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Org Path Exam 2 > Multisystemic diseases > Flashcards

Multisystemic diseases Flashcards

1
Q

What is Amyloidosis?

A

Proteinaceous material deposited in organs– due to a variety of clinical disorders

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2
Q

How is amyloidosis defined/diagnosed? How does it appear on H&E? On a Congo red stain? Under polarized light? By electron microscopy

A

-Defined by appearance on light microscopy
H&E:appears as a pink material between cells
Congo red stain: appears red
Under polarized light: apple-green birefringence
electron microscopy: fibrils in a beta-pleated sheets

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3
Q

What are the different clinical causes of amyloidosis?

A
  • multiple myeloma
  • reactive systemic amyloidosis due to chronic inflammatory disease
  • Hemodialysis-associated amyloidosis
  • hereditary amyloidosis
  • localized amyloidosis (plasma cells found around nodules)
  • amyloid of aging
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4
Q

What does amyloid look like on a macroscopic level?

A

When it accumulates in larger amounts, the organ is frequently enlarged and has a waxy, firm consistency

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5
Q

What does amyloid look like and do to cells microscopically?

A

Deposition begins between cells, then surrounds and literally squeezes the cells to death

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6
Q

What is the prognosis of amyloidosis?

A
  • Depends on organs involved

- can be clinically silent or cause serious dysfunction and death

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7
Q

What is hemochromatosis?

A
  • Excessive accumulation of iron, most in the liver and pancreas
  • Humans do not have a major excretory pathway for iron
    - -genetic defect causing excessive iron absorption
    - -administration of iron (transfusions)
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8
Q

What does hemochromatosis look like for different organs?

Liver? Pancreas?

A 
Liver  cirrhosis
rusty appearance
Pancreas  diabetes mellitus
Heart, pituitary, adrenal, thyroid, parathyroid, joints
Skin slate-gray pigmentation

Clinical term: “bronzed diabetes”

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9
Q

What chromosome causes the genetic defect for hemochromatosis? What gender gets it more?

A

ch. 6

males

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10
Q

Treatment for hemochromatosis

A

phlebotomy

iron chelation

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11
Q

What is Wilson Disease?

A

-Copper Accumulation in organs, especially liver, brain, eye (also kidneys, bones, joints, parathyroids)

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12
Q

What are the manifestations of Wilson Disease in the Liver, Brain and Eye?

A

Liver: cirrhosis
Copper stains
Gold standard: quantify copper content in liver

Brain: toxic injury to basal ganglia
mild behavioral changes to psychosis or Parkinson’s-like disease

Eye: Kayser-Fleischer rings: green-brown deposits of copper

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13
Q

What genetic defect causes Wilson Disease?

A

ch. 13!!!!

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14
Q

How do we diagnose and treat Wilson Disease?

A

Lab tests:
decreased serum ceruloplasmin
increased copper in liver
increased urinary excretion of copper

Treatment
copper chelation therapy (D-penicillamine)
liver transplantation

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15
Q

What will a lysosomal storage disease cause

A

accumulation of partially degraded metabolites in lysosomes

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16
Q

What is Tay Sachs disease? What deficiency does it have?

A
  • Deficiency in Hexosaminidase A
  • Accumulation of gangliosides in brain
  • Brain principally affected because most involved in ganglioside metabolism

Electrons Microscopy:
-Neurons with lysosomes with whorled configurations

Infants:

  • mental retardation, blindness, severe neurologic dysfunctions
  • death within 2-3 years
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17
Q

What is Niemann-Pick disease?

A

Deficiency in sphingomyelinase (break down a lysosome enzyme)
–Accumulation of sphingomyelin (a lysosome enzyme) and cholesterol

Organs affected
-spleen, liver, bone marrow, lymph nodes, lungs, central nervous system

Microscopy:
Cells with foamy appearance
Massive enlargement of organs and severe neurologic deterioration
death within 5 years

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18
Q

What is Gaucher disease?

A

Deficiency in glucocerebrosidase
Accumulation of glucocerebrosides (ceramide)

Clinical features:
Massive enlargement of spleen, filling entire abdomen, may get neurological disturbances

Microscopy:
Cells with "wrinkled tissue paper"
Therapy
enzyme replacement
potential gene therapy
infusion of stem cells transfected with normal glucocerebrosidase gene in vitro
19
Q

What is Hurler syndrome?

A
  • deficiency of alpha-L-iduronidase
  • Accumulation of mucopolysaccharides

Clinical features:
Coarse facial features, corneal clouding, joint stiffness, skeletal deformities (gargoylism), mental retardation
Death due to cardiac complications from deposition
Life expectancy 6-10 years

20
Q

What is Hunter syndrome?

A

X-linked
Deficiency of L-iduronate sulfatase
Accumulation of mucopolysaccharides
Milder clinical course than Hurler syndrome

21
Q

What is Pompe disease?

A

Deficiency in glucosidase
Accumulation of glycogen in virtually every organ, cardiomegaly is most prominent
—Cardiorespiratory failure within 2 years
Milder adult form with only skeletal muscle involvement

22
Q

What is rheumatoid arthritis generally?

A
  • Systemic, chronic inflammatory disease that affects principally the joints and sometimes many other organs.
  • Leads to destruction of articular cartilage
  • Symmetric arthritis in small joints
  • Chronic inflammation with lymphocytes, macrophages, plasma cells

-More common in women (3-5x)

23
Q

Where do Rheumatoid subcutaneous nodules occur and what causes them for Rh. Arthritis?

A

Occur along extensor surface of forearm

Central necrosis surrounded by macrophages

24
Q

What is the etiology of rheumatoid arthritis?

A
  • Genetic predisposition
  • Activation of helper T cells (microbe?)–> Cytokines

Cytokines–>
Activation of B cells–>antibodies to self
–Rheumatoid factors (60-80% of patients)
—-autoantibodies directed to Fc portion of IgG

25
Q

How is rheumatoid arthritis clinically seen?

A

Appears insidiously
-Aching and stiffness of the joints in the morning
-Joints enlarge, motion is limited
-Complete ankylosis may occur
In minority, disease may stabilize or even regress
Most pursue chronic, remitting, relapsing course

26
Q

What is Lupus?

A

-Autoimmune disease
-Strong female preponderance (10:1)
Clinically unpredictable:
-Remitting, relapsing of acute or insidious onset
May involve virtually any organ
-Skin
-Kidneys
-Surfaces of lungs (pleura) and heart (pericardium)
-Heart valves
-Joints
-Vessels (acute vasculitis)
!!!!Patient must display 4 or more of criteria for diagnosis

27
Q

What are some of the antibodies involved in Lupus?

A 
Antinuclear antibodies (ANAs)
-Antibodies to DNA
-Antibodies to nucleolar antigens
-Antibodies to histones
-Antibodies to nonhistone proteins bound to RNA
Red blood cells, platelets, lymphocytes
Antiphospholipid antibodies
-In vitro, “lupus anticoagulant
-In vivo, procoagulant state
28
Q

What are the immunologic factors involved in Lupus?

A

Helper T cells drive B cells to make autoantibodies

29
Q

What are outside triggers for Lupus?

A

Drugs

Ultraviolet light

30
Q

How is tissue damage accomplished by Lupus?

A

DNA-anti-DNA complexes get deposited in ti

31
Q

How do we diagnose and treat of Lupus?

A

Diagnosis:
-Antibodies to double-stranded DNA
-Antibodies to Smith antigen
-The titer of anti-double-stranded DNA antibodies correlates with severity of SLE
Treatment: steroids or immunosuppressives

32
Q

What is the problem with immunofluorescense for diagnosing Lupus?s

A

sensitive but not specific

33
Q

What is sjogren syndrome

A

-Immune destruction of lacrimal and salivary glands
-Dry eyes (keratoconjunctivitis sicca)
-Cornea becomes eroded, ulcerated
-Dry mouth (xerostomia)
-Mucosa becomes fissured, ulcerated
Primary defect in T-helper cells–> B hyperactivity
-SS-A
-SS-B
Genetic factors
Predominantly women
1% chance of getting B-cell lymphoma

34
Q

What gender does systemic sclerosis effect most? what do we see with this diseasE?

A

Women > men (3:1)
You see Inflammatory and fibrotic changes
-Skin (95% of cases)
-Viscera
-Gastrointestinal tract, lungs, kidneys, heart, muscle

35
Q

What is the difference between diffuse scleroderma vs. limited scleroderma?

A

Diffuse: Widespread skin involvement; Early visceral involvement; Rapid progression

Limited: Limited skin involvement (Fingers & Face); LATE viscera involvement; benign course–> CREST SYNDROME

36
Q

What is the hallmark of systemic sclerosis? How does it happen

A

FIBROSIS!!!
Activation of immune system (T and B cells)
-> Cytokines–>
-Activation of fibroblasts
-Activation of B cells
-Scl-70 (70-75% patients)
-Anti-centromere antibody (60-80%)

37
Q

What does CREST syndrome stand for?

A 
C = calcinosis
R = Raynaud’s phenomenon
-Reversible vasospasm of the arteries
-Hands turn white on exposure to cold
E = esophageal dysmotility
S = sclerodactyly
T = telangiectasia
38
Q

What is the clinical outcome of systemic sclerosis?

A
  • a steady, slow, downhill course over many years

- Survival much better for those with localized scleroderma

39
Q

What is sarcoidosis? What characterizes it?

A

-Multisystem disease of unknown cause characterized by non-caseating granulomas in many organs
(reOther diseases also cause granulomas: mycobacterial or fungal infections, berylliosis

40
Q

How do we figure out if someone has sarcoidosis?

A

It is a disease of EXCLUSION

41
Q

What are the MACROSCOPIC features of sarcoidosis?

A
  • Granulomas in lungs and adjacent lymph nodes (visible on chest x-ray)
  • Eye and skin involvement, including mucosa of mouth
42
Q

What are the MICROSCOPIC features of sarcoidosis?

A
  • Aggregates of cells: macrophages, giant cells, lymphocytes
    - Schaumann bodies = calcium and proteins
    - Asteroid bodies = star shaped bodies
  • In chronic disease, may be replaced by scar
43
Q

What are the clinical features of sarcoidosis?

A

May be asymptomatic
-discovered on routine chest x-rays or at autopsy
-Enlargement of lymph nodes, skin lesions, eye involvement (can result in blindness), enlarged liver and spleen
-Gradual appearance of respiratory symptoms:
shortness of breath, cough, vague discomfort in chest
-Fever, fatigue, weight loss, anorexia, night sweats
Variable and nonspecific clinical features–> prompts lung or lymph node biopsy

44
Q

What is the prognosis and treatment of sarcoidosis?

A

-Unpredictable course
-progressive and interspersed with remissions
0Over 65-70% of patients recover with minimal or no residual manifestations

Treatment: steroids (immune reaction)

Org Path Exam 2 (8 decks)

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