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Basic Sciences Flashcards

1
Q

Interleukin involved in sepsis

A

IL1,IL6,TNF-a

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2
Q

IL4 - stimulates -

A

B cells - producing IgM and IgD at birth

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3
Q

IL5 - stimulates eosinophils in response to

A

Parasite infection

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4
Q

IL-8, along with other mediators such as C5a, leukotrienes B4, and bacterial products act as chemotactic factors to lead**** to the infection site.

A

Neutrophils

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5
Q

P value definition

A

p value is the probability of obtaining a result at least as extreme, assuming that the null hypothesis is true. This is the precise statistical definition of the p value. It represents the probability of observing data as extreme as, or more extreme than, what was actually observed, under the assumption that the null hypothesis is correct.

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6
Q

Power=

A

1-beta(type 2 error)

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7
Q

HLA DQ2 , HLA B27 ,

A

HLA B 27

ankylosing spondylitis
reactive arthritis
§ acute anterior uveitis
§ psoriatic arthritis

DQ2/8 - coeliac

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8
Q

type 1 diabetes mellitus is associated with HLA-DR3 but is more strongly associated with.

A

HLA-DR4

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9
Q

HLA-DR2

HLA-DR3

A

DR3
dermatitis herpetiformis
Sjogren’s syndrome
primary biliary cirrhosis

DR2
narcolepsy
Goodpasture’s

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10
Q

X-linked dominant

X-linked dominant fashion*:

A

Alport’s syndrome (in around 85% of cases - 10-15% of cases are inherited in an autosomal recessive fashion with rare autosomal dominant variants existing)
Rett syndrome
Vitamin D resistant rickets

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11
Q

G1 phase

A

P53 (initial phase - determines the length of the cycle)

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12
Q

Shortest phase in cell cycle

A

M phase

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13
Q

Ubiquitination is a post-translational modification process that tags proteins for degradation - takes place in

A

Proteosome

Proteins tagged with ubiquitin are recognised and degraded by the proteasome, an organelle that disassembles unneeded or damaged proteins into smaller peptides.

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14
Q

An 18-year-old man presents with increasing difficulty walking. On examination, there is bilateral pes cavus, ataxic gait, nystagmus, diffuse leg muscle wasting, absent lower limb reflexes and bilateral upgoing plantars. His walking difficulty has been getting progressively worse since he was 14 years old.

He states his cousin had similar difficulties walking, had heart failure and died in his 30s suddenly. The patient is currently seeing a cardiologist for an investigation into hypertrophic cardiomyopathy. Both his parents are fit-and-well.

A

Friedreich’s ataxia

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15
Q

Autosomal recessive conditions are often thought to be ‘metabolic’ as opposed to autosomal dominant conditions being ‘structural’, notable exceptions:
some ‘metabolic’ conditions such as***** are X-linked recessive whilst others such as######## are autosomal dominant
some ‘structural’ conditions such as ataxia telangiectasia and Friedreich’s ataxia are autosomal recessive

A

Hunter’sand G6PD

hyperlipidemia type II and hypokalemic periodic paralysis

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16
Q

The ***** effect refers to a group changing its behaviour due to its knowledge of being studied.

A

Hawthorne

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17
Q

Which one of the following foods is the best source of folic acid?

A

Liver ( beef liver)

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18
Q

Which layer of the epidermis are melanocytes found in?

A

Stratum germinativum

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19
Q

Thickest layer in epidermis

A

Stratum spinous

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20
Q

What complement component deficiency or deficiencies are associated with SLE

A

C1q, C1rs, C2 and C4

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21
Q

C1 inhibitor protein deficiency seen in

A

Hereditary angioedema

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22
Q

An increased risk of aortic dilatation and dissection are the most serious long-term health problems for women with *****

A

Turner’s syndrome

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23
Q

ASD is more frequently encountered in **syndrome

A

Down

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24
Q

Mitral valve prolapse

A

Marfan syndrome

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25
Pulmonary valve stenosis should be considered in individuals exhibiting features such as short stature, ptosis, and hypertelorism suggestive of ****along with symptoms like fatigue and breathlessness.
Noonan syndrome,
26
There is also an increased incidence of autoimmune disease (especially autoimmune thyroiditis) and Crohn's disease
Turner’s syndrome
27
This statistical test is used to measure ordinal, interval or ratio scales of unpaired data. An example of an ordinal variable is Likert items e.g. a 5 point scale in this case.
Mann-Whitney U test is the correct answer.
28
CATCH22 (cardiac abnormality, abnormal facies, thymic aplasia, cleft palate, hypocalcemia, chromosome 22)
Di George syndrome
29
Homocystinuria - give vitamin B6 (****)
Pyridoxine
30
***** is a non-selective endothelin antagonist. Endothelin causes pulmonary vasoconstriction and therefore antagonists can be used to treat pulmonary hypertension. It can be associated with abnormalities in liver function tests (LFTs) and so regular LFTs are needed during treatment.
Bosentan
31
Lens dislocation in marfans (AD)
Upwards
32
Lens dislocation downwards + marfanoid features + Tall, long fingered, downward lens dislocation, learning difficulties, DVT
HOMOCYSTINURIA
33
While coeliac disease is associated with HLA-DQ2 and DQ8, it is the******* subtype that is most commonly associated with dermatitis herpetiformis.
HLA-DR3
34
A defect in the thick ascending loop is the cause of
Bartter syndrome
35
The collecting duct system of the kidneys is the final portion of the nephron and is important for water and sodium reabsorption. They are the site of action for
antidiuretic hormone.
36
The distal convoluted tubule plays an important part in sodium, potassium and calcium regulation. It is known as the area of action of thiazide diuretics and is the area of error in.
Gitelman syndrome
37
******* is a disorder of inadequate reabsorption in the proximal convoluted tubules of the kidneys. This commonly presents with hypophosphataemia as well as hyperchloraemia metabolic acidosis, hypokalaemia, and hypocalcaemia.
Fanconi syndrome
38
RRR=
ARC-ART/ARC x 100
39
The yellow card system is intended to report
side-effects from drugs
40
As the data is parametric and compares two independent sample from the same population
Unpaired t test
41
N1 → N2 → N3 → REM The Sleep Doctor's Brain
Theta → Sleep spindles/K-complexes → Delta → Beta
42
Renal stone associated with RTA
Calcium Phosphate
43
Stones formed from magnesium, ammonium and phosphate Occur as a result of urease producing bacteria (and are thus associated with chronic infections)
Struvite stones
44
Most common renal stone
Calcium oxalate
45
Alkaline ph in urine associated with which renal stone
Struvite
46
Individuals with ***** syndrome are more likely to experience gastrointestinal problems such as Hirschsprung's disease, duodenal atresia, and coeliac disease
Downs
47
Antimetabolites like 5-fluorouracil and methotrexate act at this stage
S denotes the synthesis phase where DNA replication occurs.
48
quiescent cells such as hepatocytes and more permanently resting cells such as neurons
G0
49
********syndrome (p53 mutation) is associated with early-onset breast cancer, sarcoma and leukaemia
Li-Fraumeni
50
Immune cells bind to the *******of immunoglobulins
crystallising region (Fc)
51
****** is similar to relative risk but is used when risk is not constant to time. It is typically used when analysing survival over time.
Hazard ratio The hazard ratio (HR)
52
******* mutations in the DMD gene
nonsense
53
Trinucleotide repeat expansion is type of mutation involves the pathological amplification of repetitive nucleotide sequences, such as in
Huntington’s disease or Fragile X syndrome
54
a hereditary disorder marked by deficient activity of the branched-chain alpha-ketoacid dehydrogenase enzyme complex. This condition typically presents with neurological symptoms and metabolic acidosis during infancy
maple syrup urine disease
55
prolonged alcohol consumption may lead to demyelinating conditions like central pontine myelinolysis or peripheral neuropathy as a result of nutritional deficiencies. However, demyelination typically manifests with symptoms such as
motor weakness, spasticity or dysarthria
56
Skewed distributions alphabetical order: mean - median - mode '>' for positive, '<' for negative
57
Trinucleotide repeat disorders
Fragile X (CGG) Huntington's (CAG) myotonic dystrophy (CTG) Friedreich's ataxia* (GAA) spinocerebellar ataxia spinobulbar muscular atrophy dentatorubral pallidoluysian atrophy
58
Sepsis triggers the release of IL-1 causing vasodilation →
hypotension
59
IL-2 increases the growth and activity of T lymphocytes and B lymphocytes and affects the development of the immune system.
IL-3 regulates the growth and differentiation of hematopoietic progenitor cells and functionally activates mature neutrophils or macrophages.
60
IL-4 has an important role in regulating antibody production, hematopoiesis and inflammation, and the development of effector T-cell responses.
Interleukin-5 acts only on eosinophils and basophils, upon which it causes maturation, growth, activation, and survival.
61
A 17-year-old man attends the clinic in a wheelchair. On examination, you note pes cavus, and scoliosis. On neurological exam, there is an increased tone in all limbs, pyramidal weakness, upgoing plantars and clonus. Ankle and knee reflexes are absent. There is a loss of vibration and joint position sense to the knees. You also note past pointing, intention tremor, dysarthria, and ataxia. A cardiac pacemaker is also visible.
Friedreich's ataxia
62
*** disease typically presents with developmental delay and cherry red spot on the macula, without hepatomegaly or splenomegaly
Tay-Sachs
63
Human papillomavirus 16/18 is a risk factor for
oropharyngeal cancer
64
Human herpes virus 8 is an oncovirus that predisposes immunocompromised patients to
Kaposi's sarcoma.
65
Standard error of the mean =
standard deviation / square root (number of patients) The SEM is a measure of the precision of the sample mean and tells us how far the sample mean is likely to be from the true population mean.
66
67
A fall in the partial pressure of oxygen in the blood leads to vasoconstriction of the pulmonary arteries. This allows blood to be diverted to better aerated areas of the lung and improves the efficiency of gaseous exchange
68
****** mediate hyperacute organ rejection
B cells
69
The thin ascending limb of the loop of Henle is impermeable to water
70
Interferon-γ is responsible for activating macrophages
Adult onset stills disease
71
Lesch-Nyhan syndrome causing hyperuricemia is genetically inherited in an
X-linked recessive pattern
72
X-linked recessive conditions
Androgen insensitivity syndrome Becker muscular dystrophy Colour blindness Duchenne muscular dystrophy Fabry's disease G6PD deficiency Haemophilia A,B Hunter's disease Lesch-Nyhan syndrome Nephrogenic diabetes insipidus Ocular albinism Retinitis pigmentosa Wiskott-Aldrich syndrome
73
A 35-year-old male presents to the clinic with bilateral pitting oedema, lower limb pain and tingling in both arms. On examination, tiny, painless papules were noticed on his abdomen and a whorl-like corneal pattern of cream-coloured lines in the patient's cornea. He has no significant past medical history.
Fabrys disease X-linked recessive disorder characterised by abnormal deposits of a particular fatty substance called globotriaosylceramide in blood vessel walls throughout the body. The primary defect which allows this to occur is the inherited deficiency of the enzyme, alpha-galactosidase A, which is normally responsible for the breakdown of globotriaosylceramide. This abnormal accumulation of fatty substance results in the narrowing of blood vessels and a whole range of symptoms and signs which include: Limb pain Sensory neuropathy Raynaud's disease Cardiac arrhythmias, cardiomyopathy Nephrotic syndrome Dermatological manifestation; angiokeratomas, anhidrosis, cornea verticillata
74
Ligand gated receptors
nicotinic acetylcholine receptors, GABA receptors, and glutamate receptors
75
Intracellular receptor
steroid hormones, thyroid hormones, and vitamin D.
76
Tyrosine kinase receptors
insulin receptors and growth factor receptors
77
same group people before (paired) and after intervention : Wilcoxon different group of people (unpaired) and to assess % or proportion : Chi square different group of people (unpaired) and ordinal/interval/ratio : Man Whitney
78
CATCH 22
Di George syndrome C - Cardiac abnormalities A - Abnormal facies T - Thymic aplasia C - Cleft palate H - Hypocalcaemia/ hypoparathyroidism 22 - Caused by chromosome 22 deletion
79
Relative risk
Incidence in the exposed group/ Incidence in the control group If the risk ratio is > 1 then the rate of an event (in this case experiencing significant pain relief) is increased compared to controls. It is therefore appropriate to calculate the relative risk increase if necessary (see below). If the risk ratio is < 1 then the rate of an event is decreased compared to controls. The relative risk reduction should therefore be calculated (see below).
80
Relative risk reduction / Relative risk increase
Incidence in Control - Incidence in Test/ Incidence in Control EER- CER/CER
81
82
Front
Back
83
Cytokine: IL-1
Source: Macrophages Function: Fever, inflammation, key in RA
84
Cytokine: IL-2
Source: Th1 cells Function: Stimulates T cell growth and activation
85
Cytokine: IL-3
Source: Activated T cells Function: Stimulates blood cell production (myeloid line)
86
Cytokine: IL-4
Source: Th2 cells Function: B cell activation, promotes IgE production (allergy)
87
Cytokine: IL-5
Source: Th2 cells Function: Eosinophil activation (asthma, parasites)
88
Cytokine: IL-6
Source: Macrophages, Th2 cells Function: Fever, B cell differentiation (RA)
89
Cytokine: IL-8
Source: Macrophages Function: Neutrophil chemotaxis
90
Cytokine: IL-10
Source: Th2 cells Function: Anti-inflammatory, inhibits Th1 response
91
Cytokine: IL-12
Source: Dendritic cells, macrophages Function: Activates NK cells, promotes Th1 response
92
Cytokine: TNF-α
Source: Macrophages Function: Fever, neutrophil activation, key in RA
93
Cytokine: IFN-γ
Source: Th1 cells Function: Activates macrophages, key in TB/sarcoidosis
94
Oncogene: c-MYC
Function: Transcription factor Cancer: Burkitt's lymphoma (t(8:14))
95
Oncogene: n-MYC
Function: Transcription factor Cancer: Neuroblastoma
96
Oncogene: ABL
Function: Cytoplasmic tyrosine kinase Cancer: Chronic myeloid leukaemia (via BCR-ABL)
97
Oncogene: BCL-2
Function: Apoptosis regulator Cancer: Follicular lymphoma (t(14:18))
98
Oncogene: RET
Function: Tyrosine kinase receptor Cancer: MEN types II and III
99
Oncogene: RAS
Function: G-protein signal transduction Cancer: Many cancers, especially pancreatic
100
Oncogene: erb-B2 (HER2/neu)
Function: Tyrosine kinase receptor Cancer: Breast and ovarian cancer
101
A synonymous mutation is a single base change that does not alter the amino acid (as in silent mutations).
However, a synonymous mutation does cause other changes in downstream processing (transcription, splicing, translation) or phenotype of the gene. Phenylketonuria and von Hippel-Lindau disease are examples of conditions that can be caused by this type of mutation.
102
A silent mutation describes a single base mutation where the amino acid does not alter despite the altered codon - for example, both codons UGU and UGC code for cysteine.
This property of the genetic code that multiple codons can code for the same amino acid is termed 'degeneracy'.
103
Duchenne muscular dystrophy is an example of a condition that can be caused by
Frame shift mutation
104
Nitric oxide - vasodilation + inhibits platelet aggregation
NO activates guanylyl cyclase in vascular smooth muscle cells, increasing cyclic guanosine monophosphate (cGMP) levels. This reduces intracellular calcium, leading to the relaxation of vascular smooth muscle and subsequent vasodilation.
105
Apple-green birefringence under polarised light is seen in renal biopsy in
amyloidosis
106
Enlarged and hypercellular glomeruli is seen in
acute post-streptococcal glomerulonephritis
107
Crescent moon shaped glomeruli is seen in
rapidly progressive (crescentic) glomerulonephritis.
108
Diabetic nephropathy histological findings-
Kimmelstiel-Wilson lesions, nodular glomerulosclerosis
109
Wire looping of capillaries in the glomeruli is seen in
diffuse proliferative glomerulonephritis (often due to SLE).
110
The HLA-DRB1 gene
is the major genetic susceptibility locus for rheumatoid arthritis (DRB1*04:01 and DRB1*04:04 hence the association with DR4)
110
Beta glucosidase deficiency
Gauchers disease
111
Deficiency of galactose-1-phosphate uridyltransferase
Galactosemia
112
Deficiency of hexosaminidase A
Tay-Sachs disease, characterised by developmental regression and a cherry-red spot on the retina, with severe neurological decline, particularly in infants.

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