more principles formative Flashcards
what controls vasomotor tone
sympathetic NS
what is vascular smooth muscle predominantly supplied by
sympathetic
in the heart what NS dominates under resting conditions
parasympathetic
a man with x-linked becker muscular dystrophy has a son - what is the likelihood that his son is affected by the condition
0%
x-linked dominant - ie daughters will get but not sons
when is chromosomal microarray analysis useful
chromosomal imbalance - ie downs 47 XX +21
offers greater genetic resolution
when is PCR useful
identifying specific point mutations ie when you know exactly where you’re looking
when is NGS useful
sequencing of both child and parents to find de novo variants
which genetic test is quick and cheap
chromosomal microarray analysis - NGS is better but more expensive
mosaicism
post zygotic mutation
Mendelian disorders
disease caused by a single gene change - very highly penetrant
mitochondrial inheritance
only from the mother
c.
mRNA change
p.
amino acid change
transcripts are being analysed - what is the material analysis being performed on
RNA ie RNA polymerase for transcription
a woman is affected by an x-linked recessive disorder - why ?
skewed x inactivation
which molecules are responsible for regulating thermostat in fever
prostaglandins - hypothalamus
what type of antibodies can activate mast cells
IgE
which acute phase protein can assist in diagnosis and monitoring of infectious and inflammatory disease
CRP
- has a short-lived nature
- is radially produced
which lab technique is best suited to monitor viral load in patients blood (RNA)
PCR ie for HIV
which lab technique best suited to the analysis of lymphocyte subsets ?
immunophenotyping - investigates the pattern of antigen expression on or in cells through a panel of antibodies
which antimicrobial protein is secreted by epithelial cells at mucosal surfaces
defensin - cysteine rich cationic proteins that can bind to microbial cell membranes
how does the MAC work
can directly lyse pathogen via membrane insertion and osmotic lysis
pinocytosis vs phagocytosis
pino = internalisation of fluids phago = solid particels >0.5um through pseudopodia
what do cytotoxic T cells express
CD8+
what does CD4 do?
identifies T helper cells
what is a virus - generally speaking
a virus is constructed from a protein shell or capsid that encloses an RNA or DNA genome and in some particular cases an additional envelope acquired from host cell membrane
exotoxin
gram +
endotoxin
gram -
facultative anaerobe
can grow in presence and absence of oxygen
capnophilic microbe
grows best in co2 enriched environment
anaerobic
will not grow if oxygen present
malignant lesion in the colon
adenocarcinoma
what is a microbiome
genetic material associated with all the microorganisms colonising the body
a gram positive prokaryote
clostridia
which prokaryote produces spores
clostridia difficile
why is DNA technology good for identifying bacteria from 16s
allows identification of microbes that cannot be grown under normal lab conditions
abx that target protein synthesis
AMINOGLYCOSIDES
gentamicin
TETRACYCLINES
doxycycline
MACROLIDES
erythromycin
abx that target cell wall
PENICILLIN
amoxicillin
GLYCOPEPTIDES
vancomycin
CEPHALOSPORINS
ceftriaxone
abx that affect nucleic acid
metronidazole and ciprofloxacin
when would a transmission based approach be better than a standard infection control approach ?
when attending a ward with c.diff / norovirus
what does blood agar do
classify streptococcus species
a patient diagnosed late with a bowel tumour complain of passing stools through the vagina - what causes this symptom ?
infiltration -
what is a fistula
something that connects to organs that shouldn’t be connected ie ‘infiltration’ (abnormal ie neoplastic)
what does a tumour suppressor genes do
stabilise the genome
what is the sequence of healing
haemostasis, inflammation, repair, remodelling
features of a benign lesion
normal mitotic figure
diploid DNA content
low N : Cytoplasmic ratio
no necrosis
features of malignant lesion
abnormal mitotic figure
high N : Cytoplasmic ration
enlarged and pleomorphic nuclei
evidence of necrosis
predominant cell type of granuloma
lymphocyte
predominant cell types in granulation tissue
endothelial cells and myofibroblasts
what is the consequence of significant cell death in the CNS
liquefactive necrosis
what is the consequence of signifiant cell death in cardiac muscle
coagulative
caseous necrosis
TB
a GP gives VBA to a smoker at an appointment - what type of prevention is this
primary
the science and art of preventing disease prolonging life and promoting health through organised efforts of society
public health
strong possibility of cancer - what do you do ?
do not screen - screening is preventative
send for urgent diagnostic test
equipment to be put on last and taken off first
gloves
