2014 remembered

Question 1

1. Cyclosporine is a chemotherapeutic agent that works by which mechanism

a. alkylation of DNA
b. inhibition of DNA synthesis
c. damage to microtubules
d. Inhibition of mitosis
e. Inhibition of angiogenesis

Answer 1

a. alkylation of DNA

Question 2

2. A medication has been studied for its effect in promoting weight gain. The intervention arm gained an average of 6.2kg (95% CI 4.1-7.9) with the placebo arm gaining an average of 4.7kg (95% CI 3.2-5.7). The most accurate interpretation of these results is
   a. The result is not statistically significant
   b. The population result for weight gain in the intervention arm is likely between 4.1 and 7.9kg
   c. There is a 95% chance that the effect of the intervention lies between 3.2kg and 7.9kg

Answer 2

Answer B- The population result for weight gain in the intervention arm is likely between 4.1 and 7.9kg

The confidence interval represents the range of values within which we are 95% confident that the true population estimate lies

Question 3

3. Octreotide is used in the management of GI bleeding. It is an analogue of which of the following endogenous hormones
   a. growth hormone
   b. dopamine
   c. somatostatin
   d. gastrin
   e. cholecystokinin

Answer 3

C, somatostatin

Question 4

4. Long acting beta agonists are not recommended for isolated use in children. The reason for this is (rpt question)
   a. Depletion of secondary messengers
   b. Increasing binding affinity to B2 receptors
   c. Internalisation of beta receptors
   d. Reduction of B2 density
   e. Upregulation of B2 receptors

Answer 4

Answer C, internalisation of B receptions

Short or infrequent exposures of the agonist to the receptor can cause the uncoupling of the receptor from adenylyl cyclase; increased duration of exposure can internalize receptors, and further increases in agonist use can cause receptor degradation. Each mechanism decreases the efficacy of the agonist; however, they can all be reversed in a time-dependent manner
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3101615/

Question 5

5. In a study of 500 patients of whom 85 had pre-existing asthma, 15 new Dx of asthma are made over the course of the study period of a year. What’s the incidence in this study?
   a. 15/500
   b. 15/415
   c. 85/500
   d. 100/500

Answer 5

Answer B, 15/415.

Incidence is the number of new cases per year. Have to subtract number of already known cases (85) from the total number in the study (500)= 415. Therefore 15/415

Question 6

6. An adolescent is treated in ED for nausea and vomiting with metoclopramide. He now has tongue sticking out, stiff and has trouble walking. What medication would you give:
   a. Benztropine
   b. Benzodiazepine
   c. Flumazenil
   d. Haloperidol
   e. Olanzepine

Answer 6

Answer A, benztropine

Dystonic reaction. Treat with benztropine

Question 7

7. During the cardiac cycle, what is the key trigger for onset of systole
   a. Release of stored Ca from sarcoplasmic reticulum
   b. Influx of calcium through T channels
   c. active uptake of calcium into sarcoplasmic reticulum.
   d. rapid entry of sodium through fast ion specific channels.
   e. slow inward calcium current.
   f. low inward sodium current.

Answer 7

D, rapid entry of sodium through fast ion specific channels.

0 = membrane depolarization: Na+ in via voltage gated sodium channels 
*1 = rapid repolarization:  rapid ↓ in Na+ permeability & small increase in K+ permeability (exits)
2 = slow repolarization: plateau effect - small K+ permeability (exits) & ↑ calcium channels (enters) 
3 = rapid repolarization: gradual ↑ K+ permeability & inactivation of the slow inward Ca2+ channels 
4 = resting membrane potential – Na+ swaps for K+

Question 8

8. In a 12 week old foetus, which is the primary site of haematopoietic production?
   a. bone marrow
   b. liver
   c. spleen
   d. thymus
   e. yolk sac

Answer 8

B) liver

You Love a Smart Bunny
Yolk sac: 3-8 weeks
Liver:  6-24 weeks
Spleen: 8-28 weeks
BM: 18 wks to birth + adult

Question 9

How long does it take to completely reverse the effect of aspirin on platelets

a. 6h
b. 12h
c. 24h
d. 3 days
e. 7 days

Answer 9

Answer E, 7 days

Aspirin irreversibly binds to platelets. Life of platelet is 7 days. Therefore no have no effect on platelets have to have new platelets formed.

Question 10

11. (Question 11) Infection with strep pneumonia is most associated with deficiency in which component of the immune system
    a. antibody
    b. B cell
    c. T cell
    d. NK cell
    e. Complement

Answer 10

B) B cell.

Antibodies are made by B cells…
So could be A or B.
I guess “antibody” could imply deficiency in just one class, where as “b cell” is more generalized and therefore more likely to have strep pneumo infections- eg XLA
Answer B

Question 11

In a randomized control trial, an increase in the power of the study is most associated with

a. decrease in type 1 error
b. decrease in p value
c. increase in type 2 error
d. increased magnitude of effect of the intervention

Answer 11

B) decrease in p value

The power of a study is the probability of correctly rejecting the null hypothesis when it is false.
• As p value gets smaller the less likely the null hypothesis is true. So if you if you increase the power the p value will get smaller and less likely the null hypothesis is true (answer B)
• Low power often lead to increase in type 2 error (therefore C incorrect)
• Power does not impact type 1 error (false positives). (therefore a incorrect)

Question 12

17 year old boy with cystic fibrosis has exacerbation. Findings consistent with Pseudomonas aeruginosa. Started on oral ciprofloxacin. Which are the adverse effects seen with ciprofloxacin?

a. Dysuria
b. Haematuria
c. Hearing loss
d. Photosensitivity
e. Seizure

Answer 12

E, seizure

Cipro can cause both seizure (more common) and photosensitivity (rare%)
From AMH

Question 13

14. The pudendal nerve which supplies the external urethral meatus is supplied by which nerve roots
    a. L2, L3 and L4
    b. L4 and L5
    c. S2, S3 and S4
    d. S4 and S5

Answer 13

C, S2, S3 and S4

Question 14

13 year old boy presents with right sided lower limb weakness and mild right knee pain. No back pain. Has been playing computer games for hours. Normal tone. Weakness of dorsiflexion of ankle and toes with sensory loss of lateral calf extending to dorsum of foot.

Which nerve has been most likely affected?

a. Peroneal nerve
b. Tibial nerve
c. L4 nerve root
d. L5 nerve root
e. S1 nerve foot

Answer 14

A) peroneal nerve

Question 15

17. A study is being performed to assess the effectiveness of a new medication in the treatment of obesity. It is a first in humans study. The study designers are aiming to recruit 100 patients to assess the effectiveness of the drug. This is which phase of study
    a. Phase 1
    b. Phase II
    c. Phase III
    d. Phase IV
    e. Post marketing surveillance

Answer 15

A, phase 1

Question 16

What type of vaccine is the HPV?

a. Conjugated
b. live attenuated
c. inactivated
d. recombinant

Answer 16

Answer D- recombinant

Question 17

19. HPV injection protects 70% of cervical cancer from which serotypes?
    a. 16, 18
    b. 6, 11
    c. 4b, 11, 16

Answer 17

A, 16, 18

Question 18

) A baby with abdominal mass present since birth, found to be a teratoma .

Which tumour marker is most likely to be positive?

a. AFP
b. Neurone specific enlase
c. VMA
d. Urine catecholamines

Answer 18

A, AFP

Question 19

21. (Question 27) An 8 year old boy presents with a two day history of fever and diarrhoea, then the following rash on his legs and arms shown below.

Expected findings on skin biopsy would be:

a. Granular C1q staining around vesse
b. Granular C3 staining around vessels
c. Granular IgA staining around vessels
d. Linear IgG stainilsng between dermis and epidermis
e. Linear IgG staining

Answer 19

Answer C, Granular IgA staining around vessels

HSP

Question 20

Hereditary haemochromatosis is a recessive condition. The haemochromatosis carrier rate in the Australasian population is 1:10. What is the frequency of homozygosity?

a. 1 in 100
b. 1 in 200
c. 1 in 400
d. 1 in 800

Answer 20

Answer C- 1 in 400

10^2 x 4

Question 21

23. Which of the following mediates renal efferent vasoconstriction
    a. angiotensin II
    b. dopamine
    c. bradykinin
    d. PGE2
    e. Renin

Answer 21

Answer A, angiotens
in II
Effect on GFR: because the efferent areteriol has a smaller basal diameter than the afferent arteriol when the RAA system is activated (and causing vasoconstriction) this leads to greater resistance in the efferent arteriol compared to the afferent. This causes a reduction in renal blood flow and elevation of hydraulic pressure in the glomerular capillary- this then maintains GFR

Question 22

24. A child presents with foreign body embedded in forearm (volar aspect, distal ulnar aspect) and can’t flex PIPs of IF, MF, RF, LF – which structure has been damaged
    a. Flexor digitorum superficialis
    b. Flexor digitorum profundus
    c. ulnar nerve
    d. median nerve
    e. flexor carpi ulnaris

Answer 22

B, Flexor digitorum profundus

Question 23

26. Picture of boy trying to look right – right eye not abducted, left eye looks adducted but ?looking up as well

a. Right 6th nerve palsy
b. Internuclear ophthalmoplegia
c. Left 6th nerve palsy
d. Left CN3 palsy

Answer 23

Answer A- lateral rectus supplied by abducens (VI)

Question 24

27. Setting sun sign indicates compression of which structure
    a. Medial lemniscus
    a. Midbrain
    b. Cerebellar tonsils
    c. Abducens nerve
    d. Optic chiasm

Answer 24

Answer B- midbrain

Parinaud’s Syndrome results from injury, either direct or compressive, to the dorsal midbrain.

Question 25

Evidence for use of magnesium sulphate in preterm labour shows decrease in

a. Cerebral palsy
b. Mortality
c. Seizure
d. IVH
e. BPD

Answer 25

Answer A: CP

Numerous large clinical studies have evaluated the evidence regarding magnesium sulfate, neuroprotection, and preterm births. The Committee on Obstetric Practice and the Society for Maternal-Fetal Medicine recognize that none of the individual studies found a benefit with regard to their primary outcome. However, the available evidence suggests that magnesium sulfate given before anticipated early preterm birth reduces the risk of cerebral palsy in surviving infants.

Question 26

Craniopharyngiomas arise from

a. arachnoid membrane
b. hypothalamus
c. pars intermedia of pituitary
d. pineal gland
e. Rathke’s pouch

Answer 26

Answer E
Craniopharyngioma is a rare, usually suprasellar[4] neoplasm, which may be cystic, that develops from nests of epithelium derived from Rathke’s pouch.[5][6] Rathke’s pouch is an embryonic precursor of the anterior pituitary

Question 27

29. A child presents with anaemia. Blood film shows microcytic anaemia (MCV 64), mcHb 20/23, RDW 9 (normal >12%), Hb 99 (normal >105). This is most consistent with
    a. Beta thal trait
    b. Iron deficiency anaemia
    c. Sideroblastic anaemia
    d. Lead poisoning

Answer 27

Answer A, B thal trait

Microcytic anaemia with very low MCV (out of proportion with degree of anaemia, normal RDW <12%- if this was high would suggest iron deficiency)
C and D are unlikely

Question 28

30. Serum levels of which factor would differentiate between DIC and liver pathology?
    a. Factor 2
    b. Factor 7
    c. Factor 8
    d. Factor 9
    e. Factor 10

Answer 28

C) factor 8

II, VII, IX, X synthesized by liver.
Uptodate:
Severe liver disease – Liver disease severe enough to impair the hepatic synthesis of coagulation factors can cause a severe coagulopathy. Like DIC, severe liver disease is associated with reductions in both procoagulant and anticoagulant factors as well as thrombocytopenia; patients can have bleeding or thrombosis. The coagulation factor reductions and thrombocytopenia in severe liver disease are often caused by a combination of hypersplenism and thrombopoietin (TPO) deficiency, since the liver is the primary site of TPO synthesis. Unlike DIC, patients with severe liver disease typically present with a known source of liver injury (eg, acute hepatitis, alcoholic cirrhosis) and abnormal liver function tests, although transaminases may appear to normalize if liver synthetic function is severely impaired. Some clinicians consider factor VIII levels to be helpful because factor VIII is not produced by hepatocytes and thus is often low in DIC and high in severe liver disease. (See “Coagulation abnormalities in patients with liver disease”.)

Question 29

31. What patterns of blood results is consistent with haemorrhagic disease of the newborn what pattern of results
    a. High APTT, High PT, high TT
    b. High APTT, high PT, normal TT
    c. Normal APTT, High PT, normal TT
    d. Normal APTT, High PT, high TT

Answer 29

Answer C, Normal APTT, High PT, normal TT

Haemorrhagic disease newborn due to Vit K deficiency
On some assays APTT can be high also, but TT should not be affected as neonates have normal fibrinogen (as per pastest)

Question 30

32. Infliximab is a biologic agent used in the treatment of Crohn’s disease. It’s mechanism of action is
    a. Anti IL-2
    b. Anti B cell
    c. Anti TNF-alpha
    d. Anti T cell

Answer 30

C, Anti TNF-alpha

Question 31

33. Child with history of mild asthma and peanut allergy is exposed to a small amount of peanut butter at a birthday party. He is transferred by ambulance to hospital and during transfer has a persistent cough. On assessment in ED he alert and interactive, haemodynamically stable, no increased work of breathing, no rash or vomiting or diarrhea. On auscultation of his chest he has bilateral pronounced wheeze. The most appropriate treatment is
    a. Nebulised adrenaline
    b. IM adrenaline
    c. Nebulised salbutamol
    d. Prednisolone
    e. Cetirizine

Answer 31

C)Nebulised salbutamol

He technically does not have anaphylaxis. Therefore IM adrenaline not indicated. Would need observation. He does have features of bronchoconstriction though. As per RCH Melbourne
• Other therapies to consider
• Nebulised salbutamol is recommended if the patient has respiratory distress with wheezing or consider other antiasthma medications
• Anti-histamines may be given for symptomatic relief of pruritus. Second generation anti-histamines are preferred (promethazine can cause hypotension).
• Corticosteroids may be considered at the discretion of the treating physician, especially for bronchospasm, although the limited evidence available does not support their use.

Question 32

34. In patients with granulomatosis with polyangiitis (Wegener’s), ANCA is often positive. What is the target antigen of ANCA
    a. Myeloperoxidase
    b. Catalase
    c. Elastase
    d. Lactoferrin
    e. Proteinase

Answer 32

Answer E: proteinase
• The most commonly identified and evaluated antigens in GPA are the following two proteins:
o Proteinase 3 (PR3), which is observed in 70 to 80 percent of patients
o Myeloperoxidase (MPO), which is the target in approximately 10 percent of patients

Question 33

36. Child with exocrine pancreatic insufficiency, absorption of which is least affected (repeat question)
    a. Fat
    b. Carbohydrates
    c. Protein
    d. Vit D
    e. Vit E

Answer 33

Answer B: carbs

The exocrine pancreas produces 3 main types of enzymes: amylase, protease, and lipase.[1] Under normal physiologic conditions, the enzymes (specifically, lipase) break undigested triglycerides into fatty acids and monoglycerides, which are then solubilized by bile salts (see Pathophysiology). Because the exocrine pancreas retains a large reserve capacity for enzyme secretion, fat digestion is not clearly impaired until lipase output decreases to below 10% of the normal level.

CHO metabolism- starch is broken down by amylase (produced by pancreas) but also mono and disscharides broken down at gut wall… therefore CHO least affected.

Question 34

37. 6 week baby check, baby has total bili of 180, conjugated 40. What is the next most appropriate intervention in determining the diagnosis
    a. percutaneous cholangiogram
    b. US
    c. nuclear scintigraphy
    d. percutaneous liver biopsy

Answer 34

B) US

initially US, more definitive nuclear scintigraphy and biopsy

Question 35

38. Zinc can be used in the management of Wilson’s disease. What is it’s mechanism of action.
    a. Chelate copper
    b. Decrease absorption of copper in GIT
    c. Increase hepatic excretion of copper
    d. Increase levels of caeruloplasmin
    e. Increase renal excretion of copper

Answer 35

Answer B
Oral zinc interferes with the absorption of copper, providing a rationale for its use in Wilson disease. Zinc induces metallothionein (an endogenous chelator of metals) in enterocytes, which has a greater affinity for copper than for zinc, causing it to bind luminal copper and thereby preventing its entry into the circulation [49,50]. The bound copper is excreted fecally during normal turnover of enterocytes. Copper secreted from saliva and gastric and intestinal secretions is also bound, thereby further enhancing a negative copper balance

Question 36

Phototherapy is commonly used in the management of unconjugated hyperbilirubinaemia. The predominant mechanism of action is

a. Increased production of urobilinogen which can be renally excreted
b. Intramolecular cyclisation to form lumirubin
c. Decreased binding of bilirubin to albumin
d. Geometric photoisomerisation of bilirubin
e. Oxidation of bilirubin to form biliverdin and dypyrroles allowing excretion

Answer 36

D)

Photo-isomerization: converting the toxic native unconjugated bilirubin to unconjugated configurational isomer which can than be excreted by the kidneys in the unconjugated state.

Question 37

40. 12yo girl with a seizure, developmental regression, found to be deficient in sphingomyelinase. The underlying diagnosis is
    a. Niemann Pick
    b. Fabry disease
    c. Gaucher disease
    d. Tay Sachs
    e. Tyrosinaemia

Answer 37

Answer A
Niemann-Pick disease (NPD) is a lipid storage disorder that results from the deficiency of a lysosomal enzyme, acid sphingomyelinase. The original description of NPD referred to what is currently termed NPD type A, which is a fatal disorder of early childhood characterized by failure to thrive, hepatosplenomegaly, and a rapidly progressive neurodegenerative course that leads to death by age 2-3 years.
Since this original description, other forms of NPD have been described. NPD type B is a milder, nonneuronopathic form with later onset and longer survival, sometimes into adulthood. NPD type C, a rarer form, results from defects in cholesterol metabolism. Both NPD types A and B are inherited as autosomal recessive traits.

Question 38

A child has an abnormal haemoglobin mutation resulting in high affinity for oxygen. What will be the findings on haemoglobin and erythropoietin on blood analysis:

a. High Hb high EPO
b. High Hb low EPO
c. Low Hb high EPO
d. Low Hb low EPO
e. Normal Hb high EPO

Answer 38

A)

A less common cause of secondary polycythemia is the presence of a high-oxygen-affinity hemoglobin. Hemoglobins with increased oxygen (O2) affinity commonly result in erythrocytosis caused by an O2 unloading problem at the tissue level. The most common symptoms are headache, dizziness, tinnitus, and memory loss. The affected individuals are plethoric, but not cyanotic. Patients with a high-oxygen-affinity hemoglobin may present with an increased erythrocyte count, hemoglobin concentration, and hematocrit, but normal leukocyte and platelet counts. The p50 and 2,3-bisphosphoglycerate (2,3-BPG, also known as 2,3-DPG) values are low. Changes to the amino acid sequence of the hemoglobin molecule may distort the molecular structure, affecting O2 transport and the binding of 2,3-BPG. 2,3-BPG is critical to O2 transport of erythrocytes because it regulates the O2 affinity of hemoglobin. A decrease in the 2,3-BPG concentration within erythrocytes results in greater O2 affinity of hemoglobin and reduction in O2 delivery to tissues. A few cases of erythrocytosis have been described as being due to a reduction in 2,3-BPG formation.

Tissue hypoxia (due to decreased release of O2- because of higher O2/Hb binding affinity) causes increased EPO.

Question 39

) A doctor trying to test out a new test compared to the current gold standard. What is the positive LR of this test: 
	Gold std +  Gold std -
Test +	80	     90
Test -	20	     810
	       100	    900

a. 1.7
b. 2
c. 8
d. 9
e. 10

Answer 39

Answer C= 8
80/100/1-810/900
=0.8/0.1
=8

Question 40

The main principle when initiating Maudsley’s model of treating anorexia nervosa

a. Identifying comorbid conditions
b. Identifying the family situation
c. Empowering the patient to take control of their eating habits
d. Empowering the parents to take control of the child’s eating habits

Answer 40

D, Empowering the parents to take control of the child’s eating habits

Question 41

44. What is an SNP (single nucleotide polymorphism)
    a. Single base pair with variation in the population
    b. Codon with variation in the population
    c. Short DNA sequence with minimal variation in the population
    d. Long DNA sequence with miminal variation in the population

Answer 41

Answer A, Single base pair with variation in the population

A Single Nucleotide Polymorphism (SNP, pronounced snip; plural snips) is a DNA sequence variation occurring commonly within a population (e.g. 1%) in which a single nucleotide — A, T, C or G — in the genome (or other shared sequence) differs between members of a biological species or paired chromosomes.

Question 42

45. CGH microarray can reliably be used to diagnose
    a. Triplet repeat expansion
    b. Microdeletion
    c. Point mutation
    d. Mosaicism
    e. Balanced translocation

Answer 42

B) microdeletion

Question 43

46. Spirometry is performed on a child, results below. Image and numbers. FEV1/FVC of 72%, FVC of 82% total. This is most consistent with
    a. Mild restrictive disease
    b. Mild obstructive disease
    c. Mild obstructive and moderate restrictive disease
    d. Moderate obstructive and mild restricitive disease
    e. Normal spirometry

Answer 43

b. Mild obstructive disease

Question 44

47. Which increases haemoglobin affinity for oxygen
    a. Carbon monoxide inhalation
    b. Raised temp
    c. Raised pCO2
    d. Acidosis,
    e. Raised 2,3-DPG

Answer 44

a. Carbon monoxide inhalation

Question 45

48. Thiazides act on which channel
    a. Sodium-potassium-chloride co-transporter
    b. Sodium-chloride channel
    c. Epithelial sodium channel
    d. Carbonic anhydrase

Answer 45

b. Sodium-chloride channel

Question 46

49. Returned traveller from Bali, has fever, myalgia, diarrhea. The most likely diagnosis is
    a. Malaria
    b. Dengue
    c. Typhoid

Answer 46

a, ?malaria

Depends on timing
• Malaria doesn’t classically cause diarrhea, neither does dengue
o Malaria can cause diarrhea though…basically can cause anything
• Typhoid is fever, abdo pain and chills
Answer is probably malaria

Question 47

50. Which is an obligate intracellular organism
    a. Chlamydia
    b. Gonorrhoea
    c. Mycoplasma
    d. Mycobacterium

Answer 47

answer A
This group of bacteria can’t live outside the host cells. For e.g. Chlamydial cells are unable to carry out energy metabolism and lack many biosynthetic pathways, therefore they are entirely dependent on the host cell to supply them with ATP and other intermediates. Because of this dependency Chlamydiae were earlier thought to be virus (All viruses are obligate intracellular parasites). Obligate intracellular bacteria cannot be grown in artificial media (agar plates/broths) in laboratories but requires viable eukaryotic host cells (eg. Cell culture, embryonated eggs, susceptible animals).

Others include coxiella brunetti and ricketsiea

Question 48

52. Weakness of which muscle group causes Trendelenberg gait?
    a. Hip abductors
    b. Hip adductors
    c. Hip flexors
    d. Hamstrings

Answer 48

Answer A
The Trendelenburg gait pattern (or gluteus medius lurch) is an abnormal gait (as with walking) caused by weakness of the abductor muscles of the lower limb, gluteus medius and gluteus minimus. People with a lesion of superior gluteal nerve have weakness of abducting the thigh at the hip.

Question 49

53. Which hormone, in excess, would lead to small testes and reduced spermatogenesis?
    a. Prolactin
    b. FSH
    c. LH
    d. Testosterone

Answer 49

Answer A- prolactin

The main hormones that control spermatogenesis are follicle-stimulating hormone (FSH) and testosterone. FSH receptors are present in Sertoli cells and spermatogonia, and androgen receptor (AR) is present in Sertoli cells, Leydig cells, and peritubular myoid cells. FSH acts directly on the Sertoli cell to increase production of androgen-binding protein, transferrin, inhibin B, CYP19, and plasminogen activators [53]. FSH also enhances glucose transport and the conversion of glucose to lactate in Sertoli cells.
The production of testosterone in Leydig cells under the control of luteinizing hormone (LH) results in an intratesticular testosterone concentration approximately 100 times greater than that in the peripheral circulation. Sertoli cells contain AR, and a Sertoli cell-selective knockout of AR in mice causes spermatogenic arrests in meiosis.

Therefore LH and FSH are not the answer.

Factors that influence spermatogenesis include neuropeptides, vasoactive peptides, growth factors, and immune-derived cytokines.

Prolactin also has a complex inter-relationship with the gonadotropins, LH and FSH. In males with hyperprolactinemia, the prolactin tends to inhibit the production of GnRH. Besides inhibiting LH secretion and testosterone production, elevated prolactin levels may have a direct effect on the central nervous system. In individuals with elevated prolactin levels who are given testosterone, libido and sexual function do not return to normal as long as the prolactin levels are elevated.

Question 50

54. TSH shares its alpha subunit with which other hormone
    a. LH
    b. GH
    c. TSH
    d. Prolactin

Answer 50

A) LH

The α (alpha) subunit (i.e., chorionic gonadotropin alpha) is nearly identical to that of human chorionic gonadotropin (hCG), luteinizing hormone (LH), and follicle-stimulating hormone (FSH). The α subunit is thought to be the effector region responsible for stimulation of adenylate cyclase (involved the generation of cAMP).[6] The α chain has a 92-amino acid sequence.

The 3 human pituitary glycoprotein hormones: luteinizing hormone (LH), follicle-stimulating hormone (FSH), thyrotropin (TSH), and the placenta-derived chorionic gonadotropin (hCG), are closely related tropic hormones. They signal through G-protein-coupled receptors, regulating the hormonal activity of their respective endocrine target tissues. Each is composed of an alpha- and a beta-subunit, coupled by strong noncovalent bonds.The alpha-subunits of all 4 hormones are essentially identical (92 amino acids; molecular weight [MW] of the “naked” protein:10,205 Da), being transcribed from the same gene and showing only variability in glycosylation

Question 51

55. Narcolepsy is most likely to present with which of the following symptoms
    a. Cataplexy
    b. Hynogogic hallucinations
    c. Day time sleepiness
    d. Snoring

Answer 51

C, day time sleepiness

All can occur but day time sleepiness seems to be the most common theme..
Cataplexy — Cataplexy is emotionally-triggered transient muscle weakness.
Hypnagogic hallucinations — Hypnagogic hallucinations are vivid, often frightening visual, tactile, or auditory hallucinations that occur as the patient is falling asleep

The symptoms of narcolepsy can appear all at once or they can develop slowly over many years. The four most common symptoms are: excessive daytime sleepiness, cataplexy, sleep paralysis, and hypnagogic hallucinations. In some cases, excessive daytime sleepiness is the only symptom.

EDS (excessive day time sleepiness) is usually the first symptom of narcolepsy. People with narcolepsy often report feeling easily tired or tired all the time. They tend to fall asleep not only in situations in which many normal people feel sleepy (after meals or during a dull lecture), but also when most people would remain awake (while watching a movie or writing a letter). People with narcolepsy may also have a “sleep attack” at a very unusual and sometimes dangerous time (while in the middle of a conversation or driving a car)

Question 52

56. You want to assess the effects of in utero exposure to smoking, alcohol and cocaine on childhood growth. What is the best study for this
    a. Case-control
    b. Prospective cohort study
    c. Ecological
    d. Cross sectional

Answer 52

Answer B- cohort
• Prospective cohort study- exposed versus not exposed
• Case control: Look at those with disease versus those without
• Ecological
• Cross section- survey of frequency of disease or risk factor at a defined period of time

Question 53

59. Child with hypopituitarism is commenced on full hormone replacement. He presents 2 weeks later with headaches, nausea, vomiting and blurred vision. Which hormone is most likely to be responsible for this presentation?
    a. Cortisol
    b. Thyroxine
    c. Testosterone
    d. growth hormone

Answer 53

D) GH

Growth hormone can cause severe headache, blurred vision, vomiting.

Question 54

58. How much 50% dextrose would you need to add to a 500mL bag of N/S to make up 0.9% saline + 5% dex
    a. 10ml
    b. 20ml
    c. 50ml
    d. 100ml

Answer 54

Answer D= 100ml

You want to add 50g (or 100ml) of 50% dextrose to 1000mL to make 5% dextrose)

Question 55

60. Audiogram shown – normal bone conduction bilaterally but decreased air conduction. The most likely cause is
    a. Bilateral OM with effusion
    b. Central auditory processing disorder
    c. Aminoglycoside toxicity

Answer 55

A) BL conductive loss

a. Bilateral OM with effusion
b. Central auditory processing disorder
c. Aminoglycoside toxicity

Question 56

61. For which of the following is therapeutic monitoring most useful
    a. Valproate
    b. Phenobarbitone
    c. Carbemazepine
    d. Lamotrigine

Answer 56

?Answer c

Or B

Question 57

62.	Which of the following has the slowest clearance
Drug	Vd (L)	½ life (h)
B	Phenytoin	0.5	22
C		2.5	2.5
D		1	3
E	Azathioprine	33	68

Answer 57

Answer phenytoin

0. 5/22= very small
   number. Ie 0.02L/hr cleared

Azathioprine 33/68=0.5L/hr cleared. I.e. cleared more quickly

t½ = Vd/Clearance
Clearance =  Vd/t½ 
Cl = 0.693 x Vd/t½

Question 58

63. Adolescent was treated for nausea and vomiting, now has tongue thrusting, is feeling stiff and has trouble walking. What medication would you give:
    a. Benztropine
    b. Benzodiazepine
    c. Flumazenil
    d. Haloperidol
    e. Olanzepine

Answer 58

A

Question 59

Earliest serological marker for Hep B infection

a. HBCore Ag
b. HBSAb
c. HBEAb
d. HBeAg
e. HBSAg

Answer 59

E) HBSAg

The first serologic marker to appear is hepatitis B surface antigen (HBsAg), which can initially be detected in serum from 1 to 12 weeks (average, 30 to 60 days) after infection. Shortly thereafter, hepatitis B e antigen (HBeAg) generally becomes evident[6,7]. Although serum HBV DNA assays will show the presence of HBV DNA prior to the appearance of HBsAg or HBeAg, with HBV DNA levels often exceeding 10 to 100 million IU/ml, this test is not generally performed for the purpose of diagnosing acute HBV infection.

Question 60

Antimicrobial stewardship aims to use antibiotics with the narrowest spectrum appropriate. What is the best reason to use 2nd gen cephalosporin over 1st gen e.g. cephalexin

a. Improved gram negative cover
b. Covers penicillin-resistant strep pneumoniae
c. Better CNS penetration
d. Better pseudomonas coverage

Answer 60

a. Improved gram negative cover

Question 61

67. Which of these cytokines is made by lymphocytes and can be measured in an assay for Mycobacterium tuberculosis?

A	Interferon alpha
B	Interferon gamma
C	IL-1
D	IL-2
E	IL-7
F	IL-12
G	IL-17
H	TNF alpha

Answer 61

Answer B- interferon gamma
Interferon gamma release assays — IGRAs are in vitro blood tests of cell-mediated immune response. These assays have greater specificity than TST for diagnosis of LTBI and are most useful for evaluation of LTBI in BCG-vaccinated individuals

Question 62

68. Which has function of causing differentiation of T cells from haematopoetic stem cells, failure of which results in severe combined immunodeficiency?

A	Interferon alpha
B	Interferon gamma
C	IL-1
D	IL-2
E	IL-7
F	IL-12
G	IL-17
H	TNF alpha

Answer 62

Answer D IL2

IL-6 actually causes T and B cell proliferantion and differentiation. Not an option listed. But deficiency in IL2 is worse.

SCID VARIANTS
Interleukin-2 receptor alpha chain (CD25) deficiency — At least three patients have been described with lesions in the interleukin-2 receptor alpha (IL2RA) gene located on chromosome 10p15.1 (MIM #147730) encoding the alpha chain (CD25) of the IL-2 receptor

Question 63

Which correspond to the following: 4th heart sound
A	Isovolumetric contraction
B	Early systole
C	Mid systole
D	Late systole
E	Early diastole
F	Mid diastole
G	Late diastole

Answer 63

G Late diastole

Question 64

Which correspond to the following: MV prolapse

A	Isovolumetric contraction
B	Early systole
C	Mid systole
D	Late systole
E	Early diastole
F	Mid diastole
G	Late diastole

Answer 64

C Mid systole

Question 65

17. Key feature of depression in adolescents that is not often present in adults
    a. Difficulty concentrating
    b. Helplessness and hopelessness
    c. Insomnia
    d. Irritable mood
    e. Altered appetite

Answer 65

Answer D, irritable mood
•	At least a 2 week period of:
•	low mood
•	anhidondonia
o	sleep disturbance
o	fatigue
o	changes in appetite
o	feeling of worthlessness
o	difficulty concentrating
o	suicidal ideation
	suicide is the third leading cause of death in adolesents
	60% of adolescents will think about suicide
•	children specific:
o	irratibility
o	somatic symptoms: headache, abdo pain etc

Question 66

18. 7yo child presents with symptoms consistent with ADHD. His mother demands you “fix” him and school are refusing for him to return to school “until he’s on Ritalin”. The most appropriate next step is
    a. Commence methylphenidate
    b. Family therapy
    c. Assess family relationships
    d. Obtain collaborative history from school teachers

Answer 66

d. Obtain collaborative history from school teachers

Family therapy and stimulants will probably help but need to have collaborative history for diagnosis- makes sure not missing something else.
Medication alone in the treatment of ADHD has been shown to be as good as combined treatment (NZ lecture)

Question 67

19. Which of the following is most predictive of autism in a 2yo child
    a. Not pointing to indicate interest in an object
    b. Not able to communicate need to use bathroom to mum
    c. Distressed by bright lights
    d. Distressed by loud sounds
    e. Distressed by physical contact

Answer 67

A) Not pointing to indicate interest in an object

Question 68

20. Hereditary haemochromatosis is a recessive condition. The haemochromatosis carrier rate in the Australasian population is 1:10. What is the frequency of homozygosity?
    a. 1 in 100
    b. 1 in 200
    c. 1 in 400
    d. 1 in 800

Answer 68

C) 1:400

1/10 x 1/2 x 1/10 x 1/2

Question 69

21.	A child had a small erythematous area on the scalp at birth. It has enlarged significantly over the last 3 months and is now ulcerating 
The most appropriate treatment is
a.	Propranolol
b.	Interferon alpha
c.	Laser therapy
d.	Intralesional corticosteroids
e.	Systemic corticosteroid

Answer 69

A) propranolol

Treat if ulceration, functional or cosmetic impairment.
o Treat in about 10%
o Treat with propanolol!
o Unclear mechanism. Antiangiogenic effect.
o S/E: cardiac, hypoglycaemia, GI, bronchial hyperreactivity, mild speech delay, strabismus, sleep disturbance

Question 70

22. Pedigree of CF in a family, population carrier risk is 1:25. What is the risk for the person with the arrow.
    [mum at risk of being carrier, dad is population based]

a. 1 in 25
b. 1 in 100
c. 1 in 400
d. 1 in 800

Answer 70

C) 1/400 
if the question is what is the risk of the person being effected (not carrier)
•	mother of affected- must be a carrier
•	therefore grandmother 50% chance carrier
•	therefore aunt 50% chance carrier
•	population risk 1/25
•	risk of actually getting disease ¼
•	ie: ½ x ½ x 1/25 x ¼
•	=1/400

Question 71

23. CGH microarray can reliably be used to diagnose
    a. Triplet repeat expansion
    b. Microdeletion
    c. Point mutation
    d. Mosaicism
    e. Balanced translocation

Answer 71

b. Microdeletion

Question 72

24. Child with seizures has subependymal nodules and hypomelanocytic skin lesions. Examination of her mother reveals peri-ungual fibromas. The most likely explanation for this is
    a. Germline mosaicism in the mother
    b. Both have the familial mutation with variable expressivity
    c. Both have the familial mutation with incomplete penetrance
    d. De novo mutation in the daughter
    e. Both have the familial mutation with complete expressivity

Answer 72

Describing TS which is AD.

Answer B- variable expressivity
Incomplete penetrance means someone does not have the phenotypic features at all.
Penetrance means you either express the phenotype or you don’t

Question 73

26. Newborn delivered at 30/40 gestation is intubated and ventilated for several days. Feeds are commenced and after 48-72h, baby develops bilious aspirates and abdominal distension. Xray is shown below - pneumoperitoneum.

This is consistent with

a. Malrotation with volvulus
b. Hirschprung’s disease
c. NEC
d. Idiopathic intestinal performation

Answer 73

c. NEC

Question 74

27. 8mo girl presents with persistent neutropenia detected after being treated with oral antibiotics for cellulitis at a vaccination site. She has had several presumed viral URTIs but is otherwise well. Her height and weight are on the 25th centile for age. Weekly bloods are shown (over a period of 3 months) show neutropaenia, neuts 0.1-0.44 on weekly sampling. All other cell lines are normal. The most likely cause is
    a. Autoimmune neutropaenia
    b. Drug induced neutropaenia
    c. Cyclical neutropaenia
    d. Severe congenital neutropaenia

Answer 74

Most likely A) autoimmune neutropaenia

Not cyclical as persistently low.
Severe congenital neutropenia would be sicker
Could be drug induced (eg fluclox)- but after stopping the offending drug usually improves after 1-3 weeks, but can be variable (as per uptodate)

• Most common cause will be viral illness
• Drugs: flucloxacillin
• chronic benign neutropenia
o associated with minor infection
o <4yo
o positive anti neutrophil autoantibodies
o 95% remit in 7-24 mths
 also consider racial differences. Eg black
o refer at 1month
o usually don’t get recurrent infections, gingivitis (so… if they are symptomatic think about another cause)

Question 75

28. A child with history of presumed cows milk protein intolerance is being investigated for recurrent bruising and mucocutaneous bleeding. Blood results show thrombocytopaenia – Plts 30, platelet size 4 (N range 9.7-12.5).
    a. Bernard-Soulier syndrome
    b. Glanzmann thrombasthaenia
    c. Wiskott-Aldrich
    d. Kasabach-Merritt syndrome
    e. ITP

Answer 75

C) WAS

Tiny platelets= Wiskott Aldrich
o	X linked- mutation of WAS gene
o	Immunodeficiency- recurrent infections
o	Eczema
o	Tiny platelets
	Splenectomy often improves thrombocytopenia

Bernard Souliar aka macrothrombocytopenia
o AR
o Mildly low platelets
o Plt function disorder
o Prolonged PFA100
o Giant sized platelets
ITP- usually large platelets
Kasabach-Merritt- story doesn’t fit and doesn’t say anything about coagulopathy/haemangioma/soft tissue swelling.
Glanzmann
o An acquired platelet dysfunction disorder. Auto/allo antibody mediated.
o Have normal platelet number but abnormal platelet function and abnormal coags (as per pastest)

Question 76

30. Child with mild eczema and 2x peri-anal abscesses, what test will likely lead to identification of the underlying diagnosis
    a. Flow cytometry for lymphocyte subsets
    b. Dihydrorhodamine Test
    c. Antibody levels
    d. Full blood count
    e. CH50

Answer 76

B) dihydrorhodamine test

CGD
Symptoms
often appear in first year of life with recurrent pyogenic infections
recurrent infection with catalase-positive organisms
pneumonias
aspergillosis
skin abscesses
pulmonary abscesses
chronic diarrhea
failure to thrive
Physical exam
short stature
eczematoid dermatitis
hepatomegaly

Question 77

31. Which is most suspicious for NAI?
    a. Spiral # of long bone
    b. Anterior rib #
    c. Posterior rib #
    d. Parietal skull #
    e. Transverse fracture of long bone

Answer 77

C) posterior rib

Question 78

32. Which is NOT implicated in the pathogenesis of primary monosymptomatic nocturnal enuresis
    a. Nocturnal polyuria
    b. Sleep arousal
    c. Bladder capacity
    d. Constipation
    e. Detrusor instability

Answer 78

D) constipation

Primary= never been dry
Monosymptomatic= only wet at night
Constipation is associated with secondary nocturnal enuresis- implying an underlying cause

Question 79

33.	Teenage boy presents with a lesions on his back that has recently started to bleed. Picture of a lesion (similar to below but on a shoulder).   
What is it?
a.	Mastocytoma
b.	Capillary Haemangioma
c.	Pyogenic granuloma
d.	…?

Answer 79

C) Pyogenic granuloma. Usually painless but people present due to persistent bleeding.

Question 80

34. What is the relative potency of dexamethasone relative to prednisone
    a. 1:4
    b. 1:6
    c. 1:1
    d. 4:1
    e. 6:1

Answer 80

e. 6:1

dexamethasone is 6x more potent than pred

Question 81

1. Febrile toxic looking child with deterioration over 24h, inspiratory stridor, lateral airways XR show below ?steeple sign

What is the diagnosis?

a. Bacterial tracheitis
b. Epiglottitis
c. Retropharyngeal abscess
d. Laryngotracheobronchitis

Stridor and toxic looking with ?normal xray. This xray doesn’t show any soft

Answer 81

B) epiglottitis

Stridor and toxic looking with ?normal xray. This xray doesn’t show any soft tissue swelling…

Question 82

36. A 6mo child with presents with stridor, which her mother reports is becoming progressively worse. She has a normal cry but difficulty with feeding which is also worsening. CXR shown (similar to below but with no arrow and not so obvious)

The most likely diagnosis is

a. Laryngomalacia
b. Vascular ring
c. Vocal cord paresis
d. Tracheomalacia

Answer 82

B) vascular ring

Trachea deviated and midline mass/abnormal mediastinum. Other options don’t fit with history provided.
Most common is double aortic arch (complete vascular ring)- causes stridor, respiratory distress, may not have heart features, swallowing dysfunction, reflex apnoea.

Question 83

37. A 2yo child with a gastrostomy and spastic quadriplegia presents having tolerated overnight feed but now tube has extruded. The aperture look small. The child is otherwise well. What is the next most appropriate step in management.
    a. Insert NGT and start feeds
    b. Reinsert gastrostomy button
    c. Insert Foley catheter
    d. Await surgical review

Answer 83

c. Insert Foley catheter

Question 84

38. A 2yo with speech delay needs a hearing assessment, which method is best
    a. Behavioural observation audiometry
    b. Play audiometry
    c. Otoacoustic emissions
    d. Pure tone audiometry
    e. Visual reinforcement audiometry

Answer 84

A?

A) behavioural observation audiometry: 8 month - 2yo
A simple behavioural audiometry test that includes the use of hand-held sound stimuli representing various frequency ranges (for example a drum, rattle, bell, etc.). This test is used to observe the infant’s behaviour in response to certain sounds.

B) play audiometry: 2-3 year old
headphone testing used on infants and young children mature enough to tolerate this test strategy, which provides specific information about the hearing loss. The test is often made into a game and the child is asked to do something with a toy (e.g. touch a toy) every time a sound is heard. The test thus relies on the active participation of the toddler.

Question 85

39. 3mo baby presents with respiratory distress, treated as bronchiolitis. He deteriorates, requiring intubation and ventilation. He is subsequently diagnosied with PCP, has lowish IgG (30), very low IgA (<0.07), normal IgM (1.1), normal lymphocyte subset counts, normal FBC/EUC. The most likely diagnosis is
    a. SCID
    b. IgA deficiency
    c. X-linked agammaglobulinaemia
    d. Hyper IgM
    e. Omenn Syndrome

Answer 85

d. Hyper IgM

Normal lymphocytes and lymphocyte subsets makes SCID unlikely. IgA usually don’t have severe (PCP) presentation.
XLA- cant be as normal lymphocyte subsets (would show absence of B cells)
Omenn is a variation of SCID.
Hyper IgM- can get PCP classically (marked susceptibility to PCP)
• The IgG is not abnormal yet because it is still maternal. Would expect IgG level to decrease in the next 1-2 months as maternal abs go.

Question 86

40. Baby with eczema, polyuria/polydipsia diagnosed with DM, diarrhoea since one week of age, low platelet count (?50), Coombs positive
    a. APECED
    b. ITP
    c. IPEX
    d. Wiskott-Aldrich

Answer 86

c) ipex

Haemolytic anaemia, ITP, diabetes (AI), enteropathy

Immunodysregulation polyendocrinopathy enteropathy X-linked (or IPEX) syndrome is a rare disease linked to the dysfunction of the transcription factor FOXP3, widely considered to be the master regulator of the regulatory T cell lineage.[4][5] It leads to the dysfunction of regulatory T-cells and the subsequent autoimmunity.[6] The disorder is one of the autoimmune polyendocrine syndromes and manifests with autoimmune enteropathy, psoriasiform or eczematous dermatitis, nail dystrophy, autoimmune endocrinopathies, and autoimmune skin conditions such as alopecia universalis and bullous pemphigoid.[

Question 87

43. 2 year old girl with impaired fine motor function and contractures of ?DIPs. She has otherwise normal neurological and rheumatological examination. Picture is shown of hands ?contractures picture shows tight shiny fingers and facial appearance ?significant features ?very mildly coarse facies. The most likely diagnosis is
    a. Mucopolysacharridosis
    b. Dermatomyositis
    c. Systemic sclerosis
    d. JIA

Answer 87

Answer B, dermatomyositis

?If over extensor surfaces then most likely showing gottrons papules- as seen in dermatomyositis

Question 88

44. 11yo girl presents with difficulties with fine motor activities. She presents now with dysphagia. A picture of her hands is shown (similar to below, younger hands). The most likely diagnosis is

a. Dermatomyositis
b. Systemic sclerosis
c. Rheumatoid arthritis
d. Psoriatic arthritis

Answer 88

b. Systemic sclerosis

Question 89

45. A child presents with physical features suggestive of Marfan syndrome, including wide arm span and high arched palate. Which test is needed to confirm diagnosis
    a. Skeletal survey
    b. Fundoscopy
    c. Echo
    d. Angiography

Answer 89

D) angio

slit lamp for lentis ectopia

Ghent criteria for diagnosising marfans:
• In the absence of family history aortic root dilation + ectopia lentis, FBN1 mutation or systemic score>7
• With family history
o Ectopia lentis
o Systemic score>7
o Aortic root dilatation

Question 90

47. A child with severe haemophilia A has been having twice weekly factor replacement. He presents with headaches and vomiting after hitting his head in the playground the day prior. His parents had not presented at the time of the incident as he had been given the same day. On presentation to hospital, CT scan confirms intracranial haemorrhages. Examination also shows multiple bruises of varying ages over his back and trunk. Blood results taken 16h post last factor infusion show serum level is 0.01 (N5-25). The most likely cause is
    a. NAI
    b. Development of Factor VIIII inhibitor
    c. Inadequate frequency of replacement
    d. Inadequate dosing

Answer 90

D) inadequate dosing

Inadequate dosing given trauma. Dosing twice weekly is a prophylactic dose only. In head trauma want to give 100% cover- ie work out dose to replace 100%

Question 91

48. 15 year old girl with a 6 week history of abdominal pain and bloody diarrhea. She presents looking significantly unwell with fever to 38.5, BP 90/50, abdominal pain with generalised guarding, AXR is shown below.
    What is the most likely diagnosis?a. Appendiceal abscess
    b. Volvulus
    c. Toxic megacolon
    d. Intestinal perforation

Answer 91

Answer C

History suggestive of UC. Associated with toxic megacolon

Question 92

49. Newborn baby is floppy, has wide anterior fontanelle and large forehead, Brushfield spots but fundoscopy otherwise normal, umbilical hernia and club feet, X-ray shows punctate bone lesion.

The likely diagnosis is

a. Zellweger syndrome
b. Prader Willi syndrome
c. Congenital myotonic dystrophy
d. Hypothyroidism
e. Smith-Lemli-Optiz

Answer 92

A) zellweger syndrome

Brushfield spots are white/grey lesions around the iris that can be seen in normal children but also seen frequently in T21.
This picture doesn’t look like T21 so difficult to answer Q.
Prev q: “A male infant is born at term, weighing 2200 g. He is noted to have profound hypotonia and absent reflexes. He has moderately severe hepatomegaly. His facial appearance is shown above.”

Zellweger- perosixdase disorder:
•	High forehead
•	Large anterior fontanelle
•	Separated cranial sutures
•	Hypoplastic supraorbital ridges
•	Upward slant of eyes
•	Epicanthal folds
•	Low and broad nasal bridge
•	High arched palate
•	Defored ear lobes
•	Heapatomegaly
•	Cirrhosis
•	Biliary dysgenesis
•	Calcific stippling of the patellae, chondrodysplasia punctate

Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple anomaly syndrome caused by an abnormality in cholesterol metabolism resulting from deficiency of the enzyme 7-dehydrocholesterol (7-DHC) reductase. It is characterized by prenatal and postnatal growth retardation, microcephaly, moderate to severe intellectual disability, and multiple major and minor malformations. The malformations include distinctive facial features, cleft palate, cardiac defects, underdeveloped external genitalia in males, postaxial polydactyly, and 2-3 syndactyly of the toes. The clinical spectrum is wide and individuals have been described with normal development and only minor malformations.

Question 93

50. What is the most common co-morbidity in hyperactive type ADHD?
    a. OCD
    b. Conduct Disorder
    c. ODD
    d. Tourette’s syndrome

Answer 93

C) ODD
Many will have a coexisiting behavioural or emotional disorder such as oppositional defiant disorder (frequent), conduct disorder (one third), depression (30%), anxiety (20-30%), learning disability

Question 94

51. An African boy (refugee) is screened for and is positive for Strongyloides.

What is the most appropriate treatment?

a. Albendazole
b. Ivermectin
c. Nitazoxanide
d. Praziquantel
e. Mebendazole

Answer 94

B) ivermectin (if >15 kg)

otherwise albendazole

Question 95

52. 14yo boy presents with unilateral cervical lymphadenopathy, weight loss and back pain. He has weakness of his hip flexors. MRI is performed showing extradural mass T12-L2 (similar to shown below although lumbar spine as described).

He wakes up from MRI unable to move his lower limbs. The most likely diagnosis is

a. Burkitt Lymphoma
b. Tuberculosis

Answer 95

?TB

Question 96

53. Baby is born at term in good condition with Apgars of 8 and 9. He is found by a midwife several hours later apneic and cyanosed. He is quickly intubated. He is found to breath normally when awake but fails to breathe when asleep. Abdominal xray is also performed as shown below.

The most likely diagnosis is

a. congenital central hypoventilation
b. SMA
c. Congenital myotonic dystrophy
d. Prader Willi

Answer 96

Answer A. Central hypoventilation worse when asleep (ondines curse). Others may have respiratory features while awake.
• Usually present in infancy with apnoea and cyanosis
• Ventilation is better when awake
• Developmental delay occurs due to repeated hypoxic injury
• Can be associated with other autonomic nervous system problems (hirschprungs, neural crest tumours, iris problems, cardiac arrhythmias)

Question 97

54. Baby with murmur, spO2 92%, 4mo, slow weight gain, systolic murmur at ?LUSE and soft diastolic mumur. CXR shown below.

The most likely diagnosis is

a. AVSD
b. Truncus
c. Tetraology
d. TGA

Answer 97

?B, truncus

other prev q: “A four-week-old infant presents with tachypnoea and failure to thrive. On examination the infant has a respiratory rate of 60/minute with subcostal recession. The pulses are full and the liver is palpable 4 cm below the right costal margin. The praecordium is active. On auscultation there is an audible ejection click and a non-specific systolic ejection murmur is noted at both upper sternal edges. The infant’s oxygen saturation in room air is 93%.”

Cardiomegaly, hypoxic, pulmonary plethora, slow weight gain- possibly indicating failure
• TGA likely present earlier
• TOF-present with gradual cyanosis (presenting with cyanosis early is rare). Murmur usually ejection and pan systolic.
o TOF don’t get heart failure because no cardiac chamber is under volume strain
o CXR can be normal with decreased pulmonary vascularity
• AVSD- can present with heart failure, hyperactive precordium, increased pulmonary componenet of S2, SEM at LUSE.
o CXR shows cardiomegaly. ECG- left ward and superior axis. Can develop pulmonary artery hypertension
• Trucus- most present within first weeks of life with cyanosis, respiratory distress and heart failure +/- murmur. Murmur is LUSE, bounding peripheral pulses.
o Almost hall have a VSD
o Develop HF in several days to weeks after birth
o ECG: BVH. LAH occasionally
o CXR: cardiomegaly with increased pulmonary vascularity

Question 98

55. Most likely outcome at age 18 months if a child had PVL as a prem
    a. Visual loss
    b. Unable to eat independently
    c. Unable to walk independently
    d. Hearing loss

Answer 98

C) unable to walk independently

Periventricular leukomalacia occurs most commonly in premature infants born at less than 32 weeks’ gestation. Many infants with periventricular leukomalacia later develop signs of CP. Spastic diplegia is the most common form of CP following mild periventricular leukomalacia. Severe periventricular leukomalacia is frequently associated with quadriplegia. Varying degrees of intellectual impairment, developmental impairment, or both have been reported in association with periventricular leukomalacia. Fixation difficulties, nystagmus, strabismus, and blindness have been associated with periventricular leukomalacia. Some cases of visual dysfunction in association with periventricular leukomalacia occur in the absence of retinopathy of prematurity, suggesting damage to optic radiations as causation.

Question 99

57. A 14yo girl has a history of abuse and neglect from her biological family. She is admitted for management of unstable type 1 diabetes. She reports persistent feelings of suicidality and wanting to self harm. She has no changes in sleep or appetite. She is labile in her mood with episodic unprovoked attacks of rage. While in hospital, nursing staff are divided about her, some feeling very maternal towards her and others wanting her out of hospital as soon as possible. The most likely diagnosis is
    a. Depression
    b. borderline personality disorder
    c. bipolar affective disorder
    d. antisocial personality disorder

Answer 99

b. borderline personality disorder

Question 100

58. Boy has had a febrile illness for 9 days with pharyngitis, cervical lymphadenopathy and conjunctivitis. He was seen by his GP but no treatment instituted. He has now been afebrile for 5 days and presents with desquamative rash as shown.

What is the most appropriate management

a. Aspirin
b. IVIG
c. Prednisolone
d. Penicillin

Answer 100

B) IVIG

Question 101

60. A 10yo child is attended by paramedics and found unconscious with no pulse. CPR is commenced. Monitoring shows a narrow complex rhythm with ventricular rate between 60 and 120. What is the most appropriate management management?
    a. Adrenaline 0.3ml of 1 in 10000
    b. Adrenaline 3ml of 1 in 10000
    c. DC cardioversion x 1
    d. 3 stacked shocks
    e. Amiodarone

Answer 101

?B) 3 ml adrenalin 1:10000 if 30 kg

dose is 0.1ml/kg of 1:10000

Question 102

61. A child with Noonan Syndrome is at risk of developing which of the following
    a. Aortic stenosis
    b. Cardiomyopathy
    c. Pulmonary stenosis
    d. Heart failure

Answer 102

C, PS

Question 103

62. A sexually active teenage girl presents with partial seizures. What is the most appropriate initial anticonvulsant
    a. Lamotrigine
    b. Carbamazepine
    c. Valproate
    d. Phenytoin

Answer 103

A) lamotrigine

Question 104

63. 4mo infant presents with progressive weight loss. She maintains a good appetite and vomits only occasionally post feeds. Her appearance shown below (similar picture – very alert but wasted looking infant).

The most likely cause

a. Optic glioma
b. Hypothalamic glioma
c. Pineal cyst
d. Craniopharyngioma
e. Medulloblastoma

Answer 104

? supposed to indicate growth hormone insufficiency
optic gliomas don’t cause feeding problems.. unless right in optic chiasm- compression against pituitary.
Pineal cysts are usually benign
Very unlikely to have medulloblastoma at this age
Craniopharyngioma- can present with:
• Visual abnormalities
• Growth failure- either from low TSH or GH- is the most common presentation in children
• Headaches
• Nausea/vomiting
Peak age 5-14yo…so this case very atypical

Hypothalamic glioma: three E’s
•	Emaciated
•	Emesis
•	Euphoria
?Answer B

Question 105

64. 4 month old boy with hepatomegaly, umbilical hernia foot/leg oedema, swollen scrotum and ascites. Bloods showed low albumin and urine showed protein+++. The most likely diagnosis is
    a. Glycosylation defect
    b. Congenital nephrotic syndrome
    c. Alpha 1 AT
    d. Congestive heart failure
    e. Neonatal haemochromatosis

Answer 105

?a

Bilateral oedema, hepatomegaly, low albumin, losing in urine
The term congenital nephrotic syndrome refers to disease that is present at birth or within the first three months of life. Later onset, between three months and one year of age, is called infantile nephrotic syndrome. Most of these children have a genetic basis for the renal disease and a poor outcome. The precise diagnosis of the glomerular lesion is based on clinical, laboratory, and histological criteria

A1AT- gives hepatosplenomegaly, bleeding, deranged LFTs

Heart failure- possible- ?doesn’t explain large protein loss in urine

Neonatal haemochromatosis- present earlier and get deranged LFTs high ferritin

Glycosylation defect: can present in a variety of ways. Including above

• Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins
• ALG8-CDG (CDG-Ih)
• A four-month-old female had moderate hepatomegaly, severe diarrhea, and hypoalbuminemia from protein-losing enteropathy, normal facial features, and normal development [Chantret et al 2003]. She had decreased levels of factor XI, protein C, and antithrombin III.

Question 106

66. The child pictured has developmental delay, is non-verbal, likes to play with water, laughs a lot.

The most likely diagnosis is

a. Fragile X
b. Williams syndrome
c. Angleman Syndrome
d. Prader Willi

Answer 106

c. Angleman Syndrome

Question 107

68.	A 27 week infant is ventilated for respiratory distress syndrome.  She is now 5 days old and stable. Ventilator settings are:
SIMV
PIP 20
PEEP 4
Ti 0.4s
25% FiO2
Rate 30

VBG:
pH 7.28
pCO2 35
pO2 80
HCO3 18
BE -4
How should you adjust the ventilator settings?
a.	increase rate
b.	increase FiO2
c.	increase PEEP
d.	decrease inspiratory time
e.	decrease PIP

Answer 107

C) increase PEEP

metabolic acidosis, low CO2

increase CO2-
either decrease PIP, increase PEEP or decrease rate.

Question 108

69. A new study selects 5000 consecutive patients admitted to hospital over a 6 month period. 4700 meet the selection criteria. Of these 2700 consent to participate. These are divided equally into control and experimental groups using a random number generator. During follow up 80 participants from the control and 70 from the experimental group are lost to follow up. The outcome shows no statistically significant difference between the two groups. Which has the most impact on the validity of this study?
    a. Sampling error
    b. Small number of participants
    c. Participation rate
    d. Seasonal effect
    e. Loss to follow up

Answer 108

e. Loss to follow up

Loss to follow up has an important impact on external validity.

Question 109

70. A 4yo Sri-lankan child presents having recently immigrated. He had been treated by an ophthalmologist for congenital cataracts. He now presents with rachitic rosary and neurological symptoms Urine shows amino acids +, glucose +. EUCs show HIGH potassium (5.8), low phosphate, . Urine pH is 5.2 Dx
    a. Cystinosis
    b. Lowe syndrome (oculocerebrorenal sy)
    c. Bartter sydrome
    d. dRTA

Answer 109

b. Lowe syndrome

• cataracts
• rickets
• amino aciduria, glycosuria- consistent with RTA
• low urine pH
o differentiating between RTA type 1 and 2. RTA type 1 urine pH cannot be <5.5
o other differentiating feature is distal RTA often get stones (secondary to hypercalciuria)
• Low syndrome and cystinosis are causes of RTA type 2 (Fanconi syndrome- proximal RTA)
• Bartter would not explain amino aciduria or ?cataracts.
o Biochemical findings in Barters: metabolic alkalosis, low serum K, CL, Mg, elevated Ca.
o Urine excessive K and Cl loss
Cystinosis: From uptodate
• Renal symptoms — The first clinical signs of infantile cystinosis appear between three and six months of age; they are largely due to impaired proximal tubular reabsorptive capacity, leading to the varied manifestations of the de Toni-Debré-Fanconi syndrome (glycosuria, metabolic acidosis, phosphaturia, and aminoaciduria). Sodium wasting and resistance to antidiuretic hormone (nephrogenic diabetes insipidus) can result in polyuria (reaching 2 to 3 L/day), polydipsia, poor weight gain, vomiting, constipation, weakness, unexplained fever, and acute dehydration episodes [33]. Growth retardation and rickets (manifested by swelling of the wrists, frontal bossing, and genu valgum) are often noted at presentation due in part to phosphate wasting and hypophosphatemia.

• Eyes − The eyes are involved early in the course of the disease, as cystine deposits in the cornea and the conjunctiva can be seen on slit-lamp examination. These deposits are responsible for photophobia, watering, and blepharospasm. Irregular and peripheral depigmentation of the retina is also an early finding. Visual impairment may occur later, in children older than 10 years [35,36]. Hemorrhagic retinopathy may also be a complication of this disorder
• Hypothyroidism
• Hepatomegaly
• Muscle weakness
• Insulin dependent diabetes

Lowe syndrome — The Lowe oculocerebrorenal syndrome is phenotypically similar to Dent’s disease; low-molecular-weight proteinuria and hypercalciuria are present in both disorders. However, patients with Lowe oculocerebrorenal syndrome also have renal tubular acidosis, congenital cataracts, and mental retardation, findings which are absent in Dent’s disease [3,29,30,50]. In addition, patients with the Lowe oculocerebrorenal syndrome commonly have growth failure, which corrects with alkali therapy, and progressive renal impairment that is typically more aggressive and occurs at an earlier age than the renal impairment in Dent’s disease

Question 110

71. Baby is born after unremarkable antenatal course other than mildly enlarged kidneys. Repeat ultrasound shows bilateral nephromegaly and echogenic kidneys (Ultrasound images shown). The most likely diagnosis is
    a. ARPKD
    b. Beckwith Wiedemann
    c. ADPKD
    d. Medullary cystic kidney disease
    e. Multicystic dysplastic kidneys

Answer 110

C) ADPKD

ARPKD usually present at birth with other features…olighydramnios
• Both kidneys are markedly enlarged and grossly show innumberable cysts throughout the cortex and medulla
• Microscopically: dilated ectatic collecting ducts
• Development of progressive interstitial fibrosis and tubular atrophy during advanced stages of disease eventually leads to renal failure
• Liver involvement characterized by basic ductal plate abnormality that leads to bile duct proliferation and ectasia and hepatic fibrosis

Clinical features
• Wide phenotypic variation
• Presents with bilateral flank masses during the neonatal period
• Associated with oligohydramnios, pulmonary hypoplasia, respiratory distress and spont pneumothorax in the neonatal period
o Due to oligohydramnios get micrognathia, flattened nose, limb positioning defects, growth deficiecncy
o In newborn liver disease detected either radiologically or clinical laboratory in 45%
• Hypertension is usually noted within first few weeks of life, is severe and difficult to control
• Transient hyponatraemia
• Oliguria and renal failure are uncommon
• Uncommonly presents beyond the infant years with renal and hepatic findings- portal hypertension, varices, prominent cutaneous periumbilical veins

Diagnosis
• Stongly suggestive with bilateral flank masses in an infant with pulmonary hypoplasia, oligohydramnios, hypertension and absence of renal cysts
• US- enlarged poor corticomedullary differentiation

ADPKD- usually present in adulthood, later childhood.
• Is the most common inherited kidney disease
Pathology
• Both kidneys are enlarged and show cortical and medullary cysts originiating from all regions of the nephron
• 85% have mutations of PKD1 gene on the short arm of chromosome 16- encodes for polycycstin (transmembrane glycoprotein)
• formation of cysts: due to abnormal growth factor expression, low intracellular calcium and elevated cAMP

Clinical presentation
• symptomatic disease occurs in 4th or 5th decade, but can be seen in children
o hypertension
o urinary tract infection
o gross or microscopic haematuria
o bilateral flank pain
o abdominal mases
• Renal US: multiple bilateral macrocysts in enlarged kidneys
• It is a systemic disorder, cysts may also be present in:
o Liver, pancrease, spleen and ovaries
o Intracranial aneurysms appear to cluster within some families- overall prevalence 5%
o Mitral valve prolapse in 12%
o Hernias, intestinal diverticular
o Association with renal cell carcinoma

Diagnosis
• Enlarged kidneys with bilateral macrocysts in a patient with a first degree relative affected.
• De novo diagnosis may be made in 5-10% of cases
• Prenatal diagnosis made if have enlarged kidneys are there is family history
o DNA testing is available for those with PKD1 or PKD2 gene mutations

Treatment
• Supportive
• Control of blood pressure- associated with hypertension
o NB calcium channel blockers increases disease progression
• Normal renal function in childhood is seen in >80%
• By age of 60 50% will have ESRF
•
Multicystic dysplastic kidney- one dysplastic kidney- other if normal becomes hypertrophied
• Ie is uni lateral
• Often detected antenatally

Given that it’s bilateral and child is otherwise asymptomatic- most likely ADPKD

Question 111

72. Prem with fairly normal bloods apart from mild hypercalcaemia (2.7, upper limit of normal 2.64), and normal Ca:Cr ratio, and diffuse calcification of kidneys on imaging.
    a. Idiopathic nephrocalcinosis
    b. Williams syndrome
    c. Distal RTA
    d. Barters syndrome
    e. Vitamin D intoxication

Answer 111

A, Idiopathic neprhocalcinosis
CLINICAL PRESENTATION — Nephrocalcinosis is, in most cases, an asymptomatic, chronic, and slowly progressive disease that is discovered as an incidental finding during radiographic imaging of the abdomen or chest. Such imaging may be obtained as part of the evaluation of nephrolithiasis, which often coexists with nephrocalcinosis.
However, occasional patients present with clinical symptoms that are related to nephrocalcinosis or to the causative process (eg, hypercalcemia). These include renal colic and polyuria and polydipsia:

Imaging — Macroscopic nephrocalcinosis may be detected by multiple imaging techniques, including abdominal plain film, ultrasound (US), and CT imaging [26,42-45]. Calcification is poorly visualized by magnetic resonance imaging

• No other features in stem to suggest William syndrome- but nephrocalcinosis can occur
o Hypercalciuria is often found during episodes of hypercalcemia and infrequently results in nephrocalcinosis, which is detected in about 5 to 10 percent of patients undergoing renal ultrasonography [11,18,25-27]. Hypercalciuria is not common after the first year of life
• No other bloods/urine given to be able to diagnose RTA or Barters- but nephrocalcinosis can occur
• Vit D intoxication very unlikely- but nephrocalcinosis can occur. Depends what other bloods are

Question 112

73. You are working in a NICU with recent outbreak of aminoglycoside-susceptible ESBL. A neonate becomes unwell with sepsis and seizures but is too sick for LP. What is your empiric Rx?
    a. Vanc + gent
    b. Vanc + meropenem
    c. Vanc + cefotaxime
    d. Cefotaxime and Gentamicin

Answer 112

C) vanc plus mero

ESBL-therfore cefotax no good. Best thing for ESBL is carbapenems… although this does say its aminoglycoside susceptible.

Mero will cover everything…. And is better GP cover than vanc… for listeria.
Want to cover:
o	Listeria (GP)
o	E.coli
o	GBS (GP)

Question 113

74. Child presents with lower limb pain and fevers. Investigation including MRI (shown but described by question – not sure if any specific signs present to suggest answer) confirms osteomyelitis of the tibia. Blood culture grows gram negative coccobacillus.

The most likely causative organism is

a. Haemophilus influenza
b. Kingella Kingae
c. ‘Neisseria meningitides
d. Staph aureus
e. Strep pneumonia

Answer 113

B) kingella kingae

o Kingella kingae is being recognized increasingly as a common etiology of pediatric osteoarticular infections, bacteremia, and endocarditis, which reflects improved culture methods and use of nucleic acid–amplification techniques in clinical microbiology laboratories
o K kingae is a facultative anaerobic, ß-hemolytic, Gram-negative organism that appears as pairs or short chains of plump bacilli with tapered ends (Fig 1) and that tends to resist decolorization, which sometimes results in its misidentification as Gram-positive
o Affected children presented with osteomyelitis, septic arthritis, endocarditis, or spondylodiscitis

Question 114

75. 4yo boy with intermittent limp for 8 weeks. He is afebrile. Bloods show normal WCC, ESR and CRP. Bilateral hip xray is shown with evidence of AVN of femoral head L>R. The most likely diagnosis is
    a. SUFE
    b. Perthes Disease
    c. Osteomyelitis
    d. Septic arthritis

Answer 114

B) perthes

Question 115

76. Boy with mass behind knee, compressible, non tender, non pulsatile
    a. Synovial cyst
    b. Lipoma
    c. AVM
    d. Ostochondroma
    e. Bursitis

Answer 115

a) aynovial cyst

Question 116

77. 8 year old girl with high HbA1c (value not given) and hyperglycaemia, does not have acanthosis, is not obese. GAD and anti-insulin antibodies are negative. Mother had diabetes diagnosed in pregnancy; is not obese, managed with OHG. Maternal uncle has diabetes, not obese, managed with OHG. The most likely diagnosis is
    a. Type 1 diabetes
    b. Type 2 diabetes
    c. MODY
    d. Impaired glucose tolerance
    e. Mitrochondrial defect

Answer 116

C) MODY

Question 117

78. A short obese boy with short 4th metacarpals and developmental delay has a mother with similar history and intellectual diability. What bloods would you typically expect
    a. High PTH, low Ca, high PO4, low 1,25 vit D
    b. Low Ca, High PO4, high vit D, Normal-high PTH
    c. High PTH, low Ca, high PO4, high 1,24 vit D
    d. Normal PTH, high Ca, low PO4, low 1,25 vit D
    e. Low PTH, low Ca, high PO4, low 1,25 vit D

Answer 117

A) High PTH, low Ca, high PO4, low 1,25 vit D

pseudohypoparathyroidism

Question 118

79. A child is in ICU with DKA develops deteriorating level of consciousness with hypertension, slowing HR, irregular resps, pupils sluggish. The most important initial management is
    a. Insulin bolus
    b. Mannitol
    c. N/S bolus
    d. Nifedipine
    e. Sodium nitroprusside

Answer 118

B) mannitol

cerebral oedema

Question 119

80. Child raised as a female but with history of ambiguous genitalia at birth. Develops virilisation around puberty. Karyotype performed showing XY. B-HCG testosterone stimulation test shows normal testosterone levels but low DHT. The underlying defect is
    a. 5-alpha reductase def
    b. 3-alpha reductase def
    c. 21-hydroxylase def
    d. 11-betahydroxylase deficiency
    e. Aromatase deficiency

Answer 119

Answer A

Undable to convert testosterone to DHT

Question 120

81. Boy with Marfanoid habitus, secretory diarrhoea, confirmed thyroid medullary carcinoma. RET mutation. Which syndrome is most likely?
    a. MEN 2A
    b. Li Fraumeni
    c. APC

Answer 120

A)

MEN2b- medullary thyroid carcinoma
Patients with MEN2B also have development abnormalities, a decreased upper/lower body ratio, skeletal deformations (kyphoscoliosis or lordosis), joint laxity, Marfanoid habitus, and myelinated corneal nerves. Disturbances of colonic function are common, including chronic constipation and megacolon [17]. Unlike patients with Marfan’s syndrome, MEN2B patients do not have ectopia lentis or aortic abnormalities

Question 121

82. Girl previously treated for lymphoma develops ankle pain. Xray is shown below.

The likely causative agent is

a. Vincristine
b. Dexamethasone
c. Cytarabine
d. Methotrexate

Answer 121

B) dex

Question 122

83. Which of the following treatments for hyperthyroidism has the side effect of liver failure
    a. PTU
    b. Carbimazole
    c. Iodine
    d. Beta blockers

Answer 122

a) PTU

Question 123

84. In a child with primary polydipsia, morning urine would be most likely to show what combination of serum sodium and urine osmolality
    a. Normal serum sodium, normal-high urine osmolality
    b. High serum sodium, high urine osmolality
    c. Normal serum sodium, high urine osmolality
    d. Low serum sodium, normal urine osmolality
    e. High serum sodium, normal urine osmolality

Answer 123

?D

Primary polydipsia — Primary polydipsia (sometimes called psychogenic polydipsia) is characterized by a primary increase in water intake. This disorder is most often seen middle-aged women and in patients with psychiatric illnesses, including those taking a phenothiazine which can lead to the sensation of a dry mouth. Primary polydipsia can also be induced by hypothalamic lesions that directly affect the thirst center, as may occur with an infiltrative disease such as sarcoidosis.
• He may be drinking overnight also.

Plasma sodium and urine osmolality — Each of the three causes of polyuria — primary polydipsia, central DI, and nephrogenic DI — is associated with an increase in water output and the excretion of a relatively dilute urine. With primary polydipsia, the polyuria is an appropriate response to enhanced water intake; in comparison, the water loss is inappropriate with either form of DI. Measurement of the plasma sodium concentration and the urine osmolality may be helpful in distinguishing between these disorders:
• A low plasma sodium concentration (less than 137 meq/L) with a low urine osmolality (eg, less than one-half the plasma osmolality) is usually indicative of water overload due to primary polydipsia.\
• A high-normal plasma sodium concentration (greater than 142 meq/L, due to water loss) points toward DI, particularly if the urine osmolality is less than the plasma osmolality [1].
• A normal plasma sodium concentration is not helpful in diagnosis but, if associated with a urine osmolality more than 600 mosmol/kg, excludes a diagnosis of DI.

Urinary sodium and osmolality are best measured by 24-hour urine collection. Typically, hyponatraemia is hypotonic and euvolaemic. Urinary osmolality is under 100 mOsm/kg H2O, and serum osmolality is also low (<280 mOsm/kg H2O).

Question 124

85. A 6yo child wakes from sleep with involuntary mouth movements and unable to speak. He subsequently has a GTCS

a. Dravet Syndrome
b. Lennox-Gastaut
c. Benign Rolandic Epilepsy
d. Juvenile Myoclonic epilepsy
e. Childhood absence epilepsy
f. Childhood myoclonic epilepsy

Answer 124

c. Benign Rolandic Epilepsy

Question 125

86. A 2yo child initially presents with with febrile status <1y. She continues to have further febrile and afebrile seizures including myoclonic jerks. Her development is moderate-severely delayed

a. Dravet Syndrome
b. Lennox-Gastaut
c. Benign Rolandic Epilepsy
d. Juvenile Myoclonic epilepsy
e. Childhood absence epilepsy
f. Childhood myoclonic epilepsy

Answer 125

A) dravet

seizures with fever

Question 126

87. A child with no fevers, but 1.5kg weight loss (6yo), fatigue or malaise. CXR shown with ?hilar lymphadenopathy or peri-hilar markings + ?mild obscuring of LLL

a. TB
b. HIV
c. Bartonella henselae
d. CMV
e. Toxoplasmosis

Answer 126

A? TB

Question 127

88. 2yo girl with tender unilateral lymphadenopathy. She recently was given 2 kittens.

a. TB
b. HIV
c. Bartonella henselae
d. CMV
e. Toxoplasmosis

Answer 127

C)

Question 128

89. Jaundice, petechiae, hepatosplenomegaly, IUGR, microcephaly

a. CMV
b. Toxoplasmosis
c. Syphillis
d. Varicella
e. Rubella
f. HIV
g. Parvovirus

Answer 128

a) CMV

Question 129

90. Jaundice, petechiae, hepatosplenomegaly, hydrocephalus, intracranial calcifications, chorioretinitis

a. CMV
b. Toxoplasmosis
c. Syphillis
d. Varicella
e. Rubella
f. HIV
g. Parvovirus

Answer 129

B, toxo

• Hydrocephalus, chorioretinitis and intracranial calcifications= toxo

Question 130

16. Teenage girl diagnosed 4mo ago with multiple sclerosis presents for review. She reports feelings of hopelessness, difficulty sleeping, decreased appetite and poor concentration. She has recently started cutting herself. The most likely diagnosis is
    a. Adjustment disorder with depressive mood
    b. Major depression
    c. Borderline personality disorder
    d. Grief reaction

Answer 130

Meets DSM criteria for depression. Chronic disease with physical disability are at high risk of adjustment disorder. At 3x risk of mental illness (as per NZ lecture)

Answer B, could also be A.

Question 131

14. First line treatment for adolescent with generalised anxiety disorder
    a. Benzodiazepine
    b. Psychotherapy
    c. Cognitive behavioural therapy
    d. SSRI
    e. TCA

Answer 131

c

Question 132

13. A child with ALL undergoes BMT. He has been treated with busulphan, cyclophosphamide and ?anti-thymocyte antibodies. 8 days post transplant he develops tender hepatomegaly and weight gain. He has an urticarial rash over trunk and upper nad lower limbs. Bloods show bili 40 and mild transaminitis.
    a. CMV
    b. VOD
    c. GVHD
    d. Budd-Chiari syndrome.
    e. Congestive heart failure.

Answer 132

B, VOD

• Abdo pain, bili, weight gain= VOD

Question 133

10 yo girl ALL on induction, presents with left arm weakness, CT venogram shows partial obstruction of sagital sinus (images of same shown but findings described in question). What is the most likely causative agent?

a. Cytarabine
b. Cyclophosphamide
c. L-Asparaginase
d. Vincristine
e. Dexamethasone

Answer 133

C

Question 134

11. 13yo girl presents with cervical adenopathy/mass and complains of fullness in the ear and shortness of breath. Her mother noticed her face looked swollen in the morning when she woke but has now improved. The most likely cause is
    a. Pulmonary embolism
    b. SVC obstruction
    c. Pleural effusion
    d. Tuberculosis

Answer 134

B) SVC obstruction

secondary to T cell lymphoma

Question 135

10. Newborn with Trisomy 21 presents with cyanosis and a murmur. The xray below is taken: not plethoric, boot shaped heart

The most likely diagnosis is

a. AVSD
b. TGA
c. Truncus
d. Tetralogy

Answer 135

C) tof

Cyanosis, murmur and boot shaped heart= TOF.
• ECG would show RAD and RVH
• For TOF’s to present with cyanosis in first few days of life is rare

• Truncus:

o Can cause murmur/no murmur
• TGA
o Can cause murmur and cyanosis. Would expect more pulmonary plethora.
•
• AVSD most common lesion to occur in T21 though.
o Present with heart failure rather than cyanosis
o CXR show cardiomegaly
o ECG-leftward and superior axis

Question 136

8. Newborn presents with lethargy, poor feeding and on investigation, is found to have hyperammonaemia, hypoglycaemia, ketosis, lactic acidosis. This is most consistent with
   a. Mitochondrial disorder
   b. Organic acidaemia
   c. Fatty acid oxidation disorder
   d. Urea cycle disorder

Answer 136

?how high urea

If ammonia was very high then answer would be D. If only moderately high (<200) then could be B.

Organic acidosis present with: severe acidosis (increased anion gap), lethargy, poor feeding, vomiting, severe ketoacidosis, increased plasma ketones)

Question 137

A child presents with a UTI and is commenced on gentamicin. The most important pharmacological parameter in gentamicin dosing is

a. time above MIC
b. AUC/MIC
c. Cmax/MIC
d. AUC
e. Cmax

Answer 137

?B

Question 138

6.	(Q10) 2 day old presents with hepatomegaly and jaundice. Ultrasound shows an enlarged liver with nodular border. The parents first child died within the first few weeks of life of presumed ‘neonatal sepsis’.
Blood investigations show
Bili 180
ALT/GGT mildly elevated
INR 2.6
The most likely diagnosis is
a.	galactosaemia
b.	alpha-1 antitrypsin
c.	tyrosinaemia
d.	neonatal haemochromatosis

Answer 138

?C tyrosinaemia

Not D- likely to have high LFT and very high ferritin

A1AT
?mode of inheritence
Clinical presentation
•	Neonatal hepatitis- between day 4 and 4 months of life
•	Hepatomegaly
•	Elevated ALT
•	Ascites
•	Bleeding

Galactosemia
•	AR
Infants with classic galactosemia usually present in the first few days after birth and initiation of breast milk or cow's milk-based formula feedings. Specific signs and symptoms occur with different frequencies. The most common findings are
•	jaundice
•	vomiting
•	hepatosplenomegaly
•	lethargy
•	failure to thrive
•	poor feeding
•	diarrhea
•	sepsis
Ix:
•	Liver dysfunction – Conjugated or unconjugated hyperbilirubinemia, abnormal liver function tests, coagulopathy, increased levels of plasma amino acids (especially phenylalanine, tyrosine, and methionine).
•	Renal tubular dysfunction – Metabolic acidosis, galactosuria (which may be indicated by the presence of reducing substances in the urine), glycosuria, aminoaciduria, albuminuria.
•	Hemolytic anemia.

Tyrosinaemia
HT1 clinical features — HT1 is characterized by severe progressive liver disease and renal tubular dysfunction. The latter typically is manifest as the Fanconi syndrome with renal tubular acidosis, aminoaciduria, and hypophosphatemia (due to phosphate wasting) [18]. Features of rickets often are present.
Most patients present in early infancy with failure to thrive and hepatomegaly. Some develop conjugated hyperbilirubinemia. An often marked elevation in serum alpha fetoprotein (AFP) is common in HT1. Studies in newborns have shown that cord blood AFP is elevated at a time when tyrosine levels are still normal [19]. This observation suggests that the liver disease begins prenatally, as does the common finding of nodularity or cirrhosis in affected neonates. (See “Causes of neonatal cholestasis”.)
Progression of the liver disease can be chronic or acute, with rapid deterioration and early death [1]. Liver dysfunction commonly results in hypoglycemia and coagulation abnormalities. Serum aminotransferase levels typically are only mildly elevated and often disproportionately low compared with the marked degree of coagulopathy. Complications of liver failure, including jaundice, ascites, and hemorrhage often develop.
The chronic form consists of a mixed micronodular and macronodular cirrhosis. The risk of developing hepatocellular carcinoma is high in survivors, occurring in as many as 37 percent of untreated patients older than two years of age [20,21]. Cancer formation is thought to be caused by the mutagenicity of FAA.

?Answer C- tyrisonaemia

Question 139

2. 10yo presents for cognitive assessment with parental concerns that he may be developmentally delayed. The most appropriate screening tool to use is
   a. Griffiths
   b. WPPSI
   c. Weschler Intelligence scale for children (WISC-IV)
   d. Few other options

Answer 139

C

Screening- WISC
• Gold standards:
o WPPSI- 2.5-7
o WISC- age 5-18

• People are trained how to do the bayley and Griffiths scales- usually psychologist
o These are assessments not “screening” tools

Question 140

3. 9yo with ulcerative colitis is currently on mesalazine. He has required 3 courses of steroids in the last year to which he has responded well. Which of the following is the most appropriate steroid sparing treatment to commence?
   a. Azathioprine
   b. Mycophenelate
   c. Infliximab
   d. Tacrolimus
   e. Cyclosporine

Answer 140

A) azathioprine
but can be any
Uptodate actually says all of these can be used and there does not appear to be data saying one is better than the other…

As per eTG:
Early recognition of the nonresponding patient
In patients with severe ulcerative colitis, deterioration (especially development of toxic megacolon), or failure to respond after 3 to 5 days of intravenous corticosteroid treatment, requires consideration of prompt medical salvage therapies or colectomy. Superinfection with cytomegalovirus should also be considered in refractory patients, and can be excluded by sigmoidoscopy and biopsy. Patients should be managed in a specialist centre. Medical salvage therapies include intravenous cyclosporin or infliximab. Use:
1 cyclosporin 2 to 4 mg/kg IV, daily as a continuous infusion
OR
1 infliximab 5 mg/kg IV infusion over 2 hours, as a single dose.
Substitute oral corticosteroids when disease activity has subsided.
Avoid loperamide, other antidiarrhoeal and anticholinergic drugs and opioid analgesics in severe ulcerative colitis.
Avoid loperamide, other antidiarrhoeal and anticholinergic drugs and opioid analgesics in severe disease, as they may precipitate toxic megacolon.
Chronically active or frequently relapsing ulcerative colitis
Some patients with extensive ulcerative colitis do not respond to corticosteroids, or require prolonged corticosteroid therapy to control disease activity. Treatment options in these patients include the thiopurine immunomodulatory drugs (azathioprine or mercaptopurine), methotrexate, infliximab, and surgery. Use:
1 azathioprine (adult and child) 2 to 2.5 mg/kg orally, daily
OR
1 mercaptopurine (adult and child) 1 to 1.5 mg/kg orally, daily.
If a patient has adverse effects to azathioprine or mercaptopurine, consider using methotrexate despite limited evidence for efficacy. A suitable regimen is:
methotrexate 25 mg SC, IM or orally, on one specified day per week (see Methotrexate for information on adverse effects and monitoring)

PLUS
folic acid 5 to 10 mg orally, once weekly (preferably not on the day that the methotrexate is taken).

These drugs are associated with significant adverse effects so monitor carefully for complications, especially during the first 3 months of therapy (see Azathioprine and mercaptopurine and Methotrexate).
If the patient is unresponsive or intolerant after 3 months of treatment, use:
1 infliximab (adult and child) 5 mg/kg IV infusion over 2 hours. If there is a clinical response, infliximab may be continued as maintenance therapy (see Maintenance therapy for ulcerative colitis)

OR

2 methotrexate 25 mg SC, IM or orally, on one specified day per week (see Methotrexate for information on adverse effects and monitoring)

PLUS
folic acid 5 to 10 mg orally, once weekly (preferably not on the day that the methotrexate is taken).

Surgery (proctocolectomy with either ileal pouch–anal anastomosis or end-ileostomy) may be considered for treating chronic refractory disease.

Question 141

4. 36h post paracetamol overdose, which marker is best indicator of need for specialist intervention
   a. Bilirubin
   b. AST
   c. INR
   d. ALT
   e. APTT

Answer 141

C) INR

Question 142

10mo baby presents with an abdominal mass and feed intolerance. She is hypertensive. CT is shown with R sided abdominal mass, crossing the midline (Similar to below but right kidney visible below mass).

The most likely diagnosis is

a. hepatoblastoma
b. neuroblastoma
c. Wilm’s tumour
d. Teratoma

Answer 142

B) neuroblastoma

If it’s crossing midline and some calcifications probably NBL

Question 143

1.	8mo child presents with history consistent with bronchiolitis, RSV positive, and becomes progressively more unwell with symptoms of heart failure. Parents report that she has sometimes become breathless with feeding but is generally growing well. ECG is shown below.
  The most likely diagnosis is
a.	Anomolous left coronary artery
b.	Viral myocarditis
c.	VSD
d.	Dilated cardiomyopathy

Answer 143

A)

Axis- leftward…normal for age. +10 +110 for 3mth-1yr olds.
LVH
Upright T waves in lead V1, big S wavee in V6… BVH
-St elevation I nV4-6
-Big Q wave in I, V5, V6
-not viral myocarditis- can get decreased QRS voltate
-age 8mth…. Most likely VSD
-anamolous LCA- features of anterolateral MI
-dilated cardiomyopathy- atrial or ventricular hypertrophy, t wave changes +/- arrhythmias