Exam 3 Feed Flashcards

1
Q
  1. Another example of this rxn:
A

Asthma

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2
Q
  1. Chronic Rejection:

Attack on the vasculature…

A

Attack on the vasculature…

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3
Q
  1. Marfan Syndrome
A

Fibrillin-1

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4
Q
  1. If the T cells in the transplanted organs attacked

the recipient’s organs, this would be called

A

GVHD

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5
Q

xxx

A

xxx

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6
Q
  1. Mutation of small insertion or deletions in alteration in reading frame mutation involving coding sequence
A

Frameshift mutation

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7
Q
  1. Which of the Niemann-Pick Disease types is fatal or severe with CNS affectation
A

Type A

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8
Q
  1. In this event, what event in John’s immune system caused the reaction?
A

Degranulation of mast cells and basophils

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9
Q
  1. Most common disorder in males.
A

Trisomy 21 (g-trisomy)

extra:

Trisomy 13 or D-trisomy (Patau syndrome)

Trisomy 18 or E-trisomy (Edward syndrome)

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10
Q
  1. Defects in Beckwith-Wiedemann Syndrome except:
A

Neonatal hyperglycemia

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11
Q
  1. Inability to metabolize G gangliosides due to lack of a-subunit of lysosomal hexosaminidase …leads to mental retardation.
A

Tay Sachs

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12
Q
  1. T cell non-functional, thymus is absent, abnormalities in face and heart.
A

DiGeorge Syndrome

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13
Q

GLYCOGEN STORAGE DISEASES

A

Type 2 Pompe (acid-α-glucosidase) , von Gierke

(Glu-6P-ase), McArdle (phosphorylase), most studied and discussed, and referred to

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14
Q
  1. Roto-oncogene protein involved in signal transduction

A. TGF alpha
B. RET
C. KRAS
D. NMYC

A

C. KRAS

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15
Q
  1. Inherited fatal genetic lipid storage disorder…
A

ganglioside GM2

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16
Q
  1. Represents disagreement between phenotypic and gonadal sex?
A

Pseudohermaphroditism

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17
Q

Edward Syndrome vs Patau Syndrome

A

Edward: trisomy 18, e-trisomy; webbing of neck, clenched fists with overlapping fingers

Patau: Trisomy 13 or D-trisomy, bilateral cleft lip/palate

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18
Q
  1. DiGeorge Syndrome
A

Thymic hypoplasia/ aplasia

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19
Q

xxx

A

xxx

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20
Q
  1. Professional Antigen Presenting Cells except:
A

CD4+ T Cells

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21
Q
  1. Immunoglobulin involved in hypersensitivity I?
A

IgE

22
Q
  1. Small subgroup on the antigen that are recognized by receptors of immune cells.
A

Epitope

23
Q

xxx

A

xxx

24
Q
  1. Molecular analysis that uses DNA probes that recognize sequences specific to particular chromosomal regions?
A

FISH

25
Q
  1. The following are autosomal dominant disorders except:
A

Fibrosis

26
Q

xxx

A

xxx

27
Q
  1. It is a part of the adaptive immune system:
A

Plasma cells

28
Q
  1. Cause Male hypogonadism
A

Klinefelter’s syndrome

XXY (most common)

29
Q
  1. Other term for primary type of isoform disease
A

Sicca

30
Q
  1. Type IV
A

CONTACT DERMATITIS

31
Q
  1. Neutrophil that has engulfed the antibody-coated nucleus of another
A

neutrophil

LE cell

32
Q
  1. McArdle disease
A

Muscle Phosphorylase

33
Q
  1. Tay Sach’s Disease (TSD)
A

Cherry red spot on the macula

34
Q
  1. Largest category of Mendelian disorder
A

Autosomal recessive

35
Q
  1. Patau Syndrome
A

47, XXY +13

36
Q
  1. Transplanted organ is attacked by host T cells
A

Transplant rejection

37
Q
  1. Nelson a 55 year old man complaining of yellow to white plaque in his tongue that cant be scraped off
    and a bluish to red oval shaped patches. His test CD4 count is below. This person is at risk:
A

if CD4 is below 500

38
Q

xxx

A

xxx

39
Q
  1. Antibody detected for the laboratory diagnosis of SLE:
A

Antinuclear Antibody (ANA)

40
Q
  1. In Ehlers -Danlos has the following manifestations;
A

all of the above: gross contortions, hypermobile joints, diminished wound healing

41
Q
  1. One arm of chromosome is lost, the other is replicated resulting to two short or two long arm.
A

Isochromosome formation

42
Q
  1. Cluster of autosomal recessive disorders; deficiency in enzyme glucocerebrosidase; most common lysosomal storage disorder:
A

Gauchers Disease

43
Q

autosomal dominant

A

HUNTINGTON DISEASE

NEUROFIBROMATOSIS

MYOTONIC DYSTROPHY

TUBEROUS SCLEROSIS

POLYCYSTIC KIDNEY

HEREDITARY SPHEROCYTOSIS

VON WILLEBRAND DISEASE

MARFAN SYNDROME

EHLERS-DANLOS SYNDROMES (some)

OSTEOGENESIS IMPERFECTA

ACHONDROPLASIA

FAMILIAL HYPERCHOLESTEROLEMIA
ACUTE INTERMITTENT PORPHYRIA

44
Q
  1. Defect in Fibrillin-1
A

Marfan syndrome

45
Q

enzyme deficiency is largest known category, is mostly comprised of…

A

LYSOSOMAL STORAGE DISEASES comprise MOST of them

46
Q
  1. 1 year old (male), multiple bacterial infection. Defective B cell
A

Bruton agammaglobulinemia

47
Q
  1. 2nd most common genetic cause of mental retardation
A

Fragile X syndrome

48
Q
  1. Brown to red patches in Nelson’s body are associated with:
A

Kaposis sarcoma

49
Q
  1. Glycoprotein on the surface of HIV:
A

gp120 (kasama ni gp41)

50
Q
  1. Complete or partial monosomy of the X chromosome and is characterized by hypogonadism in females
A

Turner Syndrome

45, X (missing other sex chromosome)

51
Q

Mechanisms to silence potentially autoreactive T cells

A

o Anergy

o Suppression by regulatory T cells o Activation-induced cell death