Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Neville and Damm > Ch 17 Systemic Diseases 1 > Flashcards

Ch 17 Systemic Diseases 1 Flashcards

1
Q

What is the typical inheritance pattern for mucopolysaccharidoses?

A

AR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Mucopolysaccharidoses are defined as the lack of the enzyme needed to process which substances?

A

glycosaminoglycans (heparin sulfate, dermatin sulfate, keratin sulfate, chondriotin sulfate)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Most types of muccopolysaccharidosis are associated with what manifestation?

A

intellectual disability

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What facial and joint changes are common in muccopolysaccharidosis?

A

Facial: heavy brow ridges, joint: stiff joints

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What eye changes are often associated with muccopolysaccharidosis?

A

cloudy degeneration of the corneas

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What are the 4 oral manifestations of muccopolysaccharidosis?

A

1.macroglossia 2.gingival hyperplasia (assoc w mouth breathing) 3.thin enamel/pointed cusps on posterior teeth (type IVA) 4.impacted teeth w follicular spaces

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

muccopolysaccharidosis dental radiograph: Multiple impacted teeth that are congregated in a single large follicle, forming a _______ pattern

A

rosette

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What type of test is performed to measure the amount of GAGs in a patient with muccopolysaccharidosis? What two cell types will show deficencies in specific enzymes?

A

urine…leukocytes and fibroblasts

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

While there is no specific treatment for muccopolysaccharidosis, what are 2 options?

A
  1. hematapoetic stem cell transplant 2.Enzyme replacement therapy (types I,II,VI)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Fun fact: What is the most expensive prescription medication?

A

idursulfase ($657,000/year) - recombinant enzyme therapy for muccopolysaccharidosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What are the 3 types of lipid reticuloendothelioses? What is the inheritance pattern? What heritage is most commonly associated with these?

A
  1. Gaucher disease 2. Niemann-Pick disease 3.Tay-Sachs disease…All are AR….Ashkenazi Jewish heritage
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is the most common reticuloendotheliosis disease?

A

Gaucher disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Of the 3 types of Gaucher disease which is seen primarily in the Ashkenazi Jewish population?

A

type 1 (nonneuronopathic) = Ashkenazi….vs types 2 and 3 (neuronopathic) have a panethnic distribution.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Gaucher disease accumulates _________ in what cel type?

A

Lack of glucocerebrosidase → accumulation of glucosylceramide…lysosomes of macrophages/monocytes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Niemann-Pick disease accumulates _________ in what cel type?

A

lack of acid sphingomyelinase → accumulation of sphingomyelin within lysosomes of macros

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Tay-Sachs disease accumulates _________ in what cel type?

A

Lack of beta-hexosaminidase A –>accumulation of ganglioside primarily within lysosomes of neurons

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What is the characteristic feature of the femur in Gaucher disease patients?

A

“Erlenmeyer flask” deformities of the long bones esp the femur

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Gaucher Disease: Which two organs show visceral enlargment due to accumulations of macrophages?

A

spleen and liver

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What are the 3 oral manifestations of Gaucher Disease?

A

1.ill-defined RLs in mandible (thinning of cortical bone, no devitalization to teeth) 2. obliteration of the walls of the mandibular canal 3. decreased salivary flow (may not be significant)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Which 2 types of Niemann-Pick have neuronopathic features?

A

Types A and C (psychomotor impairment, dementia, spasticity, and hepatosplenomegaly, with death occurring during the first or second decade of life)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Which type of Niemann-Pick has visceral signs? What are the 3 organs affected?

A

Type B, hepatosplenomegaly and pulmonary (survive into adulthood)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Which reticuloendotheliosis has a wide clinical range because the condition is genetically heterogeneous? (some mild cases and some with death in 3-5 years)

A

Tay-Sachs Disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Gaucher disease histology: what cells are present on biopsy of the RL mandibular lesions? What is the histologic buzz term for their cytoplasm?

A

Gaucher cells: lipid-engorged macrophages with abundant bluish cytoplasm resembling “wrinkled silk”

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What is the characteristic cell of Niemann-Pick on histology of a bone marrow aspirate?

A

“sea blue” histiocyte

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Which types of Gaucher disease have minimal response to replacement therapy?

A

types 2 and 3 (meds cannot cross blood-brain barrier)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

What are adults with Gaucher disease at an increased risk of develping?

A

hematologic malignancies (lymphoma and multiple myeloma)

27
Q

What condition is characterized by the deposition of waxy material in the dermis and submucosal connective tissue of affected patients?

A

lipoid proteinosis

28
Q

What is the genetic mutation responsible for lipoid proteinosis?

A

ECM1 (extracellular matrix protein 1)

29
Q

What is the genetic mutation responsible for Niemann-Pick Type C?

A

NPC-1 or NPC-2

30
Q

What sites initially affected by lipoid proteinosis? What, then, are the first signs?

A

laryngeal mucosa/vocal cords, so hoarse cry at infancy or something like it

31
Q

What two areas of the face are most frequently affected by lipoid proteinosis? Describe their color…

A

lips and margins of eyelids…start as yellowish, but can begin as dark-crusted vesicles that heal as atrophic hyperpigmented patches

32
Q

What osseous changes have been noted in lipoid proteinosis? (what specific bones involved?)

A

symmetrical intracranial calcifications of the medial temporal bones

33
Q

When do the oral manifestations of lipoid proteinosis occur? Where do they most often occur?

A

second decade of life..tongue, labial mucosa, buccal mucosa, tongue

34
Q

What two effects can lipoid proteinosis have on the tongue?

A

cause smooth tongue and can bind it to the FOM

35
Q

What can you stain lipoid proteinosis with? What is the suspected origin of the characteristic excess material seen on histology?

A

PAS (NOT digested by distase)…basment membrane origin (type IV collagen, type V and laminin)

36
Q

What is the alternate name for Jaundice?

A

Icterus (Jaune = yellow in French), icterus = yellow bird in Latin that could cure jaundice just by looking at it

37
Q

What are two jaundice causing conditions that result from too rapid of RBC breakdown?

A

autoimmune hemolytic anemia or sickle cell anemia

38
Q

What is the name of the inherited syndrome that is characterized by the lack of enzymes to conjugate bilirubin and thus resulting in jaundice?

A

Gilbert syndrome

39
Q

What two ORAL sites typically show the yellow color of jaundice more often due to the high content of elastin (which attracts bilirubin)?

A
  1. Lingual frenum 2. Soft palate
40
Q

What condition can be confused with jaundice due to the yellow coloration in the skin? What is the main way to differentiate? (Think site involved)

A

hypercarotenemia (excess ingestion of carotine - vit A precursor in yellow fruits and veggies)…hypercarotenimia is NOT seen in the sclera of the eye like jaundice is

41
Q

What type of light helps conjugate bilirubin and thus help clear newborns with jaundice more quickly?

A

blue light

42
Q

What are the 3 types of Amyloid proteins that cause amyloidosis?

A
  1. AL (amyloid light chain immunoglobulin) 2. AA (acute-phase reactant protein)
  2. beta 2 microglobulin
43
Q

Although the specific protein causing amyloidosis can vary, what larger molecular stucture do they all make?

A

beta-pleated sheets

44
Q

What are two general body systems that when affected by amyloidosis can fail and cause death?

A

cardiac and renal

45
Q

What hematologic malignancy is associated with amyloidosis?

A

multiple myeloma

46
Q

MOST of the organ-limited forms of amyloidosis consist of aggregates of ___________, which in some cases are produced by a focal collection of ____________

A

immunoglobulin light chains…..monoclonal plasma cells

47
Q

What is the average age of primary/myeloma-associated amyloidosis? Gender predilection? Which type of amyloid is depositied?

A

65 years…slight male…caused by light chain (AL)

48
Q

What is a very common area for a skin lesion of amyloidosis to appear?

A

eyelid (smooth-surfaced, firm, waxy papules and plaques)

49
Q

What % range of patients with primary/myeloma-associated amyloidosis present with macroglossia?

A

10-40%

50
Q

What are 3 chronic inflammatory conditions that can cause amyloidosis? What is the term for this classification of amyloidosis?

A

Secondary Amyloidosis: 1. osteomyelitis 2. tuberculosis 3. sarcoidosis

51
Q

What type of protein accumulates in secondary amyloidosis?

A

AA (acute-phase reactant protein)

52
Q

Which organ is typically spared in secondary amyloidosis? Which 4 organs are effected?

A

heart is not 1. Liver 2. Kidney 3. Spleen 4. Adrenal

53
Q

What are the 4 categories of systemic amyloidosis?

A
  1. primary / myeloma associated 2. secondary 3.Hemodialysis-associated 4.Heredofamilial
54
Q

What is the type of protein accumulates in hemodialysis-associated amyloidosis?

A

AB2M (Beta2-microglobulin)

55
Q

What are two common, painful sequelae for hemodialysis-associated amyloidosis patients?

A
  1. Carpal tunnel 2. cervical spine pain / dysfunction
56
Q

What are the 3 most common populations affected by heredofamilial amyloidosis? How are most of them inherited?

A
  1. Swedish 2. Portuguese 3.Japanese AD inheritance
57
Q

What is the term for the AR form of heredofamilial amyloidosis that is associated with polyneuropathies, cardiomyopathy, cardiac arrhythmias, congestive heart failure, and renal failure?

A

Familial Mediterranean Fever

58
Q

What is the classic anatomoical site to biopsy for the diagnosis of primary or myeloma-associated amyloidosis? What two oral tissues can also be used?

A

Rectum (80% sensitivity)…Gingiva (low sensitvity) or labial salivary glands (80% sensitivity)

59
Q

While congo red is the gold standard for diagnosing amyloidosis, what are the 2 other stains that can be used?

A
  1. crystal violet (metachromatic reddish color on amyloid) 2. thioflavine T (fluorescent)
60
Q

What is the first lab test for a pt with biopsy proven amyloidosis?

A

serum immunoelectrophoresis (determine monoclonal gammopathy to r/o multiple myeloma)

61
Q

What are the three medications used to treat primary (AL) amyloidosis patients that DO NOT have cardiac or renal involvment?

A
  1. Colchicine 2. Prednisone 3. Melphalan
62
Q

What is average survival time for patients diagnosed with amyloidosis? Which organs are to blame?

A

months to a few years - cardiac failure/arrhythimia or renal disease

63
Q

Alternate name for lipoid proteinosis

A

Urbach-Wiethe syndrome

Hyalinosis cutis et mucosae

64
Q
A

Neville and Damm (72 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions