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Pathology Flashcards

1
Q

Osmolality

A

2(Na + K) + Urea + Glucose

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2
Q

Anion Gap

A

Na + K - Cl - bicarb

Normal: 140 + 4.0 - 102 - 24 = 18

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3
Q

pCO2 normal range

A

4 - 5 kPa

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4
Q

Type 2 diabetes definition

A

Fasting glucose > 7.0 mM

GTT: 75g glucose given at time 0.
At 2hr, plasma glucose > 11.1 mM

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5
Q

Impaired glucose tolerance

A

7.8 - 11.1 mM glucose 2hr after 75g glucose.

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6
Q

Impaired fasting glucose

A

5.5 - 7.0 mM

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7
Q 
Normal ranges for different genders and ethnicities for:
Hb
MCV
WBC
Neutrophils
lymphocytes
eosinophils
monocytes
basophils
platelets
A

Hb females: 11.5 - 15.5 g/dL
Hb males: 13.5 - 17.5 g/dL
MCV: 80-100 fL
WBC: 4.0 - 11.0 x109/L
neutrophils: 2-7.5 x 109/L, 40-75% of WBCs.
lymphocytes: 1.3-3.5 x 109/L, 20-45% of WBCs.
eosinophils: 0.04-0.44 x 109/L, 1-6% of WBCs.
monocytes: 0.20.8 x 109/L. 2-10% of WBCs.
basophils: 0.01 x 109/L, 0-1% of WBCs.
platelets: 150-400 x 109/L

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8
Q

consequence of giving aspirin to children

A

reye syndrome - rash, vomiting, fatty liver, cerebral oedema, NO jaundice

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9
Q

Haemophilia A

Investigations?

A

Factor VIII deficiency
normal PT, prolonged PTT
X-linked recessive

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10
Q

Haemophilia B

Investigations?

A

Factor IX deficiency
normal PT, prolonged PTT
X-linked recessive

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11
Q

Haemophilia C

A

Factor XI deficiency
Autosomal dominant
does NOT lead to bleeding in joints

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12
Q

Match the following immune boosting treatments to their indications:

IFN alpha
Bone marrow transplantation
IFN gamma
EBV-specific CD8 T cells
Human normal immunoglobulin
Varicella zoster immunoglobulin

A. Post-transplant lymphoproliferative disorder
B. Part of treatment for Hepatitis C
C. X linked hyper IgM syndrome
D. X linked SCID
E. Chronic granulomatous disease
F. Immunosuppressed seronegative individual after chicken pox exposure

A 
IFN alpha - B
Bone marrow transplantation - D
IFN gamma - E
EBV-specific CD8 T cells - A
Human normal immunoglobulin - C
Varicella zoster immunoglobulin - F
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13
Q

Match the following immunosuppressants to their side effects:

Cyclophosphamide
Prednisolone
Azathioprine
Cyclosporin
Mycophenolate mofetil
A. Osteoporosis
B. Infertility
C. Progressive multifocal leukoencephalopathy
D. Neutropenia particularly if TPMT low
E. Hypertension
A 
Cyclophosphamide - B
Prednisolone - A
Azathioprine - D
Cyclosporin - E
Mycophenolate mofetil - C
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14
Q

Match the following immune modulators with their function:

Basiliximab (Anti-IL2 receptor)
Abatacept (CTLA4-Ig fusion protein)
Rituximab (Anti-CD20)
Natalizumab (Anti- a4 integrin)
Tocilizumab (Anti-IL6 receptor)

A. Inhibits T cell migration but may only be used in highly active remitting/relapsing MS
B. Inhibits T cell activation and is effective in rheumatoid arthritis
C. Depletes B cells and is effective in treatment of B cell lymphomas and rheumatoid arthritis
D. Inhibits function of lymphoid and myeloid cells and used in management of rheumatoid arthritis
E. Antibody specific for CD25 which inhibits T cell activation and is used to prevent rejection

A 
Basiliximab (Anti-IL2 receptor) - E
Abatacept (CTLA4-Ig fusion protein) - B
Rituximab (Anti-CD20) - C
Natalizumab (Anti- a4 integrin) - A
Tocilizumab (Anti-IL6 receptor) - D
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15
Q

Match diseases with drug and drug action:

Psoriasis
Rheumatoid arthritis
Osteoporosis
Crohn’s disease

  1. Ustekinumab or etanercept
  2. Infliximab
  3. Denosumab
  4. Adalimumab or tocilizumab

A. Inhibit RANK ligand
B. Inhibit IL12/23 or TNF alpha
C. Inhibit TNF alpha
D. Inhibit IL6 or TNF alpha

A

Psoriasis - 1B
Rheumatoid arthritis - 2C
Osteoporosis - 3A
Crohn’s disease - 4D

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16
Q

Recurrent infections with high neutrophil count on FBC but no abscess formation

A. IFN gamma receptor deficiency
B. Leukocyte adhesion deficiency
C. Chronic granulomatous disease
D. Kostmann syndrome

A

B. Leukocyte adhesion deficiency

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17
Q

Recurrent infections with hepatosplenomegaly and abnormal dihydrorhodamine test

A. IFN gamma receptor deficiency
B. Leukocyte adhesion deficiency
C. Chronic granulomatous disease
D. Kostmann syndrome

A

C. Chronic granulomatous disease

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18
Q

Recurrent infections with no neutrophils on FBC

A. IFN gamma receptor deficiency
B. Leukocyte adhesion deficiency
C. Chronic granulomatous disease
D. Kostmann syndrome

A

D. Kostmann syndrome

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19
Q

Infection with atypical mycobacterium. Normal FBC

A. IFN gamma receptor deficiency
B. Leukocyte adhesion deficiency
C. Chronic granulomatous disease
D. Kostmann syndrome

A

A. IFN gamma receptor deficiency

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20
Q

Severe recurrent infections from 3 months,CD4 and CD8 T cells absent, B cell present, IgM present, IgA and IgG absent

A. Bare lymphocyte syndrome type II
B. X-linked SCID
C. DiGeorge’s syndrome
D. IFN gamma receptor deficiency

A

B. X-linked SCID

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21
Q

Young adult with chronic infection with Mycobacterium marinum

A. Bare lymphocyte syndrome type II
B. X-linked SCID
C. DiGeorge’s syndrome
D. IFN gamma receptor deficiency

A

D. IFN gamma receptor deficiency

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22
Q

Recurrent infections in childhood, abnormal facial features, congenital heart disease, normal B cells, low T cells, low IgA and IgG

A. Bare lymphocyte syndrome type II
B. X-linked SCID
C. DiGeorge’s syndrome
D. IFN gamma receptor deficiency

A

C. DiGeorge’s syndrome

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23
Q

14 month baby with two recent serious bacterial infections. T cells present – but only CD8+ population. B cells present. IgM present but IgG absent

A. Bare lymphocyte syndrome type II
B. X-linked SCID
C. DiGeorge’s syndrome
D. IFN gamma receptor deficiency

A

A. Bare lymphocyte syndrome type II

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24
Q

Adult with bronchiectasis, recurrent sinusitis and development of atypical SLE

A. IgA deficiency
B. Common variable immunodeficiency
C. Bruton’s X linked hypogammaglobulinaemia
D. X linked hyper IgM syndrome due to CD40ligand mutation

A

B. Common variable immunodeficiency

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25
Q

Recurrent bacterial infections in a child, episode of pneumocystis pneumonia, high IgM, absent IgA and IgG

A. IgA deficiency
B. Common variable immunodeficiency
C. Bruton’s X linked hypogammaglobulinaemia
D. X linked hyper IgM syndrome due to CD40ligand mutation

A

D. X linked hyper IgM syndrome due to CD40ligand mutation

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26
Q

1 year old boy. Recurrent bacterial infections. CD4 and CD8 T cells present. B cells absent, IgG, IgA, IgM absent

A. IgA deficiency
B. Common variable immunodeficiency
C. Bruton’s X linked hypogammaglobulinaemia
D. X linked hyper IgM syndrome due to CD40ligand mutation

A

C. Bruton’s X linked hypogammaglobulinaemia

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27
Q

Recurrent respiratory tract infections, absent IgA, normal IgM and IgG

A. IgA deficiency
B. Common variable immunodeficiency
C. Bruton’s X linked hypogammaglobulinaemia
D. X linked hyper IgM syndrome due to CD40ligand mutation

A

A. IgA deficiency

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28
Q

Membranoproliferative nephritis and bacterial infections

A. C9 deficiency
B. C3 deficiency with presence of a nephritic factor
C. MBL deficiency
D. C1q deficiency

A

B. C3 deficiency with presence of a nephritic factor

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29
Q

Meningococcus meningitis with family history of sibling dying of same condition aged 6

A. C9 deficiency
B. C3 deficiency with presence of a nephritic factor
C. MBL deficiency
D. C1q deficiency

A

A. C9 deficiency

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30
Q

Severe childhood onset SLE with normal levels of C3 and C4

A. C9 deficiency
B. C3 deficiency with presence of a nephritic factor
C. MBL deficiency
D. C1q deficiency

A

D. C1q deficiency

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31
Q

Recurrent infections when receiving chemotherapy but previously well

A. C9 deficiency
B. C3 deficiency with presence of a nephritic factor
C. MBL deficiency
D. C1q deficiency

A

C. MBL deficiency

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32
Q

Expresses Foxp3 and CD25 and secretes IL-10. Deficient in the monogenic autoimmune disease known as IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome)

  1. Th17 cell
  2. Macrophage
  3. Epithelial cell
  4. T reg cell
  5. Dendritic cell
  6. CD4+ T cell
  7. Neutrophil
  8. Th1 cell
  9. Plasma cell
  10. Megakaryocyte
  11. Lymphocyte
A
  1. T reg cell
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33
Q

In the immature form these cells are adapted for recognition and uptake of pathogens. Maturation is associated with expression of CCR7, migration to lymph nodes and enhanced capacity for antigen presentation.

OPTION LIST

  1. Th17 cell
  2. Macrophage
  3. Epithelial cell
  4. T reg cell
  5. Dendritic cell
  6. CD4+ T cell
  7. Neutrophil
  8. Th1 cell
  9. Plasma cell
  10. Megakaryocyte
  11. Lymphocyte
A
  1. Dendritic cell
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34
Q

These cells can be rapidly mobilised from bone marrow. They express pathogen recognition receptors and Fc receptors and are able to engage in oxidative and non-oxidative killing. They do not express HLA class II molecules and so do not activate CD4 T cells. They are the predominant cell type in synovial fluid taken from patients with gout,

OPTION LIST

  1. Th17 cell
  2. Macrophage
  3. Epithelial cell
  4. T reg cell
  5. Dendritic cell
  6. CD4+ T cell
  7. Neutrophil
  8. Th1 cell
  9. Plasma cell
  10. Megakaryocyte
  11. Lymphocyte
A
  1. Neutrophil
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35
Q

These cells may be formed following a germinal centre reaction involving isotype switching and affinity maturation of receptors. They are long-lived and reside in bone marrow.

OPTION LIST

  1. Th17 cell
  2. Macrophage
  3. Epithelial cell
  4. T reg cell
  5. Dendritic cell
  6. CD4+ T cell
  7. Neutrophil
  8. Th1 cell
  9. Plasma cell
  10. Megakaryocyte
  11. Lymphocyte
A
  1. Plasma cell
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36
Q

These cells express CD3 and secrete IL-17 and IL-22. They are thought to be important in some auto-immune conditions including rheumatoid arthritis.

OPTION LIST

  1. Th17 cell
  2. Macrophage
  3. Epithelial cell
  4. T reg cell
  5. Dendritic cell
  6. CD4+ T cell
  7. Neutrophil
  8. Th1 cell
  9. Plasma cell
  10. Megakaryocyte
  11. Lymphocyte
A
  1. Th17 cell
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37
Q

These cells may be resident in peripheral tissues (eg Kupffer cells in liver, microglia in neural tissue) express pathogen recognition receptors and Fc receptors and are able to engage in oxidative and non-oxidative killing. They are an important source of cytokines such as IL-1 and TNF-alpha and are thought to play an important role in some auto-inflammatory and auto-immune diseases.

OPTION LIST

  1. Th17 cell
  2. Macrophage
  3. Epithelial cell
  4. T reg cell
  5. Dendritic cell
  6. CD4+ T cell
  7. Neutrophil
  8. Th1 cell
  9. Plasma cell
  10. Megakaryocyte
  11. Lymphocyte
A
  1. Macrophage
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38
Q

The normal function of these cells is to express cytokines in response to recognition of specific peptides presented by HLA class II molecules. Depletion of these cells during HIV infection is an important factor in development of AIDS.

OPTION LIST

  1. Th17 cell
  2. Macrophage
  3. Epithelial cell
  4. T reg cell
  5. Dendritic cell
  6. CD4+ T cell
  7. Neutrophil
  8. Th1 cell
  9. Plasma cell
  10. Megakaryocyte
  11. Lymphocyte
A
  1. CD4+ T cell
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39
Q

Play a role in protective immunity against HIV infection by killing virus infected cells via perforin and FAS.

OPTION LIST

  1. Gp120
  2. Anti-metabolites
  3. CCR5
  4. Reverse transcriptase
  5. Basophils
  6. Gastric parietal cells
  7. Protease inhibitors
  8. CCR7
  9. Macrophages
  10. CD8 T cells
  11. IL-8
A
  1. CD8 T cells
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40
Q

Acts as a co-receptor for HIV entry to cells

  1. Gp120
  2. Anti-metabolites
  3. CCR5
  4. Reverse transcriptase
  5. Basophils
  6. Gastric parietal cells
  7. Protease inhibitors
  8. CCR7
  9. Macrophages
  10. CD8 T cells
  11. IL-8
A
  1. CCR5
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41
Q

Serves to generate complementary DNA from RNA, which can then be integrated into host cell genes

  1. Gp120
  2. Anti-metabolites
  3. CCR5
  4. Reverse transcriptase
  5. Basophils
  6. Gastric parietal cells
  7. Protease inhibitors
  8. CCR7
  9. Macrophages
  10. CD8 T cells
  11. IL-8
A
  1. Reverse transcriptase
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42
Q

Directs homing of dendritic cells to lymph nodes

  1. Gp120
  2. Anti-metabolites
  3. CCR5
  4. Reverse transcriptase
  5. Basophils
  6. Gastric parietal cells
  7. Protease inhibitors
  8. CCR7
  9. Macrophages
  10. CD8 T cells
  11. IL-8
A
  1. CCR7
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43
Q

Are often infected by HIV if they express CD4

  1. Gp120
  2. Anti-metabolites
  3. CCR5
  4. Reverse transcriptase
  5. Basophils
  6. Gastric parietal cells
  7. Protease inhibitors
  8. CCR7
  9. Macrophages
  10. CD8 T cells
  11. IL-8
A
  1. Macrophages
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44
Q

Antibodies against this target are partially protective against HIV infection

  1. Gp120
  2. Anti-metabolites
  3. CCR5
  4. Reverse transcriptase
  5. Basophils
  6. Gastric parietal cells
  7. Protease inhibitors
  8. CCR7
  9. Macrophages
  10. CD8 T cells
  11. IL-8
A
  1. Gp120
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45
Q

Are effective in management of HIV infection if used in combination with other drugs

  1. Gp120
  2. Anti-metabolites
  3. CCR5
  4. Reverse transcriptase
  5. Basophils
  6. Gastric parietal cells
  7. Protease inhibitors
  8. CCR7
  9. Macrophages
  10. CD8 T cells
  11. IL-8
A
  1. Protease inhibitors
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46
Q

Mutation in MEFV leads to failure to regulate neutrophil function

Rheumatoid arthritis
Familial Mediterranean Fever
IPEX (immune dysregulation polyendocrinopathy, enteropathy, X linked syndrome)
Crohn’s disease
Ankylosing Spondylitis
A

Familial Mediterranean Fever

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47
Q

Polygenic auto-inflammatory disease in which NOD-2 (CARD 15) mutations are common

Rheumatoid arthritis
Familial Mediterranean Fever
IPEX (immune dysregulation polyendocrinopathy, enteropathy, X linked syndrome)
Crohn’s disease
Ankylosing Spondylitis
A

Crohn’s disease

48
Q

Mixed pattern disease with very high heritability (>90%) and a strong association with HLA-B27

Rheumatoid arthritis
Familial Mediterranean Fever
IPEX (immune dysregulation polyendocrinopathy, enteropathy, X linked syndrome)
Crohn’s disease
Ankylosing Spondylitis
A

Ankylosing Spondylitis

49
Q

Polygenic auto-immune disease associated with polymorphisms in PAD enzymes (which citrullinate proteins). Environmental factors including smoking and gum infection are associated with disease.

Rheumatoid arthritis
Familial Mediterranean Fever
IPEX (immune dysregulation polyendocrinopathy, enteropathy, X linked syndrome)
Crohn’s disease
Ankylosing Spondylitis
A

Rheumatoid arthritis

50
Q

Monogenic auto-immune disease due to a mutation in Foxp3

Rheumatoid arthritis
Familial Mediterranean Fever
IPEX (immune dysregulation polyendocrinopathy, enteropathy, X linked syndrome)
Crohn’s disease
Ankylosing Spondylitis
A

IPEX (immune dysregulation polyendocrinopathy, enteropathy, X linked syndrome)

51
Q

Congenital heart block in infants of mothers with SLE

Anti-DNA antibody
Anti-RNP antibody
Anti-GAD antibody 
Anti-centromere antibody
Anti-Ro antibody
A

Anti-Ro antibody

52
Q

Lupus nephritis

Anti-DNA antibody
Anti-RNP antibody
Anti-GAD antibody 
Anti-centromere antibody
Anti-Ro antibody
A

Anti-DNA antibody

53
Q

Mixed connective tissue disease

Anti-DNA antibody
Anti-RNP antibody
Anti-GAD antibody 
Anti-centromere antibody
Anti-Ro antibody
A

Anti-RNP antibody

54
Q

Limited cutaneous systemic sclerosis

Anti-DNA antibody
Anti-RNP antibody
Anti-GAD antibody 
Anti-centromere antibody
Anti-Ro antibody
A

Anti-centromere antibody

55
Q

Sjogren’s syndrome

Anti-DNA antibody
Anti-RNP antibody
Anti-GAD antibody 
Anti-centromere antibody
Anti-Ro antibody
A

Anti-Ro antibody

56
Q

Antibody to gastric parietal cells

A

Pernicious anaemia

57
Q

Anti-smooth muscle antibody

A

Autoimmune hepatitis

58
Q

Anti-endomysial antibody

A

Coeliac disease

Dermatitis herpetiformis

59
Q

Anti-tissue transglutaminase antibody

A

Coeliac disease

Dermatitis herpetiformis

60
Q

Anti-mitochondrial antibody

A

Primary biliary cirrhosis

61
Q

Mediated predominantly by antibodies which usually form after the transplantation

Hyperacute rejection
Acute cellular rejection
Acute vascular rejection
Chronic allograft rejection

A

Acute vascular rejection

62
Q

Both immunological and non-immunological mechanisms contribute

Hyperacute rejection
Acute cellular rejection
Acute vascular rejection
Chronic allograft rejection

A

Chronic allograft rejection

63
Q

Due to presence of pre-formed antibodies

Hyperacute rejection
Acute cellular rejection
Acute vascular rejection
Chronic allograft rejection

A

Hyperacute rejection

64
Q

Mediated by activation of CD4 T cells which provide help for a CD8 T cell and B cell response and occurs within 1-4 weeks

Hyperacute rejection
Acute cellular rejection
Acute vascular rejection
Chronic allograft rejection

A

Acute cellular rejection

65
Q

Which of the following vaccines are contraindicated in patients on immunosuppressive therapy?

Tetanus
BCG
Meningococcus
Measles
HiB
Diptheria
Polio
Pneumococcus
Yellow fever
Hepatitis B
Influenza
Hepatitis A
A

BCG
Measles
Polio - OK if used killed (Salk) vaccine
Yellow fever

66
Q

A 58 year old pharmacist presents with a 3 month history of skin itching associated with lethargy and loss of energy.
Physical examination is normal, but liver function tests reveal:
Total bilirubin = 36umol/l (0-17umol/l)
ALT = 28U/l (0-31U/l)
Alkaline phosphatase 420U/l (30-130).

OPTION LIST

  1. anti-acetyl choline receptor antibody
  2. anti-adrenal cortex antibody
  3. antibody to double stranded DNA
  4. anti-centromere antibody
  5. anti-TTG antibody
  6. anti-intrinsic factor antibody
  7. anti-mitochondrial antibody
  8. anti-neutrophil cytoplasmic antibody
  9. anti-RNP antibody
  10. anti-smooth muscle antibody
A
  1. anti-mitochondrial antibody
67
Q

A 56 year old prison officer presents with a history of recurrent nose bleeds, haemoptysis and joint pain associated with profound lethargy.
On examination, he has crackles in his upper left lung field, and a cavitating left lung lesion is demonstrated on chest radiography.
Urine dipstick is positive for protein and blood.

OPTION LIST

  1. anti-acetyl choline receptor antibody
  2. anti-adrenal cortex antibody
  3. antibody to double stranded DNA
  4. anti-centromere antibody
  5. anti-TTG antibody
  6. anti-intrinsic factor antibody
  7. anti-mitochondrial antibody
  8. anti-neutrophil cytoplasmic antibody
  9. anti-RNP antibody
  10. anti-smooth muscle antibody
A
  1. anti-neutrophil cytoplasmic antibody
68
Q

A 22 year old woman presents with joint pain and fatigue. She has an intermittent, skin-sensitive rash, and also complains of mouth ulcers. Physical examination is otherwise normal.
Urine dipstick is positive ++ protein and ++ blood.
Full blood count shows a normocytic normochromic anaemia.

OPTION LIST

  1. anti-acetyl choline receptor antibody
  2. anti-adrenal cortex antibody
  3. antibody to double stranded DNA
  4. anti-centromere antibody
  5. anti-TTG antibody
  6. anti-intrinsic factor antibody
  7. anti-mitochondrial antibody
  8. anti-neutrophil cytoplasmic antibody
  9. anti-RNP antibody
  10. anti-smooth muscle antibody
A
  1. antibody to double stranded DNA
69
Q

A 30 year old plumber attends his GP complaining of feeling tired all the time. He has type I diabetes, which is currently well controlled, and a history of irritable bowel syndrome. A full blood count shows a microcytic hypochromic anaemia, and iron studies confirm iron deficiency. Vitamin D levels are within the insufficient range.

OPTION LIST

  1. anti-acetyl choline receptor antibody
  2. anti-adrenal cortex antibody
  3. antibody to double stranded DNA
  4. anti-centromere antibody
  5. anti-TTG antibody
  6. anti-intrinsic factor antibody
  7. anti-mitochondrial antibody
  8. anti-neutrophil cytoplasmic antibody
  9. anti-RNP antibody
  10. anti-smooth muscle antibody
A
  1. anti-TTG antibody
70
Q

A 44 year old builder presents with a history of fingers intermittently becoming very cold and white with recent development of a gangrenous tip of his finger. The skin over his fingers feels ‘tight’ and you note telangectasia on his hands.

OPTION LIST

  1. anti-acetyl choline receptor antibody
  2. anti-adrenal cortex antibody
  3. antibody to double stranded DNA
  4. anti-centromere antibody
  5. anti-TTG antibody
  6. anti-intrinsic factor antibody
  7. anti-mitochondrial antibody
  8. anti-neutrophil cytoplasmic antibody
  9. anti-RNP antibody
  10. anti-smooth muscle antibody
A
  1. anti-centromere antibody
71
Q

A 19 year old student presents with a chronic, extremely itchy rash consisting of papules and vesicles which is distributed symmetrically over the extensor surfaces of her elbows, legs and buttocks. You suspect dermatitis herpetiformis.

OPTION LIST

  1. anti-acetyl choline receptor antibody
  2. anti-adrenal cortex antibody
  3. antibody to double stranded DNA
  4. anti-centromere antibody
  5. anti-TTG antibody
  6. anti-intrinsic factor antibody
  7. anti-mitochondrial antibody
  8. anti-neutrophil cytoplasmic antibody
  9. anti-RNP antibody
  10. anti-smooth muscle antibody
A
  1. anti-intrinsic factor antibody
72
Q

Immunopathology

A. Reflects genetic abnormality affecting the innate immune system, often in a site-specific manner

B. Single gene mutation involving MEFV and affecting the inflammasome complex, resulting in recurrent episodes of serositis

C. May describe damage resulting from the immune response to ongoing infection

D. Reflects genetic abnormality affecting the adaptive immune system and is often associated with presence of auto-antibodies

E. Single gene mutation involving FOXp3 resulting in abnormality of T reg cells

A

C. May describe damage resulting from the immune response to ongoing infection

73
Q

Auto-immune disease

A. Reflects genetic abnormality affecting the innate immune system, often in a site-specific manner

B. Single gene mutation involving MEFV and affecting the inflammasome complex, resulting in recurrent episodes of serositis

C. May describe damage resulting from the immune response to ongoing infection

D. Reflects genetic abnormality affecting the adaptive immune system and is often associated with presence of auto-antibodies

E. Single gene mutation involving FOXp3 resulting in abnormality of T reg cells

A

D. Reflects genetic abnormality affecting the adaptive immune system and is often associated with presence of auto-antibodies

74
Q

Auto-inflammatory disease

A. Reflects genetic abnormality affecting the innate immune system, often in a site-specific manner

B. Single gene mutation involving MEFV and affecting the inflammasome complex, resulting in recurrent episodes of serositis

C. May describe damage resulting from the immune response to ongoing infection

D. Reflects genetic abnormality affecting the adaptive immune system and is often associated with presence of auto-antibodies

E. Single gene mutation involving FOXp3 resulting in abnormality of T reg cells

A

A. Reflects genetic abnormality affecting the innate immune system, often in a site-specific manner

75
Q

Familial Mediterranean Fever

A. Reflects genetic abnormality affecting the innate immune system, often in a site-specific manner

B. Single gene mutation involving MEFV and affecting the inflammasome complex, resulting in recurrent episodes of serositis

C. May describe damage resulting from the immune response to ongoing infection

D. Reflects genetic abnormality affecting the adaptive immune system and is often associated with presence of auto-antibodies

E. Single gene mutation involving FOXp3 resulting in abnormality of T reg cells

A

B. Single gene mutation involving MEFV and affecting the inflammasome complex, resulting in recurrent episodes of serositis

76
Q

IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X linked)

A. Reflects genetic abnormality affecting the innate immune system, often in a site-specific manner

B. Single gene mutation involving MEFV and affecting the inflammasome complex, resulting in recurrent episodes of serositis

C. May describe damage resulting from the immune response to ongoing infection

D. Reflects genetic abnormality affecting the adaptive immune system and is often associated with presence of auto-antibodies

E. Single gene mutation involving FOXp3 resulting in abnormality of T reg cells

A

E. Single gene mutation involving FOXp3 resulting in abnormality of T reg cells

77
Q

Polygenic auto-inflammatory disease. ~30% patients have a mutation of CARD15 which may affect response of myeloid cells to bacteria.

Ankylosing spondylitis
Crohn’s disease
Giant cell arteritis

A

Crohn’s disease

78
Q

Mixed pattern auto-inflammatory / auto-immune disease with >90% heritability that results in inflammation typically involving the sacro-iliac joints and responds to TNF alpha antagonists

Ankylosing spondylitis
Crohn’s disease
Giant cell arteritis

A

Ankylosing spondylitis

79
Q

Polygenic auto-inflammatory disease resulting in a large vessel vasculitis and requiring immediate treatment with high dose corticosteroids

Ankylosing spondylitis
Crohn’s disease
Giant cell arteritis

A

Giant cell arteritis

80
Q

HLA DR4

A. Tyrosine phosphatase expressed in lymphocytes associated with development of auto-immune disease including rheumatoid arthritis

B. MHC class II molecule that is associated with development of auto-immune disease including rheumatoid arthritis

C. Receptor for CD80/CD86, expressed on T cells, that influences T cell activation and is associated with auto-immune disease including diabetes and thyroid disease

D. Antigen presenting molecule that is strongly associated with development of Anti-GBM antibodies

A

B. MHC class II molecule that is associated with development of auto-immune disease including rheumatoid arthritis

81
Q

PTPN22

A. Tyrosine phosphatase expressed in lymphocytes associated with development of auto-immune disease including rheumatoid arthritis

B. MHC class II molecule that is associated with development of auto-immune disease including rheumatoid arthritis

C. Receptor for CD80/CD86, expressed on T cells, that influences T cell activation and is associated with auto-immune disease including diabetes and thyroid disease

D. Antigen presenting molecule that is strongly associated with development of Anti-GBM antibodies

A

A. Tyrosine phosphatase expressed in lymphocytes associated with development of auto-immune disease including rheumatoid arthritis

82
Q

HLA DR15

A. Tyrosine phosphatase expressed in lymphocytes associated with development of auto-immune disease including rheumatoid arthritis

B. MHC class II molecule that is associated with development of auto-immune disease including rheumatoid arthritis

C. Receptor for CD80/CD86, expressed on T cells, that influences T cell activation and is associated with auto-immune disease including diabetes and thyroid disease

D. Antigen presenting molecule that is strongly associated with development of Anti-GBM antibodies

A

D. Antigen presenting molecule that is strongly associated with development of Anti-GBM antibodies

83
Q

CTLA4

A. Tyrosine phosphatase expressed in lymphocytes associated with development of auto-immune disease including rheumatoid arthritis

B. MHC class II molecule that is associated with development of auto-immune disease including rheumatoid arthritis

C. Receptor for CD80/CD86, expressed on T cells, that influences T cell activation and is associated with auto-immune disease including diabetes and thyroid disease

D. Antigen presenting molecule that is strongly associated with development of Anti-GBM antibodies

A

C. Receptor for CD80/CD86, expressed on T cells, that influences T cell activation and is associated with auto-immune disease including diabetes and thyroid disease

84
Q

Recurrent infections with high neutrophil count on FBC but no abscess formation

IFN gamma receptor deficiency
Leukocyte adhesion deficiency
Chronic granulomatous disease
Kostmann syndrome

A

Leukocyte adhesion deficiency

85
Q

Recurrent infections with hepatosplenomegaly and abnormal dihydrorhodamine test

IFN gamma receptor deficiency
Leukocyte adhesion deficiency
Chronic granulomatous disease
Kostmann syndrome

A

Chronic granulomatous disease

86
Q

Recurrent infections with no neutrophils on FBC

IFN gamma receptor deficiency
Leukocyte adhesion deficiency
Chronic granulomatous disease
Kostmann syndrome

A

Kostmann syndrome

87
Q

Infection with atypical mycobacterium. Normal FBC

IFN gamma receptor deficiency
Leukocyte adhesion deficiency
Chronic granulomatous disease
Kostmann syndrome

A

IFN gamma receptor deficiency

88
Q

Severe recurrent infections from 3 months,CD4 and CD8 T cells absent, B cell present, IgM present, IgA and IgG absent

Bare lymphocyte syndrome type II
X-linked SCID
DiGeorge’s syndrome
IFN gamma receptor deficiency

A

X-linked SCID

89
Q

Young adult with chronic infection with Mycobacterium marinum

Bare lymphocyte syndrome type II
X-linked SCID
DiGeorge’s syndrome
IFN gamma receptor deficiency

A

IFN gamma receptor deficiency

90
Q

Recurrent infections in childhood, abnormal facial features, congenital heart disease, normal B cells, low T cells, low IgA and IgG

Bare lymphocyte syndrome type II
X-linked SCID
DiGeorge’s syndrome
IFN gamma receptor deficiency

A

DiGeorge’s syndrome

91
Q

6 month baby with two recent serious bacterial infections. T cells present – but only CD8+ population. B cells present. IgM present but IgG absent

Bare lymphocyte syndrome type II
X-linked SCID
DiGeorge’s syndrome
IFN gamma receptor deficiency

A

Bare lymphocyte syndrome type II

92
Q

Adult with bronchiectasis, recurrent sinusitis and development of atypical SLE

A. IgA deficiency

B. Common variable immunodeficiency

C. Bruton’s X linked hypogammaglobulinaemia

D. X linked hyper IgM syndrome due to CD40ligand mutation

A

B. Common variable immunodeficiency

93
Q

Recurrent bacterial infections in a child, episode of pneumocystis pneumonia, high IgM, absent IgA and IgG

A. IgA deficiency

B. Common variable immunodeficiency

C. Bruton’s X linked hypogammaglobulinaemia

D. X linked hyper IgM syndrome due to CD40ligand mutation

A

D. X linked hyper IgM syndrome due to CD40ligand mutation

94
Q

1 year old boy. Recurrent bacterial infections. CD4 and CD8 T cells present. B cells absent, IgG, IgA, IgM absent

A. IgA deficiency

B. Common variable immunodeficiency

C. Bruton’s X linked hypogammaglobulinaemia

D. X linked hyper IgM syndrome due to CD40ligand mutation

A

C. Bruton’s X linked hypogammaglobulinaemia

95
Q

Recurrent respiratory tract infections, absent IgA, normal IgM and IgG

A. IgA deficiency

B. Common variable immunodeficiency

C. Bruton’s X linked hypogammaglobulinaemia

D. X linked hyper IgM syndrome due to CD40ligand mutation

A

A. IgA deficiency

96
Q

Membranoproliferative nephritis and bacterial infections

A. C9 deficiency

B. C3 deficiency with presence of a nephritic factor

C. MBL deficiency

D. C1q deficiency

A

B. C3 deficiency with presence of a nephritic factor

97
Q

Meningococcus meningitis with family history of sibling dying of same condition aged 6

A. C9 deficiency

B. C3 deficiency with presence of a nephritic factor

C. MBL deficiency

D. C1q deficiency

A

A. C9 deficiency

98
Q

Severe childhood onset SLE with normal levels of C3 and C4

A. C9 deficiency

B. C3 deficiency with presence of a nephritic factor

C. MBL deficiency

D. C1q deficiency

A

D. C1q deficiency

99
Q

Recurrent infections when receiving chemotherapy but previously well

A. C9 deficiency

B. C3 deficiency with presence of a nephritic factor

C. MBL deficiency

D. C1q deficiency

A

C. MBL deficiency

100
Q

IFN alpha

A. Post-transplant lymphoproliferative disorder

B. Part of treatment for Hepatitis C

C. X linked hyper IgM syndrome

D. X linked SCID

E. Chronic granulomatous disease

F. Immunosuppressed seronegative individual after chicken pox exposure

A

B. Part of treatment for Hepatitis C

101
Q

Bone marrow transplantation

A. Post-transplant lymphoproliferative disorder

B. Part of treatment for Hepatitis C

C. X linked hyper IgM syndrome

D. X linked SCID

E. Chronic granulomatous disease

F. Immunosuppressed seronegative individual after chicken pox exposure

A

D. X linked SCID

102
Q

IFN gamma

A. Post-transplant lymphoproliferative disorder

B. Part of treatment for Hepatitis C

C. X linked hyper IgM syndrome

D. X linked SCID

E. Chronic granulomatous disease

F. Immunosuppressed seronegative individual after chicken pox exposure

A

E. Chronic granulomatous disease

103
Q

EBV-specific CD8 T cells

A. Post-transplant lymphoproliferative disorder

B. Part of treatment for Hepatitis C

C. X linked hyper IgM syndrome

D. X linked SCID

E. Chronic granulomatous disease

F. Immunosuppressed seronegative individual after chicken pox exposure

A

A. Post-transplant lymphoproliferative disorder

104
Q

Human normal immunoglobulin

A. Post-transplant lymphoproliferative disorder

B. Part of treatment for Hepatitis C

C. X linked hyper IgM syndrome

D. X linked SCID

E. Chronic granulomatous disease

F. Immunosuppressed seronegative individual after chicken pox exposure

A

C. X linked hyper IgM syndrome

105
Q

Varicella zoster immunoglobulin

A. Post-transplant lymphoproliferative disorder

B. Part of treatment for Hepatitis C

C. X linked hyper IgM syndrome

D. X linked SCID

E. Chronic granulomatous disease

F. Immunosuppressed seronegative individual after chicken pox exposure

A

F. Immunosuppressed seronegative individual after chicken pox exposure

106
Q

Cyclophosphamide

A. Osteoporosis

B. Infertility

C. Progressive multifocal leukoencephalopathy

D. Neutropenia particularly if TPMT low

E. Hypertension

A

B. Infertility

107
Q

Prednisolone

A. Osteoporosis

B. Infertility

C. Progressive multifocal leukoencephalopathy

D. Neutropenia particularly if TPMT low

E. Hypertension

A

A. Osteoporosis

108
Q

Azathioprine

A. Osteoporosis

B. Infertility

C. Progressive multifocal leukoencephalopathy

D. Neutropenia particularly if TPMT low

E. Hypertension

A

D. Neutropenia particularly if TPMT low

109
Q

Cyclosporin

A. Osteoporosis

B. Infertility

C. Progressive multifocal leukoencephalopathy

D. Neutropenia particularly if TPMT low

E. Hypertension

A

E. Hypertension

110
Q

Mycophenolate mofetil

A. Osteoporosis

B. Infertility

C. Progressive multifocal leukoencephalopathy

D. Neutropenia particularly if TPMT low

E. Hypertension

A

C. Progressive multifocal leukoencephalopathy

Rituximab also does this

111
Q

Basiliximab (Anti-IL2 receptor)

A. Inhibits T cell migration but may only be used in highly active remitting/relapsing MS

B. Inhibits T cell activation and is effective in rheumatoid arthritis

C. Depletes B cells and is effective in treatment of B cell lymphomas and rheumatoid arthritis

D. Inhibits function of lymphoid and myeloid cells and used in management of rheumatoid arthritis

E. Antibody specific for CD25 which inhibits T cell activation and is used to prevent rejection

A

E. Antibody specific for CD25 which inhibits T cell activation and is used to prevent rejection

112
Q

Abatacept (CTLA4-Ig fusion protein)

A. Inhibits T cell migration but may only be used in highly active remitting/relapsing MS

B. Inhibits T cell activation and is effective in rheumatoid arthritis

C. Depletes B cells and is effective in treatment of B cell lymphomas and rheumatoid arthritis

D. Inhibits function of lymphoid and myeloid cells and used in management of rheumatoid arthritis

E. Antibody specific for CD25 which inhibits T cell activation and is used to prevent rejection

A

B. Inhibits T cell activation and is effective in rheumatoid arthritis

113
Q

Rituximab (Anti-CD20)

A. Inhibits T cell migration but may only be used in highly active remitting/relapsing MS

B. Inhibits T cell activation and is effective in rheumatoid arthritis

C. Depletes B cells and is effective in treatment of B cell lymphomas and rheumatoid arthritis

D. Inhibits function of lymphoid and myeloid cells and used in management of rheumatoid arthritis

E. Antibody specific for CD25 which inhibits T cell activation and is used to prevent rejection

A

C. Depletes B cells and is effective in treatment of B cell lymphomas and rheumatoid arthritis

114
Q

Natalizumab (Anti- a4 integrin)

A. Inhibits T cell migration but may only be used in highly active remitting/relapsing MS

B. Inhibits T cell activation and is effective in rheumatoid arthritis

C. Depletes B cells and is effective in treatment of B cell lymphomas and rheumatoid arthritis

D. Inhibits function of lymphoid and myeloid cells and used in management of rheumatoid arthritis

E. Antibody specific for CD25 which inhibits T cell activation and is used to prevent rejection

A

A. Inhibits T cell migration but may only be used in highly active remitting/relapsing MS

(use restrictively due to risk of PML)

115
Q

Tocilizumab (Anti-IL6 receptor)

A. Inhibits T cell migration but may only be used in highly active remitting/relapsing MS

B. Inhibits T cell activation and is effective in rheumatoid arthritis

C. Depletes B cells and is effective in treatment of B cell lymphomas and rheumatoid arthritis

D. Inhibits function of lymphoid and myeloid cells and used in management of rheumatoid arthritis

E. Antibody specific for CD25 which inhibits T cell activation and is used to prevent rejection

A

D. Inhibits function of lymphoid and myeloid cells and used in management of rheumatoid arthritis

Pathology (4 decks)

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