positively birefringent under polarized light

Pseudogout or chondrocalcinosis

73

The most common form of bacterial arthritis.

Gonococcal arthritis

74

Most frequent site of gonococcal arthritis

Knee

75

The cause of this disease is an infection with the spirochete Borrelia burgdorferi; characterized by a skin lesion, erythema chronicum migrans, which is a slowly spreading lesion with prominent erythematous margins and central fading (“bull’s-eye” lesion).

Lyme disease


Leads to polyarticulara arthritis (unlike gonococcal which is monoarticular)

76

This malignant tumor of skeletal muscle is the most common soft tissue sarcoma ofchildren.

Rhabdomyosarcoma

77

A malignant tumor of fibroblasts characterized by spindle-shaped cells demonstrating a herringbone pattern.

Fibrosarcoma

78

Tthe most common soft tissue tumor.

Lipoma

79

A malignant tumor of adipose tissue.

Liposarcoma