Notebook Flashcards
(672 cards)
1
Q
What does gent trough reflect
A
Renal clearance
2
Q
What does gent peak reflect
A
Proportional to the dosing
3
Q
When is varicella infective
A
1-2 days before rash and until vesicles have healed
4
Q
Why not to give ibuprofen in varicella
A
Increased risk of secondary skin problems
5
Q
Prader willi syndrome
A
Large deletion of the PATERNAL copy of 15q11 (P = P)
6
Q
Enzyme inhibitors
A
SICKFACES.COM
Sodium valproate
Isoniazid
Cimetidine
Ketoconazole
Fluconazole
Alcohol
Chloramphenicol
Erythromycin
Sulphonamides
Ciprofloxacin
Omeprazole
Metronidazole
7
Q
Enzyme inducers
A
SCRAPGP
Sulphonylureas
Carbamazepine
Rifampicin
Alcohol
Phenytoin
Griseofulvin
Phenobarbital
8
Q
Virus normally precipitating erythema multi form
A
HSV
9
Q
Heart valve affected in rheumatic fever
A
Mitral
10
Q
Drugs inducing lupus
A
SHIPP
Sulfasalazine
Hydralazine
Isoniazid
Procainamide
Penicillamine
Also voriconazole
11
Q
Cause of malar rash in SLE
A
Occurs due to follicular plugging
12
Q
Only immunoglobulin to cross placenta
A
IgG
13
Q
Complication of exchange transfusion
A
Portal vein thrombosis
Portal HTN
14
Q
What part of the gut is the abnormality in malrotation
A
Foregut
15
Q
Triad goodpasture syndrome
A
Glomerulonephritis
Anti-GBM antibodies
Pulmonary haemorrhage
16
Q
What do eosinophils rleease
A
Prostaglandins & leukotrienes
17
Q
What do mast cells release
A
Histamine
18
Q
What determines the requirement for a loading dose of a drug
A
The volume of distribution
19
Q
C. Difficicile
A
Anaerobic gram +ve rod
20
Q
Most common manifestation of cutaneous TB
A
Lupus vulgaris - painless brown red nodules with irregular red plaques and central scarring
21
Q
Most common type of biliary atresia
A
Type III
Atresia at the porta hepatis - obliteration of the L&R hepatic ducts
22
Q
How to monitor LMWH
A
Anti factor Xa level
23
Q
MOA acetazolamide
A
Carbonic anhydrase inhibitor
24
Q
S/E acetazolamide
A
Acute interstitial nephritis
25
Definition of pulmonary HTN
MAP >25mmHg at rest
26
Pathophysiology of Meckel’s
Incomplete obliteration of the Vitelline duct
27
Layers of the glomerular filtration barrier
Parietal epithelial cells (podocytes)
Glomerular basement membrane
Capillary endothelial cells
28
Location of barrter syndrome
Ascending limb of Henle
29
Location of gitelman syndrome
Distal tubule
30
Location of Liddell man syndrome
Collecting ducts
31
Location of Fanconi syndrome
Proximal tubule disorder
32
Pharmacokinetics definition
Describes the course of a drug within the body - ADME
33
Bioavailability of a drug - definition
The percentage that enters the systemic circulation
34
PH in the stomach in the neonatal period - elevated or decreased?
What does this mean for the absorption of drugs
Elevated
Increases the absorption of weak base drugs e.g. penicillins
Decreases the absorption of acidic drugs e.g. phenobarb
35
A larger volume of distribution requires a larger loading dose of a drug - T or F
T
36
Formula for volume of distribution
Amount (mg) / plasma concentration (mg/l)
37
What does a small volume of distribution indicate
That the drug is largely retained in the systemic circulation
38
How much of a drug is eliminated in each half-life
50%
Therefore it takes 5 half lives for a drug to be completely cleared
39
Mnemonic to remember the antibiotic classes
Antibiotics
Can
Terminate
Protein
Synthesis
For
Microbial
Cells
Like
Germs
Aminoglycosides
Cephalosporins
Tetracyclines
Penicillins
Sulphonamides
Fluoroquinolones
Macrolides
Carbapenems
Lincosamides
Glycopeptides
40
Which antiretroviral causes lipoatrophy
Zidovudine
41
Major phase 1 pathway utilised by cytochrome P450 in the liver
Oxidation
42
What is pcm metabolised to
NAPQI (detoxified by glutathione)
43
Clearance of drugs in children with CF - thought to be higher or lower ?
Higher
44
Most severe adverse drug reaction of valproate in children
Hepatic failure
45
ADR salicylate
Reye’s syndrome
46
ADR of sulphonamides in neonates
Kernicterus
Sulphonamides have a higher binding affinity to albumin than bilirubin > lots if free unconjugated bili > crosses BBB
47
ADR lamotrigine
Skin reactions
48
Pcm - inhibition of COX 2 - what does this mean
Prevents the metabolism of arachindonic acid to prostaglandins (E2)
49
How does NAC work
Increases glutathione stores so the buildup of of NAPQI can be conjugated and excreted
50
Why do neonates have a decreased likelihood for paracetamol hepatotoxicity
They have immature glucuronidation and CYP2E1 metabolism, with compensatory increases in the sulfation pathways.
The immaturity of CYP2E1 pathway produces less NAPQI
51
Why should ceftriaxone be avoided in young babies
Ceftriaxone has caused calcium deposits in the lung and kidneys in neonates when calcium infusions have been given simultaneously
52
Examples of aminoglycosides
Gentamicin
Tobramycin
Amikacin
53
Mechanism of aminoglycosides
Inhibit protein synthesis (30S)
54
Example of cephalosporins
Cefuroxime
Ceftriaxone
55
Activity of cephalosporins
Gram +ve and Gram -ve
56
Mechanism of cephalosporins
Inhibit cell wall synthesis
57
Mechanism of tetracyclines
Inhibit protein synthesis (30S)
58
Mechanism of penicillins
Inhibit cell wall synthesis
59
Mechanism of sulfonamides
Inhibit folate synthesis
60
Example of sulphonamide
Sulfasaline
61
Example of fluoroquinolones
Ciprofloxacin
Levofloxacin
62
Mechanism of fluroquinolones
Inhibit DNA replication
63
Examples of Macrolides
Erythromycin
Azithromycin
Clarithromycin
64
Coverage of macrolides
Gram +ve
65
Mechanism of macrolides
Inhibit protein synthesis (50S)
66
Example of carbapenems
Mero
67
Coverage of carbapenems
Gram +ve and -ve
68
Mechanism of carbapenems
Inhibit cell wall synthesis
69
Example of Lincosamides
Clindamycin
70
Coverage of Lincosamides
Gram +ve
71
Mechanism of Lincosamides
Inhibit protein synthesis (50S)
72
Examples of glycopeptides
Vancomycin
Teicoplanin
73
Coverage of glycopeptides
Gram +ve
74
MEchanism of glycopeptides
Inhibit cell wall synthesis
75
What are the Beta lactam Abx groups
Penicillins
Cephalosporins
Carbapenems
76
Staphylococci
Aerobic gram +ve cocci
77
Streptococci
Aerobic gram positive cocci
78
Enterococci
Aerobic gram positive cocci
79
Listeria
Aerobic gram +ve bacilli
80
Bacillus
Aerobic gram +ve bacillus
81
Clostridium
Anaerobic gram +ve bacilli
82
Neiserria
Aerobic gram negative cocci
83
E.coli
Facultative aerobic gram -ve bacilli
84
Klebsiella
Gram -ve bacilli (facultative aerobic)
85
Salmonella
Gram -ve bacilli (facultative aerobic)
86
Shigella
Gram -ve bacilli (facultative aerobic)
87
Haemophilus
Gram -ve bacilli (facultative aerobic)
88
Pseudomonas
Aerobic gram -ve bacilli
89
Bacteriodes
Anaerobic gram -ve bacilli
90
What is GSD I
Deficiency of glucose-6-phosphatase
Can’t change glucose-6-phosphate to glucose and vice versa
91
WHat is GSD V
Muscle form - McCardle’s
Deficiency of mycophosphorylase
92
Imms at 8 w
6 in 1 , Men B , Rotavirus
93
Imms at 12 w
6 in 1 , Rotavirus , Pneumococcal
94
Imms at 16 w
6 in 1 , Men B
95
Imms at 1 year
Pneumococcal
Hib b / Men C
Men B
MMR
96
Imms at 3 y
MMR
4 in 1
97
Cause of Bartter’s syndrome
‘Loop diuretic overdose’
Disrupted NKCC2 channel in the loop of Henle (Na - K - Cl)
98
Cause of Giltelman’s syndrome
‘Thiazide diuretic overdose’
Disrupted NCCT channel in the DCT (Na - Cl)
99
Differences between Bartters and Gitelman
Bartter’s
Hypercalciuria and NO hypomagnesaemia
(Compensatory reabsorption of magnesium in the DCT)
Gitelman’s
Hypocalciuria and hypomagnesaemia
100
Where does most bicarbonate reabsorption in the kidney happen
Proximal convoluted tubule
101
Causes of renal tubular acidosis
1. Bicarbonate wasting in the proximal tubule (proximal RTA)
2. Impairment in ammonia formation
3. Failure to secrete hydrogen ions (distal RTA)
102
Urine pH study results to differentiate distal from proximal RTA
Distal RTA - failure to secrete hydrogen ions - so urine pH will always be > 5.5
Proximal RTA - urine pH will vary according to plasma bicarbonate
103
What does the pronephros persist of when it degenerates at week 5
MEsonephric duct
104
What does the mesonehpric duct eventually form
The ureteric bud
105
What causes a multi cystic dysplastic kidney
The secreting and collecting parts of the kidney fail to communicate which causes non-functional multiple non-communicating cysts
106
What are RBC casts diagnostic of
Glomerular involvement
107
Gold standard for grading VUR
MCUG
108
Principle ICF osmole
Albumin
109
Principle ECF osmole
Na
110
Max rate of reduction of a hypernatraemia
No more than 0.5 mmol/hr
111
Sign of hypokalaemia on ECG
U waves
112
Grading of VUR
I and II unilateral
III and Iv bilateral
113
Where is angiotensinogen produced
Liver
114
Where is renin released
Macula densa of the juxtaglomerular apparatus of the kidney
115
What converts angiotensinogen to angiotensin 1 §
Renin
116
What converts angiotensin 1 to angiotensin 2
ACE
117
What stimulates release of renin
Reduction in renal perfusion
118
Actions of angiotensin 2
Aldosterone secretion
Vasoconstriction
ADH secretion
119
Where does aldosterone act
The distal tubules and collecting ducts
120
Layers of the glomerular capillary wall
1. Endothelium
2. Basement membrane
3. Outer epithelium - podocytes and foot processes
121
Appearance of minimal change disease
Under electron microscopy
- effacement of the foot processes
122
In nephrotic syndrome what is also lost in addition to albumin
Complement and immunoglobulins
Loss of anticoagulant - prothrombotic state
123
Post strep glomerulonephritis - what is seen under
A electron microscopy
B light microscopy
A - granular IgG and C3 deposits in mesangial distribution
B - bumps in the sub epithelium
124
URTI and macroscopic haematuria
IgA Nephropathy
125
ANCA associated GN
GPA
126
Urolithiasis definition
Solid deposits (calculi) in the urinary tract
127
TORCH infections and do they cause symmetrical or asymmetrical poor growth?
Toxoplasmosis
Rubella
CMV
Herpes
Symmetrical poor growth
128
What causes asymmetrical poor growth in fetus
Poor placental function
129
Function of ileocaecal valve
Prevent retrograde migration
130
Function of increasing delta P
Aiming to improve CO2 clearance
131
Channels responsible for lung fluid reabsorption
Na channels
132
When is surfactant made from
24 weeks
133
Where is surfactant stored
Lamellar bodies
134
ABO antibodies
IgM
135
Rhesus antibodies
IgG
136
Complication of exchange transfusion
Hyperkalaemia
137
What inhibits surfactant
Meconium
Temp < 35
pH < 7.25
138
Hirschsprung’s - what is absent
The submucosal and my enteric plexus
139
What is seen in ARPKD
Cystic dilatation of the collecting ducts
140
Renal anomaly associated with turner’s
Horseshoe kidney
141
Gestation that skin matures
34 weeks
142
Steroid resistant nephrotic syndrome - which one has low complement and which one normal
Mempranoproliferative - LOW
FSGS - normal
143
Criteria A for cooling
APGAR < 5 at 10 min
Resus > 10 min
Acidosis < 7 within 60 min
BE > 16 within 60 mins
144
Criteria B cooling
Hypotonia
Altered consciousness
Abnormal primitive reflexes
145
What receptors are activated in normal voiding
Muscarinic
146
Chromosome for ADPKD
16 (PKD1)
147
What should c-peptide do in response to hyperglycaemia
Increase
148
Lesch nyan syndrome
Neurological features and Uric acid stone formation
149
S/E lithium
Hypothyroidism
(Leukocytosis)
150
Role of nucleus accumbens
Reward, gratification, motivation
151
MOA methylphenidate
Noradrenaline-Dopamine reuptake inhibitor
152
HPV genital warts
6 & 11
153
What determines male phenotype
The SRY gene on the X chromosome
154
what secretes AMH
Sertoli cells
155
Roles of AMH
Inhibits Fallopian tube / uterus formation
Controls abdominal descent of the testicles
Stimulates testosterone production by Leydig cells
156
Where is testosterone produced
Leydig cells
157
What is testosterone converted into
Dihydrotestosterone (by 5 alpha reductase)
158
What do Fallopian tubes form from in females
Paramesonephric ducts
159
What controls the scrotal phase of testicular descent
Testosterone
160
When does 2nd phase of testicular descent occur
25-30 weeks
161
Inheritance of CAH
AR
162
Most common cause of CAH
Mutation in the CYP21B gene on chromosome 6
Encodes for 21 alpha hydroxylase
163
In terms of the cholesterol steroid partway - what does CAH result in
Low aldosterone
Low cortisol
Increased testosterone
164
What is the purpose of giving hydrocortisone in CAH
Suppresses ACTH and adrenal androgen production
165
Androgen insensitivity syndrome and mode of inheritance
X linked recessive
‘Phenotypic female gets inguinal hernia surgery’
166
Until what age should you give a tesiticle to descend and why
3 months - androgens fall dramatically at this age
167
Where is the abnormality in a hypospadius
The opening is on the VENTRAL surface
168
Bulging introital mass as a neonate?
Imperforate hymen
169
Where does the tricuspid lie
Between the RA and RV
170
Where does the mitral valve sit
Between LA and LV
171
How many cusps does the pulmonary valve have
3 (semilunar)
172
Which valve characteristically has no cordal attachments to the ventricular septum
Mitral
173
Aortic arch branches from L to R
Braciocephalic
L common carotid
L subclavian
174
Where does the ductus arteriosus lie
Between the pulmonary trunk and descending aorta
175
What layer of the vessel allows vasoconstriction and dilatation
Tunica media
176
By what week is the heart a functioning organ
Week 4
177
What part of the embryo does the heart develop from
Mesoderm
178
What is a TAPVD
None of the pulmonary veins drain into the LA
Either go into the RA or the systemic veins
179
What gestation do the AV valves form
6&7
180
Difference between perimembranous and muscular VSD
Perimembranous - failure of the membranous part of the IV septum to form
Muscular - anywhere in the muscular part of the septum
181
What gestation does the truncus arteriosus divide
7&8
182
Gestation that the right umbilical vein disappears
7
183
Vessel supp[lying the foregut
Coeliac trunk
184
Vessel supplying the midgut
SMA
185
Vessel supplying the hindgut
IMA
186
Most common place for a coarctation
Distal to the subclavian
187
MOA alprostadil
Vasodilator - PGE1
188
MOA dinoprostone
Vasodilator - PGE2
189
Maternal drug that can cause PPHN
Aspirin
190
Trisomy 18
Edwards
191
Trisomy 13
Patau’s
192
Definition of cardiac output
Volume pumped out by EITHER ventricle, not the total amount pumped out by both
193
MOA adrenaline and noradrenaline
Positive inotrope
Bind to B1 adrenoceptors
194
Location of baroreceptors and role
Internal carotids and aortic arch
Monitor BP
(B+B)
195
Location of chemoreceptors and role
Carotid and aortic bodies
Monitor amount of oxygen in the blood
196
Definition of afterload
The external load that the ventricles must pump against to eject blood
197
Anaphylaxis doses
< 6 m = 100
6m - 6y = 150
6y - 12y = 300
>12y = 500
198
MOA chloramphenicol
Inhibits intracellular protein production
199
MOA ondansetron
Blocks 5HT3 receptors (serotonin)
200
MOA methotrexate
Inhibits the enzyme dihydrofolate reductase
201
When to measure tryptase in anaphylaxis
ASAP after emergency Rx started
2nd sample within 1-2 h
202
MOA vigabatrin
Irreversible inhibitor GABA 1
203
S/E vigabatrin
Visual field defects - only apparent in monocular vision ie closing each eye
204
Rx of serotonin toxidrome
Buccal midaz
205
S/E amiodarone
Pulm fibrosis
206
What does a L shift in the O2 dissociation curve mean
Indicate an INCREASED affinity for Hb, favouring LESS O2 release to the tissues
207
What does a R shift in the oxygen dissociation curve mean
Indicates a REDUCED AFFINITY for Hb, favouring OXYGEN RELEASE to the tissues
208
S/E of ceftriaxone
Can displace bilirubin from album > Kernicterus
209
S/E isoniazid
Peripheral neuropathy
210
LMWH MOA
Accelerates antithrombin dependent inactivation of Xa
211
Role of Factor Xa
Stimulates prothrombin to thrombin
212
S/E co-amoxiclav
Cholestatic jaundice
213
Inheritance Wiskott-Aldrich
X linked recessive
214
Triad in Wiskott- Aldrich
Recurrent bacterial sino pulmonary infections
Bleeding
Eczema
215
Most common location for duodenal atresia
Above the ampulla of Vater
216
MOA milrinone
Competitive inhibitor of PDE-III
Increases availability of cAMP, increasing contractility
217
Graft vs host disease - type of hypersensitivity
IV
218
Post strep glomerulonephritis - type of hypersensitivity
III
219
Disseminated HSV can affect which organ
Liver - increased ALT
220
% of neurological manifestation in Lyme disease
15
221
MOA aminophylline
Non-selective phosphodiesterase inhibitor
222
Rett syndrome inheritance
Trick Q - sporadic in 99% of cases
223
Gene Rett syndrome
MECP2
224
Mediation of Graft rejection
T-cell mediated
225
Conversion PO morphine to SC diamorphine
1 : 3
226
MOA fomepizole
Competitive inhibitor of alcohol dehydrogenase
227
Asthma drug requiring monitoring
Theophylline
228
MOA indomethacin
Inhibits prostaglandin E synthesis (NSAID!)
229
Cells mostly infected by EBV
B cells
230
How does renal impairment affect loading doses
It doesn’t - they stay the same !
231
Virus causing roseola
HHV 6 (fever 2-3 days then rash)
232
How does prostaglandins work in ductus arteriosus
They act on the EP4 receptor present on the smooth muscle of the DA (couple to a GPCR)
233
Sodium valproate S/E
Increased appetite
Weight gain
Hair loss
234
Phenytoin S/E
Gum hypertrophy
Hirsutism
Nystagmus
235
Lamotrigine S/E
Diplopia
Ataxia
236
MOA phenylephrine
Pure alpha adrenergic agonist
Doesn’t;t increase HR
237
MOA noradrenaline
Alpha agonist
Inotrope
238
MOA isoprenaline
Non selective B agonist
239
MOA dobutamine
B1 agonist
240
MOA lidocaine
Prolongs inactivation of voltage-gated na channels preventing action potentials from firing
241
How does phototherapy work
Production of excreteable water soluble isomers
242
How does crystal violet dye staining work in gram staining
Binds peptidoglycan in the bacterial cell wall
243
How do topical cycoplegics work
Most are MUSCARINIC receptor INHIBITORS
Cause my drains is
Blocks response of the iris sphincter and ciliary muscle
244
MOA fexofenadine
H1 antagonist
245
Test for CGD
Nitro blue tetrazolin (NBT) test
246
Yellow fever symps
Severe flu
Bruising
Gum bleeding
Epigastric pain
247
Mama layers in the skull
Dura mater
Arachnoid mater
Pia mater
248
S/E gent toxicity
Vestibular duct damage
249
S/E anthracyclines and example
Doxorubicin
Irreversible cardiac damage
250
S/E ethambutol
Visual disturbances
251
S/E of long term Ciclosporin therapy
Chronic interstitial nephritis
252
Where is the antigen binding site on immunoglobulins located
The VARIABLE region of one heavy and one light chain
253
MOA allopurinol
Xanthine oxidase inhibitor
Doesn’t allow xanthine to be converted to uric acid, so prevents kidney damage
254
MOA oxybutinin
Muscarinic receptor antagonist - relaxation of the bladder and smooth muscle
255
S/E metoclopramide
Severe anti-dopaminergic reaction i.e extrapyramidal symptoms Rx with procyclidine
256
What are koplick spots and what are they found in
White spots on the buccal mucosa
Measles
257
What contains fetal Hb
2 alpha and 2x gamma
258
What is adult Hb made of
2x alpha
2x beta
259
What type of vaccine is varicella
Live attenuated
260
What is a wild type varicella rash
Occurring within first 2 weeks or after 42 days of the vaccine
261
What is a vaccine-type varicella rash
Occurring 15-42 days after the vaccine
262
Rx of TCA overdose
NaBic
263
In what situation is activated charcoal contraindicated
Heavy metal poisoning
264
Enzyme deficiency in SCID
Adenosine deaminase enzyme
Affects purine salvage
265
Rash starting behind the ears - Dx?
Measles
266
Prednisolone inhibits migration of …
Neutrophils
267
Presentation of CGD
Neutrophil disorder associated with STAPH and FUNGAL infections
268
S/E carbamazepine
Transient leukopenia
269
Why are mycoplasmas resistant to beta-lactams
Because they lack a cell wall
270
Antidote to unfractionated heparin
Protamine
271
agent to reverse bleeding due to warfarin
Prothrombin complex
272
MOA rituximab
Monoclonal antibody that targets the CD20 surface molecules on B cells
273
What should patients with haemophilia not be given
IM injections - only SC (increased haematoma risk)
274
S/E quinines
Hypoglycaemia
275
S/E cimetidine
AKI
276
HLA associated with Behcet’s
HLA-B5
277
S/E amlodipine
Gingival hyperplasia
278
MOA Terri press in
Vasopressin analogue
Causes vasoconstriction of splanchnic vessels
279
What needs to be monitored after starting ganciclovir
FBC - can cause leukopenia/neutropenia/thrombocytopenia
280
Gestation suck reflex develops
34 weeks
281
MOA furosemide
Blocks tubular reabsorption of Na and Cl
282
Rx schistosomiasis
Praziquantel
283
Why is dex used instead of pred sometimes
Pred has significant Mineralocorticoid activity and will increase BP
284
Initial recommended dose of melatonin
2mg
285
Hereditary angioedema - what will be low
C4 levels
286
Renal s/e of trimethoprim
Increases creatinine, not urea
287
MOA mannitol
Osmosis in the proximal renal tubule
288
S/E praziquantel
Megaloblastic anaemia
289
MOA nitric oxide
Stimulates sGC to make cyclic guanosine mono phosphate
290
How does heart failure shift the frank starling curve
To the right
291
Actions of aldosterone
Increase Na and water reabsorption
Increase K excretion
292
Where does ADH exert effect
Collecting ducts
293
Cause of a U wave on ECG
Repolarisation of the mid myocardial cells
294
Most common SVT
AVRT
295
What drug should you not give in WPW and why
Digoxin - enhances conduction down the accessory pathway > triggers VF
296
MOA adenosine
Inhibits adenyl cyclise, reduces cAMP and causes cell hyperpolarisation by outward K flux
297
valve most commonly affected in rheumatic fever
Mitral
298
Most common causes of myocarditis
Coxsackie
Adenovirus
299
Outer protein coat of a virus
Capsid
300
What makes a virus unstable
If the capsid is covered by a lipoprotein envelope
301
Difference between gram +ve and gram -ve bacteria
Gram +ve - THICK peptidoglycan wall and no outer membrane
Gram -ve - THIN peptidoglycan wall and thin outer lipid membrane
302
ADPKD genes
Chromosome 16 (PKD1) 85%
Chromosome 4 (PKD2) 15%
303
Inheritance of idiopathic hypercalciuria
AD (Rx thiazide diuretic)
304
Dandy Walker malformation
Hypoplasia of the cerebellar vermis
Enlarged posterior fossa
Dilation of the 4th ventricle
305
Development of what is disturbed in DiGeorge
Development of 3rd and 4th pharyngeal arches
306
If there is a FH of T21, what type of mutation to consider
Robertsonian translocation
307
Tay-Sachs mutation type
Frameshift
HEXA gene on chromosome 15
308
Presentation Tay-Sachs
Affects CNS and PNS
‘Cherry red spot’
309
Most common cause of infantile spasms
TSC
310
Temp for s.aureus to grow
7-46 C
311
Temp for listeria to replicate
0 -4 C
312
Temp for clostridium Difficile to grow
35C
313
Temp for bascillus to grow
30 C
314
TNF alpha inhibtor
Adalimumab (alpha + a)
315
IL-1 inhibitor
Anakinra
316
IL-6 inhibtor
Tocilizumab (to6)
317
B-cell inhibtor
Rituximab (brrrr)
318
T-cell inhibtor
Abatacept (Upside down T - a bat upside down)
319
What is a fungal cell wall made of
Chitin polysaccharide
320
Therapeutic index definition
How likely the drug is to cause toxicity to the host
321
Diagnosis of HIV in neonates vs older children
Neonates - HIV DNA or RNA PCR
: at birth
: then 6 weeks
: then 3 - 4 months
Older children - HIV antibodies
322
Mode of action of nystatin & amphotericin B
Binds to ergosterol in the cell wall causing lysis
323
MOA fluconazole
Blocks synthesis of ergosterol
324
Inter nuclear ophthalmoplegia
Lesion is on the SAME SIDE as the eye that FAILS TO ADDUCT
325
Main gut hormones
Secretin
Gastrin
Cholecystokinin-Pancreozymin
326
Monitoring LMWH
Anti-factor Xa level
327
Monitoring warfarin
Prothrombin (extrinsic)
328
Monitoring unfractionated heparin
APTT (intrinsic)
329
Timing for amniocentesis
After 15 w
330
Steady state definition
5x the half life of the drug
331
What to give for tonsillitis swelling in EBV
IV hydrocortisone
332
CVID - how does it present
With BOTH bacterial and viral infections
333
Definition of night terror
Partial arousal from slow wave stage 4 non-REM sleep
334
FSGS low or normal complement
Normal
335
What is the lytic complement pathway
C5-9 (deficiency causes opportunistic bacterial infections)
336
Plasma osmolality cut off in DI
275 - 295 mosmol / kg
337
Cause of fluid lung reabsorption in utero and ex utero
In utero - chloride
Ex utero - sodium
338
Presentation McCune Albright
Cafe au lait macules
Precocious puberty
339
Name of accessory pathway in WPW
Bundle of Kent
340
Rotavirus - type of virus
Non enveloped double stranded RNA virus
341
How to monitor phenytoin in chronic disease patients
Salivary levels
342
Inheritance Crigler-Najjar
AR
343
Mutation Crigler-Najjar
UGT1A1 gene
344
What does nosocomial transmission mean
Hosp acquired
345
Induction of —- in the brain raises the hypothalamic set point for body temperature
Prostaglandin E2
346
When is the patient no longer infectious in parvovirus
When the rash appears
347
Inheritance kallman syndrome
X linked recessive
348
Chromosome abnormality BWS
11p15
349
Mutation Williams syndrome
7q
Encompasses the elastin gene
350
Argyll Robertson pupil
Bilaterally small pupil that can accommodate but doesn’t constrict to bright light
351
Conditions that Argyll Robertson is in
Neurosyphilis
Diabetic neuropathy
352
Holmes’s Adie pupil
Mydriasis of at least one eye
Slow light response but normal accommodation
353
Marcus Gunn pupil
Eponymous name for a RAPD
354
MOA sildenafil
PDE-V inhibitor
355
MOA milrinone
PDE-III inhibitor
356
Most common cardiac manifestation of Lyme disease
1st degree heart block
357
Cell cycle
G1 variable length
S DNA made
G2 fixed length
M mitosis
358
Type of collagen made in bone healing
Type 1
359
Inheritance freidrich’s ataxia
AR
360
Mutation in Friedrich’s ataxia
GAA repeat expansion of the frataxin gene (FXN)
Causes oxidative injury with iron deposits in the mitochondria
361
X linked agammaglobulinaemia presentation
No B CELLS
So all Ab levels reduced
Recurrent bacterial infections
BTK gene mutation
362
Which Ig is reduced in CVID
IgG
2nd-4th decade with recurrent bacterial/viral/parasitic
363
How does IgA deficiency present
2-4y with recurrent resp infections
364
Ataxia telangiectasia which Ig is reduced
IgA
365
What is the main problem in SCID
Blockage of lymphocyte development
366
What is the problem in CGD
Neutrophil defect
Can’t pathogen kill with macrophages
Recurrent deep seated infections
367
Vaccination schedule for at risk Hep B
Birth
1month
2 months
1 years
368
Hb component
4x glob in chains
1x central haem group
369
Site of iron absorption
Duodenum
370
Estimate of total body iron
Serum ferritin
371
Role of Hepcidin
To protect from iron overload by degradating the cellular transporter ferroportin
372
Inheritance of Diamond-Blackfan anaemia & presentation
AD
Craniofacial / thumb abnormalities / growth restriction
373
Drugs to avoid in G6PD
Co-trimoxazole
Dapsone
Nitrofurantoin
Chloramphenicol
Aspirin
** broad beans **
374
Chromosome alpha globin gene
Chromosome 16
375
Chromosome beta globin gene
Chromsome 11
376
What is the problem in sickle cell
There is a single amino acid change in the beta globin gene (valine for glutamine (V TO G))
377
Test for fanconis anaemia
Chromsome breakage test
378
Triad in shwachman diamond syndrome
Bone marrow failure
Pancreatic insufficiency
Skeletal anomalies
379
Hat can be used as an alternative factor concentrate in mild haemophilia a
Desmopressin
380
Role of protein C
Inhibits factors V and VIII
381
Role of protein C
Enhances Protein S
382
Expression of what oncogene increases neuroblastoma risk
MYCN oncogene
383
Meningitis prophylaxis
Ciprofloxacin
384
Murmur in tricuspid regurgitation
Systolic LLSE
385
S/E ACEi
Hyperkalaemia
386
Maternal rubella infection can cause what deformity in baby
PDA and branch pulmonary artery stenosis
387
Maternal lithium use - risk to fetus of?
Ebsteins anomaly
388
Maternal diabetes - risk to fetus of?
TGA
389
Association with HLA-DR3
T1DM
Hashimoto’s
Dermatitis herpetiformis
390
What is tertiary hyperparathyroidism
Hyperplasia of the parathyroid gland secondary to longstanding hyperparathyroidism, usually in the context of CKD
391
Where is nitric oxide derived from
L-arginine by NO synthase
392
G6PD inheritance
X linked recessive
393
MOA atomoxetine
Selective norepinephrine reuptake inhibitors
394
Rx absence seizures
Ethosuxamide or sodium valproate
395
How does exogenous insulin administration affect C-peptide levels
It doesn’t increase them
396
When should a pcm level be taken in OD
4 hours post ingestion
397
What type of ALL is a good prognostic sign
Common type
398
Best prognostic marker in AML
Bone marrow karyotype
399
Rx aspirin OD
Sodium bicarbonate
400
Presentation west syndrome
Infantile spasms
Developmental regression
Hypsarrhymthmia
401
What channels are blocked by amiodarone
K channels
402
Presentation Pendred Syndrome
Profound bilateral sensorineural deafness
Vestibular dysfunction
Goitre
403
How does glucagon work in B Blocker OD
Bypasses B receptors to increase cAMP
404
What happens in MCADD
There is an inability to metabolise fat stores during starvation
405
‘Rice water stools’
Cholera
406
Eye problem in myotonic dystrophy
Cataracts
407
MOA clonidine
Alpha 2 adrenergic
408
MOA vigabatrin
Inhibits GABA breakdown by inactivating the metabolising enzyme GABA transaminase
409
MOA isoniazid
inhibits mycolic acid synthesis
410
MOA ethambutol
Inhibits arabinosyltransferase
411
Blood abnormalities in tumour lysis syndrome
Hyperuricaemia
Hyperphosphataemia
Hyperkalaemia
Hypocalcaemia
Rapid breakdown of malignant cells, causing release of intracellular contents
412
Timing of s aureus diarrhoea
2-4 hours post ingestion
413
MOA midazolam
GABA A receptor agonist
414
‘Rectal prolapse can be a GI manifestation of what disease
CF
415
Does vasopressin bind to a GPCR or an ion-channel linked receptor
GPCR
416
Most common subtype of JIA
RF negative polyarticular JIA
417
What enzyme activates folic acid
Dihydrofolate reductase > activated to tetrahydrofolic acid
418
Role of UVB phototherapy
Induce pyramidine dimerisation
419
Complications of parvovirus B19
Aplastic crisis
Pericarditis
Arthropathy
420
Until what gestation for vascularisation of the eye developing
40w
421
Most common cause of viral meningitis in a mumps immune population
Enteroviruses - coxsackie, echinovirus
422
Presentation yellow fever
Flu / Pyrexia
Relative bradycardia from day 2
Jaundice
Hepatomegaly
Bruising
Gum bleeding
423
What does prednisolone inhibit
Migration of neutrophils
424
A terminal complement deficiency leads to increased risk of what type of infection
Meningococcal
425
What does terminal complement form
The membrane attack complex
426
Definition of pulmonary HTN
> or equal to 25 mmHg at rest
427
What abnormality in a full blood count is associated with breath holding spells
Iron deficiency anaemia
428
HLA association with DKA
HLA-DR3
429
Gas abnormality in a urea defect and why
Respiratory alkalosis
Urea defect > hyperammonia > hyperventilation > resp alkalosis
430
Rx of a GLUT-1 deficiency when intercurrent illness
Carb free fluids to avoid ketosis
431
Formula for calculating anion gap
[Na + K] - [Cl + HCO3]
normal 10-16
432
Formula for calculating a half correction of acidosis with sodabic
(Base deficit x weight x 0.3) divided by 2
433
Primary location of the urea cycle
Liver
434
Ammonia scavenging medications
Sodium benzoate
Sodium phenylbutyrate
435
Enzyme controlling glycogenolysis
Phosphorylase
436
Inheritance of Leigh syndrome
Mitochondrial
437
MRI changes in Leigh syndrome
Symmetrical changes at the basal ganglia and brain stem
438
Inheritance of Kearns-Sayre
Mitochondrial
439
Presentation of kearns-sayre
1. < 20 years
2. External ophthalmoplegia
3. Pigmentary retinopathy
Plus 1 of
Heart block
Cerebellar ataxia
CSF protein > 0.1
440
Principle ketone bodies and how are they normally generated
Beta hydroxybutyrate
Acetoacetate
Generated from acetyl-CoA by beta oxidation of fatty acids
441
S/E of pyroxidase
Apnoea
442
Definition of MPS
Lysosomal storage disorder
Deficiency of breakdown of glycosaminoglycan
443
Where are lysosomal enzymes synthesised
Via the endoplasmic reticulum
444
What is the process of splicing
Removes introns to only leave extrons
445
Nonsense mutation definition
Single nucleotide mutation that generates a premature ‘stop’ codon
446
Missense mutation definition
Single nucleotide variant that substitutes one amino acid for another protein
447
MCAD presentation
Reye-like rapidly progressive crisis after 8-16 hours of fasting
448
Gain of function mutation definition
They prevent inactivation of the proteins normal function
449
Myotonic dystrophy inheritance and mutation type
AD
Triplet repeat expansion in DMPK gene
450
Fragile x inheritance and mutation type
X linked recessive
Triplet repeat expansion in FMR1 gene
451
Rett syndrome inheritance and gene affected
X linked dominant
MECP2 gene
452
Pleural effusion - difference between transudative and exudative
Exudative - accumulation secondary to the inflammatory process of underlying phenomenon
Transudative - secondary to hydrostatic pressure or decreased oncotic pressure within normal capillaries
453
Embryology
Forebrain formed from …
Midbrain formed from …
Hindbrain formed from …
Forebrain - prosencephalon
Midbrain - mesencephalon
Hindbrain - rhombencephalon
454
The forebrain goes on to form …
The cerebral hemispheres and thalamus
The lateral ventricles and third ventricle
455
The midbrain goes onto form ..
The midbrain and cerebral aqueduct
456
The hindbrain goes onto form …
The brain stem
The 4th ventricle
457
What layer does primitive neural tissue arise from
Ectoderm
458
Spina bifida occulta definition
Defect in the development of the vertebral arch
Doesn’t involve the spinal cord and the skin is intact
459
Definition of spina bifida cystica and what is it split into
The spinal cord tissue protrudes through the skin
Split into meningocele and myelomenigocele
Meningocele - fluid filled meninges protruding, NOT spinal cord
Myelomeningocele - protruding neural tissue
460
What does the pluripotent neural stem cell differentiate into
Neurons
Astrocytes
Oligodendrocytes
461
Role of oligodendrocytes
Support and insulate the axon
462
Type of cell producing myelin
Glial cells
463
Substances that are able to cross the BBB
Water
Gases
Lipid soluble substances
464
Where is CSF produced
Ependymal cells in the choroid plexus of the lateral ventricles
465
Describe the route of CSF
From the lateral ventricles
Exits through the intraventricular foramen of Munro into 3rd ventricle
Through the aqueduct of Sylvius
Into the 4th ventricle
Down the spinal cord and over the cerebral hemispheres
466
Rate of CSF production
30ml / hr
467
Difference between communicating and non-communicating hydrocephalus
Communicating = no obstruction between the ventricles and the subarachnoid space
Non-communicating = obstruction
468
CSF appearance in a T1 vs T2 MRI
T1 - black
T - white
469
What technique for EEG typically evokes an absence seizure
hyperventilation
470
What technique for EEG typically evokes juvenile myoclonic epilepsy
Sleep deprivation
471
Rx focal seizure
Carbamazepine
472
Rx tonic clonic seizure
Lamotrigine
473
Rx absence seizure
Ethosuxamide
474
Rx myoclonic epilepsy
Keppra
475
What channel does the majority of anti-epileptic medication work through and how is ethosuxamide different Q
Majority - Na channels
Ethosuxamide - Ca channels
476
2 different types of cell surface receptors
GPCR
Growth factor receptors
477
What initiates signalling of growth factor receptors
Tyrosine kinase
478
Embryology - what is the pancreas derived from
Endoderm
479
Production from the pancreas - order
First is insulin and somatostatin, then glucagon
480
What cells produce somatostatin
Delta cells
481
What cells in the pancreas produce glucagon
Alpha cells
482
Week that the thyroid develops from
Week 4
483
Position of the thyroid gland
Anterior to the 2nd - 4th tracheal ring
484
The majority of T3/T4 is bound to ?
Thyroid binding globulin
485
Embryology - what is the posterior pituitary derived from
Ectoderm
486
Where does the parathyroid glands develop from
3rd and 4th branchial arches
487
What effect does magnesium have on PTH release
Hypomagnesaemia - inhibits PTH release
488
Cvostek’s sign
Latent tetany by tapping the facial nerve in front of the ear
489
Trosseau’s sign
Carpal spasm < 3 mins of inflating BP cuff to above systolic pressure
490
What are all steroids derived from
Cholesterol
491
Most LQTS affect what type of channels
K channels
492
How often to change an insulin pump
Every 2-3 days
493
MOA vigabatrin
Irreversibly inhibits GABA transaminase, so increasing GABA levels
494
Chylothorax definition
Accumulation of chyle in the pleural cavity from an internal lymphatic fistula
495
Diet Rx in chylothorax
Medium chain triglyceride formula - bypasses the lymphatic system
496
What is X-linked adrenoleukodystrophy
Progressive peroxisomal B oxidation disorder
497
What is a medullary sponge kidney and what does it predispose to
Cysts that are 1-5mm in the collecting system
Causes hypercalciuria which predisposes to stone formation
498
MOA lorazepam
Activates chloride channels
499
MOA sodium valproate
Enhances GABA mediated inhibition
500
MOA phenytoin
Na channel blocker
501
‘Lesions with central scarring’
Lupus vulgaris
502
Sandfly bite can cause ?
Leishmaniasis
503
What should you not give in arginase deficiency
Arginine
504
You get aura with abdominal migraine T or F
False - no aura
505
What IL is reduced in OSA
IL-10
506
Monitoring LMWH
Anti-Xa levels
507
Periodic fever syndrome - which Ig
IgD
508
Lithium S/e
Hypothyroidism
509
Influenza - what type of virus
Negative sense, single stranded RNA virus
510
What causes the wheeze in bronchiolitis
NOT bronchospasm
Caused by the plugging by luminal debris
511
Type of virus - HSV
Double stranded DNA virus
512
Exclusion from nursery for measles
Until 5 days after the onset of rash
513
What is the corpus callosum
White matter connecting the hemispheres
Passes info from one side of the brain to the other
514
Malaria prophylaxis
Chloroquine (high rate of resistance in Kenya)
Or
Atoraquone and Proguanil (give > 5kg)
515
Presenting features of a submucosal cleft
Bifid uvula
Absent of noted posterior nasal spine
Translucent area in soft palate midline
516
Condition that a U-shaped cleft is often associated with
Pierre Robin
517
When should a baby shift fixation from the midline ie move their eyes without moving their head
3 months
518
Normal ocular alignment is achieved by what age
2 months
519
Where are B1 receptors located
Heart (SA and AV node)
- increase contractility and heart rate
520
Starting shock for VT with a pulse
1J/kg
521
Vaping causes what type of vitamin deficiency
E
522
Congenital rubella infection presentation
IUGR
Bilateral cataracts
Cardiac anomalies
523
Rx for familial hypercholesteraemia
Ezetimibe
- inhibits dietary cholesterol absorption in the intestine by blocking Niemann Pick protein
524
S. Viridans
Gram +ve coccus
525
C. Diphtheria
Gram +ve bacillus
526
N.meningitides
gram -ve coccus
527
Ix for Volvulus
Upper GI contrast
528
How do cycloplegics work
Through anti-muscarinic and anti-cholinergic pathways
Prevent iris-lens adhesions
529
Screening test for central precocious puberty
Random LH
530
Differences in a hypothermic resus
No resus drugs < 30 C
Between 30 and 35C, double the dose interval between adrenaline ie every 8 min
Need to continue resus until at least 32C
531
What is alpha 1 anti trypsin and what does a high measurement mean
A plasma protein that is resistant to degradation by proteases
If high - can indicate leakage of plasma proteins into the gut
532
MOA Sulphonylureas
Act on the ATP-sensing K channel in B cells, coded by KCNJ11 gene
533
Neuropraxia definition
Focal demyelination, with preservation of atonal integrity
534
Axontmesis definition
Affects myelin and axon
Nerve sheath preserved
535
Neurotmesis - capacity for recovery?
No
536
Rx of CMPA
Hydrolysed protein formula
537
Rx of galactosaemia
Lactose and galactose free diet
538
Well recognised complication of neuroblastoma
Paraneoplastic syndrome
539
type of hepatitis passed on by shellfish
Hep A
540
MOA acetozolamide
Carbonic anhydrase inhibitor
541
Adverse effect of acetozolamide
Causes acute interstitial nephritis
542
Inheritance of incontentia pigmentia
X linked dominant
543
Presentation incontentia pigmenti
Evolving linear cutaneous lesions that start as a blistering rash and progress to hyperpigmented lesions that follow Blashko’s lines
544
What do chief cells secrete
Pepsinogen
545
What do mucus neck cells secrete
Bicarbonate
546
What do D cells secrete and their role
Somatostatin (inhibit acid secretion)
547
What do G cells produce and their role
Gastrin
Stimulate parietal and chief cells
548
Parietal cell secretions
Hydrochloric acid and intrinsic factor
549
Blood abnormality with isoniazid
Increased LFTs
550
Role of pyroxidine in TB Rx
Give alongside isoniazid
Form of Vit B6
prevents peripheral neuropathy caused by isoniazid
551
MOA Domperidone
Dopamine receptor antagonist
552
Oral morphine : SC morphine conversion
2 : 1
553
In relation to bacteria , where are lipopolysaccharides found
On the OUTER membrane of gram negative bacteria, which are released upon lysis of the organism
554
Causes of QT prolongation
Hypothermia
Hypocalcaemia
Hypokalaemia
Hypomagnesaemia
Erythromycin
Domperidone
555
MOA caffeine citrate
Blocks adenosine receptors (A1 and A2) which increases sensitivity to CO2 and causes respiratory stimulation
556
What hormone precipitates puberty
Increased release of GnRH
557
Role of FSH
Male - stimulates Sertoli cells to start spermatogenesis
Female - proliferation of granulosa cells with oestrogen and progesterone
558
Role of LH
Male - stimulates Leydig cells to release testosterone
Female - stimulates follicular and thecal cells
559
Meckel’s diverticulum
Persistence of the Vitelline duct
560
Ix Fanconi anaemia
Chromosome breakage studies
561
Pathophysiology of ITP
Peripheral destruction of the antibody coated platelets by reticuloendothelial cells in the spleen
562
Where is most glucose reabsorbed
By SGLT2 in the proximal tubule
563
MOA aminophylline
Non selective phosphodiesterase inhibitor and adenosine antagonist
564
MOA mannitol
Osmosis in the proximal renal tubule
565
Rx chlamydia conjunctivitis in the neonate
Oral erythromycin
566
Normal urinary Na
< 20 mmol/l
567
S/E quinine
Hypoglycaemia
568
Recurrent neiserria meninigtis suggest a deficiency in .. ?
The lytic complement pathway (C5-C9)
569
Meconium staining in a preterm delivery suggests what type of infection
Listeria
570
What are cotton wool spots
Microinfarctions on the retinal surface
571
Alopecia - what type of cell mediation
T cell
572
Most common type of biliary atresia
Type III
At the level of the porta hepatis (L&R hepatic ducts)
573
What is a keloid scar made of
Fibroblasts
574
What is the aim of a test spell Rx
To increase pulmonary blood flow by reducing PVR and increasing SVR
575
Role of OCP in PCOS
Suppresses ovarian stimulation
576
Role of clomifene in PCOS
Stimulates ovulation induction
577
Where in the brain is affected by Kernicterus
Basal ganglia
578
MOA ipratropium
Anti-muscarinic bronchodilator
S/E mydriasis
579
How does glucagon work in B blocker OD
Stimulates adenylate cycles
580
Inheritance Wilson’s and gene
AR
ATP7B gene (chromosome 13)
581
GBS - aerobic or anaerobic
Anaerobic !
582
What causes rib notching in coarctation
Increased collateral circulation
583
Eye problem in familial adenomatous polposis
Congenital hypertrophy of the retinal pigment epithelium
584
Alagille syndrome
Posterior embryotoxin
585
Holt Oram syndrome - inheritance and gene mutation
AD
Majority de novo mutations
Gene TBX5 on chromosome 12
586
Holt Oram syndrome presentation
Heart and upper limb malformation complex
1. Hypoplastic thumbs
2. Absent radii
3. Cardiac defects (ASD) - fixed wide split 2nd sound
587
H pylori gram staining
Gram -ve bacilli
588
Lorazepam MOA
Positive allosteric modulator of GABA-alpha receptor
589
Types of infection seen in SCID
NOT just bacterial - also viral
590
Problem in X-linked agammaglobulinaemia and how does it present
Abnormal gene for B cell tyrosine kinase
So get reduced IgG and IgM
JUST BACTERIAL infections
591
MOA phenobarbital
Increases opening time of chloride channels by binding to GABA A receptors
592
Chronic giardiasis symptoms
Malabsorption symptoms, treat with oral metronidazole
593
Rx of GLUT1 deficiency
Ketogenic diet
Provides an alternative fuel to restore brain energy metabolism
594
Difference in the outer wall of gram +ve and gram -ve bacteria
Gram +ve LACK lipopolysaccharides, but are present in gram -ve
595
If the confidence interval contains 0 what does this mean
The result ISNT statistically significant
596
What happens in red man syndrome secondary to vanc
Histamine release from mast cells and basophils
597
Neuroblastoma definition and most common site
Malignant tumour of the sympathetic nervous system
Most common found in the adrenal gland or sympathetic chain
598
Adrenaline acts mainly on what receptors at
A) low dose
B) high dose
Low dose - beta
High dose - alpha
599
Receptors that norad is effective on
Alpha
600
Low dose dopamine acts on what receptors
B1
601
H pylori Rxc
Amox / Clari / Omeprazole for 7 days
602
Repeat expansion in Friedrich’s ataxia
GAA
603
Repeat expansion in muscular dystrophy
CTG
604
Repeat expansion in Fragile x
CGG
605
What is Bartter’s syndrome
mutation in Na-K-Cl transporter in the Loop of Henle
The reduction in K leads to exchange for H+ ions in the DCT so get a metabolic alkalosis
606
Section A criteria for cooling
Resus > 10 mins
APGAR < 5 at 10 mins
BE > 16 within 60 min of life
PH < 7 within 60 min of life
607
Section B criteria for cooling
Abnormal reflexes
Altered consciousness
Hypotonia
608
How does Vitamin E deficiency typically present on a blood film
Presence of acanthocytes
609
Frameshift mutation definition
Sequence of DNA is inserted or deleted, so shifts the entire gene resulting in a stop codon
610
TSC1 gene
Hamartin
611
TSC2 gene
Tuberin
612
S/E sodium valproate
Hepatic dysfunction
613
S/E topiramate
Kidney stones
614
S/E phenytoin
Gum hypertrophy
615
S/E carbamazepine
Transient leukopenia
616
Site of action acetazolamide
Proximal tubules
Inhibits Hi ion secretion, resultant loss of Na K and bicarbonate in th urine
617
At what gestation does skin keratinise and become impermeable
19 weeks
618
Where are melanocytes derived from
Ectoderm
619
Role of DEJ
Provide adhesion between basal keratinocytes and the dermis
620
What type of epithelium is the epidermis made from
Stratified squamous
621
Layers of the epidermis
1. Stratum corneum
2. Stratum lucidem (only palms and soles)
3. Stratum granulosum
4. Stratum spinosum
5. Stratum basale (basal cell layer)
622
What is the role of desmosomes
Cell adhesion molecules that hold together keratinocytes in the epidermis
623
What is the source of new epidermal cells
The basal cell layer
624
What are merkel cells in the epidermis
Specialised nerve endings
625
Role of langerhan’s cells
Present antigens
626
Components of the dermis
Fibrous component
- collagen and elastin
Ground substance (glycosaminoglycans)
- produced by fibroblasts
627
Difference between apocrine and eccrine sweat glands
Apocrine - body odour
Eccrine - regulate body temp
628
Hair growth phases
1. Growth - anlagen
2. Involutional - Catagen
3. Resting - telogen
629
Role of emollients
Reduce transepidermal water loss
630
Fingertip rule for topical steroids
One finger tip unit weighs 0.5g - should Rx the size of two adult palms with the fingers together
631
Inheritance of epidermolysis bullosa simplex
AD
632
Inheritance of junctional EB
AR
633
Dystrophic EB inheritance and where is the blister formation
AD or AR
Blisters in the upper dermis
634
MOA tacrolimus
Calcineurin inhibitor - inhibits T cell activation
635
Pathophysiology of SSSS
Staph releases exotoxins that bind to DESMOSOMES and cause skin to blister easily
636
Virus most commonly triggering EM
HSV
637
What is morphoea
Localised scleroderma
638
Mutation in hereditary spherocytosis
ANK1 mutation in > 50%
639
Different phases of a clinical trial
Phase 1 - assess safety and side effects
Phase 2 - assess safety and optimise dosing schedule
Phase 3 - compare new intervention with standard intervention
Phase IV - ongoing clinical efficacy in a population wide range
640
Ecological study definition
Data from a geographical defined population to identify risk-modifying factors on health outcomes
641
Cohort study definition
Recruited in a particular setting and followed up to determine outcome
642
Role of a dot diagram
Continuous numerical data for a variable
643
Role of a scatter plot
Shows the relationship between 2 continuous variables
644
Normal distribution definition
Symmetrical bell shaped curve
645
What type of data do parametric tests work for and difference to non-parametric tests
They rely on normally distributed data
Non-parametric tests make no assumption that data is normally distributed
646
In data that is normally distributed how will the mean and the median relate to each other
They will be the same
647
Range definition
Difference between highest and lowest values
648
Standard deviation definition
The measure of the spread of data around the mean
649
Z score definition
The number of SD’s of an individual data point from the mean
650
Type of data that a T test is used for and the difference between paired and unpaired
T test is used for continuous data that is normally distributed
Paired - comparing the same group before and after the intervention
Unpaired - used to compare two independent populations
651
When to use ANOVA
If 3 or more groups are being compared
652
Mann-Whitney U test
The non parametric equivalent of the 2 sample T test
653
Use of the Chi-squared test
Relationship between categorical variables e.g. yes/no, eczema/no eczema
654
What are regression methods used for
Determine the relationship between NUMERICAL variables
655
Pearson’s correlation coefficient
Measure of linear association in normally distributed data
656
Rx for WPW if diagnosis known
Amiodarone
657
Pathognomonic antibody for SLE
Anti-disDNA
658
Neonatal lupus can be induced by …?
UV light
659
Bloom syndrome presentation
Growth retardation, photosensitive, pigment abnormalities, telangiectasia
660
Difference between Fanconi anaemia and Fanconi syndrome
Fanconi anaemia - rare form of aplastic anaemia
Fanconi syndrome - proximal tubular defect
661
What does standing to squatting do to preload
Increases it
662
What is Pompe’s disease
Mutation in lysosomal transport
Glycogen storage disorder
GSD II
663
MOA fusidic acid
Inhibits protein synthesis
664
Presentation adrenoleukodystrophy
4-8y of age
X linked recessive
Change in behaviour
Tip toe walking
665
Most common site affected by UC
Sigmoid colon
666
Where are GPCR located
The cell membrane
667
Pseudomonas
Gram -ve bacilli
668
EBV - type of virus
Enveloped DNA virus
669
Murmur in ToF
LUSE
670
In what phase of the cell cycle are cells most resistant to chemo drugs
G0
671
Defect in uroporphyrinogen co-synthetase cause … ?
Congenital erythropoietic porphyria
672
What is formed as the penultimate step before haem formation ?
Protoporphyrin
