2015 remembered Flashcards
(86 cards)
1
Q
Which of the following syndromes is associated with moya moya, picture of moya moya shown (puff of smoke)?
A. TS B. Angelman C. Williams D. NF1 E. Noonans
A
D. NF1
Moyamoya syndrome is a cerebral vasculopathy that is only rarely observed in association with NF1.
The disease is characterized by unilateral or bilateral stenosis or occlusion of the internal carotid arteries, at the entry point into the circle of Willis, consequently leading to a prominent collateral arterial circulation which often resembles a puff of smoke. Also associated with down syndrome, and polycystic kidney disease.
2
Q
Ivacaftor is used in CF individuals with the mutation G551D, in which class of mutations is this medication effective?
A. Class I B. Class II C. Class III D. Class IV E. Class V
A
C. Class III = no functional protein
[delta F508 = class II - misfolded]
Ivacaftor (trade name Kalydeco) is a “potentiator” of CFTR and increases the probability that the defective channel will be open and allow chloride ions pass through the channel pore.
3
Q
Which of the following factors has the shortest half life in the circulation?
A. Factor II B. Factor V C. Factor VII D. Factor X E. Factor XIII
A
C. Factor VII
Factor VII circulates as a single-chain zymogen of molecular weight of about 50,000 Daltons. It has the shortest half-life of the procoagulant factors, approximately 3-6 hours.
o Factor XII: Half life 60 hrs o Factor XI: Half life 52 hrs o Factor IX: Half life 18-24 hrs o Factor VIII: Half life 8-12 hrs o Factor VII: Half life 3-6 hours o Factor X: Half life 30-40 hrs o Factor II (Prothrombin): Half life 60-70 hrs o Factor I (Fibrinogen): Half life 72-120 hrs o Protein C: Half-life 6 hrs
4
Q
The mechanism of action of Diazoxide in hyperinsulinemic hypoglycemia is as follows.
A. K channel antagonist
B. K channel agonist
A
B. K channel agonist
Diazoxide inhibits insulin release from the pancreas, probably by opening potassium channels in the beta cell membrane.
Also used in hyptertension as a vasodilator.
5
Q
Blood gas shown: pH 7.35, pCO2 32, bicarb 16.
A. Metabolic acidosis B. Compensated metabolic acidosis C. Mixed metabolic and respiratory acidosis D. Respiratory acidosis E. Compensated respiratory acidosis
A
B. Compensated metabolic acidosis
Normal bicarbonate: 22 to 28 mEq/L
6
Q
An immunocompromised boy was sitting in class next to a girl who developed chicken pox. He is unvaccinated but had chicken pox when he was 3. What is the most appropriate course of action?
A. No treatment B. School exclusion for the boy C. IV aciclovir D. PO aciclovir E. Varicella Ig
A
?A. No treatment or B
If shows serological immunity (previous chicken pox), not for IVIG.
No evidence for aciclovir. “Limited data regarding acyclovir as post-exposure prophylaxis are available for healthy children, but no studies have been conducted in adults or immunocompromised people. Clinicians may choose this option if active or passive immunization is not possible.”
7
Q
Which of the following is an example of a triplet repeat disorder?
A. Noonans B. Duchennes MD C. Spinal muscular atrophy D. Friedrich’s ataxia E. Velocardiofacial
A
D. Friedrich’s ataxia
Gene FXN. Repeat GAA. Normal 7-34; pathogenic 100+
Others:
- Fragile X: FMR1 CGG. Normal 6-53; pathogenic 230+
- Myotonic dystrophy 1 - DMPK; GTG repeat. Normal 5-34, path 50+
8
Q
In Duchenne’s muscular dystrophy, how has the gene been affected?
A. Point mutation
B. Insertion
C. Deletion
A
C) deletion
Duchenne and Becker muscular dystrophy (DMD and BMD) are caused, in the majority of cases, by deletions in the dystrophin gene (DMD). The disease is an X-linked neuromuscular diseases typically caused by disrupting (DMD) or non-disrupting (BMD) the reading frame in the dystrophin (DMD) gene.
9
Q
Sunset eyes are due to compression of which structure.
A. Midbrain
B. Medial lemniscus
C. Facial nerve
A
A. Midbrain
Parinaud’s syndrome results from injury, either direct or compressive, to the dorsal midbrain. Specifically, compression or ischemic damage of the mesencephalic tectum, including the superior colliculus adjacent oculomotor (origin of cranial nerve III) and Edinger-Westphal nuclei, causing dysfunction to the motor function of the eye.
Classically, it has been associated with young patients with brain tumors in the pineal gland or midbrain: pinealoma (intracranial germinomas) are the most common lesion producing this syndrome.
10
Q
Which of the following hormones acts directly on the cell surface rather than a nuclear receptor?
A. Thyroxine
B. Prolactin
C. Vitamin D
D. Oestrogen
A
B. Prolactin
Prolactin receptor is located essentially on the plasma and intracellular membranes of target cells.
- Thyroxine receptors - DNA
- Vitamin D receptors (VDR) - located in the nucleus of target cells
- In the absence of hormone, estrogen receptors are largely located in the cytosol. Hormone binding to the receptor triggers a number of events starting with migration of the receptor from the cytosol into the nucleus,
11
Q
Which of the following reduces calcium absorption in the GIT.
A. Corticosteroids
B. Parathyroid hormone
C. Vitamin D
A
A. Corticosteroids
Pharmacologic doses of corticosteroids impair intestinal calcium absorption and contribute to negative calcium balance.
PTH and Vit D increase Ca absorption
12
Q
Omalizumab works by antagonising which of the following.
A. CD20 B. CD3 C. IgE D. T cells E. IFN alpha
A
C. IgE
13
Q
Glucose transport in the proximal tubule is regulated how?
A. Active transport
B. Co-transport
C. Passive diffusion
D. Active diffusion
A
C. Passive diffusion
14
Q
GLUT4 works in which of the following tissues.
A. Adipose tissue and pancreas B. Adipose and skeletal muscle C. Skeletal muscle and liver D. Liver and adipose tissue E. Skeletal muscle and pancreas
A
B. Adipose and skeletal muscle
15
Q
Child has diarrhoea, failure to thrive and eczematous rash. Is presume to have Omenn Syndrome. This is due to mutations in which of the following?
A. RAG1/RAG2
B. AIRE
C. Fox P3
D. STAT3
A
A. RAG1/RAG2
Omenn syndrome is an autosomal recessive form of severe combined immunodeficiency (SCID) characterized by erythroderma (skin redness), desquamation (peeling skin), alopecia (hair loss), chronic diarrhea, failure to thrive, lymphadenopathy (enlarged lymph nodes), eosinophilia, hepatosplenomegaly, and elevated serum IgE levels.
Associated with low IgG, IgA, and IgM and the virtual absence of B cells. There is an elevated number of T cells, but their function is impaired
16
Q
Large 4.3kg baby suffers a birth injury. Has difficult with intrinsic muscles of hands but is able to move shoulder and elbow normally. He has an associated horners. Damage is due to which of the following nerves?
A. C5,6
B. C6,7
C. C7, 8
D. C8, T1
A
D) C8,T1 (Klumpke paralysis)
Symptoms include intrinsic minus hand deformity,[10] paralysis of intrinsic hand muscles, and C8/T1 Dermatome distribution numbness. Involvement of T1 may result in Horner’s syndrome, with ptosis, and miosis.
17
Q
Pathophysiology of transient tachypnoea of the newborn.
Table included minute volume, tidal volume, resistance, compliance. Had to choose if each was increased/decreased.
A
Resistance = inc
Compliance = decreased (as in HMD),
then get decreased TV.
If dec TV, then to maintain MV (MV = TV x RR), must inc RR.
Pulmonary compliance refers to a given change in volume (ΔVolume) for every given change in pressure (ΔPressure), essentially the ability of the alveoli to fill with air under a set pressure.
Increased work of breathing results from mismatched pulmonary mechanics from increased airway resistance (ΔPressure/Volumetric Flow), decreased lung compliance (ΔVolume/ ΔPressure), or both.
18
Q
In the most common type of Hirschprung’s – the abnormality extends to which anatomical location.
A. Caecum B. Sigmoid C. Descending colon D. Transverse colon E. Ascending colon
A
B) sigmoid
There are two main types of Hirschsprung disease, known as short-segment disease and long-segment disease, which are defined by the region of the intestine lacking nerve cells. In short-segment disease, nerve cells are missing from only the last segment of the large intestine (colon). This type is most common, occurring in approximately 80 percent of people with Hirschsprung disease. For unknown reasons, short-segment disease is four times more common in men than in women. Long-segment disease occurs when nerve cells are missing from most of the large intestine and is the more severe type. Long-segment disease is found in approximately 20 percent of people with Hirschsprung disease and affects men and women equally.
Classified as short segment HSCR (S-HSCR, 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and long segment HSCR (L-HSCR, 20% of cases) when aganglionosis extends proximal to the sigmoid
19
Q
A teenager is being treated with an ASA for ulcerative colitis but has required several courses of steroids, what is the most appropriate steroid sparing agent?
A. Azathioprine
B. INF
C. Infliximab
D. Mycophenolate
A
A. Azathioprine
20
Q
Which of the following chemotherapeutic agents can cause lung fibrosis?
A. Doxaurubicin B. Cisplatin C. Cyclophosphamide D. Bleomycin E. Vincristine
A
D. Bleomycin
21
Q
Which of the following chemotherapeutic agents can result in infertility?
A. Doxaurubicin B. Cisplatin C. Cyclophosphamide D. Bleomycin E. Vincristine
A
C. Cyclophosphamide
22
Q
A child is born with puffy hands and feet. Blood tests and urine examination are unremarkable. What is the most likely diagnosis?
A. Congenital nephrotic syndrome
B. Congenital lymphoedema
A
B. Congenital lymphoedema
Congenital lymphedema is swelling that results from abnormalities in the lymphatic system that are present from birth. Swelling may be present in a single affected limb, several limbs, genitalia, or the face. Frequently syndromic and is associated with Turner syndrome.
Congenital nephrotic syndrome (CNS) is a rare kidney disorder characterized by heavy proteinuria, hypoproteinemia, and edema starting soon after birth.
23
Q
Post-transplant lymphoproliferative disorder is due to a proliferation of B cells in association with which of the following?
A. EBV
B. CMV
C. VZV
D. HSV
A
A. EBV
24
Q
Superantigen effects are due initially to massive activation of which of the following cells?
A. CD4
B. CD8
C. Complement
D. B cells
A
A. CD4
- causes non-specific activation of T-cells resulting in polyclonal T cell activation and massive cytokine release.
25
Which of the following immunoglobulin is resistant to proteolysis?
```
A. IgA
B. IgE
C. IgM
D. IgD
E. IgE
```
A) IgA
IgA is particularly resistant to proteolysis and is important in host defense at mucosal surfaces.
26
Which of the following are inherently resistant to cephalosporins?
A. Enterococcus faecalis
B. Pseudomonas
A) Enterococcus faecalisram-positive bacterium that is intrinsically resistant to cephalosporins
27
Photo of boy with winged scapula. Due to damage to which of the following nerves?
A. Long thoracic nerve
B. Axillary nerve
A. Long thoracic nerve
This is typically due to damage (i.e. lesions) of the long thoracic nerve.[1] This nerve supplies the serratus anterior, which is located on the side of the thorax and acts to pull the scapula forward.
28
Which of the following is the most important long-term prognostic factor in HUS?
A. Duration of anuria
B. Need for dialysis
C. Peak serum Creatinine
D. Age of child
?A
Poor prognostic indicators include the following:
Elevated WBC count at diagnosis
Prolonged anuria
Severe prodromal illness
Severe hemorrhagic colitis with rectal prolapse or colonic gangrene
Severe multisystemic involvement
Persistent proteinuria
Genetic abnormalities in complement regulatory factors
29
Which of the following is the most common cause of death in 1-4 year olds?
A. Infection
B. Injury
C. Congenital malformations
B. Injury
30
Which of the following is the commonest cause of mortality in sickle cell <5 years?
A. Splenic sequestration
B. Invasive pneumococcal sepsis
B. Invasive pneumococcal sepsis
"The proportion of deaths from infection was 50% in the CSSCD infant cohort, 28% in Jamaica, and 20% in Dallas. Four Dallas subjects died of pneumococcal sepsis...All occurred before the heptavalent-conjugated pneumococcal vaccine (PCV-7) was licensed. ... After infection, the most common causes of death in the Dallas Newborn Cohort were the acute chest syndrome and multiorgan failure syndrome. No subject was known to have died of acute splenic sequestration."
Quinn CT, Rogers ZR, Buchanan GR. Survival of children with sickle cell disease. Blood. 2004;103(11):4023–4027. doi:10.1182/blood-2003-11-3758
31
A child has a recurrent UTI. Urine grows a pure growth of E. Coli, sensitive to bactrim, amp and mero with ESBL detected. What is the most appropriate course of antibiotic therapy?
A. Bactrim
B. Meropenem
C. Amp + gent
B. Meropenem
32
The commonest cause of superinfection in eczema is?
A. Staph Aureus
B. Scabies
C. Varicella
A) staph
Bacterial skin infection is extremely common in atopic dermatitis. This is usually with staphylococcal or streptococcal bacteria (see staphylococcal skin infections and streptococcal skin infections). Infection is in part due to breaks in the skin from very dry, split skin and from scratching the itchy areas. People with atopic dermatitis also seem to have a reduced ability to fight against these common bacteria on the skin.
- Dermnet
33
A child suffers a seizure with tonic eye deviation to the right with facial twitching. Which part of the brain is involved?
```
A. Right temporal lobe
B. Left temporal lobe
C. Left frontal lobe
D. Left occipital lobe
E. Right occipital lobe
```
B. Left temporal lobe
34
A new study has recruited 100 patients with the disease of interest. This is an example of what phase of clinical trial?
```
A. Phase I
B. Phase II
C. Phase III
D. Phase IV
E. Phase V
```
B Phase II
Phase I Clinical Trial
Phase I clinical trials are done to test a new biomedical intervention for the first time in a small group of people (e.g. 20-80) to evaluate safety (e.g. to determine a safe dosage range and identify side effects).
Phase II Clinical Trial (with disease)
Phase II clinical trials are done to study an intervention in a larger group of people (several hundred) to determine efficacy (that is, whether it works as intended) and to further evaluate its safety.
Phase III Clinical Trial
Phase III studies are done to study the efficacy of an intervention in large groups of trial participants (from several hundred to several thousand) by comparing the intervention to other standard or experimental interventions (or to non-interventional standard care). Phase III studies are also used to monitor adverse effects and to collect information that will allow the intervention to be used safely.
Phase IV Clinical Trial
Phase IV studies are done after an intervention has been marketed. These studies are designed to monitor the effectiveness of the approved intervention in the general population and to collect information about any adverse effects associated with widespread use over longer periods of time. They may also be used to investigate the potential use of the intervention in a different condition, or in combination with other therapies.
35
Goodpasture’s disease is an example of what type of hypersensitivity reaction?
A. Type I
B. Type II
C. Type III
D. Type IV
B) Type II
Type II hypersensitivity reactions are referred to as cytotoxic, as they involve antibodies that are specific to particular tissues within the body and cause destruction of cells in these tissues (e.g., autoimmune hemolytic anemia, Goodpasture syndrome).
36
You see schistocytes on a blood film, these are due to which of the following?
A. Microangiopathic haemolytic anaemia
B. Cold haemolytic anaemia
C. Haemaglobinopathy
A) Microangiopathic haemolytic anaemia
The presence of schistocytes (fragmented red blood cells) on the peripheral blood smear suggests red blood cell injury from damaged endothelium and is a characteristic feature of microangiopathic hemolytic anemia.
37
Commonest cause of hearing loss in neonatal period?
A. AR non-syndrome hearing loss
B. AR syndromic hearing loss
C. AD non-syndromic hearing loss
D. AD syndromic hearing loss
A. AR non-syndrome hearing loss
"Autosomal recessive non-syndromic hearing loss, which accounts for 80% of genetic cases, is typically congenital, whereas autosomal dominant non-syndromic hearing loss, which accounts for the remaining 20% of cases, is often progressive with a later age of onset X-linked or maternal mitochondrial DNA-related modes of inheritance are rare. 19
Although the frequency of causative genes varies across different populations and ethnicities, the most frequent genetic cause of severe-to-profound autosomal recessive non-syndromic hearing loss is mutation in the gap junction protein beta 2 gene (GJB2). 20 Mutations in this gene account for ≤50% of the autosomal recessive non-syndromic hearing loss cases in the white populations of Europe and the United States. "
38
Short stature in Turners syndrome is due to which of the following?
A. GH deficiency
B. Oestrogen deficiency
C. Haploinsufficiency of short stature homeobox gene
C. Haploinsufficiency of short stature homeobox (SHOX) gene
39
What is the reason for measuring TMPT levels when using azathioprine?
A. Drug efficacy
B. Drug toxicity
B. Drug toxicity
Patients with TPMT deficiency treated with standard doses of azathioprine or 6-mercaptopurine are at significantly increased risk of myelosuppression, bleeding, infection, and death associated with increased levels of cytotoxic 6-thioguanine nucleotide levels in the red blood cells
40
A teenager with diabetes has been non-compliant with his insulin therapy. His last HbA1c was 14%. He now has had a faltering in his growth, is lethargic and presenters with hepatomegaly. The changes are likely due to which of the following?
A. Coeliac disease
B. Hypothyroidism
C. Mauriac syndrome
C)Mauriac syndrome
Mauriac syndrome is a rare complication of type 1 diabetes characterized by extreme liver enlargement due to glycogen deposition, along with growth failure and delayed puberty. It occurs in some children and adolescents with type 1 diabetes irrespective of their glycemic control.
41
Which of the following represents forced vital capacity?
TLC - RV
| IC + ERV
42
The commonest reason teenagers perform self-harm is in an attempt to?
A. Commit suicide
B. Harm themselves
C. Manage their emotions
D. Harm others
C. Manage their emotions
43
Most appropriate treatment for a 5 year old with obsessive compulsive disorder?
```
A. Pharmacotherapy
B. Interpersonal therapy
C. CBT
D. Exposure and response prevention
E. Family therapy
```
C. CBT
44
What is the distinguishing feature when diagnosing schizophrenia in autism?
A. Thought disorder
B. Negative symptoms
C. Disorganised behaviour
B. Negative symptoms
“negative symptoms can precede the onset of illness (schizophrenia)”. These symptoms include affective flattening, alogia, avolition, anhedonia, and poor attention. Poor attention is common in schizophrenia and Autism/Asperger's syndrome.
45
Mother has a child with down syndrome that is cyanotic and has a murmur. Chest x-ray shows a boot shaped heart. What is the most likely lesion?
A. AVSD
B. ASD
C. VSD
D. TOF
D. TOF
46
ECG shows a narrow complex tachycardia. The child is given adenosine with a brief slowing in the rate but it reverts to the tachycardia. Which of the following medications is contraindicated?
A. Sotalol
B. Flecainide
C. Verapamil
D. Beta blocker
C. Verapamil
Adenosine and calcium channel blockers are contraindicated for use in patients with Wolff-Parkinson-White syndrome. Intravenous administration of calcium channel blockers, such as diltiazem, or beta-blockers, such as esmolol, is also commonly used for short-term SVT management.
47
A 4 year old child has a 6m history of wet cough. She is thriving. Her chest xray shows Peribronchial thickening. What is the most likely diagnosis?
A. CF
B. Protracted bacterial bronchitis
C. Recurrent viral infections
B. Protracted bacterial bronchitis
48
A child has fevers, abdo pain, diarrhoea. Rash of HSP is shown. What are the likely findings on skin biopsy?
A. C3 deposition around vessels
B. IgA deposition around vessels
C. IgG deposition
B. IgA deposition around vessels
Henoch-Schönlein purpura (HSP) is a form of systemic vasculitis characterized by vascular wall deposits of predominantly IgA, typically involving small vessels in skin, gut, and glomeruli and associated with purpura, intestinal colic, hematuria, and arthralgia or arthritis.
49
Pictures shown of various forms of oesophageal atresia +/- fistula. Which of the following is the most common type.
```
A, Type A
B, Type B
C, Type C
D, Type D
E, Type E
```
C)
Type A - Proximal and distal esophageal bud—a normal esophagus with a missing mid-segment.
Type B - Proximal esophageal termination on the lower trachea with distal esophageal bud.
Type C - Proximal esophageal atresia (esophagus continuous with the mouth ending in a blind loop superior to the sternal angle) with a distal esophagus arising from the lower trachea or carina. (Most common, up to 90% of cases.)
Type D - Proximal esophageal termination on the lower trachea or carina with distal esophagus arising from the carina.
Type E (or H-Type) - A variant of type D: if the two segments of esophagus communicate, this is sometimes termed an H-type fistula due to its resemblance to the letter H. TEF without EA.
50
What is a Forest Plot?
A forest plot, also known as a blobbogram, is a graphical display of estimated results from a number of scientific studies addressing the same question, along with the overall results.
Commonly presented with two columns. The left-hand column lists the names of the studies (frequently randomized controlled trials or epidemiological studies), commonly in chronological order from the top downwards. The right-hand column is a plot of the measure of effect (e.g. an odds ratio) for each of these studies (often represented by a square) incorporating confidence intervals represented by horizontal lines. The graph may be plotted on a natural logarithmic scale when using odds ratios or other ratio-based effect measures, so that the confidence intervals are symmetrical about the means from each study and to ensure undue emphasis is not given to odds ratios greater than 1 when compared to those less than 1. The area of each square is proportional to the study's weight in the meta-analysis. The overall meta-analysed measure of effect is often represented on the plot as a dashed vertical line. This meta-analysed measure of effect is commonly plotted as a diamond, the lateral points of which indicate confidence intervals for this estimate.
A vertical line representing no effect is also plotted. If the confidence intervals for individual studies overlap with this line, it demonstrates that at the given level of confidence their effect sizes do not differ from no effect for the individual study. The same applies for the meta-analysed measure of effect: if the points of the diamond overlap the line of no effect the overall meta-analysed result cannot be said to differ from no effect at the given level of confidence.
51
Mother is HCV RNA and Ag +. What is the likely transmission rate to her child if she remains untreated.
```
A. 10%
B. 20%
C. 30%
D. 50%
E. 100%
```
A) 10%
risk of transmission is estimated to be 5.8% (95%CI 4.2 to 7.8%) among antibody–positive and RNA-positive women (Benova et al 2014)
52
How much Na is in 0.45% NaCl + 5% dextrose?
```
A. 45mmol/L
B. 77mmol/L
C. 100mmol/L
D. 145mmol/L
E. 156mmol/L
```
B. 77mmol/L
53
A 7yo boy has weakness of both his legs with bladder dysfunction and loss of pain and temperature sense. The lesion within the cord is at which location?
A. Posterior column
B. Brown sequard
C. Central cord lesion
D. Anterior cord
D) anterior cord
- Complete motor paralysis below the level of the lesion due to interruption of the corticospinal tract
Loss of pain and temperature sensation at and below the level of the lesion due to interruption of the spinothalamic tract[2]
Retained proprioception and vibratory sensation due to intact dorsal columns[2][3]
Autonomic dysfunction may be present and can manifest as hypotension (either orthostatic or frank hypotension), sexual dysfunction, and/or bowel and bladder dysfunction[4][5]
Areflexia, flaccid internal and external anal sphincter, urinary retention and intestinal obstruction may also be present in individuals with anterior cord syndrome.
Central cord -
disproportionately greater motor impairment in upper compared to lower extremities, and variable degree of sensory loss below the level of injury in combination with bladder dysfunction and urinary retention.
Brown-Sequard syndrome (BSS) is a rare neurological condition characterized by a lesion in the spinal cord which results in weakness or paralysis (hemiparaplegia) on one side of the body and a loss of sensation (hemianesthesia) on the opposite side.
Posterior column - In most cases, lesions present bilaterally. However, in rare cases, lesions have been seen unilaterally.[2] Moreover, general symptoms of posterior spinal artery infarcts include ipsilateral loss of proprioceptive sensation, fine touch, pressure, and vibration below the lesion; deep tendon areflexia; and in severe circumstances, complete paralysis below the portion of the spinal cord affected.
54
Which of the following has most dramatically reduced the rate of SIDS?
```
A. No smoking
B. Apnoea alarm
C. Reducing soft bedding
D. Sleeping supine
E. Co-sleeping
```
D. Sleeping supine
55
Positional plagiocephaly vs craniosynotosis (diff types)
In positional plagiocephaly, the skull sutures are not fused. This head shape deformation, typically of the back of the head, is caused by repeated pressure to the same area.
In craniosynostosis, one or more of the sutures close early. The skull then attempts to grow parallel to the fused suture, rather than perpendicular to it, causing an abnormal head shape.
Sagittal craniosynostosis, the most common non-syndromic form, causes a long and narrow head. There may be prominence, or “bossing,” of the forehead and/or occiput.
Bilateral coronal craniosynostosis, the most common syndromic form, causes a short and wide head
Unilateral coronal craniosynostosis causes a rotated appearance to the face with flattening of the forehead and elevation of the orbital roof on the affected side along with rotation of the nose. Sometimes the anterior fontanel is somewhat displaced to the contralateral side.
Metopic craniosynostosis causes a triangular shape to the forehead when viewed from above. Eyes may be
abnormally close together. Metopic ridging without the triangular shape is a normal variant and does not require surgical correction.
Lambdoid craniosynostosis is very rare and the only type that would cause flattening in the back of the head similar to positional plagiocephaly. With lambdoid craniosynostosis, however, the ear and possibly forehead on the side of the posterior flattening are displaced posteriorly, giving the head a trapezoidal shape. With positional plagiocephaly, the ear and forehead displacement is anterior. In addition, lambdoid craniosynostosis can cause inferior
displacement of the ipsilateral ear and mastoid which is not present in positional plagiocephaly.
56
When there is a left to right shunt at atrial level there is often a fixed split heart sound but this is hard to detect on examination. Which of the following would be indicative of a significant shunt at atrial level?
A. Parasternal heave
B. Systolic ejection murmur ULSE
C. Pansystolic murmur LLSE
D. Thrill in ULSE
?A. Parasternal heave
| secondary to RVH
57
What is the pathophysiological explanation for heart failure in the newborn period?
A. RV pressure overload
B. Systemic to pulmonary shunt
C. Pulmonary to systemic shunt
C. Pulmonary to systemic shunt
58
Which of the following cardiac lesions is associated with a suprasternal thrill?
```
A. AS
B. PS
C. PDA
D. TOF
E. TGA
```
A. AS
59
10y old boy who was unwell as a child with a cardiac condition from which he improved. Is found to have sats of 88% and a loud P2. CXR is shown (normal size heart, ?pulmonary oligaemia). The most likely explanation for these findings is?
```
A. ASD
B. VSD
C. Eisenmenger’s
D. Ebstein’s anomaly
E. TOF
```
?E
Loud P2 = PHTN
(not C or D)
60
An infant of a gestational diabetic is found to have sats of 85% at three hours of life with a normal cardiac exam. The most likely cardiac lesions is?
A. TGA
B. TOF
C. TAPVR
D. HLHS
Congenital heart disease occurs in 5% of IDM. The most frequent cardiac anomalies in IDMs include ventricular septal defect, transposition of great arteries and aortic stenosis. Defects involving the great arteries, including truncus arteriosus and double outlet right ventricle, are also more prevalent in IDMs. Also HOCM.
61
In which of the following lesions is a prostaglandin infusion contraindicated?
```
A. TGA
B. TAPVR
C. AVSD
D. TOF
E. HLHS
```
B) Total Anomalous Pulonary Venous Return (TAPVR)
Pulmonary veins attach to vena cava
Prostaglandin worsens TAPVR
62
Which of the following cells in implicated in hyperacute renal transplant rejection?
A. CD4
B. CD8
C. CD20
C, CD20
The CD20-positive lymphocytes were associated with T-cell-mediated rejection, increased human leukocyte antigen mismatch, and frequency of retransplant.
anti-CD20 = rituximab
63
A child is noted antenatally to have mild renal pelvic dilatation. This has progressed post-natally but there is no ureteric dilatation. The next most appropriate investigation is?
A. MAG3
B. MCUG
C. DTPA
D. DMSA
A) MAG3 (as per westmead)
A MAG-3 renal scan is a test that shows renal function and assesses drainage (looking for obstruction/ blockage) of the urinary system.
MCUG: visualizing a person's urethra and urinary bladder while the person urinates
- All males with recurrent UTIs (urinary tract infections) or abnormality on ultrasound if first UTI.
- Females < 3 years of age with their first UTI.
- Females < 5 years of age with febrile UTIs
- Older females with pyelonephritis or recurrent UTIs
- Suspected obstruction (e.g. bilateral hydronephrosis)
- Suspected bladder trauma or rupture
- Stress incontinence (urine)[citation needed]
- Vesico ureteric reflux
- Cystocele
DMSA: renal morphology, structure and function.
- scarring
- renal agenesis, ectopic
- occult duplex systems
DTPA - renogram (like MAG3) but with DTPA; MAG3 is preferred over Tc-99m-DTPA in neonates, patients with impaired function, and patients with suspected obstruction, due to its more efficient extraction.
64
Which component of immunoglobulin is involved in superantigen activation?
A. Vd
B. FAB
C. Fc
?? Fab
65
When analysing the fluid from an empyema – which of the following would be expected findings? Different answers with high or low LDH, protein, glucose.
```
A)
protein: <3 gm
glucose: >40 mg/dL
pleural fluid protein/serum protein ratio: <0.6
pleural fluid pH: >7.2
micro: no cells
```
```
B)
protein: >3 gm
glucose: <40 mg/dL
pleural fluid protein/serum protein ratio: >0.6
pleural fluid pH: <7.3
micro: lymphocytes
```
```
C)
protein: >3 gm
glucose: <40 mg/dL
pleural fluid protein/serum protein ratio: >0.5
pleural fluid pH: <7.2
micro: polymorphs
```
C.
Light's criteria to distinguish pleural fluid transudates and exudatons: an exudative effustion meets >/= 1 of; a transudate meets none
1) pleural fluid protein/serum > 0.5
2) pleural fluid/serum lactate dehydrogenase > 0.6
3) pleural fluid LDH >2/3 upper normal limit of serum LDH
66
Which of the following distances is affected in foetal alcohol syndrome (picture shows you different options)?
A. Intercanthal
B. Inter pupillary
C. Inner and outer canthus length
D. Top and bottom lid distance
C) small eye distance (endocanthion to exocanthion = palpebral fissure)
```
The three diagnostic facial features of
FAS as defined by the FASD 4-Digit Diagnostic Code are:
- small palpebral fissure lengths (2 or
more standard deviations below the mean)
- a smooth philtrum
- thin upper lip philtrum
```
67
Which of the following is PCR most likely to miss?
A. Deletion of an entire exon
B. Missense mutation
C. Substitution
A - deletion of entire exon
vs substitution and missense = single nucleotide change
Polymerase chain reaction (PCR) is a method widely used in molecular biology to make several copies of a specific DNA segment. Using PCR, copies of DNA sequences are exponentially amplified to generate thousands to millions of more copies of that particular DNA segment.
- precise sequence of a targeted gene, can detect changes of a single base within a gene; cannot detect outside gene of interest
68
Which of the following has the lowest rate of relapse in an 8yo with nocturnal enuresis?
```
A. Bell and pad
B. Oxybutynin
C. DDAVP
D. Psychotherapy
E. Family therapy
```
A. Bell and pad
69
Child with bloods showing fanconi syndrome and corneal crystals.
A. Cystinosis
B. Lowe syndrome
C. Zellweger syndrome
Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid cystine.
- AR
- mutation in CTNS gene that codes for cystinosin, the lysosomal membrane-specific transporter for cystine
- accumulation of free cystine in lysosomes, eventually leading to intracellular crystal formation throughout the body
- the most common cause of Fanconi syndrome in the pediatric age group.
- three distinct types of cystinosis each with slightly different symptoms:
1) nephropathic cystinosis - infants poor growth and Fanconi syndrome
2) intermediate cystinosis - present later, ~12-15; malfunctioning kidneys and corneal crystals
3) non-nephropathic or ocular cystinosis - no kidney involvement; The buildup of these crystals in the cornea causes photophobia and potentially blindness
- treated with cysteamine, which is available in capsules and in eye drops
70
5yo with weeks history of irritability abdominal distension, fever, bloods showing anaemia, mildly raised platelets, monocytes, normal WCC, lymphocytes, raised LDH, acute renal failure (raised urea, creatinine), mildly raised ALT / GGT. High ALP, electrolyte derangement suggestive of tumour lysis, CT picture showing heterogenous mass- reportedly extending between liver and pancreas, surrounding hepatic vein and aorta extending to thorax and with abdominal metastasis
a. Burkitts lymphoma
b. Hepatoblastoma
c. Neuroblastoma
d. Rhabdomyoscarcoma
e. Wilms tumour
Evidence of spontaneous TLS, high LDH
C. Burkitt’s
Spontaneous TLS — Spontaneous acute kidney injury associated with marked hyperuricemia prior to the initiation of therapy has been described in NHL and acute leukemia [21,26,54,55], and in at least one patient with inflammatory breast cancer [56]. The actual incidence of this syndrome is difficult to ascertain. In a series of 33 patients with aggressive or highly aggressive NHL, three had marked hyperuricemia (plasma uric acid concentration >17 mg/dL [1012 micromol/L]) and acute kidney injury requiring hemodialysis prior to the initiation of chemotherapy [21]
71
13yo girl with three months of ataxia, tremor and incoordination. CT shows a large cystic lesion.
A. Ependymoma
B. Medulloblastoma
C. Astrocytoma
ataxia, tremor and incoordination = cerebellum
?C. Astrocytoma
could be medulloblastoma
72
Nephritis with low complement and negative ASOT. 6 weeks later complement is still low but improved.
A. IgA nephropathy
B. Membranoproliferative
C. Post-strep glomerulonephritis
B. Membranoproliferative
IgA neph - c3 norm
PSGN - C3 normalise 6-8 wks
73
A drug which has a half life of four hours has a loading dose of 10mg/kg. If you want to double the loading dose how long will it take to reach it’s steady state concentration?
```
A. 4 hours
B. 8 hours
C. 10 hours
D. 20 hours
E. 40 hours
```
D. 20 hours
5 half lives to reach steady state
74
Which of the following factors has the most important long term prognostic effect with regards to intraventricular haemorrhage in newborns?
A. Size of bleed
B. Ventricular dilatation
C. Echogenic focus next to ventricle
D. Bleeding into germinal matrix
?D. Bleeding into germinal matrix
eventually causing WM damage?
75
A newborn has their umbilical stump still attached at two weeks of age. Which of the following is the most likely cause?
```
A. Leucocyte adhesion defect
B. Chronic granulomatous disease
C. SCID
D. CVID
E. Wiskott Aldrich
```
A. Leucocyte adhesion defect
76
```
A newborn child has IUGR, blueberry muffin rash, hepatosplenomegaly and interstitial pneumonitis.
A. Rubella
B. CMV
C. Syphilis
D. Toxoplasma
E. Varicella
```
A. Rubella
77
A newborn child has hydrocephalus, intracranial calcifications and Chorioretinitis
```
A. Rubella
B. CMV
C. Syphilis
D. Toxoplasma
E. Varicella
```
B. CMV
78
A teenage boy who is usually well suddenly collapses during a 400m race. He has no recollection of the event.
```
A. AS
B. HOCM
C. WPW
D. PS
E. Vasovagal
F. Seizure disorder
```
B. HOCM
79
An infant has failure to thrive, diarrhoea, hepatomegaly and adrenal calcification. What is the most likely cause?
```
A. Zellweger
B. Hypothyroidism
C. Lysosomal acid lipase deficiency (Wolman syndrome)
D. Mucopolysaccharoidosis
E. MPS
```
C) Wolman disease is a very rare autosomal recessive lysosomal storage disease that is caused by severe deficiency of the lysosomal acid lipase (LAL) enzyme resulting in the deposition of fats in multiple organs and is fatal within the first year of life. Patients with Wolman disease typically present during the first two months of life with failure to thrive, diarrhea and vomiting. Abdominal distention may be present because of hepatomegaly, splenomegaly and generalized lymphadenopathy. The underlying biochemical abnormality is a deficiency of acid lipase/acid esterase. These enzymes are responsible for splitting triglycerides and cholesterol esters 3. The deficiency results in accumulation of lipid esters in multiple tissues including the liver, spleen, lymph nodes, and small bowel.
Marked accumulation of cholesterol and fatty acid crystals also occurs within the cells of the adrenal cortex, resulting in enlargement of the adrenal glands. Saponification (accumulation of glyceryl ether lipids) of this tissue with subsequent calcification results in the characteristic radiological features.
80
What is the mechanism of growth failure in chronic renal failure?
A. GH deficiency
B. GH resistance
C. Increased GH clearance
D. Reduced binding proteins
B. GH resistance
However, GH levels are usually normal or even elevated in these patients [9, 10], suggesting that CKD is mainly a state of GH resistance and not GH deficiency. A number of factors leading to GH resistance have been proposed, and they include: (1) reduced GH receptors numbers in target tissues, (2) post-receptor defects in GH signaling [Janus kinase/signal transducer and activator of transcription (JAK/STAT) signaling], and (3) reduced levels of free IGF-1
81
CSF interpretation in guillian barre – protein, glucose, cell count.
CSF protein, glucose, WBCs,
A) inc, dec, inc/HI
B) normal/inc, normal, inc
C) inc, norm, normal
C) CSF
- proten inc >100 mg/dL
- glucose N
- CSF WBC normal 0-100
no pleiocytosis
usually normal in <48 hrs
82
Congenital nephrotic syndrome
begins in infancy and typically leads to irreversible kidney failure (end-stage renal disease) by early childhood. Children with congenital nephrotic syndrome begin to have symptoms of the condition between birth and 3 months.
The features of congenital nephrotic syndrome are caused by failure of the kidneys to filter waste products from the blood and remove them in urine. Signs and symptoms of this condition are excessive protein in the urine (proteinuria), increased cholesterol in the blood (hypercholesterolemia), an abnormal buildup of fluid in the abdominal cavity (ascites), and swelling (edema). Affected individuals may also have blood in the urine (hematuria), which can lead to a reduced number of red blood cells (anemia) in the body, abnormal blood clotting, or reduced amounts of certain white blood cells. Low white blood cell counts can lead to a weakened immune system and frequent infections in people with congenital nephrotic syndrome.
Children with congenital nephrotic syndrome typically develop end-stage renal disease between ages 2 and 8, although with treatment, some may not have kidney failure until adolescence or early adulthood.
83
5 yo with symptoms of systolic murmur, hypertelorism, low hair line and develops juvenile myelomonocytic leukemia. Pick the syndrome
Noonan's
84
what is Loeys-Dietz syndrome
An autosomal dominant genetic connective tissue disorder. It has features similar to Marfan syndrome and Ehlers–Danlos syndrome. Type 1, Type 2, Type 3, Type 4 and Type 5 are caused by mutations in TGFBR1, TGFBR2, SMAD3, TGFB2, and TGFB3 respectively. These five genes encoding transforming growth factors play a role in cell signaling that promotes growth and development of the body's tissues. Mutations of these genes cause production of proteins without function. The skin cells for individuals with Loeys–Dietz syndrome are not able to produce collagen.
The primary manifestations of Loeys–Dietz syndrome are arterial tortuosity (winding course of blood vessels), widely spaced eyes (hypertelorism), wide or split uvula, and aneurysms at the aortic root. Other features may include cleft palate and a blue/gray appearance of the white of the eyes. Cardiac defects and club foot may be noted at birth.[6]
There is overlap in the manifestations of Loeys–Dietz and Marfan syndromes, including increased risk of ascending aortic aneurysm and aortic dissection, abnormally long limbs and fingers, and dural ectasia (a gradual stretching and weakening of the dura mater that can cause abdominal and leg pain). Findings of hypertelorism (widely spaced eyes), bifid or split uvula, and skin findings such as easy bruising or abnormal scars may distinguish Loeys–Dietz from Marfan syndrome.
Affected individuals often develop immune system related problems such as allergies to food, asthma, hay fever, and inflammatory disorders such as eczema or inflammatory bowel disease.
Findings of Loeys–Dietz syndrome may include:
Skeletal/spinal malformations: craniosynositosis, Scoliosis, spinal instability and spondylolisthesis, Kyphosis
Sternal abnormalities: pectus excavatum, pectus carinatum
Contractures of fingers and toes (camptodactyly)
Long fingers and lax joints
Weakened or missing eye muscles (strabismus)
Club foot
Premature fusion of the skull bones (craniosynostosis)
Joint hypermobility
Congenital heart problems including patent ductus arteriosus (connection between the aorta and the lung circulation) and atrial septal defect (connection between heart chambers)
Translucency of the skin with velvety texture
Abnormal junction of the brain and medulla (Arnold-Chiari malformation)
Bicuspid aortic valves
Criss-crossed pulmonary arteries
85
Inheritance of primary ciliary dyskinesia (autosomal recessive)
AR
86
what's the rate of false positives with current CF neonatal screening program?
(it would be 1 - specificity of the current screening which is around 99.9% according to a 2012 MJA article called "Lessons learned from 20 years of newborn screening for CF" )
