Formatives Review Flashcards
Coding strand
5’ to 3’ direction
is the same as the mRNA but with T instead of you
mRNA also in 5’ to 3’ direction
Example if this is the coding strand what is the mRNA? 3’-TCCCGA-5’
5’-AGCCCU-3’
Example is this is the template strand what is the mRNA? 3’-TCCCGA-5’
mRNA will be antiparallel and complement
5’-AGGGCU-3’
Where is the promoter located?
upstream to the start site
If muscle creatinine kinase is elevated and child has muscle cramps, what does this indicated?
GSD5 - McArdle
problem with muscle glycogen phosphorylase
How can you treat OTC deficiency? (3)
benzoate, phenylbutyrate, phenylacetate
What plasma metabolites elevate in OTC deficiency?
alanine and glutamine
*also elevate with carbamoyl phosphate synthetase deficiency
Extended clonus and tachypnea indicate what ?
hyperammonia
What is the inheritance pattern of carbamoyl phosphatase synthase deficiency?
autosomal recessive
What is the inheritance pattern of OTC defiency?
X-linked recessive
What can indicate carbamoyl synthetase deficiency?
no orotic aciduria since carbamoyl phosphate is not being produced
Too much insulin results in …
hypoglycemia
What determines which mRNA will be produced in a specific tissue?
the presence of specific transcription factors
What does eosin dye?
mitochondria and cytosol
What does hematoxylin dye?
it dyes basophilic structures
nucleus, ribosomes and RER
How do you indicate an adopted child on pedigree?
use dotted line to adopted child
High levels of lactate and uric acid indicates which GSD?
Von Gierke (GSD1) has lactic acidosis
What is the stain of golgi apparatus?
does not stain
What is the only hyperammonia disease that is X-linked recessive?
OTC deficiency
What is the initial immune response to a gram negative bacteria?
TLR-4 binds LPS
What is the initial immune response to a gram positive bacteria?
TLR-2 and TLR-6 bind lipoteichoic acid
Chronic granulomatous disease
prevents phagocytosis
defects in enzyme NADPH oxidase (cannot facilitate respiratory burst)
What is an example of a pattern recognition receptor?
Toll-like receptors
What cell is primary performer of phagocytosis?
macrophages
Major inflammatory cytokines
IL-1, IL-6, TNF-alpha
*these 3 cytokines are capable of producing a cytokine storm
MacConkey agar
Selective for gram-negatives due to bile salt
Differential for lactose producers *
- lactose producers
can metabolize carbon sources into acids
lactic acid fermenters
What is true of anaerobic bacteria?
they cannot survive in O2 environments because it is too reactive
they require low redox environments (anaerobic environments)
What type of test has a short turnaround?
EIA
What toxins are associated with C. Diff?
Toxin A/B
What is the problem with just antigen detection test?
can tell us if genes are present but NOT whether-or-not they are expressed
What is the most toxic part of gram negative bacteria?
lipid A in LPS
What is common virulence factor for E.coli, especially in UTIs?
type I fimbriae to attach to bladder epithelia
*this is common in many enterobacteria
LD50 and virulence
lower LD50 means it takes less pathogen to achieve 50% effect
lower LD50 = higher potency
What pathogen causes diarrhea RAPIDLY?
staph aureus
What is most common bacterial infection following antimicrobial treatment?
C. diff infection
C. diff characteristics
gram positive anaerobic rod
*like other clostridium
Which toxin inhibits 60s ribosome?
shiga and shiga-like toxin
Diffuse muscle weakness associated with nausea and vomitting indicates?
c. botulium
What type of tissue lines bladder?
transitional epithelium
Esophageal muscularis externa
gradually changes from entirely skeletal muscle to smooth muscle in the distal portion
What is included in the mucosa?
epithelial tissue and lamina propria
Is it normal for lymphocytes to be in the lamina propria?
yes
Is it normal for blood vessels to be in submucosa?
yes
what is the normal luminal surface of the esophageous?
non-keratinized stratified squamous
What is always the main site of absorption of an oral drug?
the small intestine regardless of pKa/pH
this is due to the small intestine’s large surface area
If a molecule is very large, how must it be transported?
endocytosis
too big to diffuse through membrane or to fit through channel/transporter
What type of molecules break down easily in stomach?
proteins like insulin and glucagon
When will a weak acid be 99% ionized?
pH +2 from its pKa
(more basic environment makes drug more ionized)
What form must a drug be in to be used?
unionized form
When will a weak base be 99% ionized?
pH -2 from pKa
(more acidic environment makes drug more ionized)
Mobile mass in a young woman is most likely a …
fibroadenoma
Fibroadenoma on ultrasound
circumscribed
hypoechoic
pleomorphic calcifications
Cyst on ultrasound
simple anechoic lesion with thin walls
Anechoic
“without echoes”
means that there is just space, not mass
black on utrasound
Hypoechoic
with echoes
matter on ultrasound
When is galactocele seen?
during lactation
Who is the best person to test in a pedigree to see if a cancer is genetic?
someone with cancer
see if theirs is a genetic cancer
What does Genetics Information Non-discrimination Act protect?
health insurance
employment
What is the first line testing for individuals with autism and developmental delay?
SNP microarray
What is the first line testing for suspected trisomy?
karyotype
Limitations of whole genome sequencing
Cannot detect repeat expansions
Cannot detect rearrangements
Only analyzes exons (not UTR, introns or mitrochondrial DNA)
Where do competitive agonists bind?
to the receptor!
has no intrinsic activity itself
Why do steroidal hormones take a few hours to work?
they work on the nucleus which need to start transcription and make proteins to feel influence
What does an increase in drug half life lead to?
an increase in plasma concentrations at steady state
Total clearance
a sum of renal and hepatic clearance
“excreted in the urine”
indicates renal clearance
Does cancer always mean that gene expression is increased?
No! You also want to reduce expression of things like tumor suppressor genes
Tumor suppressor genes inheritance pattern
autosomal dominant
*still follows 2 hit hypothesis
Methylation and gene expression
methylation decreases gene expression
(does opposite of acetylation)
Acetylation and gene expression
histones’ electrostatic interaction with DNA is weaker and more transcription can occur
(does opposite of methylation)
Examples of epidermal growth factor receptors
MEN 2 and HER2
*both proto-oncogenes
Epidermal growth factor receptors
trigger Ras pathway through tyrosine kinase receptors
Ras pathway
tyrosine kinase phosphorylates Ras which activates it
Ras then phosphorylates MEK which phosphorylates MAP kinase
MAP kinase
increases transcription and translation
(would increase acetylation to loosen DNA for more transcription)
Trastuzumab
therapy for HER2
Tamoxifen / fulvestrant
therapies for ER+
What does a mutation in one p53 gene cause?
Li-Faumeni syndrome characterized by early cancers
If someone has early onset cancer and is positive for TSG, what does this indicate?
their normal cells are carrier of mutation (one allele affected)
their cancerous cells have both mutations
CDK4
can be blocked by p53
phosphorylates Rb to release EF2
BRCA 2 cancers
breast, ovarian, pancreatic, prostate, stomach, and gallbladder/bile duct cancers.
*also fanconi anemia
What happens to lymph nodes when infection occurs?
B-cells are activated in lymph node
B-cell activation spurs the formation of more geminal centers
What can loss of BRCA 2 lead to (niche point)?
misrepair of chromosomal DSBs
error-prone homologous recombination pathway
What is genetics of most urea cycle deficiencies? What is the exception?
autosomal recessive with the exception of OTC (X-linked recessive)
What variant is most common cause of CF?
p.Phe508del
3 gene deletion (single amino acid)
causes buildup in the ER
What is the Fox3p gene associated with?
IPEX
How do Fragile X syndrome and Huntingtons differ?
Fragile X is a loss of function mutation
Hungtington’s is a gain of function (gain ability to accumulate)
Where does blood get filtered in the spleen?
in the red pulp
(outside the germinal centers)
What is the principle cause of sickle cell anemia?
abnormal form of hemoglobin (HbS)
What is the principle cause of thalassemia?
lack of globin chains
What does a hypoproliferative microcytic anemia represent?
Hb production problem
Examples of Hb production problems (2)
Thalassemia
Iron deficiency anemia
MCV and RDW of thalassemia
normally presents with a microcytic uniform RBC population
MCV and RDW of sickle cell
normocytic with increased RDW
What is unique about hereditary spherocytosis?
MCV is normal but size is decreased due to weird membrane
This drives up the HCHC and makes hered. sphero hyperchromic
MCV and RDW of G6PD deficiency
macrocytic uniform cells
Signs of G6PD deficiency (including inheritance patter)
Mediterranean heritage
repeated episodes (illness + foods)
X-linked recessive
What does hemolyzed blood indicate?
hemolysis of RBCs
reticulocyte count should increase to make up for this loss
Hematocrit lab value
Ratio of volume of RBS : total blood volume
Hypoproliferative normocytic anemia indicates …
extrinsic problem (go down morphological pathway due to decreased retic)
Ferroportin
only iron transporter OUT of cells
Hepcidin
controls ferroportin
when hepcidin is increased, ferroportin is suppressed
hepcidin decreases iron secretion AND absorption
Can pulse oximetry give you any information about hemoglobin level ?
no, only tells you what percentage of hemoglobin is bound
this can be a problem if you are anemic but with a normal O2Sat. Oxygenation might be reduced without you realized it
What does glutathione require?
NADPH which is generated by pentose phosphate shunt
What does the Fox3p gene do?
promotes T-Reg development
Where do T-reg cells work?
peripheral tissue
mainly mediate peripheral tolerance
Things to know about MEN2
medullary thyroid carcinoma
activates receptor tyrosine kinase
Things to know about HER2
EGFR
PI3K
Things to know about RB1
sequesters EF2 when hypophosphorylated
Associated with retinal tumors!
Clonality
cell that recognizes a pathogen will divide when exposed to that pathogen
need more of that specific pathogen to fight!
VDJ rearrangement / VJ rearrangement
create specificity and diversity in antigen binding sites on lymphocytes
MHC I receptors
present intracellular antigen to CD8 (cytotoxic T-cells)
use ER and TAP
MHC II receptors
present extracellular antigen to CD4 (helper T-cell)
proteasomes make peptide in endosome
