FOM2 Flashcards
(131 cards)
1
Q
severe vomiting can lead to what acid-base disturbance
A
metabolic alkalosis
2
Q
severe anxiety can cause which acid base disturbance
A
respiratory alkalosis
3
Q
renal failure primarily causes which acid base disturbance
A
metabolic acidosis
4
Q
what is the inheritance pattern of Huntingtons disease
A
autosomal dominant
5
Q
what is the inheritance pattern of Marfan syndrome
A
autosomal dominant
6
Q
Duchenne muscular dystrophy follows which disease inheritance
A
x-linked recessive
7
Q
what is the inheritance pattern of sickle cell anaemia
A
autosomal recessive
8
Q
what is the inheritance pattern of thalassaemia
A
autosomal recessive
9
Q
what pattern of inheritance does cystic fibrosis follow
A
autosomal recessive
10
Q
what genetic test is used to confirm Down syndrome
A
karotyping
11
Q
which genetic mutation is most commonly associated with cystic fibrosis
A
CFTR gene
12
Q
A 47, XXY karyotype is identified. What condition does this indicate?
A
Klinifelter syndrome
13
Q
A mother is a carrier for an X-linked recessive disorder. The father is unaffected. What is the chance their son will be affected?
A
50%
14
Q
X-linked recessive diseases- what are the chance of female and male carriers passing on to children
A
female carriers- 50% daughters affected, 50% sons affected
male carriers- all daughters affected, no sons affected
15
Q
what is penetrance
A
the likelihood of having a disease if you have a variant
16
Q
what is imprinting
A
disease depends on whether gene comes from mother or father
17
Q
Chromosomal microarray (including CGH) can detect balanced changes, true or false?
A
FALSE
Can detect only unbalanced changes
18
Q
Trisomy 18-
A
Edwards syndrome
19
Q
What is the enzyme responsible for the conjugation of bilirubin in the liver?
A
UDP-glucuronyltransferase
20
Q
what is the most likely viral cause of croup
A
parainfluenza virus
21
Q
which cell mediates type IV (delayed) hypersensitivity reactions
A
T cell mediated
22
Q
A patient with systemic lupus erythematosus develops glomerulonephritis. What type of hypersensitivity is involved?
A
type III
23
Q
which hypersensitivity reaction occurs in autoimmune haemolytic anaemia
A
type II
24
Q
what are the key features for innate immunity
A
fast
non-specific
immediate response
no memory
25
which cells are the first to respond to infection
neutrophils
26
Which cytokines mediate inflammation in the innate response?
IL-1
IL-6
TNF-a
27
What is the role of dendritic cells?
antigen presenting cells that link innate to adaptive immunity
28
what are the key features for adaptive immunity
specific
slower
memory forming
improves with exposure
29
what are the 2 main cell types involved in adaptive immunity
B cells
T cells
30
Which MHC class presents to CD4+ T cells?
MHC class II (on APCs)
31
Which MHC class presents to CD8+ T cells?
MHC class I (on all nucleated cells)
32
What is the gram stain of Staph aureus?
gram positive cocci in clusters
33
most common cause of common cold
rhinovirus
34
What virus causes infectious mononucleosis?
epstein barr virus (EBV)
35
what cells dominate acute inflammation
neutrophils
36
what cells dominate chronic inflammation
plasma cells
macrophages
lymphocytes
37
which key mediators cause vasodilation
histamine
prostaglandins
nitric oxide
38
what is incidence
number of new cases in a population over a period of time
39
what is prevalence
total number of cases (new and existing) over a given period of time
40
what is sensitivity
the ability of a test to correctly identify those with the disease (true positive rate)
41
what is specificity
the ability of a test to correctly identify those without the disease (true negative rate)
42
What is lead-time bias in screening?
apparent increase in survival due to earlier diagnosis, not actual improvements in outcome
43
What is herd immunity?
When enough of a population is immune (via vaccination or prior infection) that disease spread is unlikely.
44
What is the difference between equality and equity in health?
Equality: same resources for everyone
Equity: resources based on individual needs to ensure equal outcomes
45
What is a cohort study?
an observational study where participants are grouped by exposure and followed over a period of time to see who develops the outcome
46
What is a case-control study?
An observational study where participants are grouped by outcome status, and past exposures are compared
47
relative risk formula (RR)
RR= risk in exposed group/ risk in unexposed group
48
Which enzyme is directly responsible for synthesising RNA during transcription?
RNA polymerase
49
which organism is the most common cause of septic arthritis in adults
staph aureus
50
Which organism is most commonly responsible for necrotising fasciitis?
strep pyogenes
51
Definition: When a clinician disregards population-based statistics (epidemiology) because they think their patient is an exception.
Example: Not prescribing anticoagulation for an elderly AF patient despite guidelines, because “he seems really fit.” what is this known as?
aggregate bias
52
Definition: When a clinician’s thinking is influenced by prior expectations, stereotypes, or patient characteristics, rather than objective data.
Example: Assuming a young male with chest pain is anxious because of his age/gender, and missing myocarditis. what is this known as?
ascertainment bias
53
"The disposition to judge things as being more likely, or frequently occurring, if they readily come to mind" is known as?
availability
54
"The tendency to perceptually lock onto salient features in the patient's initial presentation too early in the diagnostic process, and failing to adjust this initial impression in the light of later information" is known as what?
anchoring
55
Definition: When a clinician overestimates their own diagnostic accuracy or knowledge, leading to errors.
Example: Skipping guideline checks or second opinions because “I’m sure it’s this.”
what is this known as?
overconfidence bias
56
Definition: Stopping the diagnostic process too early when something is found that explains the symptoms — even if it’s not the full picture.
Example: Finding a UTI in a confused elderly patient and missing underlying sepsis or stroke.
what is this known as?
Search Satisficing
57
Definition: Attributing a patient's symptoms to personal traits or behaviours rather than situational or medical causes.
Example: Thinking a patient is non-compliant or lazy, when they may have untreated depression or learning difficulties.
what is this known as?
Fundamental Attribution Error
58
what is the difference between a prospective and retrospective cohort study
prospective- both the exposure and the outcome have not yet occurred yet when study begins
retrospective- Both exposure and outcome have already occurred when the study begins
59
In genetics, _________ means that only one copy of a gene is working, causing reduced protein production
haploinsufficiency
60
Non-invasive testing (fetal DNA in maternal blood) a test for genetic diseases in pregnancy that can be done when? It can only pick up what type of conditions?
after 8 weeks
trisomies
61
what is di George syndrome
chromosome microdeletion of 22q11.2
62
di George syndrome key features CATCH22
cardiac defects- tetralogy of falot, truncus arteriosus, aortic arch
abnormal faces- low set ears, small jaw, long face
thymic defects
cleft palate
hypocalcaemia- hypoparathyroidism
22- chromosome 22
63
when do cardiovascular systems develop in a foetus
week 3
64
what germ layer does the heart fields form from (specific)
splanchnic mesodermal layer
65
can karotyping detect unbalanced/balanced changes?
both!
66
can aCGH detect unbalanced/balanced changes?
only unbalanced
67
What is one major advantage of aCGH over karyotyping?
aCGH has a higher resolution and can detect microdeletions and microduplications that are too small to be seen on karyotyping
68
Which test requires dividing cells, karyotyping or aCGH?
karyotyping
69
Give an example of a clinical scenario where karyotyping is preferred over aCGH
When balanced translocations or inversions are suspected, such as in infertility or recurrent miscarriages
70
what does 100% penetrance mean?
means you will always get the disease if you have the variant
71
what are mendelian disorders
essentially a disease that is predominantly caused by a change in a single gene (high penetrance)
72
what does variant mean in genetics
any changes in DNA sequence, can be pathogenic or benign
73
what does mutation mean
commonly used to describe a pathogenic mutation
74
what does polymorphism mean
a variant that is prevalent in general population, often used to imply 'benign', may have low penetrance
75
How do common variants differ from rare variants in terms of frequency and penetrance?
Common variants have high frequency but low penetrance; rare variants have low frequency but high penetrance
76
What is a missense mutation?
A single nucleotide change resulting in a different amino acid (e.g., p.Gly12Ser)
77
What does p.* or Ter denote?
A stop codon
78
What is a silent mutation?
A base change that does not change the amino acid sequence (e.g., p.Gly12Gly)
79
What is the central dogma of molecular biology?
DNA is transcribed into RNA, which is translated into protein
80
What is a nonsense mutation?
A base change that creates a premature stop codon
81
What is a de novo variant?
A genetic variant that arises newly in the patient, not inherited from parents
82
how many bases of sequence are there in a human genome
3 billion
83
what percentage of the genome codes for a protein
1-2%
84
if I sequenced one person and compared them to another, how many differences would I find
3,000,000
85
If there is a high penetrance genetic cause of bad hair affecting Mr Johnson, what is the smallest molecular size of variation that could cause this?
A few atoms
A single base deleted
10 bases
100 bases
1000 bases
a few atoms
86
what's the best genetic test to find point variations
next generation sequencing
87
what type of bacteria is strepcoccus pneumoniae
gram positive diplococci
88
gram positive bacteria have thin/thick peptidoglycan
thick
89
gram negative bacteria have thin/thick peptidoglycan
thin
90
what colours do gram positive and gram negative bacteria stain
gram positive- purple
gram negative- pink
91
what type of vaccine is the PPV vaccine
inactivated (killed) vaccine
92
Which antibody class is primarily responsible for haemolytic disease of the newborn (HDN)?
igG
93
How does Rh incompatibility lead to HDN?
Rh negative mother produces IgG antibodies against Rh-positive fetal red blood cells
94
what type of hypersensitivity reaction is HDN classes as?
type II
95
Rh positive/negative in haemolytic disease of newborn-
mother-
father-
baby-
mother rh-
father- rh+
baby- rh+
96
is coombs test positive/negative in HDN
positive
97
what is more toxic to the neonate?
unconjugated hyperbilirubinaemia
or
conjugated hyperbilirubinaemia
unconjugated- can cross blood brain barrier and cause kernicterus
98
what is phototherapy?
uv a
uv b
blue light
blue light
99
HIV treatment for children depends on CD4 count, true or false?
FALSE
WHO recommendation is for all children to receive treatment
100
At what age is the first dose of the 6-in-1 vaccine given in the UK?
8 weeks
101
What is the function of the infundibulum of the uterine tube in reproduction?
funnel-shaped part of the uterine tube that captures the ovulated oocyte from the ovary but is not the typical site of fertilisation
102
What is the role of the isthmus of the uterine tube in reproduction?
The isthmus is the narrowest part of the uterine tube near the uterus; it helps transport the fertilised egg toward the uterus but fertilisation usually doesn't occur here
103
What is the function of the ovary in reproduction?
The ovary produces and releases the oocyte (egg) during ovulation
104
Which intracellular organelle is primarily responsible for the digestion of engulfed
bacteria within the phagocytic cells?
lysosomes
105
Endoplasmic
reticulum involved in-
protein synthesis
106
________ helps
process and package proteins and lipid molecules
Golgi apparatus
107
anabolic/catabolic pathways generate ATP?
catabolic
108
_____ is our primary energy source
glucose
109
In which sub-cellular organelle are lipids produced?
smooth endoplasmic reticulum
110
The germ layers are formed during which stage of embryogenesis?
gastrulation
111
Which chemical is produced as a result of oxidation of glucose through aerobic
glycolysis?
pyruvate
112
define the term Microbiome
the genetic material associated with all the microorganisms colonising the body
113
Which antibody-type exists as a dimer in breast milk?
IgA
114
Spinal nerves arise from the spinal cord as rootlets, which converge to form
roots.
Which type of fibres do the posterior roots contain?
sensory fibres
115
Spinal nerves arise from the spinal cord as rootlets, which converge to form
roots.
what type of fibres do anterior rootlets and roots contain
motor fibres
116
where does the spinal cord usually end in infants and newborns
around L3 vertebral level
117
which phase of the cell cycle does DNA replication occur
S phase
118
Which are the resistance vessels of the cardiovascular system?
arterioles
119
What type of transport requires energy and moves substances against their concentration gradient?
active transport
120
What protein regulates progression through the cell cycle and is often mutated in cancer?
p53
121
Which phase of mitosis involves separation of sister chromatids to opposite poles by shortening of spindle fibres
anaphase
122
What phase do cells enter when they exit the cell cycle permanently (e.g., neurons)?
G0 phase
123
What enzyme is responsible for unwinding DNA during replication?
helicase
124
Which type of transport uses carrier proteins but no ATP?
Facilitated diffusion
125
What is osmosis?
passive mobile t of water across a semi-permeable membrane down its water potential gradient
126
what happens In metaphase
chromosomes align at equator
127
ig_ provides produces localised protection at mucous membranes
IgA
128
ig_ enhances phagocytosis
IgG
129
the non-coding sequences of genes are called introns/exons?
introns
130
what is the most likely organism to cause cellulitis
staph pyogenes +/- staph aureus
131
which organism is most commonly associated with necrotising fasciitis
group a strep
