Basic Sciences Flashcards
Interleukin involved in sepsis
IL1,IL6,TNF-a
IL4 - stimulates -
B cells - producing IgM and IgD at birth
IL5 - stimulates eosinophils in response to
Parasite infection
IL-8, along with other mediators such as C5a, leukotrienes B4, and bacterial products act as chemotactic factors to lead**** to the infection site.
Neutrophils
P value definition
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.
Power=
1-beta(type 2 error)
HLA DQ2 , HLA B27 ,
HLA B 27
ankylosing spondylitis
reactive arthritis
§ acute anterior uveitis
§ psoriatic arthritis
DQ2/8 - coeliac
type 1 diabetes mellitus is associated with HLA-DR3 but is more strongly associated with.
HLA-DR4
HLA-DR2
HLA-DR3
DR3
dermatitis herpetiformis
Sjogren’s syndrome
primary biliary cirrhosis
DR2
narcolepsy
Goodpasture’s
X-linked dominant
X-linked dominant fashion*:
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
G1 phase
P53 (initial phase - determines the length of the cycle)
Shortest phase in cell cycle
M phase
Ubiquitination is a post-translational modification process that tags proteins for degradation - takes place in
Proteosome
Proteins tagged with ubiquitin are recognised and degraded by the proteasome, an organelle that disassembles unneeded or damaged proteins into smaller peptides.
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.
Friedreich’s ataxia
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
Hunter’sand G6PD
hyperlipidemia type II and hypokalemic periodic paralysis
The ***** effect refers to a group changing its behaviour due to its knowledge of being studied.
Hawthorne
Which one of the following foods is the best source of folic acid?
Liver ( beef liver)
Which layer of the epidermis are melanocytes found in?
Stratum germinativum
Thickest layer in epidermis
Stratum spinous
What complement component deficiency or deficiencies are associated with SLE
C1q, C1rs, C2 and C4
C1 inhibitor protein deficiency seen in
Hereditary angioedema
An increased risk of aortic dilatation and dissection are the most serious long-term health problems for women with *****
Turner’s syndrome
ASD is more frequently encountered in **syndrome
Down
Mitral valve prolapse
Marfan syndrome
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,
There is also an increased incidence of autoimmune disease (especially autoimmune thyroiditis) and Crohn’s disease
Turner’s syndrome
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.
CATCH22 (cardiac abnormality, abnormal facies, thymic aplasia, cleft palate, hypocalcemia, chromosome 22)
Di George syndrome
Homocystinuria - give vitamin B6 (**)
Pyridoxine
***** 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
Lens dislocation in marfans (AD)
Upwards
Lens dislocation downwards + marfanoid features + Tall, long fingered, downward lens dislocation, learning difficulties, DVT
HOMOCYSTINURIA
While coeliac disease is associated with HLA-DQ2 and DQ8, it is the*** subtype that is most commonly associated with dermatitis herpetiformis.
HLA-DR3
A defect in the thick ascending loop is the cause of
Bartter syndrome
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.
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
*** 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
RRR=
ARC-ART/ARC x 100
The yellow card system is intended to report
side-effects from drugs
As the data is parametric and compares two independent sample from the same population
Unpaired t test
N1 → N2 → N3 → REM
The Sleep Doctor’s Brain
Theta → Sleep spindles/K-complexes → Delta → Beta
Renal stone associated with RTA
Calcium Phosphate
Stones formed from magnesium, ammonium and phosphate
Occur as a result of urease producing bacteria (and are thus associated with chronic infections)
Struvite stones
Most common renal stone
Calcium oxalate
Alkaline ph in urine associated with which renal stone
Struvite
Individuals with ***** syndrome are more likely to experience gastrointestinal problems such as Hirschsprung’s disease, duodenal atresia, and coeliac disease
Downs
Antimetabolites like 5-fluorouracil and methotrexate act at this stage
S denotes the synthesis phase where DNA replication occurs.
quiescent cells such as hepatocytes and more permanently resting cells such as neurons
G0
**syndrome (p53 mutation) is associated with early-onset breast cancer, sarcoma and leukaemia
Li-Fraumeni
Immune cells bind to the ***of immunoglobulins
crystallising region (Fc)
**** 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)
*** mutations in the DMD gene
nonsense
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
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
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
