Clinical Sciences Flashcards
What is the inheritance pattern for Achondroplasia?
Autosomal dominant
What gene mutation leads to Achondroplasia?
Fibroblast Growth Factor Receptor 3 (FGFR-3)
What are the clinical signs found in Achondroplasia? (5)
1) Shortened limbs
2) Macrocephaly with frontal bossing and narrow foramen magnum
3) Midface hypoplasia with flattened nasal bridge
4) Trident hands
5) Lumbar lordosis
What are the two main forms of Acute Tubular Necrosis?
1) Ischaemic ATN
2) Toxic ATN
What are the causes of toxic ATN? (4)
1) Aminoglycosides (Gentamicin)
2) Myoglobin secondary to Rhabdomyolosis
3) Radiocontrast agents
4) Lead
What can be found in the urine of patients with ATN?
Muddy brown casts
What is the inheritance mode of Alkaptonuria?
Autosomal recessive
What enzyme is lacking in Alkaptonuria?
Homogentisic Dioxygenase (HGD)
What molecule accumulates in patients with Alkaptonuria?
Homogenistic acid
What are the clinical signs of Alkaptonuria? (4)
1) Pigmented sclera
2) Black urine
3) Intervertebral disc calcification
4) Renal calculi
What is the treatment for Alkaptonuria?
1) High-dose Vitamin C
2) Dietary restriction of phenylalanine and tyrosine
What is the equation for stroke volume?
End diastolic LV volume - End systolic LV volume
What is the equation for LVEF?
(Stroke volume/End diastolic LV volume) x 100%
What is the equation for Cardiac Output?
Stroke volume x HR
What is the equation for pulse pressure?
Systolic pressure - Diastolic pressure
What is the equation for Systemic vascular resistance?
Mean arterial pressure/Cardiac output
What conditions are associated with HLA-A3? (1)
Haemachromatosis
HA3mochromatosis
What conditions are associated with HLA-B27? (4)
Ankylosing spondylitis
Reactive arthritis
Acute anterior uveitis
Psoriatic arthritis
What conditions are associated with HLA-DQ2/DQ8? (1)
Coeliac disease
CoeliaQ disease
What conditions are associated with HLA-DR2? (3)
Narcolepsy
Goodpastures
SLE
DRop off 2 sleep
DR2 and DR3 diagnosed me with SLE
What conditions are associated with HLA-DR3? (4)
Sjögrens disease
Dermatitis herpetiformis
Primary biliary cirrhosis
SLE
SjögR3ns
D3Rmatitis
C3Rrhosis
DR2 and DR3 diagnosed me with SLE
What conditions are associated with HLA-B51? (1)
Behçets disease
B(51)ehçets
What conditions are associated with HLA-DR4? (2)
T1DM
Rheumatoid Arthritis
Rheumatoid 4rthritis
List P450 enzyme inhibitors
(Think acronym)
SICKFACES.com
Sodium Valproate
Isoniazid
Cimetidine
Ketoconazole
Fluoxetine
Chloramphenicol
Erythromycin
Sulfonamides
Ciprofloxacin
Omeprazole
Metronidazole
Grapefruit Juice
List P450 inducers
(Think acronym)
CRAP GPS
Carbamazepine
Rifampicin
Alcohol (chronic abuse)
Phenytoin
Griseofulvin
Phenobarbitone
Sulphonylureas
Which part of the colon is most likely to be affected by ischaemic colitis?
Splenic flexure
What is the measure for sensitivity of a screening test?
TP/(TP+FN)
With regards to screening tests, what does sensitivity measure?
The proportion of patients with a disease who have a positive test result
What is the measure of specificity of a screening test?
TN/(TN+FP)
With regards to screening tests, what does specificity measure?
The proportion of patients without a disease who have a negative test result
What is the equation for positive predictive value of a screening test?
TP/(TP+FP)
With regards to screening tests, what does PPV measure?
The chance the patient has a disease if the test is positive
What is the equation for negative predictive value of a screening test?
TN/(TN+FN)
With regards to screening tests, what does NPV measure?
The chance a patient does not have a disease if the test is negative
What is the equation for the likelihood ratio +ve of a screening test?
Sensitivity/(1-Specificity)
With regards to screening tests, what does L.R. +ve mean?
How much does the odds of a patient having a disease increase if the test is positive
What is the equation for the likelihood ratio -ve of a screening test?
(1-Sensitivity)/Specificity
With regards to screening tests, what does L.R. -ve mean?
How much does the odds of a patient having a disease decrease if the test is negative
