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BECOM 1 > BECOM Exam #4 > Flashcards

BECOM Exam #4 Flashcards

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1
Q

Cystinuria

A

Poor resorption of acidic AAs, high Cys in urine, kidney stones; treated by urinary alkalinization with citrate or acetazolamide, dietary salt & Met restriction.

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2
Q

Cystinosis

A

(Pediatric)Lysosomal accumulation of cystine (oxidized cysteine); treated with cysteamine to form cysteamine-Cys for excretion. Can lead to Fanconi syndrome.

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3
Q

Homocysteinuria

A

Defects in CbS (usually). Displacement of lens (down and in)*, cognitive defects (variable), long limbs, increased thrombosis

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4
Q

Sideroblastic anemia

A 
Enough iron but it isn’t incorporated due to 
problems with red cell maturation.  
-Serum Iron: High
-Increased ferritin levels
-High transferrin saturation
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5
Q

microcytic hypochromic

A

-nucleated RBC

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6
Q

low stomach acid

A

low Fe absorption

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7
Q

pregnant women Fe levels

A

Brain mitochondrial Fe-S proteins

Fetal brain development

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8
Q

Causes of microcytic

anemias

A

thalassemia
Fe def
chronic disease
sideroblastic anemia

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9
Q

Fe def anemia

A

often associated with chronic blood loss

  • low iron and ferritin
  • high TIBC
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10
Q

Thalassemia anemia

A

normal Fe serum

-high iron and ferritin

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11
Q

A high UIBC, TIBC, or transferrin normally indicates

A

iron deficiency

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12
Q

hemochromatosis

A

Too much Fe

-High serum ferritin

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13
Q

non essential AA

A

alanine, aspartate, cysteine, glutamate

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14
Q

Ketogenic AA

A

leucine and lysine

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15
Q

ALT and AST cofactor

A

B6 (plp) (pyridoxal phosphate)

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16
Q

Non oxidative deamination enzymes

A

threonine, serine, cysteine, histidine

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17
Q

Ammonia as neurotoxin

A

high NH3+, high glutamate, low glutamate, low alpha ketoglutarate, low atp

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18
Q

NH3+ + HCO- = Carbonyl phosphate enzyme and cofactor

A

CPS-1 (NAG)

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19
Q

Urea amine donation

A

first: aspartate second: glutamate

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20
Q

Defects of urea cycle & treatment

A

phenylbutyrate (glutamate + NH3+ = glutamine ->

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21
Q

Maple syrup urine disease

A
  • branched chain amino acids

- defective Branched chain alpha ketoacid dehydrogenase

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22
Q

Maple syrup urine disease amino acids

A

-Leu, Ile & Val

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23
Q

Phenylketonuria (PKU)

A

Deficiency of phenylalanine hydroxylase

-PKU may be mimicked by deficiencies of enzymes that synthesize tetrahydrobiopterin (BH4), the PAH cofactor

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24
Q

Alkaptonuria

A

Mutation in homogentisic acid oxidase

-Homogentisic aciduria

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25
Tyrosinemias
enzyme mutation in phenylalanine pathway
26
Folate and babies
High folate may mask peripheral indications of B12 deficiency, allow cryptic CNS effects “Unmetabolized” folic acid may interfere with DHFR, MTHFR
27
anti-folates (e.g. methotrexate) block
DHFR -Note: Blocking DHFR  inhibit purine and thymidine synthesis, slow rapid cell division. Can cause megaloblastic anemia.
28
Fluorodeoxy-uracil
TS (dUMP->dTMP
29
main source of carbon for Folate cycle
serine
30
B12 used by 2 mammal enzymes
MS & methyl malonyl CoA- Succinyl CoA mutase (uses adenosyl cobalamin) -Deficiency -> Methyl malonic acid accumulation, weakens myelin. Methyl malonic acidemia
31
Transsulfuration pathway enzymes
CBS (B6), CyL (B6)
32
RBC glycolysis specific pathway
- NADPH -> Fe3+ -> Fe2+ (metHb) | - 1,3 BPG -> 2,3 BPG
33
1,3 BPG -> 2,3 BPG enzyme
bisphosphoglycerate mutase
34
microcytic, hypochromic
- Fe def. - Thalassemia - Lead poisoning
35
macrocytic, normochromic
- B12/Folate acid def | - erythroleukemia
36
Normocytic, normochromic
acute bleeding sickle cell metabolic defects
37
All carbons and nitrogen in the porphyrin ring are derived from
glycine and succinyl CoA (all nitrogens from glycine).
38
Heme synthesis enzymes and cofactors
ala syntheses (B6), ala dyhydratase (lead inhibits)
39
acute porphyria
characterized by episodic acute neurovisceral attacks
40
non acute porphyria
characterized by light-sensitive lesions
41
van den Bergh's test
- Total bilirubin = conjugated (direct) + unconjugated (indirect) - Total bilirubin - unconjugated bilirubin (indirect bilirubin) must be released from albumin by addition of caffeine-benzoate
42
If direct (i.e. conjugated) bilirubin is normal, then the problem is
an excess of unconjugated bilirubin, and the location of the problem is upstream of bilirubin excretion
43
If direct bilirubin is elevated,
then the liver is conjugating bilirubin normally, but is not able to excrete it. Bile duct obstruction should be suspected.
44
Beta-lactam antibiotics (penicillins, cephalosporins, carbapenams) target which offollowing bacterial components which ultimately results in destruction of the bacterium?
prevents peptidoglycan from cross-linking properly in the last stages of bacterial cell wall synthesis
45
High transferrin means
low iron (deficiency)
46
Hepcidin
more will degrade ferroportin | will take up less Fe
47
Ferritin
binds Fe3+ in cell
48
CD4
helper T cells
49
CD8
cytotoxic T cells
50
Adaptive cell
B T NK and antibodies
51
lymph drainage
afferent, sub scapular sinus, cortex, paracortex, medullary sinus efferent
52
primary lymph
- made in bone marrow - B cells mature in bone marrow - thymus T cells mature
53
secondary
where white blood cells meet APC
54
Red pulp of spleen
sinuses filled with MΦ, erythrocytes, & dense network of reticular fibers (reticuloendothelial system is an old term that refers to a dense network of phagocytic cells, predominantly MΦ, in reticular connective tissues); this is where old, fragile RBCs are eliminated by splenic MΦ
55
White pulp
dense lymphoid tissue; lymphocytes, DCs, MΦ surrounding small branches of splenic artery
56
Marginal zone
dense lymphoid tissue; lymphocytes, DCs, MΦ surrounding small branches of splenic artery
57
Marginal zone
surrounds outer perimeter of follicles & contains marginal zone B cells, which make T-independent responses (w/o T cell help) mainly to repetitive bacterial cell wall polysaccharide antigens—these MZ B cells underlie spleen’s effectiveness at opsonizing encapsulated bacteria & fungi; abundant splenic MΦ facilitate elimination of those opsonized pathogens.
58
Periarteriolar lymphoid sheath (PALS)
Periarteriolar lymphoid sheath (PALS)—
59
Hapten
molecule that can be recognized by immunoglobulins but incapable of eliciting an immune response by itself; can be coupled to protein carriers to induce immune response
60
epitope and different types
the specific sequence on an antigen that binds to an antibody -linear and discontinuous
61
Characteristics of Pattern Recognition Receptors (PRRs):
- Invariant. - Germ-line encoded. - Ever-present and expressed. - Recognize general structures that share certain characteristics, i.e. broad patterns, not very specific. - Protein subunits may oligomerize at varying levels & oligomerization can initiate downstream cell signaling.
62
mast cells
contain histamine granules used during inflammation to cause vasodilation inc vascular permeability
63
what cytokines does macrophages release?
IL-1 and TNF-a
64
Th1
macrophages (intercellular pathogen)
65
Th2
eosinophils (allergies and parasites)
66
Th17
neutrophils (extracellular pathogen)
67
G-CSF
neutrophils
68
M-CSF
macrophages
69
GM-CSF
dendritic cells
70
IL-5
eosinophils
71
where are macrophages and monocytes found
- tissue | - circulation
72
what cytokines do macrophage release
TNF-α, IL-1B, IL-12
73
MCHI vs MCHII
- all nucleated cells | - MCHII APC specific
74
left shift
inc in immature neutrophils (band cells) due to
75
Non-disease production fungi MAY cause disease in .... host
immunocompromised
76
unicellular fungi
yeast
77
multicellular fungi
(molds) which have long branching filaments called “hyphae”
78
Masses of hyphae are referred to as
mycelium
79
septate hyphae
crosswalls
80
aseptate hyphae
no crosswalls
81
Have cell walls primarily made of
chitin, glucan and mannan
82
The sterols in the cell membrane are
egosterol
83
in bacterial cell high glucose means
dec cAMP = low CAP
84
in bacterial cell high low glucose means
inc cAMP = high CAP
85
Conjugation
Donor cells transfer genetic information to a recipient cell
86
Transformation
occurs when a recipient cell takes up a fragment of donor DNA from the surrounding growth medium
87
Transduction
is the transfer of genetic material from a donor to a recipient cell by way of a bacteriophage
88
Hfr
plasmid plus some chromosomal genes transferred
89
F'
plasmid but cant donate

BECOM 1 (4 decks)

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