Clinical sciences round 2 Flashcards
Key electrolyte abnormality in ethylene glycol poisoning
HypoCa
[Will also have a metabolic acidosis]
Methanol vs ethylene glycol - what is the toxic acid formed
Methanol - formic acid
Ethylene glycol - oxalic acid
Which Ig activates complement via classical pathway? Alternate?
Classical - IgM, IgG
Alternate - IgA does Alternate
Isolated bilirubinaemia and doesn’t appear in urine. Not given un/conjugated levels. Dx?
Gilberts
[Congugated Eg rotor and Dubin-johnson have conjugated -> appears in urine]
Where does bilirubin get congugated? By what? Inheritence? basic pathology of Gilbers vs Criggler Nijjar vs Dubin vs rotor
Liver
Uridine Glucuronyl transferase - UGT
[The whole name is longer. ]
All R Resessive
Gilberts - immature UGT so get increased unconjugated bilirubin after stress Eg flu / hiking
G=good
Criggler - Absent UGT
C= cancelled UGT
Dubin - Cant excrete the conjugated bilirubin. Builds up in liver = Dark liver
D-Dark liver
Rotor - mild form of Dubin = conjugated bilirubinaemia but some excreted so don’t get the dark liver
Why do you encapsulate stem cells used for various therapies
Prevent autoimmune attack
Why do you encapsulate stem cells used for various therapies
Prevent autoimmune attack
Winging of the scapular. Which nerve is affected?
Long thoracic nerve
How does botulism toxin work?
Prevents release of Ach at the neuromuscular junction
[Produced from Type A neurotoxin]
Phase 3 of action potential has closure of what channels
Calcium
Classes of antiarrhythmic
Some Block Potassium Channels
Sodium channel blockers (class I)
- Procainamide, Lidocaine, flecanide
Beta-blockers (class II)
Potassium channel blockers (class III)
-Amiodarone, sotalol
Calcium channel blockers (class IV)
Which B blockers also block A adreoreceptors
Carvedilol (-ilol)
Labetalol (-alol)
[They don’t end in -olol]
what % white people carry CFTR gene? What chromosome
5%
Chromosome 7
Precursor to cortisol
11-deoxycortisol
Anti-b2 glycoprotein found in
Antiphospholipid syndrome
Dehydrated with hypoNa and high urinary Na =
Adrenal failure
How much pred matches a 75kg persons normal glucocorticoid production daily
7.5mg
Congenital long QT is defect in which channel? 1 line rx for prevention of recurrence of Tachyarrythmias
Potassium
B blockers - reduce VT recurrence by 70%
-May need ICD
Endothelin primarily does what in kidney?
Effect on RASS?
A vs B?
Afferent vasoconstriction
Stimulates RASS
A- constriction
B - NO mediated vasodilation
On BB, ACEi, thiazide and has low K. What’s the most likely cause of hypoK
Thiazide diuretic
[Conns is actually very rare]
most common assoc of anti-Ro
Sjorgren
Anti Ro and La
What stimulates ANP? What does it do?
Responds to increased blood volume
-Atrial stretch stimulates
-> Dilates afferent, constricts efferent
-> increases GFR + salt and water excretion
Males vs females measuring plasma concentrations of drug 2hrs after ingestion test?
Log regression analysis
Blood results in osteomalacia?
Low Ca -> high PTH -> Low PO4
Raised ALP
Low Vit D
Why do you get Na and water retention in an overloaded cirrhotic patient (ascites / effusions….)
Arterial underfilling.
Due to:
-Arterial vasodilation secondary to NO
-Low albumin and oncotic pressure
What is nominal data
Categorical with no indication of order
Eg Hot / cold
How many genes do we have
20,000
C peptide in insulin vs gliclazide abuse
Insulin - Low
Gliclazide - high
AST/ALT when do you start to think its alcohol-related?
AST : ALT ratio >2
Can you do a crossover trial with a dmard
no because it permanently alters the disease process
T1DM is islet cell antibodies. What else is seen in accelerated B cell failure
Anti-ZnT8
Starts COCP -> Weakness in legs, vomiting, abdo pain. Why?
Acute intermittent porphyria
dominant inheritance
[oestrogen is a trigger]
Compare binary outcomes between groups
Chi 2
highest resolution of 3D structure of a protein? How the protein changes over time?
x-ray crystallography
Dual polarisation interferometry for how it changes over time
Given data on mean change (in Eg weight) for 2 groups. What test?
Independent samples t-test
test to work out if an increased number of infections results in earlier graft failure
Spearman’s correlation
Takes the number of infections and then ranks people in order of time to graft failure…
Why do you not get renal disease in Waldenstrom’s macroglobulinaemia
Isolated IgM
No light chains = no renal disease
As only IgM tends to present with sx of hyperviscosity
What do prostaglandins bind to?
How are they affected by COX?
G coupled receptors
COX stimulates synthesis
->Aspirin/NSAIDs inhibit
Which diuretic can be used for Rx of metabolic alkalosis
Acetazolomide
What is the most important analysis of efficacy
Intention to treat
why do old people have a wider pulse pressure
Decreased aortic compliance
Which class of diuretics on sodium-chloride symporter
Which on Sodium-chloride-potassium
Thiazide
Loop
Central scotoma = lesion where
optic nerve
Often due to HTN / MS
Which 2 things in overdose classically cause a respiratory alkalosis at first?
Salicylates
Theophyline
SLE classic inflam markers in active disease
++ raised ESR
only modest rise in CRP
Lymphopenia
Mild thrombocytopenia
How much of the livers blood flow is from the portal vein? What is its pressure? Pressure for portal HTN?
75%
5-8mmHg
>12
Signet ring cells seen in?
Gastric adenocarcinoma
[poor prognosis]
Loss of sensation of lateral dorsum of foot. Plantar of foot. Loss of plantar flexion / Ankle eversion nerve root?
S1
Loss of power of hallux extension
L1
L1-S2 dermatomes
L1: the inguinal region and the very top of the medial thigh.
L2: the middle and lateral aspect of the anterior thigh.
L3: the medial epicondyle of the femur.
L4: the medial malleolus.
L5: the dorsum of the foot at the third metatarsophalangeal joint.
S1: the lateral aspect of the calcaneus.
Myotomes
C4-8
C4: shoulder shrugs
C5: shoulder abduction and external rotation; elbow flexion
C6: elbow flexion
C7: elbow extension and wrist flexion
C8: thumb extension and finger flexion
Myotome T1
T1: finger abduction
Myotomes
L1-5
L1/2: hip flexion
L3: knee extension
L4: ankle dorsiflexion
L5: big toe extension
Myotomes S1/S4
S1: ankle plantarflexion
S4: bladder and rectum motor supply
Where is the Golgi apparatus found?
Adjacent to the endoplasmic reticulum
3 thigs making up wiskott-aldrich syndrome
Immunodeficiency, eczema and thrombocytopenia
What stimulates growth hormone
Exercise
Hypoglycaemia
Stress- emotion, fever, illness
Adaptive immunity to EBV is from…
T lymphocytes
How to diagnose orthostatic proteinuria? Why is it useful to do so
Urine sample for protein when the patient has been lying flat for a period Eg straight from bed
Benign condition that does not need investigated
Anaesthesia -> anaphylaxis. What’s the likely culprit
Paralysis agent in 70%
Familial hypercholesterolaemia is due to mutations in the gene coding for?
LDL receptor
Posterior gastric ulcer erodes into which artery?
Splenic
2 things leptin does
Stimulates hypothalamus to tell you
-You are full
-Stimulates GnRh
What is an azygous lobe? Where would you see it? What causes it to form?
-normal variant found in 0.5%
-Extra bit in RUL
-‘reverse comma sign behind medial right clavicle on cxr’
Formed due to failure of the posterior cardinal vein fails to migrate over the apex
What is the early asthma response and which cells? How long does it last?
Exposure to antigen
-> mast cell degranulation [FceRI reeptors] in response to IgE already produced by B cells
-> Bronchconstriction peaking at 20 minutes and lasts for 1-2hours
key cells in late stage of asthma and what happens?
Occurs after 3-5 hours and lasts for 6-8 hours
Attraction of phagocytes
Eosinophils attracted (IL-13) by lymphocytes
CLL is a disorder of….
B lymphocytes
What is a nominal variable
Categories that have no obvious order
Eg Sex / Ethnicity
What is an ordinal variable
Ordered categories
Eg how satisfied were you
a) not at all b) somewhat c) Very
Macrophages Recognise a couple fixed and the 2 ‘wandering’
Fixed
-Kupfer
-Microglial
-Mesangial
-Osteoclasts
Wandering
-Macrophages of the serosal cavities (Pleura, pericardium, peritoneum)
-Alveolar macrophages
ARR of 11%. What is the NNT
10
1/0.11 = 9.09 but you always round up to the next whole number in NNT calculations
What enzyme causes gouty tophi formation
Xanthine oxidase
25% chance of carrying the disease. If 12 people picked from the population how would you describe the distribution
Binomial with n =12, p = 0.25
Binomial is the number of times an event can occur with fixed number of opportunities
Bar ACEi and ARBs which are other med causes angioedema
Moxonidine (centrally acting antihypertensive)
what are the main acid-base buffers in the blood
Bicarbonate - carbonic acid
Haemoglobin
Phosphate
Proteins in blood
What synthesises phosphodiester bonds
DNA ligase
40s difficulty climbing stairs and struggling with eating. Heritability with only men affected
Kennedy disease
X-linked spinobulbar neuronopathy
What is no longer recommended for anaphylaxis
Hydrocortisone
Most important Management for biphasic allergic reactions
Minimum 6 hours observation
When is T test paired or not
Unpaired - comparing means between 2 independent groups
Eg in an RTC
Paired - Compares means in dependent groups
Compare means in 2 unrelated groups
Unpaired Ttest
C1q deficiency leads to
SLE
IVDU which cryoglobulinaemia do they have?
HepC
Type 2
Defects in Fibrilin, collagen III, IV and V cause?
Fibrilin - Marfans
III - Vascular Ehlers-danlos
IV - alports
V - classical Ehlers-danlos
Where is glucagon produced, what does it do?
Pancreatic alpha cells
-> Gluconeogenesis, glycogenolysis
VWD is what inheritance? What is the chances of offspring having the disease if both patients affected?
AD
75%
Albumin levels measured on admission and after 3 weeks hospital stay. What test?
Paired T test
Macular has rods or cones? What is central part called?
Cones
Fovea centralis
How to calculate clearance of a drug when given plasma / urine concentrations and urine produced
(UxV)/p
U = Urine concentration in Mg/ml
V = Volume of urine produced Ml/Minute
P = Plasma concentration in mg/ml
Given 220mg of drug, then measured
Plasma conc = 15mg/L
urine conc = 150mg/L
Made 1440mls urine in a day
What is clearance
(UxV)/p
Uine conc= 150mg/L = 0.15mg/ml
Volume urine / min = 1ml/min
Plasma conc = 15mg/L = 0.015 mg/ml
= (0.15x1)/0.015 = 10ml/min
Why is insulin resistance a pro coagulable state
Get increased levels of plasminogen activator inhibitor -1
(PAI-1)
Which is pro coagulable
22 year old with recurrent chest infections and raised glucose has?
Cystic fibrosis
Iron overdose Rx
IV desferrioxamine
Mycophenolate works how
Blocks purine synthesis
Inhibits inosine monophosphate dehydrogenase
Sirolimus works how?
Inhibits IL-2 via action on mTOR
Differentiate HNPCC
FAP
Gardener
Cowden
Peutz-jeghur
HNPCC - multiple fam members get colorectal Ca
FAP - 100s-1000s polyps
Gardener - Colorectal ca but also
Dental abnormalities, osteomas of skull, epidermoid cysts
Cowden - Multiple harmatous polyps
Peutz-jeghur - Multiple harmatous polyps and peri-oral pigmentation
Why do old people get heatstroke so much
Decreased ability to sweat
How do you work out post-test odds
Pre-test odds x positive likelihood ratio
Wilsons gene/chromosome what does it mean?
ATP7B, chromosome 13
Recessive
Impaired biliary excretion of copper
Prominent V waves =
Tricuspid regurg
Pulm regurg auscultation
Early diastolic murmur
Define types of mutation
Miss sense
Non Sense
Insertion
Frame shift
Miss sense - converts a codon for one protein into a codon for another
Non sense - Alteration in neucletide sequence that changes a triplet to a termination codon
Insertion - Inserts 1 or more nucleotides
Frame shift - Group of nucleotides (more than 3)
Inferior alveolar nerve supplies? What is it from?
mandibular branch of trigeminal
-> Sensation to lower lip and teeth
What is pseudodominant inheritance
Very high carrier rates of Ressessive conditions -> almost appears dominant
Eg hemochromatosis in northern europue
New study comparing angioplasty to surgical Rx of angina. What is most useful when comparing to other studies ?
Intention to treat analysis
What are the class II HLAs
DR
DQ
DP
Oxygen dissociation curve. What does shift to Left / right mean?
which way does acidosis / alkalosis
Rise in temp
Rise in co2
Rise in HCO3
Rise in 2,3-DPG
Shift left - Impairs oxygen delivery to tissues (increased affinity)
-Increased pH, Rise in HCO3
Shift Right - Increased oxygen delivery to tissues [right thing to do]
-Acidosis, rise in temp, rise in 2,3-dpg
[More h+, more temp, rise in dpg,]
Diagnosis of myotonic dystrophy
Genetic testing
CTG repeat >50 times in DMPK gene
Double-blind trial for new drug, ordinal scale (rating 1-3 for pain) what test
Man-whitney
Most common cause of constipation in enteral feeding?
Inadequate fluids
What kills people with turners syndrome the most
Ruptured thoracic aneurysm
What kills people with turners syndrome the most
Ruptured thoracic aneurysm
Most common cause of HyperCa
Primary HyperPTH
HyperCa ECG
Notching of QRS
Narrow QT
What are p1 receptors
G protein coupled receptors bound by adenosine
-> Eosinophil apoptosis
[essentially to put a break on activated immune system]
Patch vs skin prick testing used when?
Patch - contact dermatitis
Prick - IgE mediated anaphylaxis
Patch vs skin prick testing used when?
Patch - contact dermatitis
Prick - IgE mediated anaphylaxis
Calorie requirement per day in severe injury
35-40 kcal/kg/day
Transydate vs exudate ascites
Transudative ascites occurs when a patient’s SAAG level is greater than or equal to 1.1 g/dL (portal hypertension).
Exudative ascites occurs when patients have SAAG levels lower than 1.1 g/dL.
Pseudohyperparathyroidism - what will PTH/calcium/PO4 be?
Normal but is “resistant” to its effect.
This causeslow blood calcium levelsand high blood phosphate levels.
Anal incontinence - assess sphincter structure / function
Structure - US scan
Function - Manometry
Where would you find asteroid bodies
Sarcoid gramulomas most commonly
Nutcracker oesopagus also called
Hypertensive peristalsis - Increased amplitude contractions
What is the function of BRCA1 usually
DNA repair
What is an allele
One form of gene
How would you check for an antibody deficiency in someone who gets recurrent bacterial chest infections
Check specific pneumococcus / Haemophilus antibodies.
Simply checking serum Ig’s no good - often normal even if unable to create an adequate response and very non-specific…
Appears to have allergic reaction when wears latex gloves - how to test?
Skin prick testing
-It is an allergy not contact dermatitis
[If contact dermatitis - Patch testing]
What is RAST testing
Test for specific IgE antibodies that a patient may be allergic to
Which hormone makes you feel hungry? Full?
Ghrelin
Leptin - full
ST elevation in v5-6, I, AVL. What would make you say anterior lateral and what just lateral
v4 = anterolateral
Otherwise would be high lateral
Tay-sachs common in which population? is due to? what does this mean? Usual presentation?
If presents later what is common sign?
Blood test?
Ashkenazi jews
[Another lipid motabolism like gauchers]
GM2 Ganglioside build-up which leads to increased lysosomal hydrolysis
Children develop normally and then regress and die
Can present in 20-30s if mild form with ‘cherry red’ spot in eye
Test for beta-hexosaminidase A activity
Which Ig most present in secretions and provides protection against viruses at mucosal surfaces
IgA
Which cells in the innate immune system
Monocytes, neutrophils, mast cells, complement, phagocytes (macrophages)
Which cells recognise an antigenic motif using toll-like receptors? What is this called and then what happens?
Phagocytes (macrophages) recognise a PAMP which stimulates:
-Chemokine release - increase adhesions
-Cytokine release - attract other immune cells
-Complement release - kill
Which cells recognise an antigenic motif using toll-like receptors? What is this called and then what happens?
Phagocytes (macrophages) recognise a PAMP which stimulates:
-Chemokine release - increase adhesions
-Cytokine release - attract other immune cells
-Complement release - kill
What are the two parts of the adaptive immune system and basics of each? Which cells?
Humoural - mediated by B lymphocytes
-Circulating in body fluids to detect pathogens
[Pathogens can evade humoral system by hiding within cells]
Cellular
Cells use HLA presentation system (chrome 6 in MHC region] to present their contents to T-cells who identify if foreign
Wierd use for BCG
intra vesical for Rx of bladder Ca in situ
What is thing in G6PD
Glucose-6-phosphate dehydrogenase
C5 deficiency leads to
Gram -ve sepsis
C3 deficiency leads to
Overwhelming infection from encapsulated organisms
-Mab to C5? Used for?
Eculizumab
Paroxysmal nocturnal Haemoglobinuria
Gal presents with loss of fat -> defined upper arms and facial muscles? Usually follows? What is low/raised?
Acquired lipodystrophy often following an Infection - usually viral
Low levels C3, raised nephritic factor
The external part of the neurone has what charge at rest
Positive
[Think of sodium influx]
Why do people with ileostomies get hypoCa ?
Loss of Mg though ileostomy
HypoMg-> impairs PTH
->Hypo Ca
[Ca absorption is mostly in duodenum so it is not due to simple malabsorption of Ca]
High LDL with normal Triglycerides =
When would you expect the other form of this
Heterozygous hypercholesterolaemia
Homozygous if cholesterol >12 and very early MI
High Triglycerides with normal LDL
Heterozygous hypertriglyceridaemia
Multiple relapses of nephrotic syndrome Rx long term
Cyclophosphamide
Which hypersensitivity if rash few hours after latex gloves
Type 4
[Hives / urticarial rash immediately would be type 1]
Develops lupus early - due to which deficiency
C4 [or C1 / C2]
Which cells produce TNFa
Macrophages
[eosinophils produce a little bit]
Correlation coefficients range from
-1 to 1
Gold standard Dx of pemphigoid
Peri-lesional skin biopsy for examination with immunofluorescence
Diabetes + sensory neural deafness in which syndrome? Inheritance?
DIDMOAD
Recessive
Where does RNA splicing occur
Nucleus
What happening if exercise -> pain in muscles but a paradoxical decrease in lactate at this time?
Deficient in?
Inadequate muscle glycogenolysis
[McArdle disease due to deficiency of muscle phosphorylase]
Which ig deficiency in coeliac
IgA
What is usual location of actin
Cytoskeleton
Which nerve commonly affected by humerus fractures? Seonsory / motor Sx?
Radial
Loss of sensation to dorsal forearm
Forearm extension, finger extension
Weakness of elbow flexion and supination. Sensory loss of lateral forearm. Nerve name?
Musculocutaneous
VHL and MEN2a differentiate based on renal Cancers
Both risk phaeo
Only VHL increased renal cell carcinoma
What is post-marketing survellience used for
Adverse effect profile
Comparing means between 2 groups with skewed data
Mann-whitney-U test
A condition which affects males and females but males by much more has which pattern of inheritance
X linked dominant
which antibody has highest negative predictive value in SLE
Negative ANA
What has more energy per gram LDL or triglyceride
Triglyceride
[LDLipoprotein] - has protein in it so less energy]
Imatinib in which GI tumour
GIST
Churg straus antibody
Myeloperoxidase (in 50%)
Major crieterion (non-skeletal) for marfans
ectopia lentis
aortic root dilation/dissection
dural ectasia
Tall, Hypermobile joints with very blue eyes, easy bruising and only moderate skin elasticity
Hypermobility Elhers danlos
[Classical has very elastic skin]
Hereditory haemochromatosis chromosome
6
What does the tetanus and botox toxin do
Cleaves parts of VAMP (Synaptobrevin)
Accident involving being suspended from arm now weakness of intrinsic muscles of hand and long extensor muscles of fingers = damage where
C8,T1
Rx of acute hypoNa <48hrs with symptoms
Hypertonic Na
Valine substitution of position 6 of the b-globin chain in?
Sickle cell
Periodic fever in which Ig excess
IgD
long distance running uses what for energy
Fatty acid oxidation
Investigation of Friedrich’s ataxia or other trinucleotide repeat disorders?
TP-PCR
[Triplet-repeat Primed- PCR]
Optimum Rx of acute hereditary angioedema with laryngeal oedema
C1 inhibitor concentrate
Prolonged history pain and neck. Weak abductor pollis brevis =
Cervical rib
[specifically involves C8/T1 root]
Plotting baseline data from a trial including height, weight and BP. Best way to plot it?
Box and whisker
Hypoxia effect on pulm vessles
Constrict -> allows blood to be directed towards areas of lung with higher o2 levels
-Improves V/Q ratio
Ochronosis another name for?
alkaptonuria
[homogenistic acid oxidase deficiency]
digoxin toxicity. Enzyme abnormality that needs correcting
HypoK
IgG 1-3 subclass deficiency leads to
1 - general immunodeficiency
2 - Recurrent polysaccharide coated eg H influenza
3 - Chronic sinusitis
Recurrent laryngeal damage leads to horse voice why
posterior cricoarytenoid muscle paralysis
Hyperacute rejection HLA
HLA- C
IgG
Hypophosphataemic rickets inheritance
X linked dominant
1st drug rx for acute intermittent porphyria acute attack
Haem arginate
Power of study is for
Probability of correctly rejecting the null hypothesis
HOCM which mutationmost common? if 16 year old collapses?
Myosin binding protein C - Slightly older [this one is more common overall]
B-myosin heavy chain - young with pronounced septal hypertrophy
Why hyperCa in sarcoid
Increased 1,25 vit D
Where is troponin found
Adjacent to thin filaments
C1 esterase deficiency vs anaphylaxis in q
No urticaria / hives in c1 esterase
Pyruvate kinase is the rate-limiting step in
Glycolysis and gluconeogenesis
Second line rx for SLE but worried about neutropenia
Mycophenolate
[inhibits purines and so selectively inhibits activated B and T lymphocytes]
In a cell what is the function of lysosomes?
Peroxisomes?
Lyso - breakdown biological polymers Eg polypeptides
Perox - breakdown long chain fatty acids for use by the mitochondria
In a cell what is the function of
Ribosomes?
Golgi apparatus?
Ribosomes - manufacture of proteins
Golgi - post-translational protein modification
In a cell what is the function of
Smooth endoplasmic reticulum
Production of steroid hormones
How to calculate standard error
SD/ √n
p53 affects where in cell cycle
G1/S
